Person: TEMEL, ŞEHİME GÜLSÜN
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TEMEL
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ŞEHİME GÜLSÜN
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Publication The story of a ship journey, malaria, and the HBB gene ivs-ii-745 mutation: Circassian immigration to cyprus(Thieme Medical Publication, 2021-03-16) Ergören, Mahmut C.; Temel, Şehime G.; Mocan, Gamze; Dündar, Munis; Temel, Şehime G.; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Mühendisliği Anabilim Dalı.; 0000-0001-9593-9325; 0000-0002-9802-0880; 0000-0003-0969-4611; B-3150-2011; D-8491-2018; GQP-2509-2022; AAZ-6885-2021Background During 19th century, the Circassians were secluded from their lands and forced to migrate to Ottoman Empire properties. Approximately 2,346 Circassians were exiled from Istanbul to Cyprus Island. During the deportation journey, many of Circassian were passed away in consequence of malaria and unknown reasons. Overall, 1,351 survivor Circassians managed to reach the island, however, many of them had faced with endemic malaria again in Cyprus. An autosomal recessive hematological disorder thalassemia was the second endemic health condition after malaria, whereas thalassemia carriers show resistance to malaria infections.Materials and Methods A large Cypriot family with 57 members whose grandparents were supposed to be in that ship journey has been investigated in this study. Polymerase chain reaction (PCR)-amplification refractory mutation system (ARMS) analysis technique was used for genotyping the HHB gene.Results The human beta -globin ( HBB ) gene c.316-106C>G (IVS-II-745) (II-745) heterozygous variation have been detected.Conclusion Overall, this study is a very good example for a typical natural selection. In this case, one single gene point mutation did not limit survival in the society; natively, it increased their survival changes to form new colonization and the inheritance of the mutation to the next generations.Publication Investigation of infectious droplet dispersion in a hospital examination room cooled by split-type air conditioner(Springer, 2024-05-08) Yüce, Bahadir Erman; Kalay, Onur Can; Karpat, Fatih; Alemdar, Adem; Temel, Şehime Gülsün; Dilektaşlı, Aslı Görek; Başkan, Emel Bülbül; Özakın, Cüneyt; Coşkun, Burhan; YÜCE, BAHADIR ERMAN; Kalay, Onur Can; KARPAT, FATİH; ALEMDAR, ADEM; TEMEL, ŞEHİME GÜLSÜN; GÖREK DİLEKTAŞLI, ASLI; BÜLBÜL BAŞKAN, EMEL; ÖZAKIN, CÜNEYT; COŞKUN, BURHAN; Bursa Uludağ Üniversitesi/Yenişehir İbrahim Orhan Meslek Yüksekokulu/İklimlendirme ve Soğutma Teknolojisi Bölümü.; Bursa Uludağ Üniversitesi/Mühendislik Fakültesi/Makine Mühendisliği Bölümü.; Bursa Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Göğüs Hastalıkları Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Dermatoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Enfeksiyon Hastalıkları ve Mikrobiyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Üroloji Anabilim Dalı.The novel coronavirus (SARS-CoV-2) outbreak has spread worldwide, and the World Health Organization (WHO) declared a global pandemic in March 2020. The transmission mechanism of SARS-CoV-2 in indoor environments has begun to be investigated in all aspects. In this regard, many numerical studies on social distancing and the protection of surgical masks against infection risk have neglected the evaporation of the particles. Meanwhile, a 1.83 m (6 feet) social distancing rule has been recommended to reduce the infection risk. However, it should be noted that most of the studies were conducted in static air conditions. Air movement in indoor environments is chaotic, and it is not easy to track all droplets in a ventilated room experimentally. Computational Fluid Dynamics (CFD) enables the tracking of all particles in a ventilated environment. This study numerically investigated the airborne transmission of infectious droplets in a hospital examination room cooled by a split-type