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Öğe Becker musküler distrofili geniş bir ailede moleküler ve klinik değerlendirme(2010) Tuğ, Esra; Atasoy, Halil İbrahim; Aydın, Hatip; Ocak, ZeynepAmaç: Becker Müsküler Distrofi (BMD), sıklıkla distrofin geni içindeki fonksiyonel proteinin kısmen değişmesine neden olan mutasyonlar sonucu oluşur. Hipospadias nedeniyle cerrahi operasyon planlanan 9 yaşında bir erkek çocuk rutin kan testleri sırasında artmış serum kreatin kinaz (CK) aktivitesi nedeniyle değerlendirilmek üzere kliniğimize sevk edildi. Probandın 11 yaşındaki kardeşinin serumunda yüksek CK tespit edilmesi ve 2., 3. ve 5. dereceden akrabalarında yüksek CK ve kas güçsüzlüğü bulgularının olması nedeniyle probanda ve kardeşine distrofin geninin moleküler analizi yapılması planlandı. Yöntem: Probanda ve erkek kardeşine distrofin geninin 3, 4, 8, 12, 17,19, 32, 34, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51 ve 52 ekzonları için moleküler genetik analiz yapıldı. DNA 'larının izolasyonu sonrasında multipleks PCR uygulandı ve ürünler agaroz jelde görüntülendi. Bulgular: Bu moleküler analiz ile, probandın ve erkek kardeşinin distrofin geninin 13-19 ekzonlarını içeren bir delesyon taşıyıcısı oldukları gösterildi. Yaş ortalamaları 9-25 arasında değişen ve artmış CK aktivitesi gösteren aile üyelerinin hiçbirinde klinik bulgu mevcut değildi. Probandın 40 yaşında olan dayısı orta derecede kas güçsüzlüğü, annesinin dayısı (60) ise ciddi kas güçsüzlüğü göstermekteydi. Sonuçlar: Moleküler bulgulara dayanılarak, klinik semptomların gelişimi BMD tanısı ile açıklanabilir; ayrıca, ailenin ilk dekadlarda asemptomatık olduğu söylenebilir. Bu rapor, presemptomatik BMD vakalarında, biyokimyasal belirteçler ışığında yapılan moleküler çalışmalar ve ayrıntılı ailesel sorgulanmaların erken tanısal değerini ortaya koymaktadır.Öğe Cochlear involvement in Familial Mediterranean Fever : a new feature of an old disease(Elsevier Ireland Ltd, 2012) Köybaşı, Serap; Atasoy, Halil İbrahim; Biçer, Yusuf Özgür; Tuğ, EsraObjectives: In this study we first aimed to assess the cochlear functions in children with Familial Mediterranean Fever. The second aim was to investigate the correlation between the hearing levels and some clinical features of Familial Mediterranean Fever including the duration of the disease, age at onset, genetic analysis and colchicine use. Methods: Thirty-four children with Familial Mediterranean Fever and 27 age matched children were included in the study. Following otologic examination, all children underwent audiometric evaluation, including Pure Tone Average measurements and Distortion Product Otoaoustic Emission testing. Audiological results of the two groups were compared and correlation between the audiologic status and clinical parameters of the disease like the duration of disease, age at onset, mutations and colchicine treatment were studied. Results: Pure tone audiometry hearing levels were within normal levels in both groups. Hearing thresholds of Familial Mediterranean Fever patients were found to be increased at frequencies 8000, 10,000, 12,500 and 16,000 (p<0.05). In otoacoustic emission evaluation, distortion products and signal-noise ratio of FMF children were lower in the tested frequencies, from 1400 Hz to 4000 Hz (p<0.05). Interaction of the disease duration and age of disease onset was found to predict hearing levels, distortion products and signal-noise ratios of children with Familial Mediterranean Fever (F value = 2.034; p = 0.033). Conclusions: To our knowledge this is the first study demonstrating cochlear involvement in children with Familial Mediterranean Fever which showed increased hearing thresholds at higher frequencies in audiometry together with decreased distortion products and signal-noise ratios demonstrated by distortion product otoacoustic emission testing. Similar studies must be carried out on adult patients to see if a clinical hearing impairment develops. The possible mechanisms that cause cochlear involvement and the effect of colchicine treatment on cochlear functions must be enlightened. (C) 2011 Elsevier Ireland Ltd. All rights reserved.