Etem Akbaş

Relationship between polymorphism in the manganese superoxide dismutase gene and breast cancer.

Manganese superoxide dismutase (MnSOD) acts as an antioxidant and protects cells from the harmful effects of reactive oxygen species. We investigated the relationship between the MnSOD Ala-9Val polymorphism and breast cancer. Genotypes of 250 cases and 330 controls were determined by use of PCR-RFLP. Compared with the MnSOD Val/Val genotype, the MnSOD Val/Ala or MnSOD Ala/Ala genotype was not significantly associated with the overall risk for breast cancer. The risk increased in women with MnSOD Ala allele-containing genotypes as well as higher level of education (Ala/Ala: OR, 6.00; 95% CI, 1.02-35.33), BMI >or= 25 kg/m(2) (Val/Ala: OR, 1.74; 95% CI, 1.10-2.76), late age at first pregnancy (Val/Ala: OR, 1.52; 95% CI, 1.01-2.42), and premenopausal status (Val/Ala: OR, 1.78; 95% CI, 1.03-3.10). In conclusion, the MnSOD Ala-9Val polymorphism may contribute to an increased risk for breast cancer development, particularly in the presence of a higher level of education, high BMI, late age at first pregnancy, and premenopausal status.

The Influence of HER2 Genotypes as Molecular Markers on Breast Cancer Outcome

Alterations of the human epidermal growth factor receptor 2 (HER2) protooncogene have been implicated in the carcinogenesis and prognosis of breast cancer. A polymorphism has been identified at codon 655 (ATC/isoleucine to GTC/valine [I655V]) in the transmembrane domain-coding region of this gene, which may be associated with the risk of breast cancer. In this study we aimed to determine whether the risk of breast cancer is associated with the I655V polymorphism of HER2 transmembrane domain-coding region at codon 655. The genomic DNA from breast cancer patients and control subjects underwent analysis by the polymerase chain reaction-fragment length polymorphism. We observed no overall association between HER2 genotype and breast cancer (p = 0.53). However, an elevated positive association was observed for Ile/Val+Val/Val versus Ile/Ile genotypes in women >age 60 years (p = 0.02). Further, other risk factors--namely, the body mass index and family history--were found to be risk factors for developing breast cancer (p = 0.006 and p = 0.00, respectively). In conclusion, results of this study suggest that polymorphisms of the HER2 gene may be important susceptibility biomarkers for breast cancer risk among older women.

Effects of X-rays and cigarette smoking on leukocyte, lymphocyte and mitotic index values and SCE rates: the relationship between mitotic index and lymphocyte count

Many previous studies revealed that smoking increases leukocyte and lymphocyte counts while exposure to X-rays decreases these counts. However the relationships between lymphocyte life span and smoking as well as X-rays were not well documented. The primary aim of this study was to determine relationships between smoking X-rays (in combination and individually) and life span of lymphocytes. Blood samples from 200 healthy individuals, half of which were X-ray exposed individuals, were collected. Half of X-ray exposed and of non-X-ray exposed individuals were smokers. There were equal numbers of male and female participants. Two lymphocyte cultures, one for the sister chromatid exchange (SCE) analysis and the other for the determination of mitotic index values were prepared using one part of the blood samples collected from the individuals. From the other part of the blood sample leukocyte and lymphocyte counts were determined with a haemogram device. Evaluation of the findings suggested that leukocyte count, lymphocyte count, mitotic index were relatively lower for the X-ray exposed individuals. In addition these values were higher for smokers than nonsmokers in general. The highest SCE rates were recorded for smoking radiology technicians. The most important finding is that lymphocyte life span is relatively low in smokers and in X-ray exposed males.

An investigation of effects of toluene and cigarette smoking on some blood parameters and lymphocyte life span.