air conditioner with the CFD method. Different inlet velocities (1, 2, 3 m/s) were considered and investigated separately. Besides, the hospital examination room is a model of one of the Bursa Uludag University Hospital examination rooms. The patient, doctor, and some furniture are modeled in the room. Particle diameters considered ranged from 2 to 2000 mu m. The evaporation of the droplets is not neglected, and the predictions of particle tracks are shown. As a result, locations with a high infection risk were identified, and the findings that could guide the design/redesign of the hospital examination rooms were evaluated.Publication A rare case of fructose-1,6-bisphosphatase deficiency: A delayed diagnosis story(Walter De Gruyter Gmbh, 2020-10-01) Tuncel, Gulten; Ergören, Mahmut Çerkez; Sag, Sebnem Ozemri; ÖZEMRİ SAĞ, ŞEBNEM; Temel, Sehime Gulsun; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Tıp Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.; 0000-0002-9802-0880; AAH-8355-2021; AAG-8385-2021Objectives: Fructose-1,6-bisphosphatase deficiency (FBPase deficiency, OMIM 229700) is an early-onset rare genetic disorder caused by mutations in the FBP1 gene.Case presentation: Our patient was 17-years-old when she was diagnosed with the disease. Initial sequencing analysis with Ion Torrent technology failed to detect the gross deletion that covered complete exon 2 (c.-24-26_170 + 5192del) of FBP1 gene and caused the delay in diagnosis. Deletion was then detected when sequencing was performed in an Illumina MiSeq platform.Conclusions: This case emphasizes the importance of sequencing data analysis for precise diagnosis of rare diseases and therapy planning.Publication The use of ACE INDEL polymorphism as a biomarker of coronary artery Chock disease (CAD) in humans with Mediterranean-style diet(Elsevier, 2019-02-15) Temel, Şehime Gülsün; Ergören, Mahmut Çerkez; Yılmaz, İzel; Oral, Haluk Barbaros; TEMEL, ŞEHİME GÜLSÜN; Yılmaz, İzel; ORAL, HALUK BARBAROS; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü/Tıbbi İmmünoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/İmmünoloji Anabilim Dalı.; 0000-0002-9802-0880; 0000-0002-1918-2516; AAG-8385-2021; JSK-9450-2023; K-7285-2012The ACE INDEL gene polymorphisms are strongly associated with CAD. Therefore, the present study was undertaken to investigate the relationship between ACE INDEL polymorphism and CAD in Turkish Cypriots whose are expected to have Mediterranean-style diet. 273 Turkish Cypriot descent volunteer subjects (186 controls and 87 CAD patients) participated in this study. Genotyping for the ACE INDEL polymorphism was performed by PCR-RFLP analysis. Biochemical parameters except the glucose and triglyceride lipid level were all within normal limits. Glucose level was found significant (p = 0.019) and triglyceride level was observed at the borderline for significance (p = 0.050) in participants according to WHO guidelines. With the respect to the genotype and allele distributions of ACE INDEL, the results showed statistically significant in CAD patients (p = 0.034) and not significant (p = 0.190) in controls. Haplotype analysis showed that D allele was more frequent in patients compared to controls. Thus, there is a statistically significant association with CAD disease with DD genotypes (p = 0.030) in Turkish Cypriot population.The results indicated that ACE INDEL polymorphism is an important predictor of coronary artery disease in Turkish Cypriots. Although 47% of the studied Turkish Cypriot population carry the D allele (p = 0.07), protocols should be developed for prevention strategies immediately. (C) 2018 Elsevier B.V. All rights reserved.Publication Biallelic mutations in M1AP are associated with meiotic arrest, severely impaired spermatogenesis and male infertility(Springernature, 2020-12-01) Friedrich, C.; Nagirnaja, L.; Oud, M. S.; Lopes, A. M.; van der