Tıp Fakültesi / Faculty of Medicine
Permanent URI for this collectionhttps://hdl.handle.net/11727/1403
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Item Associations between IL-1 alpha, IL-1 beta, TNF alpha, and IL-6 variations, and susceptibility to transposition of the great arteries(2022) Atasoy Karakas, Latife; Tugrul, Duygu; Sahin Uysal, Nihal; Esin, Sertac; Tokel, Niyazi Kursat; Terzi, Yunus Kasim; 35590253; AEY-5060-2022Background: To evaluate the relationship between IL-1 alpha-889UT (rs1800587), IL-1 beta -511 C >T (rs16944), TNF alpha-308G > A (rs1800629), TNF alpha-238G > A (rs361525), IL-6 -174G> C (rs1800795), and IL-6 -572G > C (rs1800796) polymorphisms and the susceptibility to transposition of the great arteries (TGA). Methods: A prospective analysis was performed on mothers whose newborns were diagnosed as having TGA. For each case of TGA, a mother who gave birth to a healthy neonate in the same period was randomly selected for the control group. The sample size was calculated before planning the study with 80% power and 5% alpha. Results: Twenty-seven mothers whose newborn had TGA anomalies (group 1) and 27 mothers whose newborn had no TGA (group 2) were included in the study. There were no significant differences between the groups in terms of maternal age, pregestational body mass index, gestational age at birth and infant sex (p> 0.05). The genotype and allele distributions of IL-1 alpha -889C/T (rs1800587), IL-1 beta -511C >T (rs16944), TNF alpha -308G >A (rs1800629), TNF alpha -238G > A (rs361525), IL-6 -174G> C (rs1800795) and IL-6 -572G > C (rs1800796) gene variants were not different between the two groups (p> 0.05). Conclusions: There was no relation between IL-1 alpha, IL-1 beta, IL-6, and TNF alpha promoter gene polymorphisms and TGA occurrence in our study group.Item A newborn case diagnosed as isolated TBX1 deletion with 22q11 deletion syndrome(2020) Turan, Ozden; Celik, Zerrin Yilmaz; Ince, Deniz Anuk; Terzi, Yunus Kasim; Ecevit, Ayse; 0000-0002-2232-8117; 0000-0002-7707-1881; 0000-0002-4369-2110; AAJ-4616-2021; AAJ-2333-2021; I-6746-2016Item Persistent Hyperinsulinemic Hypoglycemia with Pancreatic Teratoma in Infancy: A Case Report(2020) Cemeroglu, Ayse Pinar; Sarialioglu, Faik; Belen-Apak, Fatma Burcu; Terzi, Yunus Kasim; 0000-0002-8257-810X; 32782239; AAL-7766-2021Objective: Unusual clinical course Background: Pediatric intraabdominal pancreatic teratomas have been rarely reported. This is the first case of severe hyper-insulinemic hypoglycemia in a 6-month-old infant secondary to an intraabdominal teratoma. The hypoglycemia resolved after surgical removal. Case Rreport: A 6-month-old infant was seen in a pediatric emergency department with complaints of lethargy and abnormal eye movements. She was diagnosed with hyperinsulinemic hypoglycemia and started on diazoxide. A CT and MRI of the abdomen revealed a 165x77x72 mm cyst with a 51x45x30 mm solid structure connecting to the wall of the cyst by a stalk, raising suspicion of a fetus in fetu. The mass had no connection to her pancreas. Following total excision of the intraabdominal mass, her hypoglycemia resolved. Histopathological examination showed immature fetal pancreatic tissue consistent with a mature teratoma. Whole exon sequencing of the infant's peripheral blood showed a negative mutation of ABCC8 and presence of heterozygous variations of HNF1b and IRS1 genes. Conclusions: This is the first case report of an infant with severe hyperinsulinemic hypoglycemia secondary to a pancreatic teratoma. The heterozygous variations of HNF1b and IRS1 genes likely played a role in the embryogenesis, causing a pancreatic teratoma and hyperinsulinemic hypoglycemia.Item A highly efficient and faithful MDS patient-derived xenotransplantation model for pre-clinical studies(2019) Song, Yuanbin; Rongvaux, Anthony; Taylor, Ashley; Jiang, Tingting; Tabaldi, Toma; Balasubramanian, Kunthavai; Bagale, Arun; Terzi, Yunus Kasim; Gbyli, Rana; Wang, Xiaman; Fu, Xiaoying; Gao, Yimeng; Zhao, Jun; Podoltsev, Nikolai; Xu, Mina; Neparidze, Natalia; Wong, Elice; Torres, Richard; Bruscia, Emanuela M.; Kluger, Yuval; Manz, Markus G.; Flavell, Richard A.; Halene, Stephanie; 0000-0001-5612-9696; 30664659; B-4372-2018Comprehensive