PubMed Health⌕ Search

Biomedical subjects

E Tuncbilek

Publications and source records attributed to E Tuncbilek.

At least 19 recordsLinked to original sources
PubMed2005

Thermolabile methylenetetrahydrofolate reductase enzyme genotype is frequent in type 2 diabetic patients with normal fasting homocysteine levels.

OBJECTIVE: To investigate the plasma homocysteine concentrations with regard to nutritional, metabolic and genetic factors and to find out the frequency and impact of thermolabile methylenetetrahydrofolate reductase (T-MTHFR) polymorphism in patients with type 2 diabetes mellitus. DESIGN: A cross-sectional study. SUBJECTS: A total of 94 subjects with type 2 diabetes mellitus and 91 healthy age- and sex-matched nonsmoking volunteers were recruited. MAIN OUTCOME MEASURES: Age, sex, duration and complications of diabetes mellitus, metabolic variables, fasting plasma homocysteine levels, and presence of T-MTHFR polymorphism were evaluated for all participants. Presence of T-MTHFR polymorphism was analysed to define any possible role in diabetes progress, complications and metabolic milieu. RESULTS: Fasting homocysteine levels were similar in diabetic patients and controls. Prevalence of homozygous polymorphism of thermolabile MTHFR gene (TT) was encountered more frequently in patients with diabetes mellitus than the healthy controls (P = 0.004). Subgrouping of the patients with respect to MTHFR genotype revealed similar metabolic variables and frequency of chronic complications of diabetes mellitus in groups. Patients with TT genotype revealed longer diabetes duration when compared with the patients having heterozygous mutation of thermolabile MTHFR or normal homozygous MTHFR genotypes (P = 0.046). CONCLUSIONS: Type 2 diabetic patients have similar fasting plasma homocysteine levels with that of age- and sex-matched healthy people. There is no correlation between diabetic complications and this amino acid metabolite. On the contrary, thermolabile variant of MTHFR genotype is found to be more frequent in diabetic patients especially in those who have experienced a longer duration of disease.

Adult↗
PubMed2002

Tumour necrosis factor alpha G-->A -238 and G-->A -308 polymorphisms in juvenile idiopathic arthritis.

OBJECTIVES: To study G-->A -238 and G-->A -308 polymorphisms in the promoter region of the tumour necrosis factor (TNF) alpha gene in patients with juvenile idiopathic arthritis (JIA). We analysed whether there were any associations between these polymorphisms and the type of JIA and/or the clinical course of the disease in two populations. METHODS: The first group consisted of 51 Turkish JIA patients and the second consisted of 159 JIA patients from the Czech Republic. Healthy individuals (93 and 100) from each country served as controls. Subgroups of JIA were defined according to the Durban criteria. The course of the disease was defined on the basis of the physician's global evaluation of disease activity, the swollen and tender joint count and the erythrocyte sedimentation rate. RESULTS: In both JIA cohorts, the distribution of genotypes was not significantly different among the types of JIA. The G-->A -238 polymorphism did not have an effect on the patients' outcome in either group. The G-->A -308 polymorphism was significantly associated with a poor outcome in the Turkish group (P=0.005) but there was no association in the Czech patients. Some features of JIA in Turkish patients differed from those in Czech patients. CONCLUSIONS: Genetic differences may accompany the phenotypic differences found in the Turkish group. Although larger numbers of patients are clearly needed to verify this, we suggest that the G-->A -308 polymorphism may be operative in defining disease outcome in selected groups.

Adolescent↗
PubMed2001

Tetrasomy 8 as a primary chromosomal abnormality in a child with acute megakaryoblastic leukemia. a case report and review of the literature.

Tetrasomy 8 is a relatively rare chromosomal abnormality in hematological disorders, and is mostly associated with myeloid malignancies and poor prognosis. In a number of cases, tetrasomy 8 has been reported as an accompanying anomaly with other chromosomal changes. In this report, we describe a 14-year-old girl with acute megakaryoblastic leukemia associated with tetrasomy 8 (primary) and trisomy 6, 19 and 20. She died 6 months after diagnosis, suggesting a relatively poor prognosis for AML with tetrasomy 8. To the best of our knowledge, this is the first report of a tetrasomy 8 abnormality associated with subtype FAB M7. Interestingly, this abnormality has not been previously reported in childhood AML patients.

Adolescent↗
PubMed2001

Glutathione S-transferase M1 gene polymorphism in bladder cancer patients. a marker for invasive bladder cancer?

