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Öğe Analysis of genetic polymorphisms associated with intervertebral disc degeneration(C M B Assoc, 2018) Kitis, Serkan; Coskun, Zeynep Mine; Tasdemir, Pelin; Tuncez, Ebru; Zamani, Ayse Gul; Acar, AynurIntervertebral disc degeneration (IVDD) is a common degenerative spinal condition. Recent studies have shown that the incidence of disc herniation and disc degeneration may be explained by genetic factors. In this study, we investigated the link between various polymorphic variants of the vitamin D receptor (VDR), matrix metalloproteinase 2 (MMP2), and insulin like growth factor 1 receptor (IGF1R) genes and IVDD in patients with IVDD, in Turkey. We examined and genotyped 199 patients with IVDD and 197 healthy individuals. Genomic DNA was isolated from the peripheral blood leukocytes of all participants, and analyzed using real-time PCR. Via melting curve analysis, VDR, MMP2, and IGF1R polymorphism variant distributions were determined. The patients with IVDD showed higher frequencies of the VDR ApaI A allele genotype as compared to the control group; however, there were no significant differences in the frequencies or allelic distributions of the IGF1R and MMP2 genotypes between the IVDD patients and the control group. The incidence of IVDD in these Turkish patients is correlated with the VDR ApaI gene polymorphism, but not with the IGF1R and MMP2 polymorphisms.Öğe Analysis of genetic polymorphisms associated with intervertebral disc degeneration(C M B Assoc, 2018) Kitis, Serkan; Coskun, Zeynep Mine; Tasdemir, Pelin; Tuncez, Ebru; Zamani, Ayse Gul; Acar, AynurIntervertebral disc degeneration (IVDD) is a common degenerative spinal condition. Recent studies have shown that the incidence of disc herniation and disc degeneration may be explained by genetic factors. In this study, we investigated the link between various polymorphic variants of the vitamin D receptor (VDR), matrix metalloproteinase 2 (MMP2), and insulin like growth factor 1 receptor (IGF1R) genes and IVDD in patients with IVDD, in Turkey. We examined and genotyped 199 patients with IVDD and 197 healthy individuals. Genomic DNA was isolated from the peripheral blood leukocytes of all participants, and analyzed using real-time PCR. Via melting curve analysis, VDR, MMP2, and IGF1R polymorphism variant distributions were determined. The patients with IVDD showed higher frequencies of the VDR ApaI A allele genotype as compared to the control group; however, there were no significant differences in the frequencies or allelic distributions of the IGF1R and MMP2 genotypes between the IVDD patients and the control group. The incidence of IVDD in these Turkish patients is correlated with the VDR ApaI gene polymorphism, but not with the IGF1R and MMP2 polymorphisms.Öğe Association of Apolioprotein E Polymorphism with Intravitreal Ranibizumab Treatment Outcomes in Age-Related Macular Degeneration(Karger, 2014) Bakbak, Berker; Ozturk, Banu Turgut; Zamani, Ayse Gul; Gonul, Saban; Gedik, Sansal; Yildirim, Selman; Okudan, Suleyman[Abstract Not Availabe]Öğe Association of Apolipoprotein E Polymorphism with Intravitreal Ranibizumab Treatment Outcomes in Age-Related Macular Degeneration(Taylor & Francis Inc, 2016) Bakbak, Berker; Ozturk, Banu Turgut; Zamani, Ayse Gul; Gonul, Saban; Iyit, Neslihan; Gedik, Sansal; Yildirim, M. SelmanPurpose: Genetic factors are known to influence the response to anti-vascular endothelial growth factor (VEGF) treatment in exudative age-related macular degeneration (AMD). The current study was conducted to investigate the association of Apolipoprotein E (ApoE) polymorphism with the treatment response to ranibizumab for exudative AMD.Methods: One hundred nine eyes (109 patients, 59.6% male, mean age 63.847.22 years) treated with intravitreal ranibizumab injections were included in the analysis. Smoking status and lesion type were recorded. Patients were categorized into three groups according to visual acuity (VA) change at 6 months after the first injection: VA loss >5 Early Treatment Diabetic Retinopathy Study (ETDRS) letters (Group 1); VA change between five ETDRS letters gain and loss (Group 2); VA improvement >5 ETDRS letters (Group 3). The association of ApoE gene polymorphisms with the three groups was evaluated.Results: Both smoking status and lesion type showed no significant association with VA change (p=0.12 and p=0.64, respectively). A lower frequency of 2 and a higher frequency of 4 were observed in Group 3 (2.9 and 25.7%, respectively). VA improvement with more than five ETDRS letters was significantly associated with the presence of the 4 genotype (p=0.01).Conclusions: This study demonstrated that carriers of the ApoE 4 polymorphism genotype show demonstrable improvement in VA after treatment with ranibizumab in exudative AMD. ApoE polymorphism identification may be used as a genetic screening to tailor individualized therapeutic approach for optimal treatment in neovascular AMD.