BD Chloraprep™ ("2 % chlorhexidine with 70 % isopropyl alcohol") versus povidone iodine plus alcohol, for prevention of blood culture contamination at children: An investigator-initiated, open-label, single centre, randomized controlled trial.

INTRODUCTION: One of the important problems that lower the diagnostic value of blood culture is contamination with skin organisms. The povidone-iodine, alcohol, and chlorhexidine gluconate alcohol are used for disinfection prior to blood sampling for culture. METHODS: The investigator-initiated, open label, single centre, randomised trial compared blood culture contamination rates between two groups of patients in which using a povidone iodine skin-preparation process with the contamination rate for using "2 % chlorhexidine with 70 % isopropyl alcohol" skin-disinfection. The patients who required sampling for blood cultures were included in the study and study period was from 15 March 2023 to 15 July 2023. RESULTS: A total of 400 blood cultures were obtained during the study, including 133 in the study group and 267 in the control group. In the total blood cultures, 11.75 % (n = 47) had microorganism isolation. Among them 39 (9.75 %) were contaminants and 8 (2 %) of them were true pathogens. The contaminant microorganisms were as following; 34 coagulase-negative Staphylococci, 3 Micrococcus spp, and 2 Streptococci viridans. The blood culture contamination rate in the study group was 5.3 % (n = 7) and 12.0 % (n = 32) in the control group, and significantly lower in the study group (p = 0.033). There is no significant difference regarding skin related side effects between two groups. CONCLUSIONS: This study, showed that 2 % chlorhexidine gluconate in 70 % isopropyl alcohol is more efficacious in children than 10 % povidone-iodine preparations for disinfecting the skin prior to blood specimen collection for prevention of blood culture contamination.

Follow-Up of Cases with the Telemedicine Method During the COVID-19 Pandemic: An Alternative Strategy for Reduction of Hospital Workload and Hospital-Related Transmissions.

Background: This study evaluated the effect of telemedicine use in children with COVID-19 to reduce the workload of health care facilities. Methods: This study was conducted at Dr. Behçet Uz Children's Hospital between October and December 2020. The complaints of the children who were called because of positivity for severe acute respiratory syndrome-CoV-2-PCR were questioned and also the duration of talk was recorded. Children were classified according to their symptoms. Cases with severe symptoms were invited to the hospital and were hospitalized according to their clinical findings. Results: The median age of 506 patients reached was 10.8 ± 5.5. Phone calls lasted <3 min in 498 (98.6%) cases. Only 33 (6.5%) patients with severe symptoms were invited to the hospital, and 6 (18.2%) of these cases were hospitalized. Conclusion: During the pandemic, interviews with patients through telephone may help to reduce the patient burden and to prevent the contact of healthy individuals.

Evaluation of childhood hospitalization rates and degree of severity of SARS-CoV-2 variants, including B.1.1.7 (Alpha), B.1.315/P.1 (Beta/Gamma), and B.1.617.2 (Delta).

Severe acute respiratory syndrome coronavirus 2 is reappearing with an increasing number of variants every day; this study aimed to determine the effect of B.1.1.7 (Alpha), B.1.351 (Beta), P.1 (Gamma), and B.1.617.2 (Delta) variants on hospitalization rates. This single-center study was conducted at the University of Health Sciences Dr. Behçet Uz Children's Hospital from March 11 to August 27, 2021. Variant analyses of symptomatic patients admitted to the hospital who were found to be positive for COVID 19 PCR was performed. Out of 680 cases, 329 (48.4%) were B.1.1.7 variant, 17 (2.5%) were B.1.351/P.1 variant, and 165 (24.2%) were B.1.617.2 variant. One hundred and sixty-nine (24.9%) case variant analysis results were negative. The hospitalization rate of patients with the B.1.617.2 variant was 19.4%, the B.1.351/P.1 variant was 18%, the B.1.1.7 variant was 9.4%, and the negative variant was 10.1%. The B.1.617.2 (Delta) variant, which has become widespread all over the world recently, increases the rate of hospitalization in children.

Evaluation of predictors of severe-moderate COVID-19 infections at children: A review of 292 children.

