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Background/Aim: JAK2 is a gene that provides instructions for making a protein called Janus kinase 2, which is involved in the signaling process that regulates the growth and division of cells. Variations in the JAK2 gene have been associated with several different diseases, including certain blood disorders like myeloproliferative neoplasms (MPNs) and ulcerative colitis (UC). The exact reason for ulcerative colitis is not fully understood. This study aimed to examine the possible role of JAK2 V617F mutation in the etiopathogenesis of ulcerative colitis. Methods: The included patients were selected with UC and with signs of thrombosis. The DNA isolation was carried out from peripheral blood for all included patients. RT-qPCR methods were used to find JAK2 V617F mutations in UC patients with signs of thrombosis. Results: 73.3% of the included patients in this study had 73.3% bloody diarrhea and 80% had abdominal pain. Also, the JAK2 V617F mutation rate was detected in 6.6 % of the patients included in the study. Conclusion: In this study, it was found that the V617F mutation was relatively rare in ulcerative colitis patients and there was no correlation with the JAK2 V617F mutation in most of the ulcerative colitis cases with thrombotic symptoms.

Background: Ulcerative colitis (UC) is a chronic inflammatory bowel disease that develops due to the impaired immune response in genetically susceptible individuals, and its etiopathogenesis is not fully elucidated. This study aimed to evaluate the relationship between interleukin 17 (IL-17A) cytokine, which plays a role in the pathogenesis of ulcerative colitis, and the inflammation-controlled matrix enzymes thrombospondin motifs (ADAMTS)-1, -4, and -5 protein members. Methods: Bowel tissue samples and blood serum from 51 patients with UC and 51 healthy controls were included in this study. mRNA expression levels of the ADAMTS-1, -4, -5, and IL-17A were analyzed by RT-PCR, and immunohistochemical analyses were performed to evaluate ADAMTS-1, -4, -5, and IL-17A proteins in tissue samples. In addition, ELISA analysis determined serum levels of the ADAMTS-1, -4, -5, and IL-17A. Results: RT-qPCR results reveal that the expression of ADAMTS-1, -4, -5, and IL-17A genes in the UC tissue samples were significantly high according to the control tissue samples. Also, ADAMTS-1, -4, -5, and IL-17A proteins revealed enhanced expression pattern UC groups according to the control. Also, ADAMTS-1, -4, -5, and IL-17A protein showed cytoplasmic localization patterns in both control and UC groups. The serum levels of ADAMTS-1,-5, and IL-17A were significantly higher in UC samples than in the control group. Conclusions: We observed a positive correlation between the ADAMTS-1, -5 and IL17A cytokine expression in UC samples. These results provide a new understanding of controlling crucial ADAMTS family protein members by IL-17A cytokines with UC.

Introduction: Chromosomal irregularities include numerical and structural chromosomal anomalies and are examined by cytogenetic methods. These methods include conventional cytogenetic and molecular cytogenetic methods. In this study, it was aimed to detect numerical and structural anomalies that are encountered more frequently with cytogenetic methods and to discuss possible consequences of genetic diseases after clinical evaluation. Method: In this study, 286 cases with postnatal chromosome analysis indication were included. Phytohemagglutinin (PHA) -induced peripheral blood lymphocytes cultures were used for the study. The chromosomes of 20 G-banded metaphases (500-550 band level) were examined for numerical and structural chromosome abnormalities. Twenty G banded metaphases were evaluated according to the 2016 International System for Human Cytogenetic Nomenclature (ISCN). Results: Chromosome anomalies were detected in 30 cases (9%). 20 cases (6,9%) of them were trisomy 21 (down syndrome), 8 cases (2,7%) were gender anomaly, and 2 cases (0.6%) were balanced translocation carriers. Conclusions: Cytogenetic analysis results are consistent with the rates reported in the literature.Balanced translocation carriers are healthy but unbalanced gametes may occur during gametogenesis. Therefore, preimplantation (PGD) genetic diagnosis is recommended in all pregnancies and pregnancy follow-up is recommended. The family is given genetic counseling.

Prostate cancer is a common health problem among men worldwide and most of these prostate cancer cases are related to a dysfunctional mutant Tumor Protein p53 (TP53) gene. However, the CRISPR/Cas9 system can be used for repairing of a dysfunctional mutant TP53 gene in combination with donor single-stranded oligodeoxynucleotide (ssODN) via cells' own homology-directed repair (HDR) mechanism. In this study, we aimed to evaluate the CRISPR/Cas9 repairing efficiency on TP53 414delC (p.K139fs*31) null mutation, located in the TP53 gene, of human prostate cancer cell line PC-3 in combination with ssODNs. According to the next-generation sequencing results, TP53 414delC mutation was repaired with an efficiency of 19.95% and 26.0% at the TP53 414delC position with ssODN1 and ssODN2 accompanied by sgRNA2 guided CRISPR/Cas9, respectively. Besides, qPCR and immunofluorescence analysis showed that PC-3 cells, the TP53 414delC mutation of which were repaired, expressed wild type p53 again. Also, significantly increased number of apoptotic cells, driven by the repaired TP53 gene were detected compared to the control cells by flow cytometry analysis. As a result, sgRNA2 guided CRISPR/Cas9 system accompanied by ssODN was shown to effectively repair the TP53 414delC gene region and inhibit the cell proliferation of PC-3 cells. Therefore, the effects of the TP53 414delC mutation repairment in PC-3 cells will be investigated in the in vivo models for tumor clearance analysis in the near future.