Öğe Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene(Wiley, 2023) Turan, Betul; Goktas, Emine; Sonmez, F. Mujgan; Aydin, Halil Ibrahim; Aydogdu, Demet; Zamani, Ayse Gul; Yildirim, Mahmut SelmanCerebral creatine deficiency syndromes (CCDS) are three metabolic diseases characterized by loss of function in three proteins (GATM, GAMT, and SLC6A8) that required in creatine (Cr) synthesis pathway and transport. In this study, we aimed to identify the causal variant in a male who was 12-year-old manifesting intellectual disability (ID), seizures, expressive dysphasia and autism-like behavior. Urinary Cr metabolite measurements and MRI-spectroscopy (MRS) findings were consistent with CCDS. Molecular analysis revealed de novo hemizygous SLC6A8 (NM_005629.4): c.1400 T > G (p.Met467Arg) variant. The variant was not found in ClinVar, (the date of access: April 23th, 2023) and population databases (ExAC, gnomAD, 1000 Genomes, ESP 6500, Turkish Variome, GenomeAsia, Iranome, GME Variome, TOPMed Bravo and 4.7KJPN), it alters the physicochemical properties of the amino acid, the region is moderately conserved across species and in-silico prediction tools (REVEL, CADD, SIFT, PolyPhen2, Mutation Taster, MetaLR, MCAP, MetaRNN and MutPred) unanimously emphasize pathogenicity. Based on this evidence, the variant was interpreted as likely pathogenic according to the ACMG criteria (PS2, PM2,PP3, and PP4-S). This report may further elucidate the nature and phenotypic consequences of SLC6A8 variants.Öğe Del(12)(p13) assocciated with IGH rearrangement in B-cell acute lymphoblastic leukemia with Down syndrome(Springer, 2013) Durakbasi-Dursun, H. Gul; Tokgoz, Huseyin; Tuncez, Ebru; Caliskan, Umran; Zamani, Ayse Gul; Acar, Aynur; Yildirim, M. Selman[Abstract Not Availabe]Öğe Evaluation of immunological abnormalities in patients with rare syndromes(Termedia Publishing House Ltd, 2022) Gul, Yahya; Kapakli, Hasan; Aytekin, Selma Erol; Guner, Sukru Nail; Keles, Sevgi; Zamani, Ayse Gul; Yildirim, Mahmut SelmanIntroduction: Recurrent infections are important problems in syndromic patients. This study aimed to evaluate immunological abnormalities in patients who presented with recurrent infections and were diagnosed with rare syndromes. Material and methods: This retrospective analysis included 14 patients with complaints of recurrent infections, all of whom were diagnosed with a rare syndrome. Results: The study group consisted of patients with Aicardi syndrome, Brugada syndrome, Phelan-McDermid syndrome, trichothiodystrophy, LEOPARD syndrome, Prader-Willi syndrome, Seckel syndrome, trisomy 18 (Edwards' syndrome), Wiedemann-Steiner syndrome, West syndrome, Williams syndrome, 47,XYY syndrome, 16p13 deletion syndrome, and 13q1.3 deletion syndrome. Seven patients (50%) were girls and seven (50%) were boys (mean age, 56.7 +/- 32.9 months; median [range] age: 45.5 [27-153] months). There were high rates of consanguinity (50%), cesarean section delivery (71%), and hospitalization in the intensive care unit (78.5%). No patients had a family history of immunodeficiency. On admission, all patients exhibited humoral and/or cellular immune system abnormalities. During the follow-up period, all T-cell abnormalities were improved after immunoglobulin replacement therapy (IGRT), while B-cell abnormalities persisted. These findings suggested that the patients predominantly had antibody deficiencies associated with mild T- cell abnormalities because of recurrent infections. The rates of infections and hospitalizations were significantly reduced after IGRT (p < 0.001); the rate of intensive care unit admission also significantly decreased (from 78.5% to 21.4%). Two of the three oxygen-dependent patients exhibited improvement therein. IGRT was discontinued in two patients with significant clinical improvement during follow-up. Conclusions: An immunological evaluation should be considered in pediatric patients with rare syndromes and recurrent infections. IGRT may help to improve the prognoses of these patients.