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    46, XX, t(8;9)(q22;p24) BALANCED TRANSLOCATION CARRIER WITH HYPOGONADOTOPIC HYPOGONADISM
    (Galenos Yayincilik, 2010) Akbas, Halit; Yalinkaya, Ahmet; Alp, M. Nail; Budak, Turgay
    Balanced autosomal translocations are unusually observed in the patients with hypogonadotropic hypogonadism. The patient with hypogonadotropic hypogonadism had balanced reciprocal translocation involving chromosomes 8 and 9. The patient's father, two brothers and a sister have the same chromosomal translocation with no apparent physicial abnormalities. In this case report; the relation of autosomal translocations mentioned above and hypogonadotropic hypogonadism are discussed.
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    The association of endothelial nitric oxide synthase gene G894T polymorphism and serum nitric oxide concentration with microalbuminuria in patients with gestational diabetes
    (Dustri-Verlag Dr Karl Feistle, 2014) Atay, Ahmet Engin; Akbas, Halit; Tumer, Cemil; Sakar, Mehmet Nafi; Esen, Bennur; Incebiyik, Adnan; Simsek, Selda
    Aim: Gestational diabetes mellitus (GDM) is a glucose intolerant condition that affects 14% of all pregnancies. Diabetes mellitus (DM) occurs in 30 - 70% of patients with GDM after delivery. DM and GDM are associated with structural and functional deterioration of the renovascular system. Our aim is to investigate the association Glu-298Asp polymorphism of the endothelial nitric oxide synthase (eNOS) gene with serum nitric oxide levels and microalbuminuria in patients with GDM and healthy pregnancies. Material and methods: Serum nitric oxide (NO) levels, urinary excretion of albumin and Glu298Asp polymorphism of the eNOS gene were analyzed in 68 patients with GDM and 73 healthy controls. High performance liquid chromatography (HPLC-Griess) method was used to analyze serum NO levels. Microalbuminuria was evaluated by rate nephelometry method. The Glu298Asp polymorphism of the eNOS gene was determined by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Results: Nitric oxide, glucose, creatinine, and microalbuminuria were significantly different between the patients and the control subjects (p = 0.001, p = 0.001, p = 0.002, and p = 0.005, respectively). There was a significant difference between groups in terms of the ratio of GG/GT+TT of eNOS gene Glu298Asp (p = 0.02). The patients with GT+TT genotype had significantly higher microalbuminuria levels and lower NO concentrations (22.16 vs. 9.51, p = 0.005, and 10.56 vs. 12.73, p = 0.021, respectively). The presence of T allele of eNOS gene is an independent predictor of microalbuminuria (OR: 2.346, 95% confidence interval: 1.247 - 5.238, p = 0.02) as well as serum glucose and NO concentration. Conclusion: The G894T polymorphism of eNOS gene and decreased NO concentration seem to be independent predictors of increased urinary excretion of albumin in patients with GDM. Determining the frequency of eNOS gene G894T polymorphism may help to identify pregnancies at increased risk of microalbuminuria.
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    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, Turgay
    We 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.
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    Cytogenetic screening in couples with Habitual Abortions
    (Elsevier Masson, Corporation Office, 2019) Sak, Sibel; Incebiyik, Adnan; Hilali, Nese Gul; Agacayak, Elif; Uyanikoglu, Hacer; Akbas, Halit; Sak, Muhammet Erdal
    Objective: Habitual abortion (HA) is defined at least three consecutive pregnancy losses. One of the etiologic causes is parental chromosomal anomalies. In this study, we aimed to that investigate the effect of parental chromosomal abnormalities on HA. Methods: The cytogenetic results of patients with at least three abortions referred to our university hospital between January 2010 - March 2017 were evaluated. A total of 1154 couples with HA were analysed. Peripheral lymphocyte cultures incubated for 72 h were used for karyotype analysis via the Giemsa banding technique. Results: Of a total 1154 couples (2308 patients) 37 female (3.2%) and 17 male (1.47%) had abnormal karyotypes. Reciprocal translocation carriage (n = 26; 1.12%) was the most commonly detected structural anomaly, followed by X chromosome mosaicism (n = 16; 0.69%), Robertsoniantransiocation (n = 9; 0.38%), Chromosomal inversion (n = 6; 0.26%). Chromosomal polymorphisms, which are considered minor chromosomal changes, were detected in 221 (9.57%) individuals. Conclusion: Our study exhibits that chromosomal analysis in patient with HA is an appropriate approach to elucidate the aetiology of HA. Data from cytogenetic screening can be used in guiding couples planning future pregnancies and in prenatal diagnosis of chromosomal anomalies in the foetus. (C) 2018 Published by Elsevier Masson SAS.
