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Öğe May argyrophilic nucleolar organizer regions be used as a biomarker for the detection of the degree of ischemic damage instead of tunel in testicular torsion?(MDPI, 2021) Kabaklıoğlu, M.; Eroz, R.; Kaya, M.Background and Objectives: It is of great importance to obtain information about the severity of ischemic damage and duration of testicular torsion for an effective treatment strategy. Nucleolar-organizing regions (NORs) are sites of the ribosomal genes composed of ribosomal DNA and proteins. Post-silver staining NORs are termed “AgNOR”. Since AgNORs clearly reveals the self-renewal potential of cells damaged in ischemic events, we performed the current study. Materials and Methods: The study was carried out in four groups as control, sham, early, and late T/D. In the surgical groups, testes were corrected after a 4-h ischemia period. Testicular tissue samples were taken on the third day after detorsion in group 1, 2, 3, and on the tenth day after detorsion in group 4. TUNEL and silver stainings were applied to all samples. Results: The differences were significant among the groups for both mean AgNOR number and total AgNOR area/total nuclear area (TAA/TNA). Moreover, the differences between control and early torsion-detorsion (T/D), between control and late T/D, between sham and early T/D, between sham and late T/D, and between early T/D and late were statistically significant for AgNOR amount. Furthermore, statistically significant differences among the groups for an average number of apoptotic cells per tubule and the percentage of apoptotic tubule values were detected. Discussion: The apoptotic index gives the ratio of cells that are damaged and will die in a programmed way and cells that remain intact, rather than show the viability of the returning testicle. However, by measuring cells that regenerate with AgNOR, we can show not only those that survive but also cells that can repair themselves. Conclusion: AgNOR proteins are usable for the early observation of ischemic injury levels. The amount of AgNOR protein can enlighten us about the extent of testicular damage after T/D treatment. It may also help the physician in the development of effective treatment strategies for cases. © 2021 by the authors. Licensee MDPI, Basel, Switzerland.Öğe Variations in monogenic diabetes and diabetes susceptibility genes in pediatric cases: single center experience(Editura Acad Romane, 2023) Arslanoglu, I.; Eroz, R.; Yavuzyilmaz, F.; Dogan, M.; Bolu, S.; Karaca, S.Context. Diabetes is a chronic disorder with a complex pathogenetic background including monogenic, polygenic, and environmental causes. Objective. The aim of the present paper is to share the information related to genetic and clinical data of large pediatric diabetes cohort. Design. The present study retrospectively analyzes genetic and clinical findings of subjects diagnosed with diabetes under the age of 18 year and are in follow-up in a pediatric diabetes referral center. Subjects and Methods. Out of 1205 children with diabetes (902 treated with insulin) 246 underwent genetic tests on the basis of clinical selection criteria since 2007. Results. One hundred and ten variants related to diabetes were found in 89 of them. Age at presentation was 9.5 +/- 4.02 years (F/M 44/45). In total 49 pathogenic and likely pathogenic, 11 hot and warm of unknown significance variants were found in fourteen MODY and fifteen nonMODY genes according to criteria developed by American College of Medical Genetics. Thirty novel mutations were found. GCK (26.6%) and ABCC8 (10%) were two most frequently affected genes. Antibody testing revealed negative results in 80% of cases. Conclusions. Genetic interpretation in selected cases is important to understand the nature of the disease better. Improvement in testing opportunity and awareness might increase the prevalence of genetically explained diabetes cases. The distribution of subtypes differs between countries and even regions of the same country.Öğe Volumetric analysis of the brain structures of children with down’s syndrome: A 3D MRI study(Ondokuz Mayis Universitesi, 2021) Oz, F.; Acer, N.; Ceviz, Y.; Eroz, R.; Canatan, H.; Yucekaya, B.Down’s syndrome (DS) is one of the most common genetic causes of mental and cognitive retardation. In fact, it results in a number of characteristic neuropsychological and physical symptoms, including mental retardation. The aim of this study was to compare the brain structure volumes of children with DS to those of healthy children using MRI Studio in order to investigate whether there exists correlation between the developmental stages of DS and the results of both the Denver II Developmental Screening Test and magnetic resonance imaging (MRI) quantitative analysis. Five children diagnosed with Down’s syndrome (age range = 2–6 years) were matched for gender and age with five healthy comparison subjects. To analyse the overall and regional brain volumes, high-resolution MRI scans were performed and a morphometric analysis was conducted via MRI Studio software. The MRI T1 volumetric images were normalised using a linear transformation, which was followed by large deformation diffeomorphic metric mapping. Significant decreases (p<0.05) in the volumes of the right pons, cerebellum and left superior frontal gyrus (prefrontal cortex) were observed in the children with DS when compared with the control group (p<0.05). Although decreases were detected in the regional volumes of other brain locations, they were not significant (p>0.05). It was further found that the developmental retardation observed in the children with DS, as detected using the Denver II test, increased due to decreases in the volumes of certain regions of the brain, although this was also not statistically significant (p>0.05). The results of this study generally confirm the findings of prior studies concerning the overall patterns of the brain volumes in children with DS and also provide new evidence of the abnormal volumes of specific regional tissue components among such a population. These results suggest that the brain volume reduction associated with DS may primarily be due to early developmental differences rather than neurodegenerative changes © 2021 Ondokuz Mayis Universitesi. All rights reserved.