Person: TEMEL, ŞEHİME GÜLSÜN
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TEMEL
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ŞEHİME GÜLSÜN
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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; Tıp Fakültesi; Histoloji ve Embriyoloji Ana Bilim 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 Birt-hogg-dube syndrome: Diagnostic journey of three cases from skin to gene(Korean Dermatological Assoc, 2022-02-01) Gül, Şeref; Dilektaşlı, Aslı Görek; GÖREK DİLEKTAŞLI, ASLI; Temel, Şehime Gülsün; TEMEL, ŞEHİME GÜLSÜN; Hasal, Eda; Başkan, Emel Bülbül; BÜLBÜL BAŞKAN, EMEL; Sag, Şebnem Özemri; ÖZEMRİ SAĞ, ŞEBNEM; Adım, Şaduman Balaban; BALABAN ADIM, ŞADUMAN; Tıp Fakültesi; Tıbbi Genetik Ana Bilim Dalı; 0000-0001-6310-5107; 0000-0001-7099-9647; 0000-0002-9802-0880; AAG-8385-2021; AAH-8355-2021Birt-Hogg-Dube syndrome (BHDS) is a rare disorder characterized by the triad of cutaneous lesions, renal tumors, lung cysts and inactivation of the gene folliculin (FLCN). Here, we present three female patients diagnosed with BHDS. First case a 55-year-old female had flesh moles histopathology compatible with angiofibroma, multiple cysts in the lung and kidneys, FLCN gene mutations ('c.1285dupC [p.His429Profs*]' 11th exon and 'c.653G>A [p.Arg258His]' 7th exon). The second case a 76-year-old female had trichodiscoma on her skin, multiple cysts in the lung, spontaneous pneumothorax, FLCN gene mutation 'c.1285dupC (p.His429Profs*27) 11th exon' and, her son had renal carcinoma history under 50 years of age. Our third case, also the daughter of case 2, had dermal papules histopathology compatible with trichodiscoma, spontaneous pneumothorax, FLCN gene mutation 'c.1285dupC (p.His429Profs*27) 11th exon' and, parotid oncocytoma. Through our cases, we document the first case of two mutations ('c.1285dupC [p.His429Profs*]' 11th exon and 'c.653G>A [p.Arg258His]' 7th exon) in the same FLCN gene and the 11th known case of parotid oncocytoma associated with BHDS in the light of the literature.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; Tıp Fakültesi; Histoloji ve Embriyoloji Ana Bilim DalıThe 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 yPsychomotor delay in a child with Achondroplasia(Springernature, 2019-07-01) Ergoren, M. C.; Aliyeva, L.; Eren, E.; Manara, E.; Paolacci, S.; Mocan, G.; Temel, S. G.; Bertelli, M.; ALIYEVA, LAMIYA; EREN, ERDAL; TEMEL, ŞEHİME GÜLSÜN; Tıp Fakültesi; JPK-3909-2023; AAG-8385-2021; CCG-4609-2022Publication Structural analysis of m1ap variants associated with severely impaired spermatogenesis causing male infertility(Peerj Inc, 2022-03-21) Gerlevik, Umut; Ergören, Mahmut Cerkez; Sezerman, Osman Uğur; Temel, Şehime Gülsün; TEMEL, ŞEHİME GÜLSÜN; Tıp Fakültesi; Tıbbi Genetik Ana Bilim Dalı; 0000-0002-9802-0880; AAG-8385-2021Background: Impaired meiosis can result in absence of sperm in the seminal fluid. This condition, namely non-obstructive azoospermia (NOA), is one of the reasons of male infertility. Despite the low number of studies on meiosis 1-associated protein (M1AP) in the literature, MIAP is known to be crucial for spermatogenesis. Recently, seven variants (five missense, one frameshift, one splice-site) have been reported in the MIAP gene as associated with NOA, cryptozoospermia and oligozoospermia in two separate studies. However, all missense variants were evaluated as variant of uncertain significance by these studies. Therefore, we aimed to analyze their structural impacts on the M1AP protein that could lead to NOA.Methods: We firstly performed an evolutionary conservation analysis for the variant positions. Afterwards, a comprehensive molecular modelling