Browsing by Author "Uygun, Vedat"

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Deferasirox in children with transfusion-dependent thalassemia or sickle cell anemia: A large cohort real-life experience from turkey (reach-them)
(Wiley, 2019-02-01) Antmen, Bülent; Karakaş, Zeynep; Yeşilipek, Mehmet Akif; Küpesiz, Osman Alphan; Şaşmaz, Ilgen; Uygun, Vedat; Kurtoğlu, Erdal; Oktay, Gönül; Aydogan, Gönül; Akın, Mehmet; Salcıoğlu, Zafer; Vergin, Canan; Kazancı, Elif Güler; Ünal, Selma; Çalışkan, Ümran; Aral, Yusuf Ziya; Türkkan, Emine; Güneş, Adalet Meral; Tunc, Bahattin; Gümrük, Fatma; Ayhan, Aylin Canbolat; Söker, Murat; Koç, Ahmet; Oymak, Yeşim; Ertem, Mehmet; Timur, Çetin; Yıldırmak, Yıldız; İrken, Gülersu; Apak, Hilmi; Biner, Betül; Eren, Tuğba Gürleyen; Balcı, Yasemin Işik; Koçak, Ulker; Karasu, Gulsun; Akkaynak, Diyar; Patıroğlu, Türkan; MERAL GÜNEŞ, ADALET; Uludağ Üniversitesi/Tıp Fakültesi; JGX-6145-2023
Objectives To evaluate the long-term efficacy and safety of deferasirox therapy in a large observational cohort of children with transfusion-dependent thalassemia (TDT) and sickle cell anemia (SCA) in Turkey. Methods This was a multicenter, prospective cohort study including TDT and SCA patients aged 2-18 years with iron overload (>= 100 mL/kg of pRBC or a serum ferritin [SF] level >1000 mu g/L) receiving deferasirox. Patients were followed for up to 3 years according to standard practice. Results A total of 439 patients were evaluated (415 [94.5%] TDT, 143 [32.6%] between 2 and 6 years). Serum ferritin levels consistently and significantly decreased across 3 years of deferasirox therapy from a median of 1775.5 to 1250.5 mu g/L (P < 0.001). Serum ferritin decreases were noted in TDT (1804.9 to 1241 mu g/L), SCA (1655.5 to 1260 mu g/L), and across age groups of 2-6 years (1971.5 to 1499 mu g/L), 7-12 years (1688.5 to 1159.8 mu g/L), and 13-18 years (1496.5 to 1107 mu g/L). Serum ferritin decreases were also noted for all deferasirox dose groups but only significant in patients with doses >= 30 mg/kg/d (n = 120, -579.6 median reduction, P < 0.001). Only 9 (2%) patients had adverse events suspected to be related to deferasirox. Serum creatinine slightly increased but remained within the normal range. Conclusions Deferasirox has long-term efficacy and safety in children with TDT and SCA, although higher doses (>= 30 mg/kg/d) may be required to achieve iron balance.
