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Genomic characterization of patients with colorectal cancer
No full textBackgroundHereditary colorectal cancer (CRC) predisposition syndromes account for 5-10% of all diagnosed CRC cases. Lynch syndrome (LS), Familial Adenomatous Polyposis (FAP), and MUTYH-associated polyposis (MAP) are well-characterized hereditary syndromes known to contribute to colorectal cancer predisposition. However, other inherited genetic factors beyond these established conditions remain underexplored. Recent advancements in next-generation sequencing (NGS) have facilitated the identification of germline pathogenic variants (gPV) in cancer predisposition genes, enhancing diagnostic and management strategies for hereditary CRC syndromes. Using this technology, this study aimed to investigate the genetic causes of CRC in 23 Turkish patients belonging to 23 different families.MethodsPatients with a personal or familial history of colorectal cancer (CRC) or polyposis were selected from a cohort of 54 individuals examined between 2019 and 2022. Genetic testing was performed using the TruSight (R) Cancer and Qiaseq panels on the Illumina NextSeq next-generation sequencing (NGS) platform.ResultsA total of 23 variants were identified, including 10 pathogenic or likely pathogenic variants, 5 of which were novel. These germline pathogenic/likely pathogenic variants were detected in the key genes MLH1, MSH6, PMS2, and APC, which are associated with LS and FAP. Variants were also found in other genes, including FANCC, CHEK2, ATM, and MUC16. Additionally, 13 variants of uncertain significance (VUS) were identified, 5 of which were novel. These VUS were detected in the genes MUTYH (linked to MAP), ATR, XRCC3, PALB2, ATM, SYNE1, RAD51D, NF1, ABRAXAS1, ERBB2, FGFR, and CHEK2, necessitating further investigation to determine their potential role in CRC predisposition.ConclusionThese findings highlight the utility of NGS in identifying germline variants linked to hereditary CRC syndromes and emphasize the need for functional studies to assess the pathogenicity of VUS
Tool tip position estimation with artificial intelligence techniques in the industry 4.0 era: An example of digital transformation in industry
No full textDijital dönüşümle makinelerden toplanan sensör verilerinin işlenmesi sayesinde son yıllarda üretimin durmasına neden olabilecek takım tezgahlarının kırılmasını ve aşınmasını oluşmadan önce tahmin etmek için büyük çabalar sarf edilmiştir. Yapay zeka algoritmaları kullanılarak üretimde kesici takımların verilerinden çıkarımlar yapılabilmektedir. Bu çalışmanın temel motivasyonu talaşlı imalatta kullanılan takımlardır. Takımların üretimi sırasında sensörler yardımıyla makineden veri alınmaktadır. Seçilen ayırıcı özelliklerden olan üç eksende konum verilerinin gideceği yerlerin tahmini LSTM, RNN ve ARIMA algoritmaları kullanılarak yapılmıştır. Bu üç algoritma hata oranlarına göre karşılaştırılmıştır. LSTM algoritması en düşük ortalama mutlak hata ve kök ortalama karesel hata oranlarına sahiptir. Elde edilen sonuçlara göre, ayırıcı özellik seçimi ve derin öğrenmeye dayalı tahminin hibrit yaklaşımı ile ekipman ömrünü uzatmak ve ekipman verimliliğini artırmak mümkündür.Thanks to the advancement in the processing of sensor data collected from machines through digital transformation, great efforts have been made i
Boşnak Siyasi Hayatının Evrimi: Dini Bir Hareketten Siyasi Bir Örgüte [1878–1906]
No full textThis article examines the origins of modern political life among the Bosniaks of BiH during the Austro-Hungarian era, focusing on the evolution of their political life and the emergence and activities of the first Bosniak political organization. Additionally, this article researches the political panorama of BiH at the time, including the significant political processes, events, and developments that shaped the fate of this country. The article aims to analyze the political structures of the Bosniaks during the 1878-1906 period, focusing on the processes of their political organization facilities and the developmental course of the political organization. Furthermore, this article researches the reasons behind the establishment of this organization, its evolution, programs, and activities, and its role on the political scene of BiH. Moreover, this article specializes on the organization’s influence on developing national consciousness among the Bosniaks. The research draws upon archival sources and literature in Bosnian, Croatian, Serbian, German, English, and Turkish, employing methods of analysis and comparison to examine the subject comprehensively. © 2025 Elsevier B.V., All rights reserved
Case Series: Extracutaneous Findings of Eosinophilic Fasciitis Patients