Öğe Interchromosomal effect: Report of a father and son, bearing different translocations of the same chromosome, and a review of the current literature(Wiley, 2021) Yildirim, Mahmut Selman; Arslan, Ahmet Burak; Zamani, Ayse GulInterchromosomal effect is a controversial phenomenon postulating that during gametogenesis of translocation carriers, aside from the unbalanced segregation of chromosomes involved in the translocation, other, structurally normal chromosomes might also be affected and segregated abnormally. Here, we present a balanced reciprocal translocation carrier t(15;20)(q11;p13), and his son, bearing a different translocation of chromosome 15, t(15;Y)(q11;q12). To further elucidate the so-far-controversial interchromosomal effect phenomenon, published original articles and case reports about interchromosomal effect were reviewed. The father was a carrier of t(15;20)(q11;p13). His wife's karyotype was normal. During a pregnancy occurred without any preceding procedure, amniocentesis was recommended to the family and performed. Result of the amniocentesis revealed a different translocation of chromosome 15; t(15;Y)(q11;q12). To our knowledge, this is the first report of two generations within a family, bearing different translocations of a chromosome. On top of all previous studies investigating ICE, our case adds an important finding, showing not only the rate of aneuploidies of structurally normal chromosomes, but also the rate of this 'alternating translocations' might be increased in translocation carriers, and this could be an important clue about interchromosomal effects.Öğe Investigation of the relationship between ischemic stroke and endothelial nitric oxide synthase gene polymorphisms [G894T, intron 4 VNTR and T786C](Tubitak Scientific & Technological Research Council Turkey, 2019) Anliacik, Suleyman Omer; Tokgoz, Serhat; Zamani, Ayse Gul; Yildirim, Malunut Selman; Iyisoy, Mehmet SinanBackground/aim: We aimed to investigate the associations between endothelial nitric oxide synthase (eNOS) gene polymorphisms [G894T (rs1799983)], intron 4 (27-bpTR)variable number tandem repeat (VNTR) and T786C (rs2070744), and ischemic stroke in the Anatolian population. Materials and methods: This case-control study included 112 patients with stroke of undetermined etiology and 160 controls. Real-time polymerase chain reaction (RT-PCR) analysis was used to analyze these polymorphisms. Between-group frequencies of alleles and genotypes were compared using binary logistic regression analysis. Results: No significant difference was observed between the two groups in terms of the genotype and allele distributions of the eNOS G894T (rs1799983) polymorphism (P > 0.05). The a alleles and the 4b/a and 4a/a genotypes of the intron 4 (27-bpTR) VNTR polymorphism had significantly higher frequencies in the patient group than in the control group (OR: 2.715, P < 0.001; OR: 3.396, P < 0.001; OR: 10.631, P = 0.016, respectively). On the contrary, the TC genotype and C alleles of the T786C (rs2070744) polymorphism had a significantly lower frequency in the patient group than in the control group (OR: 0.244, P < 0.001, OR: 0.605, P = 0.006, respectively). Conclusion: Our findings indicate that the eNOS G894T and T786C [rs2070744] polymorphisms are not associated with the risk of ischemic stroke, whereas the intron 4 [27-bpTR] VNTR may be a risk factor in the Anatolian population.Öğe MicroRNAs and lung cancer(Turkish Assoc Tuberculosis & Thorax, 2013) Zamani, Ayse Gul; Zamani, AdilMicroRNAs (miRNAs) are a class of non-coding RNAs that hybridize to mRNAs and induce either translation repression or mRNA cleavage. Patterns of altered miRNA expression in cancer may work as molecular biomarkers for tumor diagnosis, prognosis of disease-specific outcomes, and prediction of therapeutic responses. In addition, miRNAs can serve as specific targets for gene therapies. This review summarizes the current knowledge of miRNAs and their roles in lung cancer.