Although the underlying disease is associated with a severe course in adults and laboratory abnormalities have been widely reported, there are not sufficient data on the clinical course of coronavirus disease 2019 (COVID-19) in children with pre-existing comorbid conditions and on laboratory findings. We aimed to describe the independent risk factors for estimating the severity of the COVID-19 in children. All children between 1 month and 18 years old who were hospitalized during the period of March 11-December 31, 2020, resulting from COVID-19 were included in the study. Patients were categorized into mild (group 1) and moderate + severe/critically (group 2) severity based on the criteria. Demographic characteristics, comorbidities, and laboratory variables between the two groups were compared. A total of 292 children confirmed to have COVID-19 infection were included in the study. The most common associated diseases were obesity (5.1%) and asthma bronchiale (4.1%). We observed that disease progressed more severely in patients with underlying diseases, especially obesity and asthma bronchiale (for patients with obesity odds ratio [OR] 9.1, 95% confidence interval [CI] 1.92-43.28, p = 0.005 and for patients with asthma bronchiale OR 4.1, 95% CI 1.04-16.80, p = 0.044). In group 2 patients, presence of lymphopenia and hypoalbuminemia, and also an elevation in serum levels of C-reactive protein, procalcitonin, and uric acid were detected and these results were statistically significant (p values; p < 0.001, p = 0.046, p = 0.006, p = 0.045, p < 0.001, respectively). The strongest predictor of moderate-severe COVID-19 infections in the children was uric acid, with an odds ratio of 1.6 (95% CI 1.14-2.13, p = 0.005) and lymphocytes with an odds ratio of 0.7 (95% CI 0.55-0.88, p = 0.003). Although children are less susceptible to COVID-19, the pre-existing comorbid condition can predispose to severe disease. In addition, lymphopenia and high uric acid are indicators that COVID-19 infection may progress more severely.

The Effect of Five Single Nucleotide Polymorphisms on Hb F Variation of ß-Thalassemia Traits and Hematologically Normal Individuals in Southeast Turkey.

ß-Thalassemia (ß-thal) is caused by deficiency of ß-globin chain synthesis and leads to the accumulation of unstable globin chain production. This results in a higher Hb F level in order to neutralize the excess α chains. In addition, γ-globin gene expression, due to genetic factors after birth, leads to increased Hb F levels in adulthood [hereditary persistence of fetal hemoglobin (Hb) (HPFH)]. In this study, the relationship between ß-thal trait and individuals with suspected HPFH and a control group was investigated in Adiyaman, Turkey. Single nucleotide polymorphism (SNP) analyses were performed in five different polymorphic regions using real-time polymerase chain reaction (qPCR) methods [rs4671393 (G>A), rs766432 (A>C), rs9402686 (G>A), rs28384513 (T>G), rs1609812 (A>G)]. No significant difference was found between the control and ß-thal group in the codominant inheritance model in the rs1609812 (A>G) polymorphism region only, while all the other polymorphic regions were found to be statistically significant. It was found that different genotype models increased Hb F levels between 1.6- and 3.06-fold in four studied polymorphic regions [rs4671393 (G>A), rs766432 (A>C), rs9402686 (G>A), rs28384513 (T>G)]. All of the polymorphic regions increased the Hb F levels from 1.86- to 24.76-fold, except rs9402686 (G>A) and rs28384513 (T>G) over dominant and rs1609812 (A>G) codominant inheritance models. The AC and AA genotypes increased Hb F levels in the B-cell CLL/lymphoma 11 A haplotype studies. It was determined that both haplotypes 2 and 4 increased Hb F levels. As a result, SNPs strongly affect the Hb F levels in both healthy individuals and ß-thal trait.

The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH).

