Placental and Umbilical Cord Blood Oxidative Stress Level and Telomere Homeostasis in Early Onset Severe Preeclampsia.

OBJECTIVE: Although the etiopathogenesis of preeclampsia (PE) is unknown, evidence suggests that it may be associated with increased oxidative stress. Studies have shown that oxidative stress can affect DNA fragments called telomeres. However, the interactions of PE, oxidative stress, and telomere length are not clearly known. This study aims to evaluate the oxidative/anti-oxidative stress balance in the placenta and umbilical cord and examine the effect of oxidative stress on telomeres. MATERIALS-METHOD: Cord blood and placental samples were collected from 27 pregnant women with severe PE (280/7-336/7 gestational weeks) and 53 healthy pregnant women. Telomere length (TL) was measured by real-time PCR in the cord blood and placenta tissue. Total antioxidant status (TAS) and total oxidant status (TOS) levels were measured in the cord blood and placenta tissue using a colorimetric method. RESULTS: No significant differences were found between groups regarding age, BMI, gravida, parity, and newborn gender (p>0.05). Cord blood and placental TL of PE patients were significantly shorter than the control group, while cord blood and placental TAS and TOS levels were higher (p<0.05). The results of a multivariate logistic regression analysis showed that the level of placental TOS in PE patients (OR=1.212, 95% CI=1.068-1.375) was an independent risk factor affecting PE. CONCLUSION: This study found that oxidative stress is an independent risk factor in the development of PE and shortens TL in both placental and umbilical cord blood. Future research on telomere homeostasis may offer a new perspective for the treatment of PE.

Leukocyte telomere length and lipid parameters in patients with myocardial infarction with non-obstructive coronary arteries.

Myocardial infarction with non-obstructive coronary arteries (MINOCA) is defined as stenosis of less than 50% or no stenosis on coronary angiography in a patient diagnosed with myocardial infarction. Telomere length is expressed by studies that it acts as a biomarker, especially for biological aging and cardiovascular diseases. In this study, we aimed to investigate whether there is a relationship between circulating leukocyte telomere length (LTL) and serum lipid values in MINOCA patients. Forty-five newly diagnosed patients with MINOCA were included in the study, along with 45 healthy controls who matched the patients in terms of age and gender. We determined the LTL value using the RT-PCR method. As a result of the study, we found LTL (p< 0.001) and serum lipid values (HDL-cholesterol (p< 0.001), LDL-cholesterol (p< 0.001), triglycerides (p< 0.05), and total cholesterol (p< 0.05)) to be significantly higher in the MINOCA group than in the control group. When the correlation relationship between LTL and lipid values in the MINOCA group was evaluated, a negative correlation was determined only between LTL and HDL (p=0.014, r=-0.362). This is the first study to evaluate telomere length in MINOCA patients in Turkey. Our results support the existence of short telomere length in MINOCA patients.

Increased serum myonectin and irisin levels with myonectin and FNDC5 expressions in polycystic ovary syndrome: a case control study.

The aim of this study is to assess the FNDC5 and myonectin expressions and serum levels of myonectin and irisin in women with PCOS. 90 participants were included in this case-control study. 45 of these participants were with PCOS, and 45 of them were healthy volunteers matched for age and body mass index (BMI). Serum irisin and myonectin levels were measured with commercially available enzyme-linked immune sorbent assay (ELISA) kits. Expression of the myonectin and FNDC5 genes were determined by RT-PCR analysis. It was found out that FSI, HOMA-IR, LH, LH/FSH, TT, serum irisin and serum myonectin levels, myonectin mRNA expression, and FNDC5 mRNA expression were higher in the PCOS group, whereas HDL-C level was lower in the PCOS group (p < .05). When the groups were compared, it was detected that IR and HA were significantly higher in the PCOS group (p < .05). Serum irisin and myonectin levels, and myonectin and FNDC5 mRNA expressions were increased in women with PCOS. These molecules can be target molecules in PCOS pathophysiology and treatment.IMPACT STATEMENTWhat is already known on this subject? Although the aetiology of PCOS is not fully understood, it is thought that insulin resistance may play a critical role. In recent studies, the relationship of cytokines secreted from skeletal muscle with insulin resistance has been shown. The effects of irisin and myonectin, which are members of the myokine family, on lipid and glucose metabolism are known.What do the results of this study add? Although there are many studies in the literature regarding serum irisin levels in women with PCOS, their results are confusing. There is a study in the literature investigating the relationship between myonectin and PCOS. In our study, we evaluated myonectin and FNDC mRNA expressions in addition to serum irisin and myonectin levels. As a result, we found that markers and their mRNA expressions were lower in patients with PCOS compared to controls.What are the implications of these findings for clinical practice and/or further research? We think that the results of our study will shed light on future studies. Due to their effects on adipose tissue, these markers may play a role in the aetiology of long-term complications of PCOS. Moreover, they can become pharmacological targets in preventing these complications.