Öğe Craniorachischisis, gastroschisis, and a branchial sinus defect : a case report(Medecine Et Hygiene, 2014) Aydın, Hatip; Yanık, Serdar; Tuğ, Esra; Ahsen, Hilal; Geçkinli, Bilgen Bilge; Yılmaz, Fahri; Boran, ÇetinÖğe Ectrodactyly-ectodermal dysplasia-dlefting (EEC) syndrome: variable clinical presentations in a family(Springer, 2009) Tuğ, Esra; Düzenli, Selma; Aydın, Hatip[No Abstract Available]Öğe The effect of octreotide, an analog of somatostatin, on bleomycin-induced interstitial pulmonary fibrosis in rats(Taylor & Francis Ltd, 2013) Tuğ, Tuncer; Kara, Haki; Karaoğlu, Aziz; Karataş, Fikret; Turgut, Nergiz Hacer; Ayan, Erhan; Boran, Çetin; Tuğ, EsraIn this study, octreotide (OCT), a synthetic sonnatostatin analog, was tested for its beneficial effects in the prevention of interstitial pulmonary fibrosis (IPF) induced by bleomycin (BLM) in rats by histological examination and by evaluating tissue OH-proline levels. Thirty male Wistar rats were divided randomly into three groups: group I: intratracheal (i.t.) BLM (7.5 mg/kg, single dose) + saline solution [0.9% NaCl, subcutaneously (s.c.), once-daily for 7 days]; group II: i.t. BLM (7.5 mg/kg, single dose) + OCT acetate (82.5 mu g/kg, s.c., once-daily for 7 days); and the control group. At the end of the 7 days, lung tissues were excised and examined by histopathological methods. Levels of tissue hydroxyproline (OH-proline) were determined. BLM administration resulted in prominent histopathologic findings, such as diffuse alveolar damage and interstitial pulmonary fibrosis, as well as a significant increase in OH-proline level, as compared to controls. OCT application explicitly attenuated the histopathologic changes to a significant extent. OCT decreased paranchymal fibrosis and structural deformities in BLM-induced lung fibrosis. These results suggest that OCT administration to rats with BLM-induced IPF has a protective effect. Further studies are necessary to reveal the molecular mechanism(s) of OCT-induced protective effect.Öğe The frequency of factor V, factor II and MTHFR mutations in pulmonary thromboembolism cases in the western Black Sea region(2010) Tuğ, Esra; Tuğ, Tuncer; Düzenli Gepdiremen, Selma; Talay, Fahrettin; Aydın, Hatip; Kurt, BaharObjective: Frequently an inherited predisposition for venous thromboembolism (VTE) remains clinically silent until an additional acquired risk factors intervenes. In this study, we aimed to evaluate frequency and distribution of hereditary risk factors leading to development of venous thrombosis in patients with pulmonary thromboembolism (PE). Material and Methods: We investigated two different mutation (Leiden: FVL, G1691A and FVH1299R) of factor V gene, factor II (FII, prothrombin factor) gene mutation (G20210A) and mutations (C677T and A1298C) of methylenetetrahydrofolate reductase (MTHFR) gene in the total 46 patients (58 ± 18.8), 27 females and 19 males, referred to our clinic with diagnosis of PE by Real time PCR by using probe marked with fluorescent dye providing the separation for mutant and wild allelles. We also evaluated distribution of inherited thrombophilia mutations and the family history of VTE. Results: We determined the rate of FVL, FV (H1299R), MTHFR (C677T and A1298C) mutations in our patients as 32.6%, 2.2%, 67.4% ve 63%, respectively. FII (G20210A) mutation could not be determined. Twenty six percent of the patients had only one mutation, while 71.7% of them had two or more mutations. In 77% of individuals with family history, there were two or more mutations. Sixty three percent patients had at least one of MTHFR gene mutations alone. In 34% of the patients, a combination of at least one of MTHFR gene mutations with either FVL or FV (H1299R) mutation was available. In 21.7% patients, the history of VTE was present in the different body part. Inherited thrombophilia with neoplasia was present in 8.7% of patients. Conclusion: In patients with PE, rate of FVL, and mutations (C677T and A1298C) of MTHFR gene was higher than the previous limited data for Turkey. Determination of the relationship between VTE and inherited abnormalities will be useful for society health and familial risk relations, correctly, in addition to diagnosis and following of patients. Moreover, such studies will provide valuable data on the role of interactions for gene-gene and gene-environment in PE. Copyright © 2010 by Türkiye Klinikleri.