In the present study, sixty-two samples that have 1.5% and upper level of fetal hemoglobin (HbF), were examined to investigate the relationship between HbF level and non-deletional mutations in both Gγ (G gamma) globin (HBG2) and Aγ (A gamma) globin (HBG1) genes. Four variations were observed in the promotor of Gγ gene, which are -158C/T, -309A/G, -369C/G, and -567T/G. Also, four variations were observed in the 5'-UTR (untranslated regions) and promotor of Aγ gene, which are +25G/A, -369G/C, -499T/A, and -588G/A. One -222/-225 AGCA del homozygous and six variations as heterozygous in A gamma globin gene promotor region were also observed. The results of the current study suggested that there was a significant relationship between high HbF levels and two variations (-309A/T and -369C/G) in Gγ gene promotor. Additionally, a significant relationship between two variations (+25G/A and -499T/A) in Aγ gene promotor was also observed. Furthermore, the persons who carry these variations with high levels of HbF indicated that there might be a haplotype effect between these variations.

Genetic polymorphisms in human telomerase reverse transcriptase (hTERT) gene polymorphisms do not associated with breast cancer in patients in a turkish population: hospital-based case-control study.

Breast cancer (BC) is encountered most frequently in developed or developing countries. It is the most common cancer in humans following lung cancer, and it is the most common cancer type resulting in mortality in women. Genetic polymorphisms are among the genetic factors that play an important role in the development of the breast cancer. The purpose of this study was to investigate the effect of five functional single nucleotide polymorphisms (SNPs) of hTERT (rs2736109 G>A, rs2735940 T>C, rs2853669 A>G, rs2736098 G>A, and rs2736100 T>G) on susceptibility to BC in Turkish population. The genotype frequency of hTERT rs2736109 G>A, rs2735940 T>C, rs2853669 A>G, rs2736098 G>A, and rs2736100 T>G polymorphisms were determined by using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and TaqMan methods in 123 subjects with GC and 122 healthy control subjects. The mean age value of the BC patients was 51.58±11.28 (among them 8 subjects ≤35 and 115 subjects >35). In this study, it was found that there was no statistical difference between hTERT rs2736109 G>A, rs2735940 T>C, rs2853669 A>G, rs2736098 G>A, and rs2736100 T>G polymorphisms that can be associated with risk of BC.

A functional HOTAIR rs12826786 C>T polymorphism is associated with breast cancer susceptibility and poor clinicopathological characteristics in a Turkish population: a hospital-based case-control study.

Hox transcript antisense intergenic RNA (HOTAIR), a long non-coding RNA (lncRNA), is pervasively overexpressed and correlated with tumor invasion, progression, metastasis, and poor prognosis in various human cancers including breast cancer (BC) that plays a role as an oncogenic molecule. A common functional single-nucleotide polymorphism (SNP) (rs12826786 C>T) at the HOTAIR promoter has been reported to influence HOTAIR expression and gastric adenocarcinoma susceptibility, but relation of HOTAIR rs12826786 C>T polymorphism with BC susceptibility and clinicopathological characteristics has yet to be reported. To explore the association of the HOTAIR rs12826786 C>T polymorphism with the risk of BC in a Turkish population, a hospital-based case-control study was carried out consisting of 123 BC patients and 122 age-matched healthy controls. HOTAIR rs12826786 C>T polymorphism was determined by real-time polymerase chain reaction (PCR) using TaqMan assay. We found that women carrying TT genotype of HOTAIR rs12826786 C>T polymorphism had an increased risk of developing BC in both codominant (odds ratio (OR) = 2.24, 95 % confidence interval (CI) 1.05-4.81, P = 0.02) and recessive (OR = 2.49, 95 % CI 1.25-4.97, P = 0.008) inheritance models. Moreover, TT genotype of HOTAIR rs12826786 C>T polymorphism was significantly related with multiple clinicopathological characteristics concerned with worse BC progression such as advanced TNM stage (III and IV), larger tumor size (T3 and T4), and distant metastasis (M1), as well as poor histological grade (III) (P < 0.05). Because of our results put forward for the first time that TT genotype of HOTAIR rs12826786 C>T polymorphism might play crucial roles in genetic susceptibility and poor prognosis for BC in Turkish population, further independent studies are needed to confirm our results in a larger series, as well as in patients of distinct populations.

Effect of p53 Arg72Pro polymorphism on the induction of micronucleus by aflatoxin B1 in in vitro in human blood lymphocytes.

