Browsing by Author "Akcay, Arzu"
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Article Effect of Genetic Mutations on Outcomes of Stem Cell Transplantation in Children With Hemophagocytic Lymphohistiocytosis(Springernature, 2025) Ozturk, Gulyuz; Yesilipek, Mehmet Akif; Akcay, Arzu; Uygun, Vedat; Ozek, Gulcihan; Karasu, Gulsun; Antmen, BulentPrimary hemophagocytic lymphohistiocytosis (p-HLH) can be cured with allogeneic haematopoietic stem cell transplantation (allo-HSCT). It remains unclear whether HSCT outcomes are affected by the presence of different genetic mutations. We used data obtained from children who underwent allo-HSCT for HLH to examine the effects of genetic mutations on HSCT outcomes. Data from 153 paediatric patients in 18 paediatric stem cell centres were retrospectively evaluated. Patients were divided into four groups: 1) with PRF1 mutation (n = 46), 2) with UNC13D mutation (n = 38), 3) with STX11/STXBP2 mutation (n = 25) and 4) with Griscelli syndrome type 2/ Chediak-Higashi syndrome (GS2/CHS) diagnosis (n = 44). Statistical analysis showed no difference between the subgroups in terms of engraftment, VOD, acute GVHD, chronic GVHD, TRM, OS and EFS rates. The most important factor affecting OS and EFS in all genetic subgroups was remission status before HSCT. The 5-year EFS values for children with mutations in PRF1, UNC13D, STX11/STXBP2 and GS2/CHS were 71%, 66.6%, 74% and 66.7, respectively (log-rank >0.05). However, with prospective studies covering more patients, and creating different genetic subgroups by performing more detailed genetic analyses, special approaches for different genetic subgroups can be revealed in the future.Article Pulmonary Parasitic Embolization Caused by Micro Ruptured Hydatid Cyst: an Autopsy Case(Duzce Univ, Fac Medicine, 2023) Ata, Ugur; Caglayan, Derya; Celik, Cemil; Kartal, Erhan; Akcay, ArzuEchinococcosis generally remains asymptomatic for many years, but it can also be fatal if complications like cyst rupture or superinfection occur. It is highly uncommon for a macroscopically non-ruptured cyst to cause death, and its exact mechanism is unknown. In the literature, there are several cases with identical characteristics diagnosed by autopsy. This autopsy case has illustrated the death due to a micro ruptured hydatid cyst. The deceased's lung underwent microscopic inspection, and it revealed broad intraalveolar hemorrhage, edema, severe hyperemia, neutrophil stasis in the interstitial capillary lumens, and a large number of parasites in the capillary lumen. Anaphylaxis against cyst contents that leaked into the bloodstream from liver cysts and non-thrombotic pulmonary embolization were shown to be the causes of mortality. In countries where echinococcosis is endemic, echinococcosis should be considered in all cases of anaphylaxis and sudden death.