As toluene is an organic solvent, its cytotoxic effect on the cell is known. Similarly, it has been demonstrated that many of the chemical agents that enter the body through smoking have cytotoxic and genotoxic effects on the cells. In this study, the effects of these two toxic agents, both separately and in combination, on leukocyte counts, lymphocyte counts and mitotic index values were investigated. The study was carried out on blood samples of 100 males, divided into four groups: 25 non-smokers and 25 smokers, 25 toluene-exposed non-smokers and 25 no toluene-exposed smokers. The blood cell values of the blood samples were determined automatically on the hemogram apparatus. In addition slides of the blood samples were prepared according to the chromosome analysis procedure and the mitotic index values were determined through microscopy. The possible effects of smoking and toluene on lymphocyte life span was considered by correlating mitotic index values with lymphocyte counts in the same way for each of the subgroups. Results revealed that leukocyte counts and mitotic index values were higher in the smokers than the non-smokers whether or not they had been exposed to toluene. In addition the results indicate that lymphocyte life span may be shortened due to cigarette smoking and toluene exposure.

Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases

Turner Syndrome occurs in one out of every 5000 live female births and the diagnosis is usually based on the clinical presentation. In the last 9 years, 17 of 1681 patients who underwent cytogenetic evaluation to investigate uncertain chromosomal anomaly had Turner syndrome. Ten of the patients were the 45,X (classic) type, 2 patients were 46,X,i(Xq), 1 patient was 46,X,der(X)del(X)(p22.1) del(X)(q26), and 4 were mosaic (2 were 45,X/46,XY and the other 2 were 45,X/47,XXX). Detailed clinical evaluations of these patients are presented.

Association of Pericentric Inversion of Chromosome 9 (inv[9][p11q13]) and Genetic Diseases: Case Report

Pericentric inversion in heterochromatic region of chromosome 9 (inv[9]) is a common (1–3%) heteromorphism in the general population. It has probably evolved through breakage and reunion and is retained through mendelian inheritance without any apparent phenotypic consequences. Despite being categorized as a minor chromosomal rearrangement, which does not correlate with abnormal phenotypes, many reports in the literature raised conflicting views regarding the association with subfertility and recurrent abortions, abnormal clinical conditions, as well as chromosomal abnormalities due to the possession of this inversion. In our study, the significance of the inv(9) and the genetic counseling process was discussed in view of the literature. The possible significance of this inversion is interviewed. Submitted 8.9.09 | Revision Received 9.14.09 | Accepted 9.21.09

Investigation of relationship between -1195 A>G polymorphism of COX-2 gene and mRNA levels of COX-2 gene in peripheral blood monocyte in colorectal cancer patients