No full textObjectiveEosinophilic fasciitis (EF) is a connective tissue disorder characterized by cutaneous changes similar to scleroderma, usually associated with peripheral eosinophilia. This case series highlights clinical findings, particularly extracutaneous involvement, in EF patients to enhance clinician awareness of this rare condition.MethodsEF patients' skin and visceral organ involvement, musculoskeletal findings, laboratory tests (including acute phase reactants, autoantibodies, protein electrophoresis, etc.), magnetic resonance imaging (MRI), skin biopsy results, and treatments were evaluated.ResultsThe patient's age at presentation was 54 (range 23-68), and 50% were female. All patients presented with skin thickening in the distal upper extremities, except for the hands and feet. Notably, 50% of the patients showed involvement in the trunk, while 87.5% exhibited involvement in the distal lower extremities. A total of 87.5% of patients had increased acute-phase reactants, and three-quarters had peripheral eosinophilia. Some patients presented with extracutaneous manifestations such as nonspecific pulmonary nodules, neuropathy, or arthritis. MRI scans on all patients revealed notable thickening, contrast enhancement, and increased signal intensity within the fascia. Treatment involved the initiation of corticosteroids, with 87.5% of patients requiring the addition of an immunosuppressive agent due to an inadequate response. While no hematological malignancies were detected during the follow-up period, solid cancer was detected in one patient.ConclusionPatients diagnosed with EF should undergo a thorough evaluation for extracutaneous involvement, including joints, lungs, and muscles, as well as screening for occult malignancies. In instances where the condition does not respond to steroid therapy, it may be necessary to consider additional immunosuppressive treatments
The relationship of media and technology use status and attitudes of nursing students with self-directed learning skills
No full textIn the contemporary digital era, nursing students rely on digital tools to access information, engage in social interactions, and participate in a range of activities. In light of these developments, it seems reasonable to suggest that an understanding of the ways in which nursing students utilize media and technology, and their attitudes towards these tools, could significantly enhance the planning and implementation of the educational process. Purpose: The objective of this study was to ascertain the relationship between the media and technology use and attitudes of nursing students and their self-directed learning skills. Methods: The study employed a correlational design. Data were collected from 411 nursing students at two universities between March 11, 2024, and April 19, 2024. Data was gathered using the Descriptive Information Form, the Media and Technology Usage and Attitudes Scale (MTUAS), and the Self-Directed Learning Skills Scale (SDLSS). Results: The vast majority of nursing students-95.6 %-used the Internet to follow social media, 76.6 % to research a topic of interest, 74 % to complete homework assignments, and 72.5 % to communicate. A positive, weak and statistically significant relationship was identified between the mean total SDLSS scores and the mean scores obtained from the smartphone usage (r = 0.165), e-mailing (r = 0.253), phone calling (r = 0.133), positive attitudes (r = 0.240) and the preference for task switching (r = 0.168) subscales of the MTUAS. Conclusions: The findings revealed that the participants exhibited high levels of self-directed learning skills, high rates of media and social media use, and a positive attitude towards technology. However, they also demonstrated a high level of anxiety and dependence on technology and a moderate level of negative attitude towards technology. Consequently, it is recommended that the education and training process should be planned by taking these characteristics of the nursing students into consideration and that technology should be appropriately integrated into the interaction with the student
GATA6 and TBX3 gene expressions analysis of indirect inguinal hernia sacs in children
No full textPurpose The aim of the study is to examine the expression levels of the GATA6 and TBX3 genes in hernia sacs from patients with indirect inguinal hernia (IIH) in the Trakya region, T & uuml;rkiye and shed light on the etiology of this common surgical disease in childhood. Materials and methods In this cross-sectional study, GATA6 and TBX3 gene expression and single nucleotide polymorphism analyses were conducted on tissue samples obtained from 20 boys with IIH (study group) and 20 circumcised children (control group) who were operated in Trakya University Hospital, Pediatric Surgery Clinic. The tissue samples were collected from IIH sacs and prepuces. RNA isolation from tissue and complementary DNA (cDNA) synthesis were performed in accordance with the protocols of the kits used. In the DNA sequence variants (DSVs) study, DNA isolation was performed in accordance with the protocol of the kit used Allelic discrimination was also performed for the GATA6 rs1416421760 and rs1040912117 and TBX3 rs968910973 DVSs. Mann-Whitney U test was used to statistically compare the outcomes. Results The expression