Different kinetics and risk factors for isolated extramedullary relapse after allogeneic hematopoietic stem cell transplantation in children with acute leukemia
(Elsevier, 2021-08-20) Hazar, Volkan; Öztürk, Gülyüz; Yalçın, Koray; Uygun, Vedat; Aksoylar, Serap; Küpesiz, A.; Bozkaya, İkbal Ok; Karagün, Barbaros Şahin; Bozkurt, Ceyhun; İleri, Talia; Atay, Didem; Koçak, Ülker; Karasu, Gülsün Tezcan; Yeşilipek, Akif; Gökçe, Müge; Kansoy, Savas; Kintrup, Gulen Tüysüz; Karakukcu, Musa; Okur, Fatma Visal; Ertem, Mehmet; Kaya, Zühre; Gürsel, Orhan; Yaman, Yöntem; Özbek, Namık; Antmen, Bülent; Tüfekci, Özlem; Albayrak, Canan; Aksoy, Başak Adakli; Sezgin, Gülay; Albayrak, Davut; Evim, Melike Sezgin; Zengin, Emine; Pekpak, Esra; SEZGİN EVİM, MELİKE; Bursa Uludağ Üniversitesi/Tıp Fakültesi.; 0000-0002-4792-269X; AAH-1452-2021
Relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains the most frequent cause of post-transplantation mortality. Isolated extramedullary (EM) relapse (iEMR) after HSCT is relatively rare and not well characterized, particularly in pediatric patients. We retrospectively analyzed 1527 consecutive pediatric patients with acute leukemia after allo-HSCT to study the incidence, risk factors, and outcome of iEMR compared with systemic relapse. The 5 -year cumulative incidence of systemic relapse (either bone marrow [BM] only or BM combined with EMR) was 24.8%, and that of iEMR was 5.5%. The onset of relapse after allo-HSCT was significantly longer in EM sites than in BM sites (7.19 and 5.58 months, respectively; P =.013). Complete response (CR) 2 +/active disease at transplantation (hazard ratio [HR], 3.1; P <.001) and prior EM disease (HR, 2.3; P =.007) were independent risk factors for iEMR. Chronic graft-versus-host disease reduced the risk of systemic relapse (HR, 0.5; P=.043) but did not protect against iEMR. The prognosis of patients who developed iEMR remained poor but was slightly better than that of patients who developed systemic relapse (3 -year overall survival, 16.5% versus 15.3%; P =.089). Patients experiencing their first systemic relapse continued to have further systemic relapse, but only a minority progressed to iEMR, whereas those experiencing their iEMR at first relapse developed further systemic relapse and iEMR at approximately similar frequencies. A second iEMR was more common after a first iEMR than after a first systemic relapse (58.8% versus 13.0%; P =.001) and was associated with poor outcome. iEMR has a poor prognosis, particularly after a second relapse, and effective strategies are needed to improve outcomes. (C) 2021 The American Society for Transplantation and Cellular Therapy. Published by Elsevier Inc. All rights reserved.
Higher incidence of hypertension with intravenous busulfan compared to oral busulfan in thalassaemic children who underwent haematopoietic stem cell transplantation
(Springernature, 2011-04) Tayfun, Funda; Özdemir, Gül Nihal; Akçan, Mediha; Uygun, Vedat; Karasu, Gülsün; Yeşilipek, Akif; Baytan, Birol; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Hematoloji ve Onkolojisi Anabilim Dalı.
Mutational landscape of severe combined immunodeficiency patients from Turkey
(Wiley, 2020-06-02) Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Aydiner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra H.; Reisli, Ismail; Torun, Selda H.; Çöğürlü, Tuba; Uygun, Dilara; Şimşek, Işıl E.; Kaya, Ayşenur; Çipe, Funda; Çağdaş, Deniz; Yücel, Esra; Uygun, Vedat; Barış, Safa; Özen, Ahmet; Özbek, Uğur; Sayitoğlu, Müge; Çekiç, Şükrü; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmünoloji Anabilim Dalı.; 0000-0002-9574-1842; L-1933-2017; 56117061000
Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation sequencing (NGS) has recently enabled rapid identification of the molecular aetiology of SCID, which is crucial for prognosis and treatment strategies. We sought to identify the genetic aetiology of various phenotypes of SCIDs and assessed both clinical and immunologic characteristics associated with gene variants. An amplicon-based targeted NGS panel, which contained 18 most common SCID-related genes, was contumely made to screen the patients (n = 38) with typical SCID, atypical SCID or OMENN syndrome. Allelic segregations were confirmed for the detected gene variants within the families. In total, 24 disease-causing variants (17 known and 7 novel) were identified in 23 patients in 9 different SCID genes: RAG1 (n = 5), RAG2 (n = 2), ADA (n = 3), DCLRE1C (n = 2), NHEJ1 (n = 2), CD3E (n = 2), IL2RG (n = 3), JAK3 (n = 4) and IL7R (n = 1). The overall success rate of our custom-made NGS panel was 60% (39.3% for NK+ SCID and 100% for NK- SCID). Incidence of autosomal-recessive inherited genes is more frequently found in our cohort than the previously reported populations probably due to the high consanguineous marriages in Turkey. In conclusion, the custom-made sequencing panel was able to identify and confirm the previously known and novel disease-causing variants with high accuracy.