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Effect Of Metylenetetrahydrofolate Reductase 677 C-T, 1298 A-C, and 1317 T-C on Factor V 1691 Mutation in Turkish Deep Vein Thrombosis Patients

Possible effect of three common mutations in (MTHFR 677 C-T; 1317 T-C; 1298 C-A) and FV 1691 G-A mutation was studied in Turkish patients with thrombosis and compared with normal controls. The case-control study included 68 patients with the diagnosis of deep vein thrombosis and 66 controls, consecutively selected among subjects without personal and familial history of atherothrombosis. Patients with deep vein thrombosis were selected if Doppler ultrasonography was positive. Only, the comparison of factor V 1691 G-A mutation revealed statistically significant difference in control (6.06%) and deep vein thrombosis (23.5%) group. Risk assessment of double prothrombotic gene alterations revealed only FV 1691 G-A mutation as an independent risk factor for thrombosis (odds ratio 4.7 [1.5-15.0]), but our data suggested that MTHFR 677 has effect on its own (odds ratio 1.97 [0.6-2.7]) but may have synergy with FV 1691 G-A (odds ratio 8.12 [2.0-25.3]). However, MTHFR 1298 A-C and 1317 T-C does not have any effect; furthermore, being heterozygote at two different loci or homozygosity at least in a locus for 677 and 1298 revealed a significant increase (odds ratio 9 and 24 [1.3-59.3 and 2.3-240.3]) between these two groups.

Deletion polymorphism at the angiotensin-converting enzyme gene in Turkish patients with coronary artery disease

Coronary artery disease (CAD) is a multifactorial disease in which genetic and environmental factors play an important role. These factors differ in each population. This study was carried out to determine whether there is an association between insertion/deletion (I/D) polymorphism and CAD in Turkish patients from Ankara. An I/D polymorphism in intron 16 of the gene coding for the angiotensin-converting enzyme (ACE) has been used to study the role of this gene in the aetiology of coronary atherosclerosis and hypertension. As there are no existing data for the Turkish population, we studied the I/D polymorphism of the ACE gene in 218 patients with CAD and 107 controls. Polymerase chain reaction (PCR) was used for genotyping the I and D alleles. The DD polymorphism of the ACE gene was significantly different between CAD subjects (0.733) and controls (0.612) (p=0.002). The observed heterozygosity was 29.3% and 43.9% and D allele frequency was 0.733 and 0.612, respectively. There was a significantly higher D allele (p=0.03) in 111 patients with myocardial infarction (MI) compared with controls. Furthermore, MI localization also gave a significance of p=0.002 for inferior MI but not for anterior MI (p=0.83). Forty-three hypertension patients had a D allele frequency of 0.767 which was significantly different from control (p=0.01). These data provide further evidence for the association of D allele and CAD in a Turkish population.

Possible effects of antioxidant status on increased platelet aggregation in childhood iron-deficiency anemia

Background : Alterations in platelet function and antioxidant status in children with iron‐deficiency anemia (IDA) have been reported previously. The present study was performed to better understand possible interactions between these two systems.

Granulocyte Transfusions in Children With Chronic Granulomatous Disease and Invasive Aspergillosis

Abstract:  The transfusion of granulocytes to restore host defenses in severely granulocytopenic patients or in patients with defective granulocyte functions has been studied for more than 60 years. However, inadequate dosage of cells and inconsistent efficacy has limited the usage of these transfusions. Recently, the use of mobilizing agents such as granulocyte colony stimulating factors and dexamethasone has renewed interest in these treatment modalities. The present study is conducted to determine an appropriate method of enriched granulocyte collection with Fresenius AS.TEC.204 cell separator (Fresenius, Bad Homburg, Germany) and to evaluate the preliminary clinical results of granulocyte transfusion therapy in patients with chronic granulomatous disease and invasive Aspergillosis in parallel with in vitro granulocyte function. Three patients who have been treated for chronic granulomatous disease and invasive Aspergillosis received a total of 20 granulocyte transfusions. To mobilize granulocytes, healthy donors were given 450 µg of granulocyte colony‐stimulating factor (G‐CSF) subcutaneously and 8 mg of dexamethasone orally approximately 12 h before collection. Five µg/kg/day of G‐CSF was also subcutaneously administered prior to granulocyte transfusions. The first patient received 4; the second, 14 and the third, 2 transfusions. The granulocyte count given to these patients ranged between 0.4 and 3.0 × 109/kg. Most transfusions were well tolerated. The nitroblue tetrazolium (NBT) tests that were done 16–24 h after the transfusion showed 14–46% dye reduction. Two of the three patients survived the infection. Granulocyte transfusions from G‐CSF and dexamethasone stimulated donors could be a choice of treatment in chronic granulomatous disease patients, especially with disseminated invasive Aspergillosis.