of GATA6 demonstrated a significant increase (p < 0.001), while TBX3 expression exhibited a significant decrease (p < 0.001) in the study group. In terms of genotype and allele frequencies of GATA6 rs1416421760, rs1040912117, and TBX3 rs968910973 DSVs, no statistically significant difference was found between the study and control groups. Conclusion According to the results of the study, it can be asserted that dysfunctions in the GATA6 and TBX3-mediated stages of the apoptotic pathway may contribute to the development of IIH.Scientific and Technological Research Council of Turkiye (TUBIdot;TAK); Scientific Research Projects Unit of Trakya University [2019/219]Open access funding provided by the Scientific and Technological Research Council of Turkiye (TUB & Idot;TAK). This study was supported by the Scientific Research Projects Unit of Trakya University under project number 2019/219
Drought-Induced genomic and epigenetic variations in Quinoa genotypes revealed by iPBS and CRED-iPBS marker systems
No full textDrought stress significantly impacts crop productivity, yet its influence on genomic and epigenetic variation in quinoa remains poorly understood. This study aimed to assess DNA damage and cytosine methylation alterations in six quinoa genotypes (Titicaca, Rainbow, Moqu Arrochilla, Cherry Vanilla, China, and White) exposed to five irrigation levels (5%, 10%, 25%, 50%, and 100% field capacity). Genomic changes were evaluated using inter-primer binding site (iPBS) markers, while DNA methylation was analyzed via CRED-iPBS. Results revealed genotype-specific polymorphism and genomic template stability (GTS) responses to irrigation stress. Moqu Arrochilla showed the highest GTS (84.6%) under 5% field capacity, while White exhibited the lowest (35.0%) at 50% field capacity. CRED-iPBS analysis indicated both hyper- and hypomethylation events depending on stress intensity, with China and Moqu Arrochilla genotypes displaying the highest polymorphism rates for MspI (42.9%) and HpaII (39.0%), respectively. These findings highlight the drought-induced genomic and epigenetic variability in quinoa, emphasizing the utility of iPBS and CRED-iPBS techniques for screening stress-responsive genotypes. This work contributes to the understanding of stress adaptation and may inform breeding programs targeting drought tolerance
Edirne’de Bir Aile Sağlığı Merkezine Bağlı Nüfusta Kuşaklar Arası Toplumsal Cinsiyet Rolünün Değerlendirilmesi
No full textToplumsal cinsiyet, toplumda zaman içinde ortaya çıkan belirgin sınırlara sahip olmayan bir kavramdır. Toplumda süregelen beklenti ve oluşturulan kurallar ile birlikte, zamanla gelişen sosyokültürel davranış kalıpları “toplumsal cinsiyet rolü” olarak tanımlanabilir. Toplum yapısında önemli yeri olan bir diğer kavram ise “kuşak”tır. Farklı tarihsel aralıklarda doğan bireylerin yetişme tarzı ve davranış kalıpları da farklı olabilir. Bu sebeple kuşaklar arasında toplumsal cinsiyet rol dağılımı da değişebilir. Bu çalışmada Edirne’de bir aile sağlığı merkezinde kayıtlı farklı kuşaklardan bireylerin toplumsal cinsiyet rollerine yönelik tutumlarının incelenmesi amaçlanmıştır. Kesitsel tanımlayıcı nitelikte olan araştırmanın evrenini Edirne Gazimihal Aile Sağlığı Merkezi’ne kayıtlı bireyler oluşturdu. Etik kurul onayı sonrasında, çalışmaya katılmak için gönüllü olan 18 yaş üstü bireyler dahil edildi. Veriler katılımcılara yönelik kişisel bilgi formu ve Toplumsal Cinsiyet Rolleri Tutum Ölçeği kullanılarak toplandı. SPSS 19 programı ile istatistik analiz yapıldı. Tanımlayıcı istatistiksel yöntemler ve non-parametrik testler analiz için kullanıldı. Anlamlılık düzeyi p<0,05 olarak kabul edildi. Çalışmanın sonuçlarına göre toplumsal cinsiyet rollerine yönelik tutumların oluşmasında yaş grupları, eğitim düzeyi gibi toplumsal yapıyı oluşturan çeşitli öğeler etkin rol almaktadır. Bireylerin toplumsal cinsiyet rolleri tutumlarının bilinmesi ve yönetimi, daha sağlıklı aile yapısına ve aile fonksiyonelliğinin olumlu olarak etkilenmesine sebep olacaktır
THE IMPACT OF PROPERTY RIGHTS ON INNOVATION: A RESEARCH ON COUNTRY DATA
No full textThe aim of this study is to determine the impact of property rights on innovation. While many studies analyze the topic at the business level, this study aims to determine the role of property rights in improving innovation performance. The research was conducted based on quantitative research methods using secondary data obtained from various organizations, which are publicly published as innovation indices and datasets referred to as property rights. We conducted correlation and regression analyses using the SPSS software package on both variables published for the year 2022. The analyses have identified a linear and significant relationship between property rights development and innovation indices levels. The regression analysis revealed that these linear relationships are significant. It is vital to develop the elements of property rights as driving forces in the advancement of innovation and to ensure trust in these elements