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Medikal uygulamalarda yaygın olarak kullanılan elektrokardiyogram (EKG) işaretleri, aldatma saldırılarına karşı güçlü kılan yaşam işareti olma özelliği sayesinde, biyometrik uygulamalar için bir biyometrik büyüklük olarak kullanılmaya başlanmıştır. Bilgisayar sistemlerinin hesaplama güçlerinin artmasına bağlı olarak kişi tanıma ve sınıflandırma doğruluğunu arttırmak amacıyla son yıllarda EKG biyometrik tanıma için birkaç evrişimsel sinir ağı (ESA) tabanlı yöntem sunulmuştur. Bu çalışmada, QRS (QRS dalgası) imgeleri ve 2 boyutlu ESA yapısı kullanılarak EKG işaretleri tabanlı bir biyometrik tanıma yöntemi önerilmiştir. Önerilen yöntemde, ilk olarak EKG işaretleri gürültü temizleme ve QRS belirleme algoritmalarından geçirilerek QRS bölütlerine ayrılmıştır. Elde edilen bu bölütler R noktalarına göre hizalandıktan sonra 256x256 büyüklüğünde QRS imgesi olarak adlandırılan 2 boyutlu EKG işaretlerine dönüştürülmüştür. Son olarak elde edilen bu QRS imgelerinin giriş olarak uygulandığı 2 boyutlu bir ESA modeli geliştirilerek biyometrik tanıma gerçekleştirilmiştir. Önerilen yöntemin başarımı diğer ESA tabanlı EKG biyometrik tanıma yöntemleri ile karşılaştırmalı olarak incelenmiştir. Önerilen yöntem 46 kişiden oluşan bir EKG veri kümesi üzerinde %98.08 doğruluk oranı ve %99.275 kişi tanıma oranı sağlamıştır. Electrocardiogram (ECG) signals, which are commonly used in medical applications, have been started to use as a biometric modality for biometric applications thanks to its liveness indicator that makes it stronger against spoofing attacks. Due to improving computational power of computer systems, several convolutional neural network (CNN) based methods have been recently proposed for ECG biometric identification in order to increase identification performance and classification accuracy. In this work, we proposed an ECG based biometric identification method using QRS (QRS wave) images and two-dimensional CNN. In the† proposed method, ECG signals were segmented by applying noise removing and QRS detection algorithms. After these segments were aligned according to their R-points, they were transformed to two-dimensional ECG signals called QRS images of size 256x256. Finally, biometric identification task was achieved by developing a CNN based ECG biometric identification method which uses the QRS images as an input. The identification performance of the proposed method was compared to other CNN based ECG biometric identification methods proposed in the literature. The experimental results show that the proposed method provides an accuracy of 98.08% and an identification rate of 99.275% for a public ECG database of 46 persons.

© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.

Background: Thyroid cancer is the most common malignancy of endocrine system. Genome Wide Association Studies (GWAS) revealed a number of common variants associated with thyroid cancer risk. In this study, we aimed to investigate the association of these known variants with thyroid cancer risk in a Turkish population living in Trakya region. Methods: The study included 97 cases of differentiated thyroid cancer and 379 healthy controls. Real-Time Polymerase Chain Reaction (RT-PCR) method was used for the genotyping of rs965513, rs944289, rs966423 rs2439302 polymorphisms. Results: There was no statistically significant difference between patients and controls in terms of SNP genotype and allele frequencies. The distribution of cumulative genetic risk scores between patients and controls was also not significantly different. In the multiple logistic regression analysis (MLR), it was observed that the relationship of rs2439302 polymorphism GG genotype with thyroid cancer risk has a trend to be significant ((p = 0.067, 95%CI: 2.947 (0.928-9.357)). Conclusion: We suggest that the confirmation of the association of common variants with thyroid cancer in different populations will contribute to make a consensus on global risk alleles. The marginal significance of the association of rs2439302 with thyroid carcinoma risk shown in our study supports the need for functional studies on the role of this polymorphism in thyroid carcinoma. Trakya University Scientific Research Projects UnitTrakya University [TuBAP 2016/132] This study has been financially supported by the Trakya University Scientific Research Projects Unit (TuBAP 2016/132) .