Aflatoxin B1 (AFB1) is a class 1 carcinogen produced by Aspergillus flavus and Aspergillus parasiticus that can contaminate a variety of food substances, the liver being its target organ. A common p53 Arg72Pro polymorphism resulting in the substitution of an arginine amino acid by proline amino acid in the transactivating domain has been demonstrated to affect p53 function. The aim of this study is to investigate association between p53 Arg72Pro polymorphism and the frequencies of spontaneous and AFB1-induced DNA damage in peripheral blood lymphocytes from 100 healthy individuals in Turkish population. In vitro cytokinesis-blocked micronucleus (CBMN) assay was used to detect the spontaneous and AFB1-induced DNA damage whereas, genotyping of p53 Arg72Pro polymorphism was carried out by using a polymerase chain reaction restriction fragment length polymorphism assay. During 68 h incubation time, lymphocytes treated with AFB1 (1.56 µg/mL) and S9 mix for a total of 3 h (48-51 h). Treatment of the lymphocytes with AFB1 significantly increased the overall frequencies of micronucleus (MN) when compared to untreated cultures (1.23 ± 0.05 versus 0.55 ± 0.02; p <0.001). Moreover, genotype analysis revealed a statistically significant association between Pro/Pro genotype of p53 Arg72Pro polymorphism and increased frequencies of MN both spontaneous and AFB1-induced cultures when compared Arg/Arg genotype (0.69 ± 0.19 versus 0.46 ± 0.13, p < 0.001; 1.59 ± 0.65 versus 1.01 ± 0.41 p < 0.001; respectively). Our data indicate that p53 Arg72Pro polymorphism plays a significant role in human sensitivity to the genotoxic effects of AFB1. Further investigations in larger sample size and with different ethnic origins as well as including more functional single nucleotide polymorphisms might lead to the identification of novel genetic factors responsible for susceptibility to human carcinogens such as AFB1.

Effect of HOTAIR rs920778 polymorphism on breast cancer susceptibility and clinicopathologic features in a Turkish population.

Overexpression of Hox transcript antisense intergenic RNA (HOTAIR), a long non-coding RNA (lncRNA), is associated with cancer cell proliferation, invasion, progression, and metastasis as well as poor survival in a variety of human cancers including breast cancer (BC). A common functional single nucleotide polymorphism (SNP) rs920778 (T → C) in the intronic enhancer of the HOTAIR has been reported to influence HOTAIR expression and cancer predisposition, but the association of HOTAIR rs920778 polymorphism with BC susceptibility and clinicopathological features has yet to be investigated. We genotyped HOTAIR rs920778 polymorphism in 245 Turkish women including 123 BC patients and 122 age-matched healthy controls by a real-time polymerase chain reaction (PCR) with the TaqMan assay. We found that the CC genotype of HOTAIR rs920778 polymorphism significantly increased the risk of BC in both codominant (odds ratio (OR) = 2.12, 95 % confidence interval (CI) 1.00-4.51, P = 0.05) and recessive (OR = 2.40, 95 % CI 1.22-4.73, P = 0.01) inheritance genetic models. Our research also indicated an association between the CC genotype of HOTAIR rs920778 polymorphism and clinicopathologic features of tumor, including advanced tumor-node-metastasis (TNM) stage, larger tumor size, distant metastasis, and poor histological grade (P < 0.05). Because our findings suggest for the first time that the CC genotype of HOTAIR rs920778 polymorphism might play important roles in genetic susceptibility to BC development and aggressiveness in a Turkish population, further independent studies are required to validate our findings in a larger series, as well as in patients of different populations.

MicroRNA 211 expression is upregulated and associated with poor prognosis in colorectal cancer: a case-control study.