Öğe Frequency of genetic mutations associated with thromboembolism in the Western Black Sea region(Japan Soc Internal Medicine, 2011) Tuğ, Esra; Aydın, Hatip; Kaplan, Ebru; Doğruer, DilekObjective We aimed to determine the prevalences of important genetic causes of thromboembolism for the first time in the western Black Sea Region of Turkey. Patients and Methods One hundred and eighty-eight patients diagnosed early with thrombophilia were included in the study. The samples were genotyped using real-time LightCycler. Results Of the 188 patients, 179 (95.2%) had one or more mutations. The frequencies of Factor V (FV) Leiden (FVL, G1691A), FV H1299R (A1299G), Factor II (FII G20210A), methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C were 11.7%, 5.6%, 2.5%, 30.4% and 39.1%, respectively. FV1691A was commonly represented in deep venous thrombosis (34.2%). The highest frequencies of FV1299G and FII20210A were in the vascular headache and deep venous thrombosis groups (10% and 10.5%, respectively). MTHFR677T was common in the pulmonary embolism (37%). MTHFR1298C frequency was 55.9% in recurrent abortus. Within-group comparisons yielded significant differences in the distributions of the FVL and FV H1299R mutations (p=0.002 and p=0.039, respectively). Conclusion There were significant positive associations between venous thromboembolism and FVL and FV H1299R. FVL mutation in DVT may be an important predisposing factor that needs to be tested routinely in this population.Öğe Hemifasiyal atrofinin eşlik ettiği Harlequin Sendromu(2012) Polat, Mualla; Tuğ, Esra; Atasoy, Halil İbrahim; Parlak, Ali HaydarHarlequin sendromu, yüzün bir yarısına sınırlı sıcaklık, emosyonel nedenler ve egzersiz ile flashing ve terlemenin olduğu otonomik bir sendromdur. Fasiyal flashing ve terleme “Harlequin işareti” olarak adlandırılır. Bu nadir özellik, “Harlequin işareti”, yüzün flashing gerçekleşmeyen tarafında pre ya da postgangliyonik düzeyde lokalize bir servikal sempatik defisit nedeniyle lokal bir otonomik disfonksiyon gerçekleşmesidir. Konjenital Horner sendromuna neden olan bir lezyonun (pregangliyonik ya da postgangliyonik) muhtemel anatomik bölgesi belirlenmeye çalışıldığında görülebilir. Harlequin sendromu birkaç diğer sendromla da örtüşmektedir. Parry-Romberg sendromu etyolojisi bilinmeyen nadir klinik bir durumdur. Progresif hemifasiyal atrofi olarak da tanımlanır. Asimetrik fasiyal flashing ve terlemesi, ve yüzünün sağ yanında hemifasiyal atrofisi bulunan 9 yaşında erkek çocukta, fasiyal flashing ve terleme egzersiz, ısı artışı, ve emosyonel nedenler ile artmaktaydı.Öğe Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair(Wiley-Blackwell, 2012) Mahmoudi, Hassnaa; Tuğ, Esra; Parlak, Ali Haydar; Atasoy, Halil Ibrahim; Ludwig, Michael; Polat, MuallaHypotrichosis is a rare form of progressive hair loss characterized by sparse and occasionally woolly hair that is curly and breaks easily. Disease-causing mutations in LIPH, LPAR6 and KRT74 have recently been identified. We describe a four-generation pedigree from Turkey following an autosomal recessive pattern, in which the four affected members had hypotrichosis and woolly hair. By sequencing LPAR6 and the use of SNP arrays, we revealed a homozygous loss of the entire LPAR6 gene in the affected individuals. We hypothesize that the 12-kb deletion resulted from illegitimate recombination secondary to slip-replication. The orientation of three Alu repeats around LPAR6 may have provoked the formation of a triple-barrel structure during replication, thereby allowing strand slipping. This first report of complete LPAR6 loss expands the spectrum of known LPAR6 mutations and suggests a novel mechanism for this gene and for the formation of DNA rearrangements in general.