Telomere Length and Oxidative Stress in Patients with ST-Segment Elevation and Non-ST-Segment Elevation Myocardial Infarction.

PURPOSE: The telomere length is shown to act as a biomarker, especially for biological aging and cardiovascular diseases, and it is also suggested that with this correlation, increased exposure to the oxidative stress accelerates the vascular aging process. Therefore, this study aims to understand the correlation between the plasma oxidative stress index (OSI) status and leukocyte telomere length (LTL) and cardiologic parameters between the ST-segment elevation myocardial infarction (STEMI) and non-ST-segment elevation myocardial infarction (NSTEMI) groups. METHOD: One hundred one newly diagnosed patients with STEMI (n = 55) and NSTEMI (n = 46) were included in the study, along with 100 healthy controls who matched the patients in terms of age and gender. Plasma total antioxidant status (TAS), total oxidant status (TOS), and LTL were measured. RESULTS: When LTL, TAS, TOS, and OSI values were evaluated between the patient and control group, OSI (p = 0.000) and LTL (p = 0.05) values were statistically significant in the patient group compared to the control group. Evaluation was conducted to understand whether there is a difference between the STEMI and NSTEMI groups. The plasma OSI (p = 0.007) and LTL (p = 0.05) were found to be significantly lower in STEMI patients. However, LTL and OSI results were not statistically significant in NSTEMI patients. CONCLUSION: This is the first study evaluating telomere length and oxidative stress in STEMI and NSTEMI patients in Turkey. Our results support the existence of short telomere length in STEMI patients. Future studies on telomere length and oxidative stress will support the importance of our findings.

Circulating Myonectin and Irisin Levels in Gestational Diabetes Mellitus - A Case-control Study.

OBJECTIVE: The objective of this study was to assess the levels of serum myonectin and irisin in pregnant women with and without gestational diabetes mellitus (GDM). METHOD: A total of 80 pregnant women participated in our study (which consisted of 40 patients with GDM, 40 participants as the control group). Myonectin and irisin levels were analyzed through the ELISA technique, in addition to metabolic parameters in the serum samples of the participants. RESULTS: It was found that the levels of irisin and myonectin were lower in the GDM group compared to the control group. Moreover, it was determined that the values of age (p<0.001), body mass index (p=0.001), gravida (p=0.001), parity (p = 0.016), fasting serum glucose (p=0.001), fasting serum insulin (p=0.007), postprandial serum glucose (p=0.006), HbA1c (p<0.001), HOMA-IR (p<0.001) were higher; HDL cholesterol (p<0.001) was lower. Insulin resistance was significantly higher in the GDM group. CONCLUSIONS: Levels of myonectin and irisin were determined to be low in the GDM group. Our results have demonstrated that myonectin and irisin could play a role in the development of GDM and that irisin as well as myonectin could be a novel biomarker for GDM.

Telomere Length in Idiopathic Recurrent Pregnancy Loss.