Increasingly more evidence support the role of the microRNAs (miRNA) in tumorigenesis. The role of up/downregulation microRNA-211 (miR-211) during human tumorigenesis is still contentious and may exhibit tissue-specific regulatory manner, but the exhaustive mechanisms underlying its pro/anti-oncogenic effects remain to be unknown. Sixty-six patients that were diagnosed and operated with colorectal cancer (CRC) and sixty-five healthy cases that were age and sex compatible with them were included in our study. miRNA was isolated from the formalin-fixed paraffin-embedded (FFPE) tissues of all cases. The expression level of miR-211 in matched normal and tumor tissues of CRC group and healthy group was evaluated using a quantitative real-time RT-PCR (qRT-PCR). Based on the average miR-211 levels, two groups of low or high expression were formed in CRC group. Correlation of the patients' clinicopathological factors and survival was also analyzed. No statistically significant differences were found in miR-211 levels among tumorous and normal tissues of CRC patient group (P = 0.59). Also, no statistically significant correlation was determined between clinicopathological factors and miR-211 expression level in CRC group. However, miR-211 expression levels between the CRC group and the healthy group were determined to be of statistical significance (P < 0.0001). There were 33 (50 %) CRC patients that expressed low levels of miR-211 and 33 (50 %) CRC patients that expressed high levels of miR-211. A median survival between low levels of miR-211 group and high levels of miR-211 group was evaluated via Kaplan-Meier, and the difference was of statistical significance (P = 0.035). The univariate analysis of the factors that may affect survival indicated invasion depth (P = 0.063), lymphovascular invasion (P = 0.011), perineural invasion (P = 0.009), and miR-211 expression level (P = 0.041) presence to be effective. In the multivariate analysis of these factors with overall survival, only miR-211 expression level (P = 0.01) was effective on overall survival. Our results suggest for the first time that miR-211 expressed more in CRC patients than in healthy group could be a new prognostic biomarker in order to predict survival. Independent studies are needed to validate our findings in a larger series, as well as in cancer of different tissues.

The role of interleukin 28B gene polymorphism in Turkish patients with hepatocellular carcinoma.

BACKGROUND AND AIM: Multiple risk factors lead to hepatocellular carcinoma (HCC) including viral infections, mutation and single nucleotide polymorphisms (SNPs). Interleukin 28B (IL28B) gene rs12979860 polymorphism has been shown to be associated with HCC in the different populations, but its association with HCC has not been investigated in the Turkish population. We investigated whether the rs12979860 polymorphism of IL28B gene affects the risk of HCC. MATERIAL AND METHOD: We performed genotyping analysis using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a hospital-based case-control study of 187 confirmed HCC patients and 208 healthy subjects (cancer and viral infection negative) in the Turkish population. RESULTS: The allele and genotype analysis showed no significant differences between the risk of HCC and IL28B gene rs12979860 polymorphism (OR = 1.10; 95% 0.59-2.08 P = 0.76 for genotype). However, in the HBV-related HCC subgroup, the TT genotype increased a 1.46-fold the risk of developing HCC, but not statistically significant (OR = 1.46; 95% 0.71-2.97 P = 0.30). Furthermore, no significant differences were found between clinical findings, and sex in comparison with the IL28B genotypes in HCC group (P > 0.05). CONCLUSION: Our results suggest, for the first time, that no significant association were found between IL28B rs12979860 genotypes with the risk of developing HCC in Turkish patients. Further independent investigations are required to clarify the possible role of IL28B gene rs12979860 polymorphism on the risk of developing HCC in a larger series and also in patients of different ethnic origins.

The evaluation of the burden of multisystem inflammatory syndrome in children on health economics.