Öğe The impact of the D727e polymorphism has no significant role in multi nodular goiter(Macedonian Acad Sciences Arts, 2012) Tuğ, Esra; Şengül, Neriman; Aydın, Hatip; Yılmaz, Edip ErdalInteractions between individual genetic and environ-mental factors determine the onset of the multi nodular goiter (MNG). The thyroid-stimulating hormone receptor (TSHR) gene is a convincing candidate gene in the pathogenesis of certain thyroid diseases including MNG. We investigated the codon 727 polymorphism (p.Asp727Glu, p.D727E) of the human TSHR gene using the polymerase chain reaction-restriction fragment length polymorphim (PCR-RFLP) methods in 31 Turkish patients with MNG and in 30 control subjects, aiming to evaluate the relationship between this polymorphism and MNG. After genomic DNA isolation, PCR amplification was performed using a pair of primers in exon 10 of the TSHR gene that contains the p.D727E polymorphism and digested by theNlaIII (Hin1II) restriction enzyme. We found the CC and CG genotype incidence for the patient group to be 0.71 and 0.29, respectively, and for the control group to be 0.8 and 0.2, respectively. No statistically significant difference was found between the genotype and allele distribution of both groups (p = 0.417 and p = 0.449, respectively). However, the polymorphism is significantly correlated with the low serum level of the TSH (p = 0.047). These results suggest that the p.D727E polymorphism of the TSHR gene may not contribute to the pathogenesis of nontoxic MNG diseases.Öğe Interleukin-10 gene promoter polymorphism in patients with schizophrenia in a region of East Turkey(Taylor & Francis Ltd., 2009) Özbey, Ülkü; Tuğ, Esra; Namlı, MustafaSchizophrenia is one of the most severe psychiatric disorders, with a worldwide incidence of 1%. Immunological abnormalities have been found to be associated with schizophrenia for decades. Cytokines are key proteins involved in the immune system activation. Interleukin-10 (IL-10), an important immunoregulatory cytokine, is located on chromosome 1q31 32, a region previously reported to be linked to schizophrenia in genetic studies. In the present study it was aimed to examine the IL-10 gene promoter region's polymorphic variants in patients with schizophrenia in a population of the Elazig Region of East Anatolia, Turkey. Polymorphisms at position -1082, -819 and -592 in the IL-10 promoter region were determined in 171 Turkish patients who were diagnosed with schizophrenia, based on the DSM-IV, and 168 healthy controls, by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP). We analyzed allele, genotype, and haplotype distributions using a case-control association study. Genotyping was performed by RFLP. Statistically significant differences were observed in both allelic and genotypic frequencies of the -592A/C polymorphism (Allele, P = 0.034, OR = 1.26, 95% CI 1.02 - 1.56; Genotype, P = 0.048), while the other two polymorphisms in distribution of the alleles and genotypes in patients with schizophrenia were not significantly different from those of controls (P > 0.05). Our results show a significant increase of GTA homozygotes (the high IL-10-producing haplotype) in schizophrenic patients compared to control subjects (P = 0.0001). These data suggest that the IL-10 gene promoter polymorphism may be one of the susceptibility factors to develop schizophrenia in the Turkish population, and apparently in all humans.