OBJECTIVE: Telomere length is used as an indicator of biological aging. It is well known that one of the most remarkable risk factors of recurrent pregnancy losses is advanced maternal age. The objective of this study was to investigate the correlation between idiopathic recurrent pregnancy loss and telomere length. METHOD: The study group included 40 women, while the control group consisted of 41 healthy women whose age and body mass index were matched. A venous blood sample was taken from all participants into EDTA tubes in the early follicular phase, and telomere length was measured through the qPCR technique. RESULTS: When the mean TL of the groups was compared, it was determined that TL was significantly shorter among the iRPL group (7763.89±924.58 base pair) compared to the control group (8398.84±1102.95 base pair) (p<0.006). Whereas FSH and E2 were higher in the iRPL group, TAFC was lower (p<0.001). When the correlation between telomere length and endocrine parameters was statistically tested in the iRPL group, a negative correlation was found between FSH and telomere length (r=-0.437; p<0.001). CONCLUSION: Shortened telomere length might play a role in the etiology of iRPL. We are of the opinion that patients with RPL should be screened for the presence of cardiovascular diseases and other chronic diseases, as is the case for POF.

Immune Responses to SARS-CoV, MERS-CoV and SARS-CoV-2.

The world has given an outbreak alarm in the last two decades, with different members of the coronavirus family infecting people at different times. The spread of the SARS-CoV-2 virus, which last appeared in December 2019 in China and spread rapidly to all over the world, has led the scientific world to studies on these viruses. While scientists are trying to develop vaccines or drugs against the virus, the body's immune response to the virus is emerged the biggest guide. In this review, we aimed to provide a good view on immune strategies by comparing immunological responses to SARS-CoV-2 disease among other members of the family, SARS-CoV and MERS-CoV. In the near future, it may contribute to vaccine or drug studies to be developed on immune intervention.

High prevalence of immunoglobulin light chain gene aberrations as revealed by FISH in multiple myeloma and MGUS.

Multiple myeloma (MM) is a malignant B-cell neoplasm characterized by an uncontrolled proliferation of aberrant plasma cells in the bone marrow. Chromosome aberrations in MM are complex and represent a hallmark of the disease, involving many chromosomes that are altered both numerically and structurally. Nearly half of the cases are nonhyperdiploid and show IGH translocations with the following partner genes: CCND1, FGFR3 and MMSET, MAF, MAFB, and CCND3. The remaining 50% are grouped into a hyperdiploid group that is characterized by multiple trisomies involving chromosomes 3, 5, 7, 9, 11, 15, 19, and 21. In this study, we analyzed the immunoglobulin light chain kappa (IGK, 2p12) and lambda (IGL, 22q11) loci in 150 cases, mostly with MM but in a few cases monoclonal gammopathy of undetermined significance (MGUS), without IGH translocations. We identified aberrations in 27% (= 40 patients) including rearrangements (12%), gains (12%), and deletions (4.6%). In 6 of 18 patients with IGK or/and IGL rearrangements, we detected a MYC rearrangement which suggests that MYC is the translocation partner in the majority of these cases.

Is STARD3 A New Biomarker for Breast Cancer?

Despite advances in diagnosis and treatment, breast cancer is still one of the three most common cancers in the world and a significant cause of morbidity and mortality. Lipids play a role in many basic physiological pathways in cells, from regulating cell homeostasis to energy expenditure. As in many types of cancer, changes in lipid metabolism and their relationship have been reported in breast cancer. The STARD3 gene encodes a member of the subfamily of lipid trafficking proteins. It is a sterol-binding protein that mediates the transport of cholesterol from the endoplasmic reticulum to endosomes. It has been shown that STARD3 is correlated with human epidermal growth factor receptor 2 (HER2) amplification since it has the same localization as HER2 in the chromosome. In this review, we aimed to emphasize that investigating lipid metabolism together with the STARD3 biomarker has great potential not only for subtype-specific strategies but also for patient-specific strategies.

In Silico and In Vitro Studies of Novel Azomethines on DNA Repair Genes in Gastric Cell Lines.