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    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, Turgay
    Objective: 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.
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    THE EVALUATION OF PARAOXONASE 1 ACTIVITY IN PATIENTS WITH GESTATIONAL DIABETES
    (Carbone Editore, 2013) Atay, Ahmet Engin; Sakar, Mehmet Nafi; Culcu, Nurdagul Serife Nurani; Simsek, Hakki; Akbas, Halit; Acar, Murat; Isik, Birgul
    Material and methods: Sixty five patients with GDM and 66 healthy pregnants were enrolled. Paraoxonase activity, insulin levels, HOMA-IR, demographic features and anthropometric measurements were evaluated. Results: The mean paraoxonase activity was significantly diminished in patients with GDM (p:0,004). Insulin level and HOMA-IR were significantly higher in GDM patients (p:0,004 and p:0,001; respectively). The mean interval between present and previous pregnancy was significantly shorter in patients group (p:0,004). There was a significant correlation between PON1 activity and serum LDL, HDL levels and weight gained during pregnancy (p:0,001,p<0,001 and p:0,002; respectively) but not with weight and parity. However HOMA-IR was significantly correlated with weight and parity (p:0,001 and p:0,002; respectively). Discussion: Diminished PON1 activity and enhanced oxidative stress accompany to insulin resistance in the pathogenesis of GDM. Oxidative stress is associated with weight gained during first 2 trimesters of pregnancy rather than obesity.
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    GENETIC ANALYSIS IN PREGNANCY WITH FETAL PATHOLOGIC ULTRASOUND FINDINGS
    (Diagnosis Press Ltd, 2013) Simsek, Selda; Turkyilmaz, Aysegul; Oral, Diclehan; Yalinkaya, Ahmet; Tekes, Selahaddin; Akbas, Halit; Budak, Turgay
    The aim of this study was to investigate the relationship between fetal abnormal karyotype and fetal abnormal ultrasound examination in pregnancy A total of 191 women were analyzed for karyotyping after detection of a soft marker or of major malformations at the routine antenatal USG, for the period 2007-2011. A total of 191 amniotic fluid samples were analyzed for chromosome aberrations and the fetal karyotype was abnormal in 24.6 % (47/191) of all cases. Among them, 13 cases were with trisomy 21; 5 cases with trisomy 18; 1 case with trisomy 13; 2 cases with triploidy; 7 cases with karyotype of 45,X; 1 case with karyotype 47,XXY; and 18 cases with other abnormal chromosome structures. One hundred and fifty-two karyotyping procedures were done due to the finding of a single sonographic marker Within this group, 17.1 % of the karyotypes were abnormal. Thirty-nine karyotyping procedures were done due to the finding of a multiple sonographic marker In this group, 53.8 % of the karyotypes were abnormal. The overall termination rate was 61.7 % (29/47) in cases with a fetus affected by chromosomal abnormalities. Ultrasound examination is important in prenatal diagnosis. We suggest that karyotype analysis should be advised to pregnant women with an abnormal fetus in the ultrasound examination.
