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    COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience
    (AVES, 2023) Yoldaş, Çelik, M.; Canda, E.; Yazıcı, H.; Erdem, F.; Özkaya, P.Y.; Sahbudak, Z.B.; Uçar, S.K.
    Objective: Coronavirus disease 2019 (COVID-19) causes significant morbidity and mortality in individuals with chronic disease. There is not enough information about the course of corona-virus disease in lysosomal storage diseases. This study aimed to evaluate coronavirus disease vaccination status and the impact of coronavirus disease on lysosomal storage disease. Materials and Methods: The study included 87 lysosomal storage disease patients. The patients’ diagnoses were Gaucher, mucopolysaccharidosis I, II, IVA, VI, VII, Fabry, and Pompe. A questionnaire assessing severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) exposure, coronavirus disease symptoms, and vaccine status was administered in person or by phone calls. Results: The number of coronavirus disease positive patients was 8 (9.1%). Only 2 patients were treated in the intensive care unit. Other coronavirus disease patients had mild symptoms and stayed in-home quarantine. Patients over 12 years of age could receive a COVID-19 vaccine. 63.5% of those aged ?12 years were vaccinated. Conclusion: Lysosomal storage disease patients did not have an increased risk of COVID-19 compared to the healthy population, despite the chronic inflammatory disease. Vaccination of lysosomal storage disease patients will be protective against severe coronavirus disease. © 2023, AVES. All rights reserved.
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    Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome
    (John Wiley and Sons Inc, 2023) Ozek, G.; Aksoylar, S.; Uçar, S.K.; Canda, E.; Akcan, M.; Cartı, O.; Siviş, Z.O.
    Background: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome is usually fatal, the most effective treatment appears to be hematopoietic stem cell transplantation (HSCT). Procedure: In this retrospective study, we evaluated HSCT that was performed using a reduced toxicity myeloablative conditioning regimen in patients with MNGIE at our center. Results: A total of six allogeneic transplant procedures were performed in four patients. Three patients had fully matched donors, and one patient had a haploidentical donor. Treosulfan-based myeloablative conditioning regimen was applied in five of six transplants. Bone marrow was used as a stem cell source. One patient is being followed up in the 4th year of posttransplant with full chimeric and without graft versus host disease (GVHD). One patient died of acute stage IV gastrointestinal system GVHD. Two patients underwent second transplantation due to engraftment failure, one of which was the patient who had a haploidentical transplant. Conclusions: Treosulfan-based regimen is well tolerated, although engraftment failure with this conditioning regimen can be a significant problem. We share our haploidentical transplant experience, which will be the first reported case in the literature. © 2023 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals LLC.