Heijden, G. W.; Heald, J.; Rotte, N.; Wistuba, J.; Woeste, M.; Ledig, S.; Krenz, H.; Smits, R. M.; Carvalho, F.; Goncalves, J.; Fietz, D.; Turkgenc, B.; Ergoren, M. C.; Cetinkaya, M.; Basar, M.; Kahraman, S.; McEleny, K.; Xavier, M. J.; Turner, H.; Pilatz, A.; Roepke, A.; Dugas, M.; Kliesch, S.; Neuhaus, N.; Aston, K. I.; Conrad, D. F.; Veltman, J. A.; Wyrwoll, M. J.; Tuettelmann, F.; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Anabilim Dalı.; AAG-8385-2021Publication Associations of the itgb3 gene rs5918t>c and the apoa1 gene rs1799837c>t markers with serum lipid metabolism in coronary artery disease patients(Oxford University, 2021-10-01) Conkbayir, C.; Ergoren, M.; Cobanogullari, H.; Balcioglu, O.; Abras, I.; Eminsel, T.; Oztas, D.; Ugurlucan, M.; Temel, S.; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Anabilim Dalı.; 0000-0001-9593-9325; 0000-0002-8935-1477; GQP-2509-2022; AAR-4176-2020; D-8491-2018; AAZ-6885-2021Publication Identification of unsolved rare genetic cases of North Cyprus(Springernature, 2020-12-01) Ergoren, M. C.; Manara, E.; Paolacci, S.; Tuncel, G.; Temel, S. G.; Mocan, G.; Dündar, M.; Bertelli, M.; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi.; AAG-8385-2021Publication Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia(Wiley, 2023-02-01) Kiraz, Aslıhan; Sezer, Özlem; Alemdar, Adem; Canbek, Sezin; Duman, Nilgün; Bişgin, Atıl; Cora, Tülin; Ruhi, Hatice Ilgın; Ergören, Mahmut Çerkez; Geçkinli, Bilgen Bilge; Sağ, Şebnem Özemri; Gözden, Hilmi Erdem; Öz, Özlem; Altıntaş, Zühal Mert; Yalçıntepe, Sinem; Keskin, Adem; Tak, Ayşegüel Yabacı; Paskal, Şeyma Aktaş; Yürekli, Uğur Fahri; Demirtaş, Mercan; Evren, Emine Ünal; Hanta, Abdullah; Başdemirci, Müeşerref; Süer, Kaya; Balta, Burhan; Kocak, Nadir; Karabulut, Halil Guerhan; Çobanoğulları, Havva; Ateş, Esra Arslan; Bozdoğan, Sevcan Tuğ; Eker, Damla; Ekinci, Sadiye; Nergiz, Sueleyman; Tuncali, Timur; Yagbasan, Serap; Alavanda, Ceren; Kutlay, Nuket Yurur; Evren, Hakan; Erdogan, Murat; Altiner, Sule; Sanlidag, Tamer; Gonen, Gizem Akinci; Vicdan, Arzu; Eras, Nazan; Eker, Hatice Kocak; Balasar, Özgür; Tuncel, Gulten; Dündar, Munis; Gürkan, Hakan; ALEMDAR, ADEM; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; Gozden, Hilmi Erdem; Bursa Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü/Translasyonel Tıp Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; ELA-3536-2022; IYV-1877-2023; JMQ-2372-2023; IRT-7350-2023Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease and the development of thrombosis. This study investigated FII and FVL alleles in a cohort of 9508 patients (2606 male and 6902 female) with thrombophilia. It was observed that 930 of these patients had been infected by SARS-CoV-2 causing COVID-19. The demographic characteristics of the patients and their COVID-19 medical history were recorded. Detailed clinical manifestations were analyzed in a group of cases (n = 4092). This subgroup was age and gender-matched. FII and FVL frequency data of healthy populations without thrombophilia risk were obtained from Bursa Uludag University Medical Genetic Department's Exome Databank. The ratio of males (31.08%; 27.01%) and the mean age (36.85 & PLUSMN; 15.20; 33.89 & PLUSMN; 14.14) were higher among COVID-19 patients compared to non-COVID-19 patients. The prevalence of FVL and computerized tomography (CT) positivity in COVID-19 patients was statistically significant in the thrombotic subgroup (p < 0.05). FVL prevalence, CT positivity rate, history of thrombosis, and pulmonary thromboembolism complication were found to be higher in deceased COVID-19 patients (p < 0.05). Disease severity was mainly affected by FVL and not related to genotypes at the Prothrombin mutations. Overall, disease severity and development of thrombosis in COVID-19 are mainly affected by the variation within the FVL gene. Possible FVL mutation should be investigated in COVID-19 patients and appropriate treatment should be started earlier in FVL-positive patients.Publication BRCA