preclinical studies of Myelodysplastic Syndromes (MDS) have been elusive due to limited ability of MDS stem cells to engraft current immunodeficient murine hosts. Here we report a MDS patient-derived xenotransplantation model in cytokine-humanized immunodeficient "MISTRG" mice that provides efficient and faithful disease representation across all MDS subtypes. MISTRG MDS patient-derived xenografts (PDX) reproduce patients' dysplastic morphology with multi-lineage representation, including erythro- and megakaryopoiesis. MISTRG MDS-PDX replicate the original sample's genetic complexity and can be propagated via serial transplantation. MISTRG MDS-PDX demonstrate the cytotoxic and differentiation potential of targeted therapeutics providing superior readouts of drug mechanism of action and therapeutic efficacy. Physiologic humanization of the hematopoietic stem cell niche proves critical to MDS stem cell propagation and function in vivo. The MISTRG MDS-PDX model opens novel avenues of research and long-awaited opportunities in MDS research.Item Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients(2016) Terzi, Yunus Kasim; Balci, Tugce Bulakbasi; Boga, Can; Koc, Zafer; Celik, Zerrin Yilmaz; Ozdogu, Hakan; Karakus, Sema; Sahin, Feride Iffet; 27095682Objective: Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease. Iron overload as a result of transfusion is important in the mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of hemochromatosis gene (HFE) p.H63D and p.C282Y mutations on transfusion-related cardiac and liver iron overload in sickle cell disease patients who carry homozygous hemoglobin S mutation has been investigated. Materials and Methods: This is a prospective single-center cross-sectional study in patients with homozygous hemoglobin S mutation between the years 2008 and 2013. The patients were divided into two groups. The first group (group A, n=31) was receiving chelation therapy and the second group (group B, n=13) was not. Direct and indirect iron loads were analyzed by magnetic resonance imaging and biochemically, respectively. HFE gene mutations were analyzed by polymerase chain reaction-restriction fragment length polymorphism method. Statistical analyses were performed by independent samples t-test. Results: p.H63D mutation was detected in 10 (32.3%) patients in group A and in only 1 patient (7.7%) in group B. When the 2 groups were compared for iron overload, iron deposition in the liver was significantly higher in group B (p=0.046). In addition, in group A, iron deposition was significantly higher in HFE mutation carriers compared to patients without the mutation (p=0.05). Conclusion: Results of this study showed that HFE gene mutations are important in iron deposition in the liver in patients with sickle cell disease.Item BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency(2016) Yilmaz, Nafiye Karakas; Karagin, Peren Hatice; Terzi, Yunus Kasim; Kahyaoglu, Inci; Yilmaz, Saynur; Erkaya, Salim; Sahin, Feride Iffet; 27403073Objective: Although the association between BRCA1 and BRCA2 gene mutations and breast and ovarian cancer is known, there is insufficient data about premature ovarian insufficiency (POI). However, several studies have reported that there might be a relationship between POI and BRCA1 and BRCA2 gene mutation. Therefore, in the present study, we aimed to investigate the role of BRCA1 and BRCA2 gene mutations in the etiology of POI in a Turkish population. Material and Methods: The cohort was classified into two groups: a study group, consisting of 56 individuals diagnosed with premature ovarian insufficiency (and who were younger than 40 years of age, had an antral follicle count <3-5, and FSH levels >12 IU/I), and a control group, consisting of 45 fertile individuals. A total of 101 individuals were analyzed by next-generation sequencing to detect BRCA1 and BRCA2 gene mutations. Results: We detected four new variations (p.T1246N and p.R1835Q in BRCA1 and p.I3312V and IVS-7T>A in BRCA2) that had not been reported before. Conclusion: We did not find an association between the BRCA1 and BRCA2 gene mutations and premature ovarian insufficiency. However, larger, functional studies are needed to clarify the association.