We herein report the determination of the cytotoxic activity and expression profiles of some DNA repair genes of newly synthesized azomethines in the gastric cancer cell line (AGS). The studied novel compounds were synthesized by a condensation reaction and received compounds were characterized by 1H and 13C NMR spectroscopy methods. Furthermore, they were applied to the AGS cell line at eight different concentrations (0.1-50 µg/mL). Anticancer activities were determined using the MTT method. Expression levels of ATR, ERCC1, TOP2A, and ABCB1 genes were determined by the RT-PCR method. Biochemical parameters were also examined. The interaction of proteins with other proteins was investigated with the String v11 program. The IC50 values of compounds 1, 2, and 3 obtained after 72 h were 23.10, 8.93, and 1.58 µg/mL, respectively. The results demonstrate that the cytotoxic activity of compound 3 on AGS cancer cells is higher in comparison with other molecules. It was determined that the expression levels of ATR, TOP2A, and ABCB1 genes in compounds 1, 2, and 3 were decreased compared to the control group. In addition, it was determined that ERCC1 gene expression increased in compound 3, decreased in compound 2, and remained unchanged in compound 1 (p < 0.001). In AGS gastric cancer cells, a 64% decrease was detected for GST levels in compound 1, while a 38% decrease in GSH levels in compound 2. In addition, compounds 1-3 were examined at the molecular level with computational techniques and the docking studies revealed 4LN0 as a target protein.

International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking and promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4.

Hypotheses explaining pathogenesis of secondary hyperparathyroidism (SH) in late and severe CKD as a unique entity called Sagliker syndrome (SS) are still unclear. This international study contains 60 patients from Turkey, India, Malaysia, China, Romania, Egypt, Tunisia, Taiwan, Mexico, Algeria, Poland, Russia, and Iran. We examined patients and first degree relatives for cytogenetic chromosomal abnormalities, calcium sensing receptor (Ca SR) genes in exons 2 and 3 abnormalities and GNAS1 genes mutations in exons 1, 4, 5, 7, 10, 13. Our syndrome could be a new syndrome in between SH, CKD, and hereditary bone dystrophies. We could not find chromosomal abnormalities in cytogenetics and on Ca SR gene exons 2 and 3. Interestingly, we did find promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. We finally thought that those catastrophic bone diseases were severe SH and its late treatments due to monetary deficiencies and iatrogenic mistreatments not started as early as possible. This was a sine qua non humanity task. Those brand new striking GNAS1 genes missense mutations have to be considered from now on for the genesis of SS.

Association between rs1421085 and rs9939609 Polymorphisms of Fat Mass and Obesity-Associated Gene with High-Density Lipoprotein Cholesterol and Triglyceride in Obese Turkish Children and Adolescents.

Several studies have shown that rs9939609 and rs1421085 in fat mass and obesity-associated ( FTO ) gene rs17782313 and rs12970134 in melanocortin-4 receptor ( MC4R ) gene influence obesity. In the present study, we aimed to determine association between rs9939609, rs1421085, rs17782313, and rs12970134 polymorphism, and their relation with body mass index (BMI), glucose, insulin, homeostasis model assessment of insulin resistance (HOMA-IR) and lipid values in obese children. We included 100 newly diagnosed obese children and 100 healthy children. The rs1421085 (CC/CT) ( p = 0.019) and rs9939609 (AA/AT) ( p = 0.002) polymorphism regions were higher in the obese group. Additionally, we found that both the rs1421085 (CC/CT) and rs9939609 (AA/AT) polymorphism associated with high-density lipoprotein cholesterol ( p = 0.011 and p = 0.003) and triglycerides ( p = 0.01 and p = 0.004) level, respectively. Further, the rs9939609 and rs1421085 variants of FTO gene associated with HDL-cholesterol and triglycerides levels in obese children; however, updated studies with a large sample size are required to establish strong links with genetic variants and risk factors in childhood obesity.

Nephroprotective effect of apilarnil in lipopolysaccharide-induced sepsis through TLR4/NF-κB signaling pathway.