variations risk assessment in breast cancers using different artificial intelligence models(Mdpi, 2021-11-08) Şentürk, Niyazi; Tuncel, Gülten; Doğan, Berkcan; Aliyeva, Lamiya; Dündar, Mehmet Sait; Özemri Sağ, Şebnem; Mocan, Gamze; Temel, Şehime Gülsün; Dündar, Munis; Ergoren, Mahmut Çerkez; DOĞAN, BERKCAN; ALIYEVA, LAMIYA; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü/Translasyonel Tıp Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.; 0000-0001-8061-8131; CCG-4609-2022 ; AAH-8355-2021 ; AAD-5249-2020; AAG-8385-2021Artificial intelligence provides modelling on machines by simulating the human brain using learning and decision-making abilities. Early diagnosis is highly effective in reducing mortality in cancer. This study aimed to combine cancer-associated risk factors including genetic variations and design an artificial intelligence system for risk assessment. Data from a total of 268 breast cancer patients have been analysed for 16 different risk factors including genetic variant classifications. In total, 61 BRCA1, 128 BRCA2 and 11 both BRCA1 and BRCA2 genes associated breast cancer patients' data were used to train the system using Mamdani's Fuzzy Inference Method and Feed-Forward Neural Network Method as the model softwares on MATLAB. Sixteen different tests were performed on twelve different subjects who had not been introduced to the system before. The rates for neural network were 99.9% for training success, 99.6% for validation success and 99.7% for test success. Despite neural network's overall success was slightly higher than fuzzy logic accuracy, the results from developed systems were similar (99.9% and 95.5%, respectively). The developed models make predictions from a wider perspective using more risk factors including genetic variation data compared with similar studies in the literature. Overall, this artificial intelligence models present promising results for BRCA variations' risk assessment in breast cancers as well as a unique tool for personalized medicine software.Publication Investigation of KCNQI polymorphisms as biomarkers for cardiovascular diseases in the Turkish Cypriots for establishing preventative medical measures(Elsevier, 2019-03-01) Tülay, P.; Ergören, Mahmut Çerkez; Temel, Şehime Gülsün; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Anabilim Dalı.; AAG-8385-2021Potassium channels are important in transmitting electrical signals through potassium ions transport. These potassium channels are made from signals encoded by KCNQ1 gene. KCNQ1 polymorphisms were associated with many diseases, including many metabolic and cardiovascular diseases and therefore they can be employed as biomarkers. In this study we aimed to investigate KCNQ1 polymorphisms in the Turkish Cypriot population to reveal the allele frequencies specific for this population and use these polymorphisms as biomarkers to develop preventative medical measures.The genotypes of KCNQ1 polymorphisms (rs231361, rs231359, rs151290, rs2283228, rs2237895, rs2237896) were investigated for the first time in Turkish Cypriot population. The correlation between genotypes of these polymorphisms and plasma lipid levels in this population was also explored.The results of this study showed that there was significant differences of the allele frequencies of between rs2283228 allele of C and rs2237896 (P > 0.05) in Turkish Cypriot population. There was no association between the genotypes of the six polymorphisms and the lipid metabolism. This study is the first genetic epidemiology study that investigated the allelic frequencies of KCNQ1 polymorphisms associated with metabolic syndromes as well as cardiovascular diseases.This study proves to be crucial since the etiologic determinants and molecular pathology of cardiovascular diseases have not yet clearly understood. This study showed that genome wide association studies should be designed for preventative medicine in the Turkish Cypriot population.