T new WHO classification of lung cancers has been published recently. Several concepts and guidelines have been incorporated into this new edition based on molecular characterizations of lung tumors and targeted therapies. Many improvements have already been made in the past decade due to the discovery of EGFR mutation and the innovation of new diagnostic techniques. The new WHO classification has a critical impact on the cytological practice. The cytological specimens commonly used in clinical diagnosis include: Sputum, bronchial brushing and washing, bronchoalveolar lavage, transbronchial fine needle aspiration (TBNA), endobronchial ultrasound guided transbronchial fine needle aspiration (EBUS-TBNA) and transthoracic CT or ultrasound guided fine needle aspiration. Familiarity with the new classification of lung cancers, cytomorphological features of respiratory specimens and techniques of obtaining these samples are critical in order to make an accurate diagnosis. In addition, ancillary studies including immunohistochemical studies and molecular tests also play important roles in lung cancer classification. In this presentation, we will discuss the current concept of lung cancers and the utility of ancillary tests including immunohistochemistry and molecular test in the classification of lung cancers.T epithelium of the trachea of specific pathogen free rats is characterized by the presence of numerous serous cells with secretory granules containing calcitonin gene related peptide, instead of goblet cells with mucin granules. Few studies investigate the secretory activity of serous cells. The present study investigated whether a high dose of histamine administered intravenously, an important mediator of mast cells in pathogenesis of asthma, could increase serous cell secretion that was associated with tracheal mucosal inflammation and edema formation and whether pretreatment with mepyramine, a H1 receptor inhibitor, could inhibit serous cell secretion. Transmission and scanning electron microscopy showed that histamine application resulted in an increase in the number of actively secreting serous cells as evidenced by exocytotic figures and plasma membrane invaginations. Mepyramine, but not atropine, significantly inhibited the histamine induced acute inflammation and serous cell degranulation. The present study concluded that histamine induced plasma leakage, mucosal edema and serous cell exocytosis mediated through H1 receptors in the trachea of specific pathogen free rats.T occurrence of hepatocellular carcinoma is rising especially in areas with high incidence of viral hepatitis. Fine needle aspiration is a safe, cost effective and accurate method for diagnosis of liver space occupying lesions. In this study we report our experience in cytology of HCC. 58 patients (20 female and 38 male), histologically documented cases of hepatocellular carcinoma were studied retrospectively. 25 patients were cirrhotic. The frequency of viral hepatitis was 40% (30% HBV and 10% HCV). The smears were hyper-cellular consisting of two and three-dimensional clusters of round cells with centrally located nuclei in 58, 100% of cases. Atypical bare nuclei were frequently noted (49, 84% patients). Prominent nucleoli (25, 43% patients), endothelial cell rapping clusters of hepatocytes (40, 68% cases), transgressing vessels (38, 65% patients) intra-cytoplasmic bile (42, 72% patients), intranuclear pseudo inclusions (22, 37% patients) and hepatitic rosettes enclosing extracellular bile plugs (20, 34% cases) were observed. Tumor giant cells (31, 53% cases), tad pole-like cells (5, 8% cases) and Reed-Stenberg-like cells (1, 1.7% patient) were also seen. Some smears showed clusters of hepatocytes with clear cytoplasm and some of them showed micro-vesicular fatty change in 12, 20% patients. In conclusion, using different cytologic criteria, hepatocellular may reliably be differentiated from its mimickers. Besides other previously defined cytological features, Reed-Stenberg-like cells can be seen in hepatocellular carcinoma.Background: Osteomyelitis is an inflammation of the bone, bone marrow, endosteum, periosteum and vascular channels. Chronic osteomyelitis can result from inadequate treatment of acute bone inflammation, which indicates the importance of rapid and accurate diagnosis to better therapeutic conduct of the osteomyelitis being treated. Appendicular osteosarcoma is the main primary malignant and nonhematopoietic osteogenic tumor in dogs. It appears spontaneously in the appendicular skeleton with a relevant incidence both in dogs and in human children. Unfortunately, it is an aggressive neoplasm with high rates of metastasis regardless of the species. The high rate of lethality is due to the terrible survival prognosis for patients with lung metastasis and due to chemotherapy refractoriness. For human patients, the chemotherapeutic treatment, based on a prior anatomopathological diagnosis, results in a better rate of survival as it reduces metastases. However, this approach is not often explored in veterinary medicine, which features amputation as the traditional approach, followed by chemotherapy. Objective: Verify the morphological expression of the parameters used in the cytopathological diagnosis through fine needle aspiration cytology of osteomyelitis and spontaneous osteosarcomas in dogs from varying breeds, including mixed-breeds. The study also aims to demonstrate that the fine-needle aspiration technique is able to carry out efficiently the diagnosis of osteomyelitis as well as canine osteosarcoma. Methods: This study verified, through optical microscopy, the morphological expression of parameters used in the cytopathological diagnosis of osteomyelitis and osteosarcomas in twenty dogs of different breeds, including mixed-breeds, and then conducted an analysis of possible concordances between these parameters. The cytological assay was conducted through fine needle aspiration cytology, using Giemsa and Papanicolaou stain on the microscope slides. The histopathological assay was conducted through the use of biopsies of surgical specimens, which were processed according to the standard procedures and stained with hematoxylin-eosin. The tumors were classified based on the guidelines proposed by the World Health Organization. Results: There was malignancy criteria significantly repeated both at cytopathological and at histopathological assays. Conclusion: These findings show us that the cytopathological assay through aspiration may be used as a trustworthy diagnostic method for osteomyelitis and osteosarcomas in dogs..