AIMS: In this study, we aimed to investigate the protective effect of apilarnil on kidney damage in the sepsis model induced by LPS. MAIN METHODS: 64 Sprague Dawley adult male rats were randomly divided into eight groups; control group, groups in which 0.2, 0.4 and 0.8 g/kg/bw apilarnil (API) was applied by oral gavage method for 10 days, LPS group in which 30 mg/kg/bw lipopolysaccharide (LPS) administered as intraperitoneally, groups in which LPS + 0.2, LPS+ 0.4 and LPS +0,8 API was applied. Six hour after the last administration the rats were anesthetized for euthanasia and kidney tissues were removed for RT-PCR analysis, immunohistochemical analysis and histopathologic analysis. KEY FINDING: According to the results of RT-PCR expression levels of IL-6, IL-1ß, NF-κB, TNF-α and TLR4 were significantly reduced in the LPS + 0,8 API group. Immunoreactivity of TLR4, pNF-κB and TNF-α levels in the LPS + 0.8 apilarnil group were significantly lower than in the LPS and LPS + 0.2 apilarnil groups. Histologically, compared to the LPS group the glomerular damage score tended to decrease in the LPS + 0,4 API and LPS+ 0,8 API groups, while the tubulointerstitial injury score decreased especially in the LPS + 0,8 API group. SIGNIFICANCE: In the present study, 0,8 g/kg dose of apilarnil promoted potential renoprotective effects which were achieved, at least in part, by the modulation of important markers of the local immune response in the model of LPS-induced sepsis.

Frequency and types of chromosomal abnormalities in Turkish women with amenorrhea.

STUDY OBJECTIVE: To estimate the frequency and the type of chromosomal abnormalities (CA) in patients with primary (PA) and secondary amenorrhea (SA). DESIGN: This retrospective study was comprised of patients had been referred to our laboratory between 1990 to 2008 and designed as original article. SETTING: Medical Faculty of Cukurova University in Turkey. PARTICIPANTS: Chromosomal analysis was carried out on 393 patients with PA and SA that were referred to Cytogenetic laboratory of Medical Biology and Genetic Department, Faculty of Medicine, Çukurova University. INTERVENTIONS: Lymphocyte culturing depended karyotyping. MAIN OUTCOME MEASURES: Standard lymphocyte culturing procedure and karyotyping was performed to all samples. RESULTS: PA and SA were identified in 393 patients. The karyotype was normal in 337 cases (85.8%) and abnormal in 56 (14.2%) patients. CAs were found in 54 (13.7%) and 2 (0.5%) of women with PA and SA, respectively. Females carrying rearrangements between autosomal and sex chromosomes were detected in 2% (8/393). The numerical abnormalities of the X chromosome were detected in 39.3% (22/56) (monosomy and mosaic). Structural abnormalities of the X and the other chromosomes were detected in 25.5% (13 of 56). Structural mosaicism of X chromosome was found in 5.4% (3 of 56). Male karyotype (46, XY) was found in 33.9% (19/56). The most frequently detected abnormality were X chromosome monosomies or mosaics. CONCLUSIONS: Our study revealed that some causes of amenorrhea could be due to CAs. Therefore, cytogenetic study should be important test in the evaluation of patients with PA or SA. The most common abnormality seen is 45,X karyotype (monosomy X/Turner Syndrome) and its variants.

Genetic alterations of chromosomes, p53 and p16 genes in low- and high-grade bladder cancer.

A majority of patients with bladder cancer present with superficial disease and subsequently, some patients show progression to muscle invasive or metastatic disease. Bladder cancer has a complex genetic process and identification of the genetic alterations which occur during progression may lead to the understanding of the nature of the disease and provide the possibility of early treatment. The aim of the present study was to compare the structural and numerical chromosomal differences and changes in the p16 and p53 genes between low-grade (LG) and high-grade (HG) bladder cancer (BC) using cytogenetic and molecular cytogenetic methods. Between March 2009 and March 2010, cytogenetic analyses were carried out on tumor and blood samples in 34 patients with transitional cell type BC, and on blood samples of 34 healthy patients as a control group. Fluorescence in situ hybridization probes for the p16 and p53 genes were also used to screen the alterations in these genes in 32 patients with BC. The patients were divided into two groups (LG and HG) and the findings were compared. A total of 11 (32.3%) patients exhibited LGBC, 22 (64.7%) exhibited HGBC and one (3%) patient exhibited carcinoma in situ. There were no differences between the LGBC and HGBC groups according to the number of chromosomal aberrations (P=0.714); however, differences between alterations of the p16 and p53 genes were significant (P=0.002 and P=0.039). Almost all structural abnormalities were found to be located to the 1q21, 1q32, 3p21 and 5q31 regions in patients with HG tumors. In conclusion, the p16 and p53 genes were altered more prominently in patients with HG tumors compared with LG tumors. The structural abnormalities in the 1q21, 1q32, 3p21 and 5q31 regions were observed more frequently in patients with HG tumors. These regions may play significant roles in the progression of BC, but further studies are required to find candidate genes for a panel of BC.