study was performed for the M1AP structure. By utilizing this model, protein dynamics were sampled for the wild-type and variants by performing molecular dynamics (MD) simulations.Results: All variant positions are highly conserved, indicating that they are potentially important for function. In MD simulations, none of the variants led to a general misfolding or loss of stability in the protein structure, but they did cause severe modifications in the conformational dynamics of M1AP, particularly through changes in local interactions affecting flexibility, hinge and secondary structure.Conclusions: Due to critical perturbations in protein dynamics, we propose that these variants may cause NOA by affecting important interactions regulating meiosis, particularly in wild-type M1AP deficiency since the variants are reported to be homozygous or bi-allelic in the infertile individuals. Our results provided reasonable insights about the MIAP structure and the effects of the variants to the structure and dynamics, which should be further investigated by experimental studies to validate.Publication Arterial tortuosity syndrome: 40 new families and literature review (vol 20, pg 1236, 2017)(Nature Publishing Group, 2019-08-01) Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul J.; Cousin, Margot A.; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; Devriendt, Koenraad; De Wandele, Inge; Deyle, David R.; Dietz, Harry; Dupuis-Girod, Sophie; Fontenot, Eudice; Fischer-Zirnsak, Bjoern; Gezdirici, Alper; Ghoumid, Jamal; Giuliano, Fabienne; Baena, Neus; Haider, Mohammed Z.; Hardin, Joshua S.; Jeunemaitre, Xavier; Klee, Eric W.; Kornak, Uwe; Landecho, Manuel F.; Legrand, Anne; Loeys, Bart; Lyonnet, Stanislas; Michael, Helen; Moceri, Pamela; Mohammed, Shehla; Muino-Mosquera, Laura; Nampoothiri, Sheela; Pichler, Karin; Prescott, Katrina; Rajeb, Anna; Ramos-Arroyo, Maria; Rossi, Massimiliano; Salih, Mustafa; Seidahmed, Mohammed Z.; Schaefer, Elise; Steichen-Gersdorf, Elisabeth; Temel, Şehime; Uysal, Fahrettin; Vanhomwegen, Marine; Van Laer, Lut; Van Maldergem, Lionel; Warner, David; Willaert, Andy; Collins, Tom R., II; Taylor, Andrea; Davis, Elaine C.; Zarate, Yuri; Callewaert, Bert; TEMEL, ŞEHİME GÜLSÜN; UYSAL, FAHRETTİN; BOSTAN, ÖZLEM MEHTAP; ÇİL, ERGÜN; Tıp Fakültesi; Histoloji ve Embriyoloji Ana Bilim Dalı; AAG-8558-2021; AAG-9324-2021; AAG-8385-2021; AAH-4421-2021Publication Does ovarian stimulation duration make any difference on pregnancy outcomes in poor responder patients undergoing IVF-ICSI cycles with gnrh antagonist protocol?(Elsevier, 2013-09-01) Aybar, F.; Cil, A. P.; Batmaz, G.; Temel, Şehime Gülsün; Kahraman, S.; TEMEL, ŞEHİME GÜLSÜN; Tıp Fakültesi; Histoloji ve Embriyoloji Ana Bilim Dalı; AAG-8385-2021Publication 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; Tıp Fakültesi; Genetik Ana Bilim 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.Publication Novel homozygous missense mutation in NARS1 gene: A new neurodevelopmental disorder with microcephaly(Springernature, 2022-04-01) Temel, Sehime Gülsün; Sağ, Şebnem Özemri; Eren, Erdal; Deniz, Engin; TEMEL, ŞEHİME GÜLSÜN; ÖZEMRİ SAĞ, ŞEBNEM; EREN, ERDAL; Tıp Fakültesi; 0000-0002-9802-0880; 0000-0002-1684-1053; JPK-3909-2023; AAG-8385-2021; AAH-8355-2021Publication Diagnostic efficiency of clinical exome solution panel in patients with hearing loss/hereditary deafness by using next generation sequencing(Springernature, 2020-12-01) ; Sağ, Şebnem Özemri; ÖZEMRİ SAĞ, ŞEBNEM; Alemdar, A.; ALEMDAR, ADEM; Yılmaz, M.; Aliyeva, L.; ALIYEVA, LAMIYA; Temel Şehime Gülsün; TEMEL, ŞEHİME GÜLSÜN; Tıp Fakültesi; Genetik Top Ana Bilim Dalı; 0000-0002-9802-0880; HIZ-7332-2022; AAH-8355-2021; AAG-8385-2021