Objectives: This study aimed to evaluate the diagnostic tests and treatments applied in patients with multisystem inflammatory syndrome in children (MIS-C) and to determine the effect of the disease on health costs. Patients and methods: This retrospective cohort study included 59 MIS-C patients (40 males, 19 females; mean age: 7.7±4.2 years; range, 4 months to 16.5 years) who were admitted and treated between April 1, 2020, and November 1, 2021. Demographic and clinical features with hospital costs and length of stay were retrospectively reviewed from the medical files and computerized system of the hospital. Direct medical care costs of items were calculated with the hospital perspective using a combination of microcosting technique (resource-based accounting method) and hospital list data. Cases were classified as mild, moderate, or severe, and the patients were divided into two groups: the mild group and the moderate-severe group. Classification was determined by the vasoactive inotropic score (VIS), degree of respiratory support, and evidence of organ damage. Results: The mean age of the cases in the mild group was 6.5±3.7 years, and the mean age of the cases in the moderate-severe group was 9.2±4.3 years. Of 59 patients, 19 (32.2%) were followed up in the pediatric intensive care unit. The median duration of hospitalization in the hospital was 8 (interquartile range: 7-12) days. The total cost of the patients hospitalized with the diagnosis of MIS-C during the study period was 849,242.93$, and the mean cost per patient was 14,393.94±9,631.92$. In the distribution of the total cost of hospitalization according to expenses, the highest rate was pharmacy and blood products (51.99%) and IVIG costs (43.99%). While the mean total cost per person was 13,682.87±8,799.63$ in mild cases, it was 16,433.82±9,440.02$ in moderate-severe cases, and no statistically significant relationship was found between the two groups (p>0.05). There was no difference in the mean cost per patient between the cases with and without heart, lung, kidney, or neurologic involvement and advanced respiratory support (p>0.05). There was a strong positive correlation between the total costs and age (r=0.883, n=59, p<0.0001), with increased amount of costs with increased age. Conclusion: In the study, no statistically significant correlation was found between the total cost of per person in the mild group and the moderate-severe group (p>0.05). This finding may be due to the wide use of IVIG in MIS-C treatment, in addition to low transfer rates to pediatric intensive care units due to high-flow nasal cannula usage.

A hidden burden of disease in a specific group: Evaluation of COVID-19 seroconversion rates in pediatric patients with leukemia.

BACKGROUND: SARS-CoV-2, a respiratory viral disease, is thought to have a more severe course in patients with malignancy and low immune systems. METHODS: This prospective single-center study was conducted at the University of Health Sciences Dr Behçet Uz Children's Hospital from September 22 to December 31, 2021. Asymptomatic COVID-19 transmission rates were assessed using SARS-CoV-2 serology in patients with leukemia who had no history of COVID-19 infection. RESULTS: Among the 54 patients, 19 (35.2%) were females and 35 (64.8%) were males. The median age was 5.5 years (min 6 months, max 17 years). Forty-nine (90.5%) of the leukemia patients had acute lymphoblastic leukemia, while 5 (9.5%) had acute myeloid leukemia. Five of the 54 patients had a history of COVID-19 or contact with a positive person. SARS-CoV-2 IgG positivity was detected in 18 (36.7%) of 49 patients with no history of COVID-19 infection. DISCUSSION: Leukemia patients have a high seroconversion for SARS-CoV-2 without showing any symptoms supporting the asymptomatic course of COVID-19 infection in this risk group. CONCLUSION: As a result, patients with leukemia may have a high rate of COVID-19 seroconversion without showing symptoms.

Comparative Analysis of Pediatric Brucellosis Cases With and Without Bacteremia.

Introduction: Brucellosis, which is among the endemic regions of Turkey, is a common zoonotic disease. The gold standard in diagnosing brucellosis is culture. We aimed to compare demographic characteristics, risk factors, and clinical and laboratory variables between cases with culture positivity and undetected in culture. Materials and Methods: This single-center study was conducted between January 2007 and April 2022. Clinical and laboratory data of patients with brucella growth in blood culture and patients without growth were compared. Results: A total of 150 patients were included in the study. The median age was 10 (1-18 years). Of the patients, 66 (44%) were female and 84 (56%) were male. Forty (26.7%) of the patients were bacteremic and 110 (73.3%) were nonbacteremic. In the bacteremic group, white blood cell count, platelet, and hemoglobin counts were lower, and aspartate aminotransferase (AST) and alanine aminotransferase (ALT) values were higher. In clinical evaluation, fever, hepatomegaly, splenomegaly, and abdominal pain were more common in the bacteremic group. Conclusion: The distinction between bacteremic and nonbacteremic brucellosis can be predicted using laboratory values such as white blood cells, hemoglobin counts, platelet, ALT, and AST, and clinical findings such as fever, abdominal pain, hepatomegaly, and splenomegaly.

The significance of Exonuclease 1 K589E polymorphism on hepatocellular carcinoma susceptibility in the Turkish population: a case-control study.