The glutathione S-transferase M1 (GSTM1) gene is polymorphic in humans, and the deficiency in enzyme activity of GSTM1 is caused by the inherited homozygous absence of the GSTM1 gene, or the "null" genotype (GSTM1, 0/0). The increased risk of bladder cancer has been shown to correspond with this gene defect. No reports, however, have been found in the literature regarding GSTM1 gene deficiency with superficial and invasive bladder cancer. In this study, we examined the association of the GSTM1-null genotype with superficial and invasive bladder cancer. Using a polymerase chain reaction (PCR)-based method, we examined the frequency of the GSTM1 gene defect in Turkish patients with superficial bladder cancer (N = 61), invasive bladder cancer (N = 42), and control subjects (N = 202) who had no history of cancer. The GSTM1 null genotype was observed in 34.7% of the control subjects and in 54.3% of total bladder cancer patients (OR: 2.246; 95% CI: 1.384-3.645, P: 0.00094). In other words, the presence of the GSTM1-null genotype significantly increased the risk of bladder cancer development. Among invasive bladder cancers, the frequency of the GSTM1-null genotype was 64.3% (OR: 0.294, 95% CI: 0.147-0.590, P: 0.0003). This was also significantly higher than control subjects, indicating that patients carrying this genotype were at increased risk for developing invasive bladder cancer. This relationship was not statistically significant in the superficial bladder cancer group (OR: 0.585, 95% CI: 0.327-1.045, P: 0.06). Our results indicate that GSTM1 gene polymorphism should be considered as an important risk modifier in the development of bladder cancer and might be used as a predictive marker for invasive bladder cancer.

Biomarkers, Tumor↗
PubMed2001

Chromosomal mosaicism in a pregnant woman treated with acyclovir for herpes simplex encephalitis.

At 17th week of pregnancy, a 28-year-old woman was diagnosed as having herpes simplex encephalitis and treated with intravenous acyclovir. Follow-up by the serial ultrasound examinations, intrauterine growth retardation (IUGR) was found. During the course of disease, cordocentesis was performed to evaluate the risk of the disease and the infant's chromosomal constitution. No herpes simplex virus infection on cord blood sample was observed; however, chromosomal analysis revealed: 46,XX/47,XX,+2/47,XX,+11/47,XX,+19/48,XX,+11. After termination of pregnancy, the fetus was found as having ventricular septum defect. The presence of the triploid cell lines mocaicism involving chromosome 2 and 19 were confirmed by the analysis of fetal skin tissues. No attributable finding to herpes simplex virus infection and acyclovir treatment was found, and the presence of the triploid cell lines mocaicism were appeared to be purely coincidental.

Acyclovir↗
PubMed2000

Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome.

Bloom syndrome is a genomic instability syndrome associated with predisposition to development of various types of malignancy. In this report, we described a 7-year-old boy with Bloom syndrome (BS) and myelodysplastic syndrome (MDS) associated with monosomy 7 and loss of the Y chromosome. To our knowledge, this was the first case with BS showing monosomy 7 and MDS during the early childhood period.

Anemia, Refractory, with Excess of Blasts↗
PubMed1999

Loss of maternal allele in a child with myelodysplastic syndrome and monosomy 7.

Monosomy 7 or partial deletion of the long arm of chromosome 7 is frequently described in children with myelodysplastic syndrome and acute myeloblastic leukemia. Parental origin of chromosome 7 in children with sporadic monosomy 7 has been examined very rarely. To investigate if monosomy 7 shows parent-of-origin, we have studied a female child with monosomy 7 and de novo myelodysplastic syndrome by a series of polymorphic polymerase chain reaction markers. We found loss of maternal allele and discussed the results with the previous reports.

Alleles↗
PubMed1999

Implications of certain genetic polymorphisms in scarring in vesicoureteric reflux: importance of ACE polymorphism.