Öğe Lack of an effect of CYP3A4 and MDR1 gene polymorphisms on colchicine pharmacogenetics in the treatment of familial Mediterranean fever(Funpec-Editora, 2013) Doğruer, D.; Tuğ, Esra; Bes, Cemal; Soy, MehmetThe P-gp/MDR1 multidrug transporter mediates detoxification of numerous drugs, including colchicine, and CYP3A4 is key to the biotransformation of colchicine. We investigated the effects of CYP3A4 and P-gp/MDR1 polymorphisms on bioavailability of colchicine in patients with Familial Mediterranean fever (FMF). Forty-eight Turkish patients with FMF treated with colchicine were genotyped for 3435C>T, (-)1A>G, 61A>G, 1199G>A, 1236C>T, 2677G>A, 2677G>T polymorphisms in the P-gp/MDR1 gene and 3435C>T, *1B(-392A>G), *2(15713T>C), *3(23171T>C), *12(21896C>T), *17(15615T>C) polymorphisms in the CYP3A4 gene. Doses of colchicine administered to patients did not differ with respect to P-gp/MDR1 or CYP3A4 gene polymorphism. We also determined the genotype distributions of CYP3A4 and P-gp/MDR1 genes among FMF patients. There was no significant gender difference in the P-gp/MDR1 polymorphism, whereas there were significant gender differences in the frequencies of 15713T>C and 15615T>C polymorphisms in the CYP3A4 gene. No significant relationship was found between colchicine doses that would introduce optimal clinical response and affect the therapeutic dose and CYP3A4 and P-gp/MDR1 gene polymorphisms in these FMF patients.Öğe Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome(Medecine Et Hygiene, 2011) Tuğ, Esra; Perçin, Ferde Emriye; Pala, Elif; Baysoy, GökhanLinkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome: Background: Alport syndrome (AS) is a renal disease that is characterized by proteinuria and progressive renal failure, and often accompanied by sensorineural hearing loss and ocular changes. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. We describe a large Turkish family with X-linked AS. We performed linkage analysis in this family and sequencing to identify the mutation in the proband whose disease was confirmed by renal biopsy. Methods: After genomic DNAs extracted, linkage to the COL4A5 locus was examined using the 2B6 and 2B20, DXS1106, DXS1105 and COL4A5 markers. In addition, COL4A5 gene sequence analysis was performed in the proband Results: Genetic linkage analysis demonstrated co-segregation of the disease. Haplotype analysis showed that the same haplotype was carried by all affected males and obligatory carrier females. Mutation analysis of the proband has revealed a novel nonsense mutation (c.1135C>T; Gln379X) in exon 19 of the COL4A5 gene which may lead to a more severe phenotype in affected family members carrying this mutation. According to GenBank data base, this mutation has not been reported previously. Conclusion: Genetic testing identified a previously undescribed COL4A5 mutation as the cause of the disease.Öğe Mapping of microsatellite instability in endoscopic normal colon(Mary Ann Liebert, Inc, 2012) Tuğ, Esra; Balaban, Hatice Yasemin; Şahin, Ebru KaplanGenomic instability in colorectal cancer (CRC) occurs as either microsatellite instability (MSI) or chromosomal instability. The present study was aimed at examining the MSI for the MLH1 and MSH2 genes in normal colon and polyps, if detected. Four segments of the colon were sampled in 102 subjects during colonoscopy. DNA samples were analyzed for the MSI status according to the Bethesda consensus panel. Family history of any type of cancer or for colon cancer was present in 44.8% and 9.4% of the individuals, respectively. Forty-eight percent of individuals were microsatellite stable for all five markers at all locations, 20% had low MSI status (MSI-L), and 32% had high MSI status (MSI-H). The frequencies of MSI markers differed significantly from each other (p = 0.003). The most frequent positive marker was D17S250. This is the first study which revealed that MSI is present in endoscopically normal-looking colon of normal individuals and, more frequently, in individuals with family histories of CRC. The detection of very early-stage CRC is possible by MSI analysis of DNA mismatch repair genes in colon tissues. This study has revealed crucial information for the use of molecular tests in CRC screening, such as high frequencies of MSI in endoscopically normal colon, which might cause false positivity.