Tekrarlayan gebelik kaybı (TGK), üreme sağlığında önemli bir problemdir. TGK vakalarının yaklaşık %50'sinin nedeni açıklanamamıştır. TGK etiyolojisinde genetik temeli anlamak, teşhis ve prognoz için önemlidir. Bu nedenle çalışmamızda kadın üreme sisteminde önemli işlevleri olan KHDC3L, NLRP2 ve NLRP7 genlerinin TGK ile ilişkisini araştırmayı amaçladık. Çalışmaya Trakya Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalı Genetik Hastalıklar Tanı Merkezi polikliniğine TGK öyküsü ile başvuran 96 kadın hasta dahil edildi. Hastalarda KHDC3L, NLRP2 ve NLRP7 genleri NGS yöntemi ile olası varyasyonlar açısından analiz edildi. NLRP7 geninde rs73055288, rs1276342435, NLRP2 geninde rs200815567, rs199475713, rs147585490, rs149897717, rs145361990 ve KHDC3L geninde rs1032302298, rs553706174 varyasyonlarını saptadık. Çalışmamızda açık erişimli veri tabanlarında ve/veya ACMG-2015 kriterlerine göre “patojenik, olası patojenik varyasyon” saptanmadı. Çalışmamızda saptamış olduğumuz sekiz varyasyonun global allel frekansı 0.004’den küçüktü (0.004-0.000004). Bu varyasyonların normal fertiliteye sahip kadınlarda da araştırılmasının literatüre önemli katkılar sağlayacağı öngörüsündeyiz. Recurrent pregnancy loss (RPL) is an important problem in reproductive health. The cause of approximately 50% of RPL cases has not been explained. Understanding the genetic basis in the etiology of RPL is important for diagnosis and prognosis. Therefore, in our study, we aimed to investigate the relationship of KHDC3L, NLRP2 and NLRP7 genes with RPL, which have important functions in the female reproductive system. Ninety-six female patients who applied to the outpatient clinic of Trakya University Medical Faculty, Department of Medical Genetics, Genetic Diseases Diagnosis Center with a history of RPL were included in the study. KHDC3L, NLRP2 and NLRP7 genes were analyzed in terms of possible variations by NGS method. We detected rs73055288, rs1276342435 in the NLRP7 gene, rs200815567, rs199475713, rs147585490, rs149897717, rs145361990 in the NLRP2 gene and rs1032302298, rs553706174 in the KHDC3L gene. In our study, no "pathogenic, likely pathogenic variation" was found in open access databases and / or according to ACMG-2015 criteria. The global allele frequency of the eight variations we detected in our study was less than 0.004 (0.004-0.000004). We anticipate that investigating these variations in women with normal fertility will contribute significantly to the literature

Objective: Genetic factors, including Y chromosome microdeletions, are responsible for about 10% of male infertility cases and are particularly associated with azoospermia or severe oligozoospermia. In our study, it was aimed to determine the frequency of Y chromosome microdeletions in the Thrace region and to provide information about the heterogeneous phenotype in infertile male patients with AZF microdeletion. Material and Method: Chromosome analysis and Y chromosome microdeletion analysis were performed on 446 male patients with non-obstructive azoospermia or oligozoospermia, who applied to the Trakya University Hospital Medical Genetics Department Genetic Diseases Diagnosis Center clinic between the years 2011-2019. Results: Y chromosome microdeletion was detected in 19 (4.26%) of 446 cases. Structural chromosomal anomalies were accompanied in 5 of 19 cases with Y chromosome microdeletions. Three hundred fifty-two cases had no Y chromosome microdeletion, 35 (9.94%) of these cases had Klinefelter syndrome, 1 (0.28%) case had Klinefelter syndrome low grade mosaicism, 3 (0.85%) cases had Robertsonian translocation carriage, and 1 (0.28%) had Reciprocal translocation carriage. Conclusion: Y chromosome microdeletion screening in non-obstructive azoospermic or oligosoospermic infertile male patients has prognostic value and affects clinical prognosis. The results of our study support the proposal to perform Y chromosome microdeletion analysis before microTESE in azoospermic or oligosoospermic infertile male patients as reported in the literature., Amaç: Y kromozom mikrodelesyonları dahil olmak üzere genetik faktörler erkek infertilitesi olgularının yaklaşık %10’undan sorumludur ve özellikle azoospermi veya ciddi oligozoospermi ile ilişkilidir. Çalışmamızda Trakya bölgesi’nde Y kromozom mikrodelesyon sıklığını saptamak ve AZF mikrodelesyonu olan infertil erkek olgularda heterojen fenotip hakkında bilgi sunmak amaçlanmıştır. Gereç ve Yöntem: Trakya Üniversitesi Hastanesi Tıbbi Genetik Anabilim Dalı Genetik Hastalıklar Değerlendirme Merkezi Polikliniği’ne 2011-2019 yılları arasında infertilite nedeni ile müracaat eden, non-obstruktif azoospermik veya oligozoospermik 446 erkek olguda konvansiyonel sitogenetik yöntemle karyotip analizi ve Y kromozom mikrodelesyon analizi yapıldı. Bulgular: Dört yüz kırk altı olgunun 19’unda (%4,26) Y kromozom mikrodelesyonu saptandı. Y kromozom mikrodelesyonu saptanan 19 olgunun 5’inde yapısal kromozom anomalileri eşlik etmekteydi. Y kromozomunda mikrodelesyon saptanmayan 352 olgunun 35’inde (%9,94) Klinefelter sendromu, 1’inde (%0,28) düşük oranlı Klinefelter sendromu mozaikliği, 3’ünde (%0,85) Robertsonian translokasyon taşıyıcılığı, 1’inde (%0,28) resiprokal translokasyon taşıyıcılığı saptandı. Sonuç: Non-obstruktif azoospermik veya oligozoospermik infertil erkek olgularda Y kromozom mikrodelesyon taraması prognostik değere sahiptir ve klinik prognozu etkilemektedir. Çalışmamızın sonuçları literatürde bildirilmiş olan azoospermik veya oligozoospermik infertil erkek olgularda mikroTESE öncesinde Y kromozom mikrodelesyon analizi yapılması önerisini desteklemektedir.

