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Öğe Preoperative screening for COVID-19: Results from a clinical diagnostic laboratory(Istanbul University, 2022) Aydoğan, Okan; Gözün Şaylan, Ezgi; Güven, Özlem; Ayaz, Akif; Yiğitbaşı, TürkanObjective: The study aimed to determine what proportion of Turkiye’s preoperative patient population has tested positive for COVID-19 and to ascertain whether the increasing or decreasing trend in the numbers of positive preoperative patients resembles the general population of Turkiye during the same period. Materials and Methods: The study cohort involved of the 14,776 patients from various services between January 1-December 31, 2021 who needed preoperative COVID-19 test reports. The patient's SARS-CoV-2 RNA's were detected with real-time polymerase chain reaction (RT-PCR) technique. Results: SARS-CoV-2 RT-PCR positivity was detected in 422 (2.86%) patients, of which 59.72% (n = 252) were female and 40.28% (n = 170) were male; their mean age was 40.2 years. Of the 422 positive cases, 84.12% were young adults (18-65 years), and 9% were middle-aged (66-79 years). Positive cases involving those under the age of 18 were found to account for 5.22% (n = 22) of the total. The highest positivity rate was observed in April 2021 at 8.28% of all test requests, while the lowest positivity rate was observed in June 2021, at 0.36% of all test requests. The highest positivity rate of April was followed by March (5.07%), October (4.74%), and August (3.13%). Conclusion: In conclusion, the COVID-19 RT-PCR positivity rate in the series was detected as 2.85% in preoperative patients over the one year period. Monthly positivity rates in screening results are consistent with the number of cases seen in the general population.Öğe Effects of chromosomal translocations on sperm count in azoospermic and oligospermic cases(Dokuz Eylül University Institute of Health Sciences, 2022) Ayaz, Akif; Yalçıntepe, Sinem; Özalp, Özge; Yılmaz Güleç, Elif; Gezdirici, Alper; Akçay, Ebru Perim; Köseoğlu, Abdullah HüseyinPurpose: A number of mechanisms have been proposed for the effect of chromosomal translocations on spermatogenesis and sperm maturation. However, there are still numerous ambiguous issues regarding these two processes. The aim of this study is to evaluate the effect of chromosome break areas on sperm count in the light of the literature. Material and Methods: The study was conducted on the data of 16 male patients with reciprocal or Robertsonian translocation among 152 patients who were admitted to Adana Numune Training and Research Hospital and Kanuni Sultan Suleyman Training and Research Hospital Genetic Diagnosis Centers between 2013 and 2016 due to azoospermia and oligospermia. Results: 11 of these patients had reciprocal and five patients had Robertsonian translocations. All the patients with Robertsonian translocations were detected with azoospermia. Of the patients with reciprocal translocation, five of them were azoospermic and six of them were severe oligospermic. Conclusion: A total of 21 chromosomal breakpoints were identified in the 11 patients with reciprocal translocations. These chromosomal breakpoints may contribute to the clarification of ambiguous issues related to spermatogenesis and sperm maturation. The results also showed the importance of genetic counselling in patients with translocations.Öğe Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia(Public Library of Science, 2022) Gerlevik, Umut; Saygı, Ceren; Cangül, Hakan; Kutlu, Aslı; Çaralan, Erdal Fırat; Topçu, Yasemin; Özören, Nesrin; Sezerman, Osman UğurBackground Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNHassociated FLNA mutations are female whereas liveborn males with FLNA mutations are very rare. Fetal viability of the males seems to depend on the severity of the variant. Splicing or severe truncations presumed loss of function of the protein product, lead to male lethality and only partial-loss-of-function variants are reported in surviving males. Those variants mostly manifest milder clinical phenotypes in females and thus avoid detection of the disease in females. Methods We describe a novel p.Arg484Gln variant in the FLNA gene by performing whole exome analysis on the index case, his one affected brother and his healthy non-consanguineous parents. The transmission of PNH from a clinically asymptomatic mother to two sons is reported in a fully penetrant classical X-linked dominant mode. The variant was verified via Sanger sequencing. Additionally, we investigated the impact of missense mutations reported in affected males on the FLNa protein structure, dynamics and interactions by performing molecular dynamics (MD) simulations to examine the disease etiology and possible compensative mechanisms allowing survival of the males. Results We observed that p.Arg484Gln disrupts the FLNa by altering its structural and dynamical properties including the flexibility of certain regions, interactions within the protein, and conformational landscape of FLNa. However, these impacts existed for only a part the MD trajectories and highly similar patterns observed in the other 12 mutations reported in the liveborn males validated this mechanism. Conclusion It is concluded that the variants seen in the liveborn males result in transient pathogenic effects, rather than persistent impairments. By this way, the protein could retain its function occasionally and results in the survival of the males besides causing the disease.Öğe First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype(Elsevier B.V., 2022) Ayaz, Akif; Doğru, Zeynep; Kılıç, Betül; Süzek, Barış EthemFamilial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were shared and the whole-exome-sequencing study of the index case was performed. It was confirmed by the Sanger method. We found the RANBP2 gene p.I656V variant homozygous in the index case. We found the variant in the parents as heterozygous. We argue that biallelic mutations in the RANBP2 gene may result in ANE with early onset and severe prognosis by increasing penetrance.