Exonuclease 1 (Exo 1) is an important nuclease involved in mismatch repair system that contributes to maintain genomic stability, to modulate DNA recombination, and to mediate cell cycle arrest. A guanine (G)/adenine (A) common single nucleotide polymorphism at first position of codon 589 in Exo 1 gene determines a glutamic acid (Glu, E) to lysine (Lys, K) (K589E) aminoacidic substitution which may alter cancer risk by influencing the activity of Exo 1 protein. Exo 1 K589E polymorphism has been studied in various cancers, but its association with hepatocellular carcinoma (HCC) has yet to be investigated. To determine the association of the Exo 1 K589E polymorphism with the risk of HCC development in a Turkish population, a hospital-based case-control study was designed consisting of 224 subjects with HCC and 224 cancer-free control subjects matched for age, gender, smoking and alcohol status. The genotype frequency of the Exo 1 K589E polymorphism was determined by using a polymerase chain reaction-restriction fragment length polymorphism assay. Our data shows that the Lys/Lys genotype of the Exo 1 K589E polymorphism is associated with increased risk of HCC development in this Turkish population [odds ratio (OR) = 2.15, 95% confidence interval (CI): 1.13-4.09, P = 0.02]. Furthermore, according to stratified analysis, a significant association was observed between the homozygote Lys/Lys genotype and HCC risk in the subgroups of male gender (OR = 2.67, 95% CI: 1.27-5.61, P = 0.009) and patients with non-viral-related HCC (OR = 3.14, 95% CI: 1.09-8.99, P = 0.03). Because our results suggest for the first time that the Lys/Lys homozygote genotype of Exo 1 K589E polymorphism may be a genetic susceptibility factor for HCC in the Turkish population, further independent studies are required to validate our findings in a larger series, as well as in patients of different ethnic origins.

p53 codon 72 polymorphism is associated with susceptibility to hepatocellular carcinoma in the Turkish population: a case-control study.

The tumor suppressor p53 gene plays a crucial role in preventing carcinogenesis through its ability to induce cell cycle arrest and apoptosis following DNA damage and oncogene activation. A guanine (G)/cytosine (C) common single nucleotide polymorphism (SNP) at second position of codon 72 in exon 4 of p53 gene determines a arginine (Arg) to proline (Pro) (Arg72Pro) aminoacidic substitution within the proline-rich domain of p53 protein. Arg72 and Pro72 allele are different from a biochemical and biological point of view and many reports suggest that they can modulate individual cancer susceptibility. To determine the association of the p53 Arg72Pro polymorphism with the risk of hepatocellular carcinoma (HCC) development in a Turkish population, a hospital-based case-control study was designed consisting of 119 subjects with HCC and 119 cancer-free control subjects matched for age, gender, smoking and alcohol status. The genotype frequency of the p53 Arg72Pro polymorphism was determined by using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Our data shows that the Pro/Pro genotype of the p53 Arg72Pro polymorphism is associated with increased risk of HCC development in this Turkish population (OR = 3.20, 95% CI: 1.24-8.22, P = 0.02). Furthermore, according to stratified analysis, a significant association was observed between the homozygote Pro/Pro genotype and HCC risk in the subgroups of male gender (OR = 3.01, 95% CI: 1.14-7.97, P = 0.03) and patients with hepatitis B virus (HBV)-related HCC (OR = 4.04, 95% CI: 1.46-11.15, P = 0.007). Because our results suggest for the first time that the Pro/Pro homozygote of p53 Arg72Pro polymorphism may be a genetic susceptibility factor for HCC (especially in the male gender and HBV-infected patients) in the Turkish population, further independent studies are required to validate our findings in a larger series, as well as in patients of different ethnic origins.

Prevalence of beta-thalassemia trait and abnormal hemoglobins in the province of Adiyaman, Turkey.