Polymorphisms of the renin-angiotensin system (RAS) have been shown to affect renal prognosis in a number of diseases. We examined the influence of deletion (D) and insertion (I) polymorphism in the angiotensin I-converting enzyme (ACE) gene and the other polymorphic markers of RAS, and that of plasminogen-activator inhibitor-1 (PAI-1) on renal scarring in reflux nephropathy. Ninety-four children with third- or fourth-degree reflux were the subject of the study. They were stratified into two groups according to the technetium-99m-dimercaptosuccinic acid (DMSA) findings: the first group consisted of 41 patients with no scar formation. In the second group (n = 53), there was significant scar formation in the refluxing units. ACE levels, ACE gene, angiotensin-1 receptor (AT1) A1166C, angiotensinogen (ATG) M235T, and PAI-1 4G/5G polymorphisms were studied. In the second group with scarred kidneys, 18 patients had decreased renal function. The frequency of patients homozygous for the D allele was significantly greater in the second group with scar formation in the refluxing units compared with the first group of patients (P < 0.005). On multivariate analysis, the DD genotype was the only factor that had a significant impact on renal scar formation, introducing a 4.9-fold risk (P < 0.05, 95% confidence interval). We were unable to find any correlation with the presence ofDD genotype and hypertension, decreased renal function, proteinuria, or sex of the patient. DDgenotype correlated with the serum ACE levels (P < 0.005). AT1and ATGpolymorphisms and PAI-1 polymorphism did not correlate with scar formation or any of the parameters. This study provides evidence that the DDgenotype of ACE may be a genetic susceptibility factor contributing to adverse renal prognosis in reflux nephropathy; namely, scar formation. The role of the synergism between the aforementioned genetic polymorphisms can be enlightened with larger patient groups, possibly through multicenter studies.

Angiotensinogen↗
PubMed1999

Effects of angiotensin-converting enzyme gene polymorphism on the left-ventricular function and mass in patients with acromegaly.

In this study we have investigated the contribution of the ACE genotype to the development of left-ventricular hypertrophy (LVH) and systolic and diastolic dysfunctions in acromegalic patients. The study group consisted of 30 acromegalic patients (21 women and 9 men, age: 37.9 +/- 10.8 years, disease duration: 9.0 +/- 6.9 years). The distribution of the DD, ID and II genotypes was 40.0 (n = 12), 46.6 (n = 14) and 13.3% (n = 4), respectively, being similar to frequencies observed in a healthy population. Plasma ACE levels were 55.0 +/- 12.0 (45-84), 28.7 +/- 15.7 (8-58) and 24.5 +/- 12.0 (16-33) U/I in patients with the DD, ID and II genotype, respectively. The mean serum ACE activity in the DD genotype was significantly higher than in the heterozygous group (p < 0.0001). Serum ACE activity showed a significant negative association with the mean growth hormone level (r = -0.52, p = 0.007). The LV early diastolic flow velocity/LV presystolic flow velocity (E/A) ratios were 1.2 +/- 0.4 for the DD genotype, 1.3 +/- 0.3 for the ID genotype and 0.7 +/- 0.1 for the II genotype. The E/A ratio was considerably lower in acromegalic patients with the II genotype compared to the other genotypes (p = 0.03). The LV mass index (LVMI) values were 131.5 +/- 4.2 g/m2 for the DD genotype, 141.7 +/- 50.3 g/m2 for the ID genotype and 159.6 +/- 48.2 g/m2 for the II genotype. However, there was no significant difference in LVMI among allelic groups. All other indices of systolic and diastolic function were not statistically different in the acromegalic patients. The present data fail to support a role of ACE gene polymorphism in determining LVH in acromegalic patients. However, the I allele may prove as a useful marker predicting the development of diastolic dysfunction in acromegalic patients.

Acromegaly↗
PubMed1992

A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.

A 2-year-old boy with typical features of the acrocallosal syndrome is presented. His parents are first degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral post-axial polydactyly of the hands. The possibility of including anencephaly in the spectrum of the CNS malformations of the acrocallosal syndrome is suggested.

Abnormalities, Multiple↗
PubMed1987

[Consanguineous marriage in Turkey and its effects on infant mortality].

The authors examine the effects of consanguineous marriage on infant mortality in Turkey. An attempt is made to distinguish the influence of consanguineous marriage from that of selected regional and socioeconomic factors. It is found that "the differences of the average infant mortality rates between consanguineous and non-consanguineous marriages are parallel to the development differences between the regions as well as the conditions of the house which are thought to signify the socioeconomic differences. Although the differences in averages are insignificant statistically, this trend [indicates] that consanguineous marriages [affect] infant mortality." Data are from the 1983 Turkish Fertility, Contraceptive Prevalence and Family Health Status Survey. (SUMMARY IN ENG)

Asia↗
PubMed1985

Carpal-tarsal osteolysis.

Two cases of carpal-tarsal osteolysis are described. It is believed that clinical and radiological findings of the patients are compatible with the dominant type of the disease. Although case 2 does not have the indications of nephropathy, it is rather too early to decide whether he has it or not, because of his age.

Bone Resorption↗