Mesenchymal stem cell: does it work in an experimental model with acute respiratory distress syndrome?

We hypothesized that bone marrow-derived mesenchymal stem cells (BM-MSCs) would have a possible role in the treatment of acute respiratory distress syndrome (ARDS). ARDS disease model was developed in Wistar albino male rats by intratracheal instillation of physiological saline solution. Anesthezied and tracheotomized rats (n = 8) with ARDS were pressure-controlled ventilated. Isolated and characterized rat (r-) BM-MSCs were labeled with GFP gene, and introduced in the lungs of the ARDS rat-model. After applying of MSCs, the life span of each rat was recorded. When rats died, their lung tissues were removed for histopathological examination. Also the tissue sections were analyzed for GFP labeled rBM-MSCs and stained for vimentin, CK19, proinflammatory (MPO, IL-1ß, IL-6 and MIP-2) and anti-inflammatory [IL-1ra and prostaglandin E2 receptor (EP3)] cytokines. The histopathological signs of rat-model ARDS were similar to the acute phase of ARDS in humans. rBM-MSCs were observed to home in lung paranchyma. Although the infiltration of neutrophils slightly decreased in the interalveolar, peribronchial and perivascular area, a notable improvement was determined in the degree of hemorrhage, edema and hyaline membrane formation in rats treated with rBM-MSCs. Also decreased proinflammatory cytokines levels and increased the intensity of anti-inflammatory cytokines were established. Therefore MSCs could promote alveolar epithelial repair by mediating of cytokines from a proinflammatory to an anti-inflammatory response. As a novel therapeutic approach, mesenchymal stem cell treatment with intratracheal injection could be helpful in the management of critically ill patients with ARDS.

Chromosome imbalances and alterations in the p53 gene in uterine myomas from the same family members: familial leiomyomatosis in Turkey.

Uterine leiomyomas (UL) are extremely common neoplasms in women of reproductive age, and are associated with a variety of characteristic choromosomal aberrations (CAs). The p53 gene has been reported to play a crucial role in suppressing the growth of a variety of cancer cells. Therefore, the present study investigated the effects of CAs and the p53 gene on ULs. We performed cytogenetic analysis by G-banding in 10 cases undergoing myomectomy or hysterectomy. Fluorescence in situ hybridization (FISH) with a p53 gene probe was also used on interphase nuclei to screen for deletions. In patients, CAs were found in 23.4% of 500 cells analysed, significantly more frequent than in the control group (p<0.001). In the patients, 76% of the abnormalities were structural aberrations (deletions, translocations and breaks), and only 24% were numerical. Deletions were the most common structural aberration observed in CAs. Among these CAs, specific changes in five loci 1q11, 1q42, 2p23, 5q31 and Xp22 have been found in our patients and these changes were not reported previously in UL. The chromosome breaks were more frequent in cases, from high to low, 1, 2, 6, 9, 3, 5, 10 and 12. Chromosome 22, X, 3, 17 and 18 aneuploidy was observed to be the most frequent among all numerical aberrations. We observed a low frequency of p53 losses (2-11%) in our cases. The increased incidence of autosomal deletions, translocations, chromatid breaks and aneuploidy, could contribute to the progression of the disease along with other chromosomal alterations.

Chromosome imbalances and alterations of AURKA and MYCN genes in children with neuroblastoma.