Aims: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by telangiectasia, epistaxis, and vascular malformations. Pathogenic mutations were found in ENG, AVCRL1, SMAD4, and GDF genes. In this study, we present our database of patients with hereditary hemorrhagic telangiectasia regarding the phenotype-genotype relations and discuss two novel ENG gene pathogenic variations in two unrelated families. Methods: Next Generation Sequencing analysis was performed on the peripheral blood of nine patients with hereditary hemorrhagic telangiectasia in four unrelated families. All patients were diagnosed with hereditary hemorrhagic telangiectasia according to the Curaçao criteria. Data on treatment and screenings of visceral involvement were recorded from files. Results: We have found a pathogenic variation in either the ENG or ACVRL1 gene in each family. Two novel pathogenic variations in the ENG gene, including NM_000118.3 (ENG): c.416delC (p.P139fs*24) and NM_000118.3(ENG): c.1139dupT (p.Leu380PhefsTer16), were found in the same family. The NM_000020.2(ACVRL1): c.1298C>T (p.Pro433Leu) pathogenic variation in the ACVRL1 gene in our first family and a novel heterozygous likely pathogenic NM_000020.2(ACVRL1): c.95T>C (p.Val32Ala) variation was found in our second family. Seven of the nine patients were treated with thalidomide for controlling bleeding episodes. All patients responded to thalidomide. In one patient, the response to thalidomide was lost and switched to bevacizumab. Conclusion: In hereditary hemorrhagic telangiectasia, certain types of mutations correlate with disease phenotypes and with next generation sequencing methods. New pathogenic variations can be revealed, which might help manage patients with hereditary hemorrhagic telangiectasia

MultiplMyelom (plazma hücreli myelom, myelomatozis veya Kahler hastalığı) kemikiliğinde monoklonal immünglobulin (M protein) yapan plazma hücrelerininkontrolsüz, klonal artışı ile karakterize kronik, progresif ve letal bir hastalıktır.Son 10 yılda özellikle genetikteki teknolojik gelişmeler sonucu, myelomabiyolojisinin ve tedavisinde dramatik ilerleme sağlanmıştır. Tablonun hücreselve moleküler detayının zenginleştirilmesiyle yeni girişim ve prensiplerinözellikle tedavide belirlenmesinde yol gösterici olmuştur. Hastalık prognozuhastalığı oluşturan hücrelerin, morfolojisi, biyolojisi, fonksiyonu ve genetiközellikleri gibi değişkenler tarafından belirlenir. Günümüzde, prognozbelirlenmesinde ve tedavi seçiminde genetik özellikler de dikkate alınmaktadır.MM‟nin gelişimi; mutasyonları, kromozomal translokasyonları ve belki de belirliviral enfeksiyonlar ile tetiklenen çeşitli genetik anormalliklerin etkisini deiçeren çok basamaklı bir olay olarak tanımlanmaktadır. Hastalığın ilerlemesiylekarmaşık genetik anomalilerin arttığı gözlenmiştir. Genetik değişimlerinsaptanmasının sadece klinik prognoz açısından değil aynı zamanda tedaviyealınacak cevabı belirleyip tedavi alternatiflerin seçiminde de yardımcı olacağıbelirtilmiştir., MultipleMyeloma (plasma cell myeloma, myelomatosis or Kahler's disease) is a chronic,progressive, and lethal disease characterized with plasma cells was increased uncontrolledthat produced monoclonal immunoglobulin (M protein) in bone marrow. In the last10 years, especially in genetics, technological developments have resulted indramatic progress in myeloma biology and treatment. Enrichment of cellular andmolecular details for disease has led to new initiatives and principles leadingto choice of treatment. The disease prognosis is determined by variables suchas the morphology, biology, function, and genetic characteristics of the cellsthat make up the disease. Nowadays, genetic features are taken into account indetermining prognosis and selection of treatment. Development of MM; is definedas a multi-step event triggered by mutations, chromosomal translocations,certain viral infections and possibly the effects of various geneticabnormalities. It has been observed that complex genetic anomalies increasewith the progression of the disease. Genetic changes will be helpful not onlyin terms of clinical prognosis but also in choosing therapeutic alternatives byanticipating the response to be taken from the treatment.