Güvem Gümüş-Akay

Publications (19) View all

• Article: [Fragile x premutation in adult psychiatry: four cases and overview of clinical presentation].

  E Cem Atbaşoğlu, Direnç Sakarya, Güvem Gümüş Akay, Ayşegül Sakarya, Ajlan Tükün
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  ABSTRACT: Fragile X carrier status, also named as Fragile X premutation (FraX-PM), is defined by trinucleotide repeat expansions of shorter length compared to those that cause the full syndrome. Its clinical significance has been limited to the risk of further expansion to a full mutation in the offspring of carriers, until it was recently recognized as a clinical syndrome on its own, manifested by unique symptom constellations, as well as a combination of neuropsychiatric signs and symptoms that may be indistinguishable from several commonly seen disorders. The complex heterogeneity of its neuropsychiatric manifestations may render the diagnosis challenging, unless the clinician is familiar with the clinical picture and transmission pattern. We present four cases of FraX-PM, diagnosed in an adult psychiatry setting and confirmed by genetic testing. The aim of this report is to increase familiarity among psychiatric practitioners, since this common condition is seldom included in the current diagnostic practice, which is based on atheoretical definitions.
  Turk psikiyatri dergisi = Turkish journal of psychiatry 01/2013; 24(1):63-7. · 0.43 Impact Factor
• Article: MDR1 gene polymorphisms may be associated with Behçet's disease and its colchicum treatment response.

  Aydin Rustemoglu, Ülker Gül, Güvem Gümüş-Akay, Müzeyyen Gönül, Serbülent Yiğit, Nihan Bozkurt, Aynur Karadağ, Emine Pişkin, Asuman Sunguroğlu, Ahmet Kadıkıran
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  ABSTRACT: Behçet's disease (BD) is a chronic multisystem disorder. Infectious agents, immune system mechanisms, and genetic factors are implicated in the etiopathogenesis of BD, which remains to be explained. The human MDR1 (ABCB1) gene encoder P-glycoprotein (P-gp) plays a key role in drug disposition, serves as a protective mechanism against xenobiotics, and provides additional protection for the brain, testis, and fetus. We investigated the genotype and haplotype distributions of three MDR1 gene polymorphisms (C1236T, G2677T/A, and C3435T) in 104 BD patients and 130 control subjects. The genotyping analysis was performed by using PCR-RFLP methods. No statistically significant differences were found for the genotypic and allelic distributions of three individual single nucleotide polymorphisms (SNPs) in the MDR1 gene between BD patients and control subjects in this study (p>0.05). However, combined genotype and haplotype frequencies have found statistically significant differences between BD and control subjects for some combinations (p<0.05). The CC-GG binary genotype for C1236T-G2677T/A loci couple in particular may have a high degree of predisposition to BD (p=0.009; OR, 3.03; 95% CI, 1.41-6.54). Furthermore, significant differences between colchicine-responsive and -nonresponsive groups were found. Genotypic and allelic distributions of C3435T and G2677T/A loci, as well as their genotype and haplotype combinations, were found to have statistically significant differences (p<0.05). The TT genotype for the C3435T locus (p=0.001; OR, 6.59; 95% CI, 1.86-23.30) and T allele (p=0.009; OR, 2.09; 95% CI, 1.18-3.70) plays a substantial role in the colchicine response. Our study showed that MDR1 genes and their polymorphisms may affect a patient's BD susceptibility and colchicine response.
  Gene 06/2012; 505(2):333-9. · 2.34 Impact Factor
• Article: Potential genotoxic effect of 186Re-HEDP on human lymphocyte cells: in-vitro evaluation with micronucleus-FISH analysis.

  Pinar Ozkal-Baydin, Güvem Gümüş-Akay, Nuray Varol, Aydin Rüstemoğlu, Reyhan Köroğlu, Selcen Yüksel, Ozlem Küçük, Gülseren Aras, Erkan Ibiş, Asuman Sunguroğlu
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  ABSTRACT: Systemic and local therapies can be used to treat painful bone metastases. It has been shown that certain pharmaceuticals such as 186Re (rhenium-186) are effective in the treatment of pains caused by bone metastasis and a correlation between bone metastases and T cells has also been shown. The aim of this study was to investigate the genotoxic effect of 186Re-1,1-hydroxyethylidenediphosphonate (186Re-HEDP) on the cultured peripheral blood lymphocytes using an micronucleus (MN)-fluorescence in-situ hybridization assay. Two lymphocyte cultures, with and without 186Re-HEDP, were set up from 20 healthy individuals. MN frequencies were determined by a classical cytokinesis-blocked micronucleus assay and samples with the highest MN frequencies were used for fluorescent in-situ hybridization analyses with the 'all human centromeres' probe. Our results show a significant increase in the MN frequency in 186Re-treated lymphocytes compared with the untreated group (P<0.001). The frequencies of centromere-positive [CEN(+)] and centromere-negative [CEN(-)] MN in the 186Re-treated and untreated groups were found to be similar; however, the ratio of CEN(-)/CEN(+) MN frequency was lower in 186Re-treated samples. These preliminary results support the idea that 186Re-HEDP is a highly genotoxic radiopharmaceutical and shows a proaneugenic effect. Causing genotoxicity in lymphocytes, especially in T cells, that regulate bone metastases and tumor growth in bone, might be a mechanism of this pharmaceutical to reduce the pain of patients.
  Nuclear Medicine Communications 04/2012; 33(4):415-21. · 1.40 Impact Factor
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  Available from: Güvem Gümüş-Akay

  Article: An investigation of 10 Y-STR loci and the detection of specific haplotype frequencies in Turkish population

  Aydın Rüstemoglu, Güvem Gümüs Akay, Halil Gürhan Karabulut, Ahmet Kadıkıran, Işık Bökesoy
  american journal of molecular biology. 01/2011;
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  Available from: Güvem Gümüş-Akay

  Article: Endothelial nitric oxide synthase gene polymorphism in gastric cancer.

  Müge Tecder Ünal, Halil G Karabulut, Güvem Gümüş-Akay, Yusuf Dölen, Atilla Elhan, Ajlan Tükün, Ali Ekrem Ünal
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  ABSTRACT: Nitric oxide, a labile compound synthesized by nitric oxide synthase, is a major regulator not only of physiological vascular tonus but also of the abnormal vascularity associated with tumors. Endothelial production of nitric oxide regulates blood flow and angiogenesis and reduces tumor cell adhesion to the endothelium. A high concentration of nitric oxide and its metabolites causes DNA damage during nitration, nitrosation and deamination. Both positive and negative effects on carcinogenesis and tumor growth, apoptosis, and cytotoxic mechanisms may be explained by differential susceptibility of tumor cells to nitric oxide-mediated reactions. In this study, three major polymorphisms (786T>C, the 27 base pair variable number of tandem repeats in intron 4, and 894G>T) of the endothelial nitric oxide synthase gene were investigated in gastric cancer and normal tissues of 50 patients with gastric cancer and in the peripheral blood of 98 healthy subjects. We found no significant differences in intron 4a/b and 894G>T (Glu298Asp) allele and genotype frequencies between control and patient specimens. Nevertheless, the genotype and allele frequencies of 786T>C polymorphism were found to be significantly different between the healthy controls and tumor tissues. The results suggest that endothelial nitric oxide synthase 786T>C polymorphism may play a role in the development of gastric cancer.
  The Turkish journal of gastroenterology: the official journal of Turkish Society of Gastroenterology 12/2010; 21(4):338-44. · 0.47 Impact Factor