Investigation for polymorphisms of caspase 3 and caspase 9 gene and enzyme levels in leukemia patients

T new WHO classification of lung cancers has been published recently. Several concepts and guidelines have been incorporated into this new edition based on molecular characterizations of lung tumors and targeted therapies. Many improvements have already been made in the past decade due to the discovery of EGFR mutation and the innovation of new diagnostic techniques. The new WHO classification has a critical impact on the cytological practice. The cytological specimens commonly used in clinical diagnosis include: Sputum, bronchial brushing and washing, bronchoalveolar lavage, transbronchial fine needle aspiration (TBNA), endobronchial ultrasound guided transbronchial fine needle aspiration (EBUS-TBNA) and transthoracic CT or ultrasound guided fine needle aspiration. Familiarity with the new classification of lung cancers, cytomorphological features of respiratory specimens and techniques of obtaining these samples are critical in order to make an accurate diagnosis. In addition, ancillary studies including immunohistochemical studies and molecular tests also play important roles in lung cancer classification. In this presentation, we will discuss the current concept of lung cancers and the utility of ancillary tests including immunohistochemistry and molecular test in the classification of lung cancers.T epithelium of the trachea of specific pathogen free rats is characterized by the presence of numerous serous cells with secretory granules containing calcitonin gene related peptide, instead of goblet cells with mucin granules. Few studies investigate the secretory activity of serous cells. The present study investigated whether a high dose of histamine administered intravenously, an important mediator of mast cells in pathogenesis of asthma, could increase serous cell secretion that was associated with tracheal mucosal inflammation and edema formation and whether pretreatment with mepyramine, a H1 receptor inhibitor, could inhibit serous cell secretion. Transmission and scanning electron microscopy showed that histamine application resulted in an increase in the number of actively secreting serous cells as evidenced by exocytotic figures and plasma membrane invaginations. Mepyramine, but not atropine, significantly inhibited the histamine induced acute inflammation and serous cell degranulation. The present study concluded that histamine induced plasma leakage, mucosal edema and serous cell exocytosis mediated through H1 receptors in the trachea of specific pathogen free rats.T occurrence of hepatocellular carcinoma is rising especially in areas with high incidence of viral hepatitis. Fine needle aspiration is a safe, cost effective and accurate method for diagnosis of liver space occupying lesions. In this study we report our experience in cytology of HCC. 58 patients (20 female and 38 male), histologically documented cases of hepatocellular carcinoma were studied retrospectively. 25 patients were cirrhotic. The frequency of viral hepatitis was 40% (30% HBV and 10% HCV). The smears were hyper-cellular consisting of two and three-dimensional clusters of round cells with centrally located nuclei in 58, 100% of cases. Atypical bare nuclei were frequently noted (49, 84% patients). Prominent nucleoli (25, 43% patients), endothelial cell rapping clusters of hepatocytes (40, 68% cases), transgressing vessels (38, 65% patients) intra-cytoplasmic bile (42, 72% patients), intranuclear pseudo inclusions (22, 37% patients) and hepatitic rosettes enclosing extracellular bile plugs (20, 34% cases) were observed. Tumor giant cells (31, 53% cases), tad pole-like cells (5, 8% cases) and Reed-Stenberg-like cells (1, 1.7% patient) were also seen. Some smears showed clusters of hepatocytes with clear cytoplasm and some of them showed micro-vesicular fatty change in 12, 20% patients. In conclusion, using different cytologic criteria, hepatocellular may reliably be differentiated from its mimickers. Besides other previously defined cytological features, Reed-Stenberg-like cells can be seen in hepatocellular carcinoma.Background: Osteomyelitis is an inflammation of the bone, bone marrow, endosteum, periosteum and vascular channels. Chronic osteomyelitis can result from inadequate treatment of acute bone inflammation, which indicates the importance of rapid and accurate diagnosis to better therapeutic conduct of the osteomyelitis being treated. Appendicular osteosarcoma is the main primary malignant and nonhematopoietic osteogenic tumor in dogs. It appears spontaneously in the appendicular skeleton with a relevant incidence both in dogs and in human children. Unfortunately, it is an aggressive neoplasm with high rates of metastasis regardless of the species. The high rate of lethality is due to the terrible survival prognosis for patients with lung metastasis and due to chemotherapy refractoriness. For human patients, the chemotherapeutic treatment, based on a prior anatomopathological diagnosis, results in a better rate of survival as it reduces metastases. However, this approach is not often explored in veterinary medicine, which features amputation as the traditional approach, followed by chemotherapy. Objective: Verify the morphological expression of the parameters used in the cytopathological diagnosis through fine needle aspiration cytology of osteomyelitis and spontaneous osteosarcomas in dogs from varying breeds, including mixed-breeds. The study also aims to demonstrate that the fine-needle aspiration technique is able to carry out efficiently the diagnosis of osteomyelitis as well as canine osteosarcoma. Methods: This study verified, through optical microscopy, the morphological expression of parameters used in the cytopathological diagnosis of osteomyelitis and osteosarcomas in twenty dogs of different breeds, including mixed-breeds, and then conducted an analysis of possible concordances between these parameters. The cytological assay was conducted through fine needle aspiration cytology, using Giemsa and Papanicolaou stain on the microscope slides. The histopathological assay was conducted through the use of biopsies of surgical specimens, which were processed according to the standard procedures and stained with hematoxylin-eosin. The tumors were classified based on the guidelines proposed by the World Health Organization. Results: There was malignancy criteria significantly repeated both at cytopathological and at histopathological assays. Conclusion: These findings show us that the cytopathological assay through aspiration may be used as a trustworthy diagnostic method for osteomyelitis and osteosarcomas in dogs..