Background/aim: Malignant melanoma is the most common cause of death due to skin cancers. The most common mutations in RAFRASpathway from tumor oncogenes are BRAF and NRAS. In this study, we analyzed the frequency of BRAF and NRAS gene mutationsand investigated their association with clinicopathological features of melanomas in the Turkish population.Materials and methods: 65 primary cutaneous melanoma were included in the study. The mutations were evaluated with real-time PCRbasedPCR-array through allele-specific amplification, and the results were correlated with various clinicopathological characteristics.Results: 52.3% of the patients were female and 47.7% were male. The mean age of the patients with a mutation was lower than thosewithout mutation. 16 patients had BRAF mutation. 12 patients had NRAS mutation. NRAS mutation was statistically more common inmen (P = 0.036). The number of mitoses increased with the increase of the tumor thickness (P = 0.003). There was more mitosis in thepresence of ulceration (P = 0.05). A total of 41.7% of NRAS mutations had adjuvant chemotherapy.Conclusion: We found lower mutation rate when compared to regional studies. NRAS mutation was common in men. This is the firststudy from our region evaluating the prognostic value of clinical stage and necessity of adjuvant treatment with the presence of BRAFand NRAS mutations.

Objective: Coronary artery disease is characterized by atherosclerosis in the vessel wall. Recently, it has been thought that increasing LDL-binding capacity of subendothelial proteoglycan fragments that are formed by protease activity can be responsible for the initiation of atherosclerosis. ADAMTS4 is a member of the versican-degrading proteinases. In vitro studies demonstrated that TGFβ inhibits the expression of ADAMTS4 in macrophages. In this study, we aimed to investigate the role and association between TGFβ1 and ADAMTS4 in coronary artery disease. Methods: A total of 84 cases with atheroma plaque and 72 controls without plaque were analyzed. The severity of disease was determined by Gensini score. TGFβ1 gene polymorphisms were genotyped by the PCR-RFLP method. TGFβ1 and ADAMTS4 serum levels were measured by ELISA method. Statistical analyses of genotypes and their relationship with serum levels were performed by chi-square, student t test and ANOVA. Results: ADAMTS4 levels were higher in cases compared with controls (p

Giriş: Sağlık çalışanları toplam nüfus içinde yaşlı popülasyon oranının giderek artmasından kaynaklanacak demografik değişikliklerin doğuracağı değişim ve gelişmelere hazırlıklı olmalıdır. Biz bu çalışmada Celal Bayar Üniversitesi Tip Fakültesi öğrencilerinin yaşlılığa karşı genel tutumlarının belirlenmesi ve tıp eğitimi sürecinde tutum konusunda sınışar arasındaki farklılıkları tespit etmeyi amaçladık. Gereç ve Yöntem: Bu çalışma, Ekim-Aralık 2014 tarihleri arasında Celal Bayar Üniversitesi Tip Fakültesinde okumakta olan 406 öğrenci üzerinde yürütülmüştür. Verilerin toplanmasında kullanılan anket formu üçbölümden oluşmaktadır. Birinci bölümde öğrencilerinin sosyodemografik özellikleri sorulmuş, ikinci bölümde KOGAN Yaşlılara Karşı Tutum Ölçeği Türkçe formu ve üçüncü bölümde UCLA Geriatrik Tutum Ölçeği Türkçe formu kullanılmıştır. Bulgular: Çalışmaya katılan öğrencilerin yaşaralığı18-27 olup (ortalama yaş=21.04), %60.8'i kız, %91.4'ünün ise çekirdek aile yapısına sahip olduğu görülmüştür. Sınışara göre UCLA toplam puanları değerlendirildiğinde 1. sınıf öğrencilerinin ortalama puanlarının diğer sınışara göre daha yüksek olduğu saptanmıştır. UCLA'ya göre yaşlılara karşı tutumda kadınlarda erkeklere göre anlamlı pozitif tutum saptanmıştır. KOGAN da ise cinsiyet açısından yaşlılara yönelik tutumda herhangi anlamlı bir fark saptanmamıştır. Sonuç: Çalışmada öğrencilerin yaşlılara karşı tutumlarının sınıf ilerledikçe biraz daha olumsuz yönde değiştiği söylenebilir. Ayrıca kız öğrencilerin tutumlarının da daha olumlu olduğu görülmektedir. Normal bireylere nazaran görece incinebilir yapıda olan yaşlı popülasyonun sağlık personelinden beklentileri göz önüne alındığında, hekim sorumluluğunun da artmış olacağı öngörülmek durumundadır. Introduction: Health workers must be prepared for the changes and developments due tothe ever-increasing proportion of elderly individuals within the general population. This study aimed to identify the general attitudes of students of the Faculty of Medicine of Celal Bayar University (CBU) toward senility and evaluate differences in the attitudes of students at different stages of medical education. Materials and Method: This study was conducted between October and December 2014and included a total of 406 students attending the Faculty of Medicine of the CBU. A questionnaire form composed of three sections was used to collect data. Results: The age range of study participants was 18-27 years (average age, 21.04 years),60.8% were females, and 91.4% had a nuclear family structure. When assessing overall UCLAscores according to the stage of medical education, the average scores of first-year students were found to be higher than other year groups. The results of the UCLA questionnaire demonstrated significantly higher overall scores concerning attitudes toward older persons in female students compared with male students. No significant differences in KOGAN questionnaire scoresconcerning attitudes toward older people were observed between male and female students.Conclusion: The findings of the present study indicate that attitudes toward the elderly change negatively as students progress through medical education. In addition, female students hadmore positive attitudes toward elderly patients than male students. Considering the expectationsfrom the healthcare providers of the elderly population, who are more fragile compared to normal individuals, it should be envisaged that the responsibilities of physicians have increased.