Öğe NAT2 Gene Polymorphisms in Turkish Patients with Psoriasis Vulgaris(Hindawi Ltd, 2018) Dursun, Recep; Dursun, Hatice Gul; Zamani, Ayse Gul; Yildirim, Mahmut Selman; Cinar, ElknurPsoriasis is a common, chronic, and autoimmune skin disease. Factors that play a role in etiopathogenesis of psoriasis include internal factors such as genetic susceptibility and immunological factors and external factors such as stress, infection, trauma, drug, and environmental compounds. N-acetyltransferase 2 ( NAT2) is a xenobiotic enzyme that is involved in the metabolism of drugs, environmental toxins, and carcinogens. In this study, we aimed to demonstrate whether the variations in the NAT2 gene lead to a predisposition to psoriasis by affecting the enzyme's ability to metabolize drugs and environmental components or not. Three polymorphisms (rs1799929, rs1799930, and rs1799931) in NAT2 gene were genotyped and compared by real-time PCR method in 260 psoriasis vulgaris patients and 200 healthy controls. There was no difference in the genotype distributions and allele frequencies of polymorphisms between psoriasis vulgaris patients and controls. When the effects of polymorphisms on the clinical features of the disease, such as onset age and severity, are assessed, it has been found that rs1799930 and rs1799929 are, respectively, associated with early onset age and severity of the disease. In conclusion, rs1799929, rs1799930, and rs1799931 polymorphisms of the NAT-2 gene do not appear to be a risk factor for the development of psoriasis. Conversely, they may have an effect on either more severe or early onset cases of the disease.Öğe A new case with a rare nonrandom chromosomal abnormality der(1;15)(q10;q10) associated with trisomy 9 in essential thrombocythemia(Springer, 2013) Acar, Aynur; Bilgin, Aynur Ugur; Zamani, Ayse Gul; Tuncez, Ebru; Yildirim, Mahmut Selman[Abstract Not Availabe]Öğe Novel findings, mini-review and dysmorphological characterization of 16p13.11 microduplication syndrome(Wiley, 2022) Arslan, Ahmet Burak; Zamani, Ayse Gul; Yildirim, Mahmut SelmanThe short arm of chromosome 16 and especially the region 16p13.11 is a chromosome region where many structural variants, especially deletions and duplications, can be observed. Although deletions of this region are clinically well defined, duplications are rare, and so far, there is no established clinical consensus in regard with its clinical picture, and especially the dysmorphic perspective of the disease is far from being clear. A 5-year-and-2-month-old patient who presented with epilepsy, autism and late speech onset complaints was evaluated in our genetics department. On physical examination, unilateral preauricular skin tag and upslanting palpebral fissures were noted. Microarray analysis was performed and reported as ([hg19]: 16p13.11 (14.897.804-16.730.375) x3). The literature review revealed only a few reports about the syndrome, but some dysmorphological findings appear to recur in different reports, which enables a possible characterization. Dysmorphic findings were discussed.Öğe A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype-c.4096A > T(Georg Thieme Verlag Kg, 2020) Arslan, Ahmet Burak; Zamani, Ayse Gul; Pekcan, Sevgi; Yildirim, Mahmut SelmanCystic fibrosis is a chronic multisystemic disease originating from functional alterations in CFTR (cystic fibrosis transmembrane conductance regulator) protein. To date, more than 300 pathogenic variants have been described in the literature. However, the diagnosis of CF, which was thought to become easier after the CFTR gene was identified, became more complicated due to the enormous amount of variations. In this study, we present a patient whose clinical findings were consistent with cystic fibrosis (CF) and showed a homozygous missense change that is not previously reported in the CFTR gene as pathogenic. In the next-generation sequencing analysis, homozygous c.4096A > T single-nucleotide exchange (I1366F [p.Ile1366Phe], missense) was shown in both alleles of the patient' CFTR gene. According to our database analysis, this variant has not yet been previously reported (VarSome, ClinVar, MutationTaster, Ensembl, dbSNP, PubMed). We do consider the change as pathogenic since the patient's findings were compatible with CF and the data analysis was in favor of pathogenicity. The most recent consensus report published in 2017 emphasized the importance of CFTR gene analysis, and this study emphasizes the difficulties of associating CFTR gene variations with a clinical picture and constitutes a new data on the genotype-phenotype correlation of CFTR variants. Also, considering the frequency of CF (according to World Health Organization data, every 1 out of 2,000-3,000 infants is born with CF in European Union countries and every 1 out of 3,500 in the United States) as well as the increasing rate of molecular studies performed on CF patients worldwide, reporting novel variation has an additional value.