Endothelial nitric oxide synthase intron 4, 27 bp repeat polymorphism in Turkish patients with deep vein thrombosis and cerebrovascular accidents.

of the Turkish population. Ninety-five apparently healthy unrelated individuals without any familial

Serum Interleukin-2 and Interleukin-6 Levels in IRON Deficiency Anemia

The aim of this study was to investigate the serum levels of interleukin-2 (IL-2) and interleukin-6 (IL-6) in children with iron deficiency anemia before and after iron supplementation. Twenty-five children with iron deficiency anemia 6 months to 3 years of age were included in the study. Ten age- and sex-matched healthy children constituted the control group. In the iron-deficiency group the production of IL-2 was found to be significantly lower than that in controls and became normal after iron supplementation (P < .001). But there was no difference in serum levels of IL-6 in iron deficiency anemia before and after iron supplementation (P > .05).

Serum levels and differential expression of CD44 in childhood leukemia and malignant lymphoma: Correlation with prognostic criteria and survival

Abstract Background : The CD44, a cell surface proteoglycan, participates in a variety of function including tumor dissemination and metastasis. However, there are no available data on the prognostic significance of CD44 expression of tumor tissue correlated with serum sCD44 level in childhood leukemias and lymphomas.

Zinc and anergy in pediatric Hodgkin's disease in Turkey

Blood (serum, erythrocytes) and hair zinc levels were determined in 60 biopsy‐proven pediatric Hodgkins disease cases at diagnosis. Cellular immunity also was assessed through total lymphocyte counts, Erosette formation, lymphoproliferative response (LP), and delayed cutaneous hypersensitivity tests to dinitrochlorobenzene, streptokinase‐streptodornase, purified protein derivative and phytohemagglutinin (PHA) in some of these patients. Interestingly, anergic patients unresponsive to four antigens showed significantly more depressed serum zinc levels as well as decreased lymphoproliferative response to mitogen (PHA). A positive correlation could be shown between serum zinc level, cutaneous anergy and LP. A possible contributing role of zinc deficiency in defective cell mediated immunity in Hodgkins disease was proposed, and administration of oral zinc, as a natural immunostimulant is considered in this lymphoma. Cancer 59:305–309, 1987.

RIGHT ATRIAL CATHETER-RELATED COMPLICATIONS IN PEDIATRIC ONCOLOGY PATIENTS: The Situation in a Developing Country

The complications of right atrial catheters (RACs) in pediatric oncology patients are unknown for centers in developing countries. This study examined the complications of RACs at Ankara University Medical School, Turkey. A total of 90 RACs were placed in 61 children for long-term chemotherapy with a total experience of 15,536 catheter days. The rate of catheter-related sepsis was 4.9 episodes per 1000 catheter days. Coagulase-negative staphylococci and Candida species were the most common organisms, accounting for 25.0 and 13.1% of all organisms, respectively. The most common reasons for the removal of the RACs were infection (42.4%) and dislodgement (32.2%). The rates of complications were significantly higher in this study than in western studies. This increase could be explained by the differences in catheter care practices in the Turkish center. In conclusion, the use of RACs in a developing country necessitates an appraisal of the benefits and risks for each patient and improvement of catheter care procedures.

Thromboembolism in beta-thalassemia major.

Accessible online at: http://BioMedNet.com/karger We read the article by Borgna Pignatti et al. [1] with great interest. They stated that the overall prevalence of thromboembolic episodes in Italian ß-thalassemia patients was 2.3% and 9.6% in thalassemia intermedia patients. The main localization was the central nervous system (CNS) [1]. The Turkish Thalassemia Study Group compiled data from 11 centers in Turkey. Of the 519 homozygous ß-thalassemia patients (77 had thalassemia intermedia). Seventeen (3.27%) had experienced thrombosis. Nine of them had the CNS as the main localization, the rest were reported to be thrombosisrelated to splenectomy [2]. Further, Borgna Pignati et al. discussed the possible mechanisms for the occurrence of thrombosis in ßthalassemia major patients [1] but excluded the genetic susceptibility, which may be another possible mechanism. A mutation in the factor V gene 1691 G→A was identified as the molecular explanation for the phenotype of APC resistance, which is associated with a significant increase in the thrombotic risk. We previously reported a ß-thalassemia major patient (IVS-I nt 110 G-A homozygote) with left intrahepatic thrombosis following splenectomy, which was resolved with heparin and warfarin [3, 4]. Recently we analyzed her DNA for the presence of FV 1691 G-A according to a previously described technique [5]. She had inherited FV Arg 506 Gln in the homozygous state. Underlying FV Arg 506 Gln mutation is a possible factor for neurologic complications in patients with ßthalassemia major. OOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOO