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    Combination of novel c.3484g > t/p.glu162ter variant in abcb11 and c.208g > a/p.asp70asn variant in atp8b1 are associated with severe symptoms in progressive family ıntrahepatic cholestasis
    (Georg Thieme Verlag Kg, 2020) Bekdaş, Mervan; Can, Güray; Eröz, Recep; Düzcü, Selma Erdoğan
    Progressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in theABCB11gene and a c.208G> A/p.Asp70Asn variant in theATP8B1gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.
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    Endothelial nitric oxide synthase gene polymorphisms (Promoter-786T/C, Exon 894 G/T and intron G10T) in unexplained female infertility
    (Karger, 2014) Karataş, Ahmet; Eröz, Recep; Bahadır, Anzel; Keskin, Fatih; Özlü, Tülay
    Background/Aims: Recent investigations in both males and females show that there may also be some genetic risk factors associated with infertility, and endothelial nitric oxide synthase (eNOS) has important functions in implantation. We aimed to investigate the association of three different polymorphisms of eNOS (promoter -786T/C, exon 894 G/T and intron G10T) with unexplained female infertility. Materials and Methods: Two groups of patients were included in the study: (1) women with unexplained infertility and (2) healthy, fertile women with normal menstrual cycles. eNOS polymorphisms were studied in genomic DNA of each patient by polynnerase chain reaction-restriction fragment length polymorphism method. Results: Forty-one women with unexplained infertility and 40 fertile women were included. Baseline physical characteristics and hormonal parameters of the two groups were similar. For eNOS exon 894 G/T polymorphism, the GG honnozygotes were significantly lower and the heterozygotes GT were significantly higher in the infertile group than in the control group (p < 0.05). eNOS gene polymorphism both for promoter and intron were similar in the two groups (p > 0.05). Conclusion: Altered eNOS protein caused by eNOS exon 894 G/T polymorphism might cause implantation failure, which may be a possible cause of unexplained female infertility. (C) 2014 S. Karger AG, Basel
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    Evaluation of chromosomal abnormalities and common trombophilic mutations in cases with recurrent miscarriage
    (Makerere Univ, Fac Med, 2014) Karataş, Ahmet; Eröz, Recep; Albayrak, Mustafa; Özlü, Tülay; Çakmak, Bülent
    Background: Recurrent miscarriage (RM) is a frequent obstetric problem. Its' pathophysiology is poorly understood. Infections, genetic, endocrine, anatomic and immunologic problems have been suggested as causes for RM. Objective: To evaluate the frequency of chromosomal abnormalities and 3 common thrombophilic mutations in couples with RM. Methods: A retrospective data collection was performed for the results of the cytogenetic analysis of the couples and Methylenetetrahydrofolate Reductase (MTHFR) C677T, Factor V Leiden (FVL) G1691A and Prothrombin (PTm) G20210A mutations of the mother in 142 couples suffering from RM. Results: Prevalence of FVL, MTHFR, and PTm gene mutations were similar between cases shaving 2 or >= 3 abortions (P=0.528; P=0.233; P=0.375). In patients with FVL, MTHFR and PTm gene mutations, the OR's of having >= 3 abortions when compared to having 2 abortions were 1.515 (95% CI: 0.414-5.552), 0.573 (95% CI: 0.228-1.441), and 2.848 (95% CI: 0.355-22.871). All cases with PTm mutation had >= 3 abortions and all abortions occurred between 6-8 gestational weeks. Conclusion: Chromosomal abnormalities and thrombophilic mutations (especially PTm) seem to have an important role in RM. Additional larger studies involving investigation of more genes that may have a role in pregnancy are needed to assess this association.
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    Smoking habits of nurses and midwives and their attitudes tobacco control; a primary care based study from four major cities of Turkey
    (Drunpp-Sarajevo, 2012) Aydın, Leyla Yılmaz; Baltacı, Davut; Öztürk, Serkan; Sarıtaş, Ayhan; Eröz, Recep; Çelepkolu, Tahsin; Yılmaz, Aylin
    It was aimed to investigate smoking habits, knowledge about and attitudes towards tobacco control among nurses and midwifes at primary care settings in Turkey. A cross-sectional survey was applied to nurses/midwives at primary care settings. 1063 surveys were analyzed in the study. Mean age of nurses/midwives was 33.7 +/- 6.3. Current, former and never smokers' ratio among nurses/midwives were 30.1 %, 10.6 % and 59.3 %, respectively. Knowledge of nurses/midwives was observed as quite high. Majority of never smokers significantly marked as higher agreement with items related to knowledge level about smoking by than ever smokers. The lowest ratio was observed in agreement with item of "Pharmacotherapy is efficient for smoking cessation" (46.6 %). the highest ratio was observed in agreement with item of "Health professionals should routinely advise patients to avoid smoking around their children" (97.5 %). Significant differences were observed in statement of agreement with items related to attitudes of the nurses/midwives towards smoking and tobacco control between never and ever smokers. Almost all of the nurses/midwives had no any training course on smoking cessation practice (99.6 %). Majority of them were not competent for preparedness in smoking cessation (competent: 17.4 % vs. incompetent or somewhat: 82.6 %). In conclusion, knowledge and skills in smoking cessation practice and attitudes towards smoking and tobacco control in nurses/midwives were observed as low and somewhat high. Therefore, an appropriate education program should be instituted to increase motivation of them about their role in society and smoking cessation practice.
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    Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted nextgeneration sequencing panel
    (Springer, 2022) Doğan, Mustafa; Eröz, Recep; Bolu, Semih; Yüce, Hüseyin; Gezdirici, Alper; Arslanoğlu, İlknur
    Background Maturity-onset diabetes of the young (MODY), which is the most common cause of monogenic diabetes, has an autosomal dominant pattern of inheritance and exhibits marked clinical and genetic heterogeneity. The aim of the current study was to investigate molecular defects in patients with clinically suspected MODY using a next-generation sequencing (NGS)-based targeted gene panel. Methods Candidate patients with clinical suspicion of MODY and their parents were included in the study. Molecular genetic analyses were performed on genomic DNA by using NGS. A panel of ten MODY-causal genes involving GCK, HNF1A, HNF1B, HNF4A, ABCC8, CEL, INS, KCNJ11, NEUROD1, PDX1 was designed and subsequently implemented to screen 40 patients for genetic variants. Results Ten different pathogenic or likely pathogenic variants were identified in MODY-suspected patients, with a diagnostic rate of 25%. Three variants of uncertain significance were also detected in the same screen. A novel pathogenic variant in the gene HNF1A (c.505_506delAA [p.Lys169AlafsTer18]) was described for the first time in this report. Intriguingly, we were able to detect variants associated with rare forms of MODY in our study population. Conclusions Our results suggest that in heterogenous diseases such as MODY, NGS analysis enables accurate identification of underlying molecular defects in a timely and cost-effective manner. Although MODY accounts for 2-5% of all diabetic cases, molecular genetic diagnosis of MODY is necessary for optimal long-term treatment and prognosis as well as for effective genetic counseling.