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Öğe AN AZOOSPERMIC CASE WITH Y ISOCHROMOSOME(John Wiley & Sons Inc, 2009) Turkyilmaz, Aysegul; Oral, Diclehan; Simsek, Selda; Isi, Hilmi[Abstract Not Available]Öğe A case of complete tetraploidy in amniocentesis with normal karyotype in subsequent cordocentesis(Georg Thieme Verlag Kg, 2012) Balkan, Mahmut; Fidanboy, Mehmet; Isi, Hilmi; Akbas, Halit; Kalkanli, Sevgi; Alp, M. Nail; Budak, TurgayWe report a case of complete tetraploidy in amniotic fluid culture obtained at 17 wk of pregnancy. Amniocentesis was performed in this pregnancy because of a high-risk maternal serum screening result and abnormal ultrasound findings. Amniotic fluid was cultured in two flasks. Growth was very slow in one culture with no growth in the other. Harvest was possible after 3 wk, which revealed tetraploidy in all studied plates. Subsequent cordocentesis was performed to confirm the diagnoses of amniocentesis. Chromosomal analysis of the cordocentesis revealed a normal karyotype with 46, XY. A healthy male infant was born at term. This case illustrates that abnormal karyotypes in poor growth cultures could be misleading and should be confirmed by another technique, such as cordocentesis.Öğe Cytogenetic and clinical studies of a male infant with disorder of sexual development: case report(Elsevier Science Inc, 2008) Balkan, Mahmut; Duran, Hatun; Onen, Abdurrahman; Oral, Diclehan; Isi, Hilmi; FIdanboy, Mehmet; Alp, M. NailObjective: To report a translocation between chromosomes 3 and 4: 46, XY, t(3; 4)(p25; q31.3) in a male infant with a disorder of sexual development. Design: Case report. Setting: University hospital. Patient(s): A 1-year-old infant who presented with abnormal location of the urethral meatus. Intervention(s): Cytogenetic analysis, fluorescence in situ hybridization (FISH), and serum concentrations measurement (using peripheral blood), and clinical examination. Main Outcome Measure(s): Karyotype and clinical findings. Result(s): On clinical examination, bilateral testicular volume and phallus were determined to be undersized. Serum concentrations of T and DHEAS were low. G-banding of his chromosomes showed that the patient had a balanced translocation involving chromosomes 3 and 4: 46, XY, t(3; 4)(p25; q31.3). This karyotype finding was confirmed by FISH. The FISH analysis revealed the presence of sex-determining region (SRY). The proband inherited this translocation from his father. His sister had the same translocation. However, the father and sister of the proband were clinically normal. Conclusion(s): The presence of this chromosomal anomaly and hypospadias was unique to our patient compared with others with the 46, XY, t(3; 4) translocation. Although no such association has been reported to date, we think that the severe hypospadias in our case might be associated with this translocation. (Fertil Steril (R) 2008; 90: 2003. e13-e16. (C)2008 by American Society for Reproductive Medicine.)Öğe The effect of ethanol extract of Hypericum lysimachioides on lipid profile in hypercholesterolemic rabbits and its in vitro antioxidant activity(Elsevier Ireland Ltd, 2007) Hakimoglu, Fidan; Kizil, Goksel; Kanay, Zeki; Kizil, Murat; Isi, HilmiHypercholesterolemia, high cholesterol diet and oxidative stress increase serum total cholesterol and LDL cholesterol levels resulting in increased risk for development of atherosclerosis. Antioxidants play an important role in inhibiting and scavenging radicals, thus providing protection to humans against infectious and degenerative diseases. Literature shows that the antioxidant activity is high in medicinal plants. Realizing the fact that, this study was carried out to determine the effect of ethanol extract of Hypericum lysimachioides Boiss var lysimachioides (Guttifera) on serum lipid levels and serum lipid peroxidation in hypercholesterolemic rabbits. The rabbits were divided into four groups and these groups were fed with diets containing standard laboratory diet (Group 1), standard laboratory diet and ethanol extracts of H. lysimachioides (HL) (50 mg/kg body weight) (Group 11), standard laboratory diet, ethanol extracts of HL (50 mg/kg body weight) and cholesterol (100 mg/kg body weight) (Group 111), and finally standard laboratory diet and cholesterol (100 mg/kg body weight) (Group IV), for 5 weeks. Feeding cholesterol increased serum cholesterol and LDL cholesterol levels significantly in Group IV as compared to the other groups. Ethanol extract of HL with high cholesterol diet significantly lowered LDL cholesterol and total cholesterol levels in the rabbits of Group III as compared to the Group IV. The level of serum triacylglycerol was found to be similar to all comparison groups. HDL cholesterol levels were also increased significantly in Groups 11 and III as compared to Group IV. Statistically significant difference was found in Group IV as compared to all other groups. The ethanol extract of HL with high cholesterol diet significantly lowered the serum MDA levels in the rabbits of Group III compared to the Group IV. The histopathological findings confirmed that the ethanol extract of HL restrained the progression of the hydropic degeneration and fatty changes in the liver and some atherosclerotic lesions in the aorta. The in vitro antioxidant activities of ethanol extract of HL was also evaluated. The free radical-scavenging properties of HL (IC50 = 28 mu g/ml) were studied using 1,1-diphenyl-2-picrylhydrazyi (DPPH) assay system. Since plant phenolic compound is one of the phytochemicals possessing radical scavenging activity, the amount of total phenolic compound was also determined in ethanol extract of HL and total phenolic content of one-milligram HL ethanol extract was equivalent to 307 mu g of gallic acid. Total antioxidant activity of ethanol extract of HL was tested by using ferric thiocyanate (FTC) and thiobarbituric acid (TBA) methods. Antioxidative activities of ethanol extract of HL was found to be comparable with Vitamin E. In conclusion, the use of this extract could be useful in the management of cardiovascular disease in which atherosclerosis is important. (c) 2006 Elsevier Ireland Ltd. All rights reserved.Öğe The Effects of Pegylated Interferon Alpha-2a and Alpha-2b Therapy on Chromosomal Aberrations and Mitotic Index in Patients with Chronic Hepatitis B(Ortadogu Ad Pres & Publ Co, 2012) Akbas, Halit; Yalcin, Kendal; Isi, Hilmi; Simsek, Selda; Atay, Ahmet Engin; Budak, TurgayObjective: We aimed to prospectively evaluate the effects of pegylated interferon alpha-2a and alpha-2b therapy on chromosomal aberrations and mitotic index in patients with chronic hepatitis B. Material and Methods: Fifty patients with chronic hepatitis B who underwent pegylated interferon alpha-2a or 2b therapy were evaluated for chromosomal aberrations and mitotic index before the treatment and at the end of 6 months of therapy. Results: Cytogenetic examinations revealed out that there was no significant difference between pre- and post-treatment frequencies of mitotic index and chromosomal aberrations. Conclusion: Interferon alpha-2a and alpha-2b therapy which is associated with common hematologic adverse effects has no significant cytogenetic effect.Öğe Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features(Taylor & Francis Ltd, 2008) Pasa, Semir; Altintas, Abdullah; Devecioglu, Bilge; Cil, Timucin; Danis, Ramazan; Isi, Hilmi; Bayan, KadimFamilial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. Several studies have focused on the differences between frequency of the mutations and their phenotypical manifestations. The aim of this study was to evaluate whether or not this phenotypical variation is associated with the existence of particular mutations. Twelve MEFV(Mediterranean fever) gene mutations were investigated in 119 patients suffering from FMF. Heterozygote M694V(21/119), heterozygote E148Q(21/119), homozygote M694V(17/119) and heterozygote V726A(12/119) mutations were the most common mutations. Patients were grouped according to the presence of the M694V mutation: group I was M694V/M694V, group II was M694V/others, and group III was other/other. Mean severity scores for the groups were 13.94 +/- 4.10, 10.79 +/- 3.01 and 8.31 +/- 2.26, respectively. There were statistically significant differences between the mean severity scores of groups I and II(p = 0.029), groups I and III(p < 0.0001), and groups II and III(p < 0.0001). Diagnosis of amyloidosis was established in four(23%) patients of group I, and three(8%) patients of group II, but in none of the patients in group III. There was also a statistically significant difference between groups I and III(p = 0.046), but not between groups II and III(p = 0.083) and groups I and II(p = 0.317) in terms of amyloidosis development. In conclusion, we found a higher disease severity score and higher prevalence of amyloidosis in FMF patients who were M694V mutation carriers. Many ethnic groups live in Anatolia and more ethnic origin-based studies are needed to determine the real effect of these mutations on disease severity and amyloidosis.Öğe FSHR Single Nucleotide Polymorphism Frequencies in Proven Fathers and Infertile Men in Southeast Turkey(Hindawi Publishing Corporation, 2010) Balkan, Mahmut; Gedik, Abdullah; Akkoc, Hasan; Ay, Ozlem Izci; Erdal, M. Emin; Isi, Hilmi; Budak, TurgayThe influence of FSH receptor (FSHR) variants on male infertility is not completely understood. The present investigation is the first screening study for SNP at nucleotide position -29 in the core promoter region and codon 680 in exon 10 of the FSHR and the effect of the serum levels of FSH on male infertility in Southeast Turkey. The SNPs in codon 680 and at position -29 of the FSHR gene were analyzed by PCR-RFLP technique in 240 men with proven fathers, and 270 infertile men (150 nonobstructive azoospermic and 120 severe oligozoospermic). The separate analysis for SNP at nucleotide position -29 did not show any difference in genotypic frequencies and serum FSH levels. The genotype distribution of SNP at position 680 was different but does not influence serum FSH levels. Together the two SNPs form four discrete haplotypes (A-Thr-Asn, G-Thr-Asn, A-Ala-Ser, and G-Ala-Ser) occurring in 10 combinations. A statistically significant difference in the allelic distribution of G-Asn/G-Ser and G-Ser/G-Ser genotype between proven fathers and infertile men but there were not any statistically significant difference in the overall frequency of the four FSHR haplotypes. We conclude that the FSHR haplotype does not associate with different serum FSH levels but it is differently distributed in proven fathers and infertile men.Öğe p53 CODON 72 POLYMORPHISM ASSOCIATED WITH HEPATITIS B(John Wiley & Sons Inc, 2009) Akbas, Halit; Isi, Hilmi; Yalcin, Kendal; Tekes, Selahallin; Simsek, Selda; Budak, Turgay[Abstract Not Available]Öğe A RARE CASE MOSAIC 16(John Wiley & Sons Inc, 2009) Turkyilmaz, Aysegul; Oral, Diclehan; Isi, Hilmi; Balkan, Mahmut[Abstract Not Available]