BACKGROUND: Neuroblastoma (NB), like most human cancers, is characterized by genomic instability, manifested at the chromosomal level as allelic gain, loss or rearrangement. Genetics methods, as well as conventional and molecular cytogenetics may provide valuable clues for the identification of target loci and successful search for major genes in neuroblastoma. We aimed to investigate AURKA and MYCN gene rearrangements and the chromosomal aberrations (CAs) to determine the prognosis of neuroblastoma. METHODS: We performed cytogenetic analysis by G-banding in 25 cases [11 girls (44%) and 14 boys (66%)] and in 25 controls. Fluorescence in situ hybridization (FISH) with AURKA and MYCN gene probes was also used on interphase nuclei to screen for alterations. RESULTS: Some 18.4% of patient cells exhibited CAs., with a significant difference between patient and control groups in the frequencies (P<0.0001). Some 72% of the cells had structural aberrations, and only 28% had numerical chnages in patients. Structural aberrations consisted of deletions, translocations, breaks and fragility in various chromosomes, 84% and 52% of the patients having deletions and translocations, respectively. Among these expressed CAs, there was a higher frequency at 1q21, 1q32, 2q21, 2q31, 2p24, 4q31, 9q11, 9q22, 13q14, 14q11.2, 14q24, and 15q22 in patients. 32% of the patients had chromosome breaks, most frequently in chromosomes 1, 2, 3, 4, 5, 8, 9, 11, 12, 19 and X. The number of cells with breaks and the genomic damage frequencies were higher in patients (p<0.001). Aneuploidies in chromosomes X, 22, 3, 17 and 18 were most frequently observed. Numerical chromosome abnormalities were distinctive in 10.7% of sex chromosomes. Fragile sites were observed in 16% of our patients. CONCLUSION: Our data confirmed that there is a close correlation between amplification of the two genes, amplification of MYCN possibly contributing significantly to the oncogenic properties of AURKA. The high frequencies of chromosomal aberrations and amplifications of AURKA and MYCN genes indicate prognostic value in children with neuroblastomas and may point to contributing factors in their development.

MTHFR gene polymorphisms in bladder cancer in the Turkish population.

Bladder cancer is the 9th most common cancer and is responsible for malignancy related death all on the world. Folate and folate related enzyme polymorphisms related to the cancer risk. The methylene tethrahydrofolate reductase (MTHFR) enzyme is folate related and association of bladder cancer and MTHFR gene. Our purpose was to assess the prevalence of MTHFR gene 677 CT and 1298 AC polymorphisms and Bladder cancer in Turkey. We intended that bladder cancer patients and controls and we used the Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) methods. The MTHFR gene C677T and A1298C polymorphisms were associated with an increased risk of bladder cancer in our population (For the MTHFR gene C677T polymorphism and A1298C polymorphism; p=0.036<0.05; p=0.278>0.05 respectively). Consequently, the MTHFR gene C677T polymorphism augments the risk of bladder cancer in Turkey.

The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women.

AIM: The purpose of this article was to evaluate the reliability of maternal serum triple marker screening of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol for the prenatal diagnosis of fetal chromosomal abnormalities in Turkish pregnant women. METHOD: Medical records were used to analyze indications of amniocentesis and quantitative fluorescent-polymerase chain reaction. Anomaly screening was performed for all patients between 13 and 22 weeks of pregnancy. A total of 1725 pregnancies with chromosomal abnormality risk according to triple test screening were accepted for fetal chromosome analysis and quantitative fluorescent-polymerase chain reaction. RESULTS: Chromosomal aberrations were observed in 56 (3.2%) cases. About 44.6% of the abnormalities detected were numerical aberrations; however, 55.3% of the abnormalities were structural aberrations. Abnormalities detected were inversion of chromosome 9 in 20 cases, trisomy 21 in 14 cases, 46,XX/47,XX, +21 in 1 case, trisomy 18 in 2 cases, trisomy 13 in 1 case, 47,XXY, in 1 case, 45,X, in 1 case, structural abnormalities in 12 cases, and mosaic or tetraploidy in 6 cases. CONCLUSION: Second trimester triple test is an effective screening tool for detecting fetal Down syndrome in Turkish women.