Öğe Mefv gene analysis results of patients with probable familial mediterranean(John Wiley & Sons Inc, 2009) Tuğ, Esra; Düzenli, Selma; Doğruer, Dilek; Çağlar, Musa Kazım[No Abstract Available]Öğe Meningomyelocele and renal hypoplasia: a rare case report(Springer, 2009) Aydın, Hatip; Tuğ, Esra; Düzenli, Selma; Erkal, Özgür; Yoldaş, Atila; Karaoğuz, Meral Yirmibeş[No Abstract Available]Öğe Molecular and clinical findings in an extensive family with duchenne/becker muscular dystrophy(Wiley-Blackwell, 2009) Düzenli, Selma; Tuğ, Esra; Doğruer, Dilek; Aydın-Türkoğlu, Şule; Yıldız, Nebil; Kaplan, Ebru[No Abstract Available]Öğe Relationship between primary nodal generalized osteoarthritis with tissue antigens HLA-A and HLA-B in the Western Black Sea region of Turkey(Japan Soc Internal Medicine, 2011) Taşlıgil, Cemal; Çoğalgil, Şirzat; Tuğ, Esra; Tönük, Şükrü Burak; Şahin, Özlem; Doğruer, DilekObjective To investigate the relationship between patients diagnosed with nodal generalized osteoarthritis (NGOA) and tissue antigens HLA-A and HLA-B in the Western Black Sea Region of Turkey. Patients and Methods Forty-six patients with NGOA (64.74 +/- 8.46) and 60 controls (62.32 +/- 6.8) were included in the study. Inclusion criteria were: (i) stage 2 and higher OA of the hand and knee based on the Kellgren-Lawrence classification, and (ii) stage 2 and higher lumbar disc degeneration according to Lawrence classification. Family histories were taken from patients. HLA-A and HLA-B were typed by PCR using sequence specific primer. Results The frequencies of HLA-A*02 and HLA-B*38 were 58.7% and 15.2%, respectively, in patients with NGOA, and there was a statistically significant relationship between the disease and HLA-A*02 and HLA-B*38. The relationship between positive family history and HLA-B*44 allele was also statistically significant. In the control group, the frequency of HLA-A*29 was 11.7% and it was statistically significant. Conclusion To our knowledge this is the first study to demonstrate the epidemiologic association between HLA-A*02 and HLA-B*38 with NGOA in our population. We conclude that, HLA-B*44 positivity may be associated with familial NGOA and HLA-A*29 may be a preventive factor against NGOA.Öğe Relationship between the IL-12B promoter polymorphism and allergic rhinitis, familial asthma, serum total IgE, and eosinophil level in asthma patients(Esmon Publicidad S A, 2009) Tuğ, Esra; Özbey, U.; Tuğ, Tuncer; Yüce, H.Background: IL-12B is a strong candidate gene for asthma. Objectives: We investigated the relationship between IL-12B and asthma, allergic rhinitis, familial asthma, and levels of eosinophils and total immunoglobulin (Ig) E in the serum of asthma patients. Methods:The study group consisted of 53 asthma patients and 60 control patients. Serum total IgE levels, eosinophil count, and the presence of allergic rhinitis and familial asthma were determined, and the IL-12B polymorphism was analyzed. Both patients and controls were divided into 3 groups based on their genotypes-homozygous for allele I (All), homozygous for allele 2 (A2), and heterozygous patients, ie, alleles 1 and 2 (A1A2). Each genotype was compared with the other genotypes and the control genotypes. Results: The rates for genotypes A1, A1A2, and A2 were 17%, 40%, and 43%, respectively. Male and female total IgE levels were not different between the groups (P>.05), but they were higher than in the controls (P>.05). The frequencies of allergic rhinitis and familial asthma were not different between the groups (P>.05), although allergic rhinitis in the A1A2 genotype and familial asthma in the A2 genotype were higher than in the controls (P<.05). Conclusions: Our comparison of asthma patients and controls showed that familial susceptibility to asthma may be related to the A2 genotype, whereas coexistence of asthma and allergic rhinitis may be related to the A1A2 genotype. In asthmatic patients, the effects of the IL-12B polymorphism on asthma, allergic rhinitis, familial asthma, eosinophilia and total IgE levels, are controversial. We think that there is a need to investigate this hypothesis in larger series.Öğe Septo-optic dysplasia (morsier's syndrome) and developmental genetics : a case report(Wiley-Blackwell, 2009) Düzenli, Selma; Doğruer, Dilek; Yıldız, Serpil; Aydın, Hatip; Tuğ, Esra[No Abstract Available]