Öğe A rare case in literature: Isochromosome Xq in Klinefelter syndrome(Wiley, 2019) Simsek, Levent; Zamani, Ayse Gul; Taskapu, Hakan Hakki; Yildirim, Mahmut SelmanBackground: Klinefelter syndrome(KS), affecting 1 in 500-1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary hypogonadism. Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately 0.3% of all KS and associated with normal height and androgenisation compared to classical KS. Here, we present a case of isochromosome Xq variant of KS with similar clinical and cytogenetic findings with the few cases reported before. Materials and Methods: A 25-year-old male patient referred to our clinic with complaint of infertility. He is the son of a consanguineous couple who are first cousins and there was no family history of reproductive difficulty. In physical examination synophrys, prominent ear and small testicles noted. The patient's spermiogram showed azoospermia and scrotal USG revealed testicular atrophy. Results: Karyotype analysis using G-banding resulted as 47, X, i(X)(q10), Y, and STR analysis showed no deletion in AZF and SRY loci of interest. Conclusion: Although several isochromosome Xq variant of KS cases can be found in literature, it is our duty to emphasise the importance of karyotyping for patients with reproductive difficulty who may not have all features of classical Klinefelter syndrome.Öğe Recurrent Proximal 18p Monosomy and 18q Trisomy in a Family due to a Pericentric Inversion(Wiley, 2014) Zamani, Ayse Gul; Acar, Aynur; Durakbasi-Dursun, Gul; Yildirim, M. Selman; Ceylaner, Serdar; Tuncez, EbruHere, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21qter and a deletion of p11.2pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. (c) 2014 Wiley Periodicals, Inc.Öğe Relationship between obstructive sleep apnea and human leukocyte antigen variants(European Respiratory Soc Journals Ltd, 2020) Zamani, Ayse Gul; Yosunkaya, Sebnem; Zamani, Adil; Vatansev, Hulya; Yildirim, Selman[Abstract Not Availabe]Öğe A Shwachman-Diamond Syndrome patient with AML and a del(10p) clone in bone marrow(Springer, 2013) Zamani, Ayse Gul; Tokgoz, Huseyin; Tuncez, Ebru; Caliskan, Umran; Acar, Aynur; Yildirim, Mahmut Selman[Abstract Not Availabe]Öğe A Special Chromosome Imbalance Jumping translocation of 1q in Burkitt Lymphoma(Gazi Univ, Fac Med, 2022) Turan, Betul; Goktas, Emine; Zamani, Ayse Gul; Tokgoz, Huseyin; Yildirim, Mahmut SelmanChromosome 1q gain that confers clonal expansion advantage to tumor cells has been reported in many solid tissue and hematological cancers, in many different forms; sometimes as a derivative chromosome, as isochromosome, or less frequently, due to an imbalance created by a jumping translocation. Although it is known that chromosome 1q gain provide the advantage of clonal expansion to the tumor cells and is relatively common in Burkitt lymphoma/leukemia, its detection in the form of jumping translocation is extraordinarily rare and results of JT containing 1q are controversial. Bone marrow cytogenetic examination performed on a case diagnosed with stage 4 Burkitt lymphoma/leukemia resulted in 46,XY,dup(1)(q21q42),t(8;14)(q24;q32)[5]/46,XY,der(6)t(1;6)(q21;q27),t(8;14)(q 24;q32)[4]/46,XY,t(8;14)(q24;q32), der(11)t(1;11)(q21;q23 )[2]/46,XY[3]. We present the clinical features of the case that was found to have 1q gain in the jumping translocation form to contribute to the literature.Öğe A Special Chromosome Imbalance Jumping translocation of 1q in Burkitt Lymphoma(Gazi Univ, Fac Med, 2022) Turan, Betul; Goktas, Emine; Zamani, Ayse Gul; Tokgoz, Huseyin; Yildirim, Mahmut SelmanChromosome 1q gain that confers clonal expansion advantage to tumor cells has been reported in many solid tissue and hematological cancers, in many different forms; sometimes as a derivative chromosome, as isochromosome, or less frequently, due to an imbalance created by a jumping translocation. Although it is known that chromosome 1q gain provide the advantage of clonal expansion to the tumor cells and is relatively common in Burkitt lymphoma/leukemia, its detection in the form of jumping translocation is extraordinarily rare and results of JT containing 1q are controversial. Bone marrow cytogenetic examination performed on a case diagnosed with stage 4 Burkitt lymphoma/leukemia resulted in 46,XY,dup(1)(q21q42),t(8;14)(q24;q32)[5]/46,XY,der(6)t(1;6)(q21;q27),t(8;14)(q 24;q32)[4]/46,XY,t(8;14)(q24;q32), der(11)t(1;11)(q21;q23 )[2]/46,XY[3]. We present the clinical features of the case that was found to have 1q gain in the jumping translocation form to contribute to the literature.