Adiponektin ve adiponektin reseptör 1 gen polimorfizmleri ile kolorektal kanser arasındaki ilişki

Objective: Adiponectin is a protein synthesized from adipose tissue and it is also an endogeneous insulin sensitizer. Adiponectin seems to act in preneoplastic colonic lesions to regulate cell growth by activating, altering, or interacting with several pathways including the leptin and the NFkB pathways. This study aims to investigate the relationship of T/G rs2241766ADIPOQ exon 2 (+45,codon 15) and A/G rs2275738ADIPOR1 intron 1 (-106) polymorphisms with CRC risk. Methods: The studying group consist of total 266 person which 129 of them are colorectal cancer cases who were diagnosed at the Mersin University Medical Faculty Hospital and 137 controls participating. Genotypes were determined using PCR/RFLP methods. Results: It was found that there is no relationship between T/G rs2241766ADIPOQ exon 2 (+45, codon 15) and A/G rs2275738ADIPOR1 intron 1 (-106) polymorphisms and the risk of developing colorectal cancer. It was determined an increasing risk of colorectal cancer with male subjects and old age groups. Conclusion: In conclusion, it was found that rs2241766 and rs2275738 polymorphisms may not be related to the progression of colorectal cancer. J Clin Exp Invest 2014; 5 (4): 572-576

45,X/46,X,i(Xq) ve 46,X,i(Xq) Karyotipi gösteren iki olgunun klinik ve sitogenetik yönden değerlendirilmesi

Correspondence: Etem Akbaş, Mersin University Medical Faculty Department of Medical Biology and Genetics, Mersin, Turkey Email: etem_a@yahoo.com Received: 15.07.2014, Accepted: 04.09.2014 Copyright