BACKGROUND/AIMS: Thalassemia is one of the most common hereditary disorders in Turkey. The aim of this study was to determine the prevalence of the beta-thalassemia trait and abnormal hemoglobins in the province of Adiyaman in Turkey. METHODS: The study included 3571 high school students of both sexes; aged 12-22 (mean 16.59 ± 1.34). After they received information about thalassemia, they were screened for beta-thalassemia and abnormal hemoglobin using complete blood count (CBC) and quantification of hemoglobin. Hemoglobin was fractionated using HPLC. RESULTS: The beta-thalassemia trait was found in 38 students (1.06%), and abnormal hemoglobin in seven students (0.20%). Of the latter, four carried HbD Los Angeles, two HbS, and one HbE-Saskatoon. CONCLUSION: The prevalence of the beta-thalassemia trait and abnormal hemoglobin in the province of Adiyaman is low, compared to the rest of Turkey. Our results seem to reflect the heterogeneity of beta-thalassemia in the province of Adiyaman and may be of value for genetic counseling and premarital screening.

Association of HOTAIR rs1899663 G>T Polymorphism with Colorectal Cancer in the Turkish Population: A Case-Control Study.

BACKGROUND: Long noncoding RNAs increase the overexpression of oncogenes. Cancer development and metastasis of cancer may occur as a result of overexpression of oncogenes. Polymorphisms in the genes (such as HOTAIR, etc.) in which long noncoding RNAs are synthesized affect the expression of these genes. Therefore, these polymorphisms may play a role in cancer development and cancer metastasis. The present study aimed to evaluate the association between HOTAIR gene rs1899663 G>T polymorphism with colorectal cancer. METHODS: The current study examined the HOTAIR gene rs1899663 G>T polymorphism in 100 patients with colorectal cancer and 93 healthy persons by a real-time polymerase chain reaction. RESULTS: The G and T allele frequencies of the HOTAIR rs1899663 polymorphism were significantly different between the case and control groups (P = .01). The persons carrying the G allele had a protective effect against colorectal cancer, while individuals carrying the T allele were predisposed to colorectal cancer (P = .001). Four of 5 colorectal cancer recurrence patients had the TT genotype (P = .02). CONCLUSION: This research is the first to demonstrate the relationship between colorectal cancer and the HOTAIR gene rs1899663 polymorphism in the Turkish population, which is a Caucasian population. Our results suggest that the rs1899663 G allele has a protective role for colorectal cancer in the Turkish population. However, it would be appropriate to conduct this research with a larger sample to confirm this result in the Turkish population.

Functional polymorphisms of cyclooxygenase-2 gene and risk for hepatocellular carcinoma.

Cyclooxygenase-2 (COX-2) influences carcinogenesis through immune response suppression, apoptosis inhibition, regulation of angiogenesis and tumor cell invasion, and metastasis. It is now well established that COX-2 is overexpressed in many premalignant, malignant, and metastatic cancers, including hepatocellular carcinoma (HCC). DNA sequence variations in the COX-2 gene may lead to altered COX-2 production and/or activity, and so they cause inter-individual differences in the susceptibility to HCC. Functional coding region polymorphisms -1195A>G (rs689466), -765G>C (rs20417), and +8473T>C (rs5275) in the COX-2 gene have recently been shown to be associated with several human cancers but their association with HCC has yet to be investigated. We used hospital-based case-control study to assess the hypothesis that the functional COX-2 variation may affect individual susceptibility to the HCC. COX-2 polymorphisms were investigated in 129 confirmed subjects with HCC and 129 cancer-free control subjects matched on age, gender, smoking, and alcohol consumption using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The distribution of the COX-2 -1195A>G and +8473T>C genotypes were not significantly different between HCC cases and control. However, proportion of the COX-2 -765CC genotype which leads to a 30% reduction of the COX-2 promoter activity was significantly lower in patients with HCC (3.1%) when compared to control subjects (11.6%) (P < 0.05). Logistic regression analyses revealed that the COX-2 -765G>C variant genotype (-765CC) was associated with a significantly decreased risk of HCC compared with the -765GG wild-type homozygotes [P < 0.05, odds ratio (OR) = 0.25, 95% confidence interval (CI) = 0.08-0.79]. Our results suggest for the first time that the -765CC genotype of COX-2 -765G>C polymorphism, causing lower COX-2 gen expression, is a genetic protective factor for HCC. However, because this is the first report concerning the COX-2 -1195A>G, -765G>C, and +8473T>C polymorphisms and the risk of HCC, independent studies are needed to validate our findings.