Browsing by Author "Isik, E"

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    E-CADHERIN GENE PROMOTER METHYLATION IN PEDIATRIC ASTHMA PATHOGENESIS AND CLINICS
    Zaraci, K; Ozkinay, F; Yilmaz, O; Atik, T; Basbay, Y; Isik, E; Yuksel, H
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    A novel candidate gene for neurodevelopmental disorders: JKAMP
    Durmusalioglu, EA; Isik, E; Polat, M; Canda, E; Atik, T
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    Failure analysis of cardan shaft?s flange yoke fracture occurred during torsional fatigue test
    Akkas, O; Isik, E; Çulha, O
    In this study, the analysis and characterization of the failure that occurred during the torsional fatigue test of the flange yoke unit part of the cardan shaft used in heavy commercial vehicles were carried out. In order to determine the root cause of the failure according to the production, structure, property and performance relationship in materials science, chemical analysis of the steel raw material used in the production of flange yoke, hardness measurement, grain size analysis, decarburization measurement, inclusion analysis and raw material characterization by scanning electron microscopy (SEM) were carried out. As a result of the studies, it was determined that the values obtained for 41Cr4 steel raw material were conformant according to the TS EN ISO 683-2 standard, but in the SEM examination and EDS analysis, elongated MnS inclusions in the microstructure and cracks were detected at the interface of the metal matrix and MnS inclusions. In this context, as a result of the characterization of the flange yoke unit part, it was determined that the MnS ratio was 2-4 mu m x 898-1.181 mu m according to the ASTM E45 standard, at the same level as the raw material and equivalent to the A-type value of 3.0-3.5. It was determined that MnS inclusion formations in the subsurface region formed crack propagation zones.
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    Mutation spectrum of GCK, HNF1A and HNF1B in MODY patients and 40 novel mutations
    Ozkinay, F; Isik, E; Simsek, DG; Aykut, A; Karaca, E; Ozen, S; Bolat, H; Atik, T; Saygili, F; Kartal, E; Gul, U; Anik, A; Tutunculer, F; Eren, E; Ozbek, MN; Bober, E; Abaci, A; Kirel, B; Ersoy, B; Buyukinan, M; Kara, C; Cakir, EP; Yildirim, R; Isguven, P; Dagdeviren, A; Agladioglu, SY; Dogan, M; Sangun, O; Arslanoglu, I; Korkmaz, HA; Temiz, F; Onay, H
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    A Retrospective Evaluation of the Epithelial Changes/Lesions and Neoplasms of the Gallbladder in Turkey and a Review of the Existing Sampling Methods: A Multicentre Study
    Esendagli, G; Akarca, FG; Balci, S; Argon, A; Sengiz Erhan, S; Turhan, N; Ince Zengin, N; Hallaç Keser, S; Çelik, B; Bulut, T; Abdullazade, S; Erden, E; Savas, B; Bostan, T; Sagol, O; Aysal Agalar, A; Kepil, N; Karslioglu, Y; Günal, A; Markoç, F; Saka, B; Özgün, G; Özdamar, SO; Bahadir, B; Kaymaz, E; Isik, E; Ayhan, S; Tunçel, D; Özguven Yilmaz, B; Çelik, S; Karabacak, T; Erbarut Seven, I; Ataizi Çelikel, C; Gücin, Z; Ekinci, Ö; Akyol, G
    Objective: As there is continuing disagreement among the observers on the differential diagnosis between the epithelial changes/lesions and neoplasms of the gallbladder, this multicentre study was planned in order to assess the rate of the epithelial gallbladder lesions in Turkey and to propose microscopy and macroscopy protocols. Material and Method: With the participation of 22 institutions around Turkey that were included in the Hepato-Pancreato-Biliary Study Group, 89,324 cholecystectomy specimens sampled from 2003 to 2016 were retrospectively evaluated. The numbers of adenocarcinomas, dysplasias, intracholecystic neoplasms/adenomas, intestinal metaplasias and reactive atypia were identified with the review of pathology reports and the regional and countrywide incidence rates were presented in percentages. Results: Epithelial changes/lesions were reported in 6% of cholecystectomy materials. Of these epithelial lesions, 7% were reported as adenocarcinoma, 0.9% as high-grade dysplasia, 4% as low-grade dysplasia, 7.8% as reactive/regenerative atypia, 1.7% as neoplastic polyp, and 15.6% as intestinal metaplasia. The remaining lesions (63%) primarily included non-neoplastic polypoids/hyperplastic lesions and antral/pyloric metaplasia. There were also differences between pathology laboratories. Conclusion: The major causes of the difference in reporting these epithelial changes/lesions and neoplasms include the differences related to the institute's oncological surgery frequency, sampling protocols, geographical dissimilarities, and differences in the diagnoses/interpretations of the pathologists. It seems that the diagnosis may change if new sections are taken from the specimen when any epithelial abnormality is seen during microscopic examination of the cholecystectomy materials.
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    Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis
    Isik, E; Aydinok, Y; Albayrak, C; Durmus, B; Karakas, Z; Orhan, MF; Sarper, N; Aydin, S; Unal, S; Oymak, Y; Karadas, N; Turedi, A; Albayrak, D; Tayfun, F; Tugcu, D; Karaman, S; Tobu, M; Unal, E; Ozcan, A; Unal, S; Aksu, T; Unuvar, A; Bilici, M; Azik, F; Ay, Y; Gelen, SA; Zengin, E; Albudak, E; Eker, I; Karakaya, T; Cogulu, O; Ozkinay, F; Atik, T
    ObjectivesIn congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA.MethodsOne hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and whole-exome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction.ResultsMolecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR.ConclusionsIn this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success.