18 research outputs found

    A chronic myeloid leukemia-like syndrome case with del (12) (p12) in a Li-Fraumeni syndrome family

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    Li-Fraumeni syndrome is a familial cancer syndrome characterized by different tumors and hereditary p53 mutations. Here, a chronic myeloid leukemia-like syndrome case in a Li-Fraumeni syndrome family with del (12) (p12) cytogenetic abnormality was presented. A hereditary p53 mutation (pro309ser) supported the Li-Fraumeni syndrome diagnosis in this family. This syndrome was characterized by the clonal myeloproliferative accumulation in bone marrow and peripheral blood with negative bcr/abl gene rearrangement finding. The etiology of this rare syndrome is still unclear. This is the only chronic myeloid leukemia-like syndrome case reported in a Li-Fraumeni syndrome family. Del (12) (p12) was observed in leukemias except chronic myeloid leukemia-like syndrome. The deletion in chromosome 12pl2 with hereditary p53 mutation should have a critical role in chronic myeloid leukemia-like syndrome etiology in our case. © 2005 Blackwell Publishing Ltd

    Cancer Induces Cardiomyocyte Remodeling and Hypoinnervation in the Left Ventricle of the Mouse Heart

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    Cancer is often associated with cachexia, cardiovascular symptoms and autonomic dysregulation. We tested whether extracardiac cancer directly affects the innervation of left ventricular myocardium. Mice injected with Lewis lung carcinoma cells (tumor group, TG) or PBS (control group, CG) were analyzed after 21 days. Cardiac function (echocardiography), serum levels of TNF-α and Il-6 (ELISA), structural alterations of cardiomyocytes and their innervation (design-based stereology) and levels of innervation-related mRNA (quantitative RT-PCR) were analysed. The groups did not differ in various functional parameters. Serum levels of TNF-α and Il-6 were elevated in TG. The total length of axons in the left ventricle was reduced. The number of dense core vesicles per axon profile was reduced. Decreased myofibrillar volume, increased sarcoplasmic volume and increased volume of lipid droplets were indicative of metabolic alterations of TG cardiomyocytes. In the heart, the mRNA level of nerve growth factor was reduced whereas that of β1-adrenergic receptor was unchanged in TG. In the stellate ganglion of TG, mRNA levels of nerve growth factor and neuropeptide Y were decreased and that of tyrosine hydroxylase was increased. In summary, cancer induces a systemic pro-inflammatory state, a significant reduction in myocardial innervation and a catabolic phenotype of cardiomyocytes in the mouse. Reduced expression of nerve growth factor may account for the reduced myocardial innervation

    DNA repair gene XRCC1 and XRCC3 polymorphisms and their association with chronic myelogenous leukemia

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    Objective: In this study, due to its importance in DNA repair in cancer, we searched for polymorphisms of XRCC1 and XRCC3 genes in Turkish chronic myelogenous leukemia (CML) patients. Materials and Methods: In order to determine these gene polymorphisms, the polymerase chain reaction-restriction fragment length polymorphism method was applied using genomic DNA extracted from samples. Results: The genotype frequencies were observed as follows: The XRCC1 Arg399Gln genotype frequencies were observed as 33.3% homozygote typical (G/G), 43.3% heterozygote (G/A) and 23.3 % homozygote atypical (A/A) in the 30 samples of patients group; the genotype frequencies of XRCC3 Thr241Met were found 50% homozygote typical (C/C), 36.7% heterozygote (C/T) and 13.3% homozygote atypical (T/T) in all samples. Conclusion: In this study, no statistical association was found between CML and XRCC1 Arg399Gln and XRCC3 Thr241Met polymorphisms in Turkish patients. © AKAY; licensee AKAY

    In vitro effect of trimetazine on K-Cl cotransport and superoxide dismutase activity in Hemoglobin SS erythrocytes

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    Background and Purpose: Trimetazidine (TMZ) (1-2,3,4 trimethoxybenzyl piperazine dihydrochloride) is a cyto-productive agent which is used as an anti-anginal drug. Sickle Cell Anemia (SCA) is characterized by increased K-Cl cotransport (KCC) activity and self-generated free radicals. The aim of study was to investigate the effect of TMZ on KCC activity and free radicals in SCA patients. Material and Method: The blood samples were drawn by 20 patients with SCA. After the washing procedure the samples were encubated with TMZ for 20 min. Superoxide dismutase (SOD) and KCC activity were measured before and after incubation. Results and Conclusion: It was observed that treatment with TMZ for 20 min has a negative effect on SOD activity in linear relation with the doses used as 50, 100, 150, 200 mM, in vitro (respectively 2494.95±102.73, 2253±99.51, 1497.25±111.14 U/g Hb). However; TMZ had no effect on neither volume dependent nor chloride dependent KCC activity. In conclusion further in vivo studies with TMZ should be conducted

    A Case Report of Cutaneous Aspergillosis

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    Cellulitis of Carbapenem Resistant Pseudomonas Aeruginosa in Neutropenic Patient

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