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    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]
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    Parental Decisions Regarding a Prenatally Detected Fetal Chromosomal Abnormality and the Impact of Genetic Counseling: An Analysis of 38 Cases with Aneuploidy in Southeast Turkey
    (Springer, 2010) Balkan, Mahmut; Kalkanli, Sevgi; Akbas, Halit; Yalinkaya, Ahmet; Alp, M. Nail; Budak, Turgay
    This study investigated parental decision-making to terminate or continue a pregnancy after prenatal diagnosis of a chromosomal abnormality among a sample of patients in Southeast Turkey. Between 2004 and 2007, 1068 amniocentesis tests were performed in the Medical Biology and Genetic Department Laboratory at Dicle University. Aneuploidy was found in 38 cases (3.56%). Genetic counseling was provided for the couples that received abnormal results, and they were later interviewed and asked if they had continued or interrupted the pregnancy after the diagnosis. When confronted with autosomal aneuploidy in which a severe prognosis was expected, 85% of cases decided to terminate the pregnancy. When confronted with sex chromosome aneuploidy with a low risk of an abnormal clinical phenotype 60% of cases decided to continue the pregnancy. Among the diagnoses with aneuploidy, pregnancy was continued in 21.1% of cases due to religious beliefs regardless of whether there was a low or severe risk of an abnormal clinical phenotype. These findings indicate that both severity of abnormality and religiosity play an important role in genetic counseling patients' decision-making processes and outcomes in Turkey. In addition, the findings suggest the need for legislation that reduces the differences in approaches between the physicians and institutions regarding parental decision-making to terminate or continue a pregnancy in our country.
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    The possible role of XRCC1 gene polymorphisms with idiopathic azoospermia in south-east Turkey
    (Elsevier Science Bv, 2018) Akbas, Halit; Balkan, Mahmut; Binici, Mahir; Gedik, Abdullah
    [Abstract Not Available]
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    The Possible Role of XRCC1 Gene Polymorphisms with Idiopathic Non-obstructive Azoospermia in Southeast Turkey
    (Urol & Nephrol Res Ctr-Unrc, 2019) Akbas, Halit; Balkan, Mahmut; Binici, Mahir; Gedik, Abdullah
    Purpose: X-ray repair cross-complementing group I (XRCC1) plays a role in repairing DNA damage during spermatogenesis. We examined the effects the possible role of two single nucleotide polymorphisms of XRCC1 Arg194Trp and Arg399Gln in DNA repair gene XRCC1 with risk of idiopathic non-obstructive azoospermia (INOA) in a south-east Turkey population. Materials and Methods: The genotype and allele frequencies of two observed polymorphisms of XRCC1 Arg194Trp and Arg399Gln were examined by polymerase chain reaction-restriction fragment length polymorphism in 102 infertile men with INOA and 102 fertile controls. Result: In our study, all the observed genotype frequencies were in agreement with Hardy-Weinberg equilibrium. The genotype frequencies of the XRCC Arg194Trp were 84% (CC), 16% (CT) and 2% (TT) among the men with INOA, while the frequencies of those genotypes in the controls were found to be 88% (CC), 12% (CT) and 2% (TT) (P < .05). Similarly, the genotypes frequencies of GG, GA, and AA of the XRCC1 Arg399Gln were 44%, 39%, and 19% in the group of men with INOA, whereas these frequencies were 42%, 45%, and 15% in the control group, respectively. No significant difference between the control group and the men with INOA were found in the frequencies of genotypes and allele of XRCC1 Arg194Trp and Arg399Gln (P > 0.05). Conclusion: Neither Arg194Trp nor Arg399Gln polymorphisms in the XRCC I gene influenced risk of INOA in our study. However, these findings may be helpful in improving the understanding of the etiology of male infertility.
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    PRENATAL DIAGNOSTIC RESULTS OF 241 CASES WITH HIGH RISK IN SCREENING TESTS
    (John Wiley & Sons Inc, 2009) Simsek, Selda; Turkyilmaz, Aysegul; Akbas, Halit; Tekes, Selahattin; Balkan, Mahmut; Budak, Turgay
    [Abstract Not Available]