TR-Dizin İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/11727/4808
Browse
7 results
Search Results
Item Fractalkine (CX3CL1) and its receptor (CX3CR1) in children with hypertrophic adenoid and chronic otitis media with effusion(2020) Inan, Serhat; Babakurban, Seda Turkoglu; Erbek, Selim Sermed; Terzi, Yunus Kasim; Sahin, Feride Iffet; 0000-0001-7308-9673; 0000-0001-5067-4044; 0000-0003-4825-3499; 0000-0001-5612-9696; 0000-0001-8821-4481; AAC-7232-2020; AAI-8856-2021; AAJ-1407-2021; B-7604-2019; B-4372-2018Background: Adenoid hypertrophy (AH) is one of the possible causes of chronic inflammation in the middle ear. It has been suggested that CX3CL1 and its specific receptor (CX3CR1) could be related with the pathogenesis of some inflammatory diseases. The aim of the present study was to evaluate the role of CX3CL1 and CX3CR1 in the pathogenesis of AH with chronic otitis media with effusion (COME) in children. Materials and methods: Adenoid tissue samples were obtained from 91 pediatric patients and divided into two groups: adenoidectomy only for AH (n: 47) and adenoidectomy in conjunction with ventilation tube insertion for AH + COME (n: 44). Expression levels of CX3CL1 and CX3CR1 genes were compared. Results: Expression levels of CX3CL1 and CX3CR1 in hypertrophic adenoid tissue were not significantly different between the AH + COME and All only groups. Although no significant difference was detected in the expression of CX3CL1 in the adenoid samples, the expression of CX3CR1 was higher in children older than 48 months. Conclusions: When allergy, atopy and chronic adenoiditis does not exist to obstructive adenoid hypertrophy, inflammatory fractalkine chemokine expression levels in adenoid tissue was not observed to be increased in children with COME.Item The Role of Heredity and the Prevalence of Strabismus in Families with Accommodative, Partial Accommodative, and Infantile Esotropia(2020) Eroglu, Fatma Corak; Oto, Sibel; Sahin, Feride Iffet; Terzi, Yunus; Kaya, Ozge Ozer; Tekindal, Mustafa Agah; 0000-0003-0171-4200; 0000-0001-7308-9673; 0000-0001-5612-9696; 32631000; AAJ-4668-2021; AAC-7232-2020; B-4372-2018Objectives: To investigate the prevalence of strabismus in families of a proband with accommodative, partial accommodative, or infantile esotropia, and to evaluate the mode of inheritance and the role of consanguineous marriages in this prevalence. Materials and Methods: Families of probands with comitant strabismus were invited to participate in the study. The family members of 139 subjects with accommodative, 55 with partial accommodative, and 21 with infantile esotropia agreed to participate. Detailed family trees were constructed. The first- and second-degree relatives were invited for a complete ophthalmological examination, and 518 individuals from 168 families were evaluated. The role of consanguinity, the presence of tropia, phoria (>= 8 PD), microtropia, and hypermetropia (>= 3.00 D) among first- and second-degree relatives were analyzed. Results: A non-Mendelian pattern was found in 49 families (23%), an autosomal dominant pattern in 39 families (18%), and an autosomal recessive pattern in 6 families (3%). The prevalence of consanguineous marriages among parents of probands was 18.1%, 22.6%, and 14.3% in the accommodative, partial accommodative, and infantile esotropia groups, respectively (p=0.652). The prevalence of strabismus in first-degree relatives was 58.9%, 45.5%, and 38.1%, respectively (p=0.07). The prevalence of microtropia in probands' siblings was significantly higher in the accommodative esotropia group (p=0.034). Conclusion: Sporadic cases and non-Mendelian inheritance were more frequent than autosomal recessive inheritance. Autosomal recessive inheritance was found not to be frequent in consanguineous marriages. The prevalence of strabismus and microtropia was significantly higher in families of esotropia cases than in the general population.Item The differences in the expression of fractalkine and its receptor in conditions of tonsillar hypertrophy and chronic tonsillitis(2019) Hetemoglu, Elif Koclu; Babakurban, Seda Turkoglu; Terzi, Yunus Kasim; Sahin, Feride Iffet; Erbek, Selim Sermed; 0000-0001-5612-9696; 0000-0001-7308-9673; 30554983; B-4372-2018; AAC-7232-2020Objective: Fractalkine, member of chemokine family, is involved in many inflammatory processes in the human body. The aim of this study is to compare expression levels of fractalkine ligand and its receptor in chronic tonsillitis and hypertrophic tonsil samples. Methods: The study was conducted at Baskent University Departments of Otorhinolaryngology and Medical Genetics. It is designed as a prospective, non-randomized, controlled clinical study. Total 97 samples, obtained from adenotonsillectomy due to chronic tonsillitis or tonsillar hypertrophy, were participated in the study. Fractalkine and its receptor expression levels were determined and comparison was made between the tissue groups. c.839C > T (T280 M) polymorphism of fractalkine receptor was analyzed, then relationship between polymorphism and the expression level of fractalkine receptor was investigated. Results: Fractalkine receptor expression was significantly higher in the hypertrophic tonsil group than chronic tonsillitis group (p < 0.05). Conclusion: Fractalkine, member of chemokine family, and its receptor may play role in preventing chronic-recurrent tonsillitis. (C) 2019 Elsevier B.V. All rights reserved.Item Blastoid Variant Mantle Cell Lymphoma with Complex Karyotype Including 11q Duplication(2014) Ozer, Ozge; Toprak, Selami K.; Ote, Enver; Yilmaz, Zerrin; Sahin, Feride IffetWe describe a case of blastoid mantle cell lymphoma with a complex karyotype. The blastoid variant is a rare type of non-Hodgkin lymphoma exhibiting an aggressive clinical course. Mantle cell lymphoma is a distinct entity of mature B-cell neoplasms genetically characterized by the presence of t(11;14). In the present case, conventional analysis revealed structural abnormalities of chromosomes 2, 4, 6, 10, 13, and 19, along with 3 additional marker chromosomes. The derivative 1 chromosome determined in the case was a result of t(1p;11q). Our interesting finding was the presence of a different translocation between 11q and chromosome 1 in addition to t(11;14). Thus, the resulting 11q duplication was believed to additionally increase the enhanced expression of cyclin D1 gene, which is responsible in the pathogenesis of the disease. Fluorescence in situ hybridization method by the t(11;14) probe revealed clonal numerical abnormalities of chromosomes 11 and 14 in some cells. The detection of multiple abnormalities explains the bad prognosis in the present case. On the basis of our findings, we can easily conclude that results of cytogenetic analyses of similar mantle cell lymphoma patients would provide clues about new responsible gene regions and disease prognosis. In conclusion, it has been suggested that the presence of multiple chromosomal aberrations in addition to the specific t(11;14) may have a negative impact on clinical course and survival rate.Item Epigallocatechin 3-gallate applications on HT-29 and MCF-7 cell lines and evaluation of tumor suppressor gene methylation(2015) Terzi, Yunus Kasim; Kaya, Ozge Ozer; Iseri, Ozlem Darcansoy; Celik, Zerrin; Sahin, Feride IffetEpigallocatechin 3-gallate (EGCG) is an antitumor molecule and shows this activity by binding to the active center of a methyltransferase enzyme (DNMT1). The methylation of DNA sequences of tumor suppressor and DNA repair genes is observed in different stages of carcinogenesis. In this study, we analyzed the effect of EGCG on the methylation status of 25 tumor suppressor genes in cancer cell lines HT-29 and MCF-7. HT-29 and MCF-7 cells were incubated with 10 mu M, 20 mu M, and 50 mu M and 1 mu M, 5 mu M, and 10 mu M EGCG for 48 h, respectively. We found promoter hypermethylation of (1) CDH13, GATA5, and RAR beta genes in MCF-7 cell line and (2) RAR beta, ESR1, PAX6, WT1, CADM1, CHFR, CDH13, and GATA5 genes in HT-29 cell line. However, (3) after EGCG application, no changes in methylation status were detected in our samples. Our results suggest that methylation status of tumor suppressor genes did not change with different EGCG doses.Item 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation(2015) Erol, Ilknur; Onay, Ozge Surmeli; Yilmaz, Zerrin; Ozer, Ozge; Alehan, Fusun; Sahin, Feride IffetPhelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome.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.