Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis

Dihydropteridine reductase (DHPR) is an enzyme involved in the recycling of tetrahydrobiopterin (BH₄), which is an obligate co-factor of the aromatic amino acid hydroxylases. DHPR deficiency is a rare, autosomal recessive disorder caused by mutations in the QDPR gene. DHPR-deficient patients are diagnosed by a lack of response to a low phenylalanine diet and by severe neurological symptoms. Final diagnosis is made by measurements of neurotransmitters and pterin metabolites in cerebrospinal fluid (CSF) and urine, in addition to DHPR enzyme activity, which can be assessed in whole red blood cells. Treatment of DHPR deficiency can be difficult and the outcome is not always satisfying, even if all treatment strategies are followed. Therefore prenatal diagnosis is of great importance in affected families. Prenatal diagnosis is possible by measuring DHPR activity in different cell types but this is time consuming. More than 25 different mutations have to date been identified in the QDPR gene and direct identification of a mutation in a fetus would be easy and rapid. We have developed a method based on denaturing gradient gel electrophoresis (DGGE) for the analysis of the QDPR gene. The method is useful for rapid and simultaneous scanning of all exons and flanking intronic sequences of the QDPR gene. We describe the first prenatal diagnosis conducted using this method. Copyright © 2001 John Wiley & Sons, Ltd.     

Real-Time PCR Detection of Norovirus in Mussels Collected from the Bosphorus in Istanbul,Turkey

Norovirus (NoV) is recognised as one of the most common causes of foodborne infections, and shellfish are a well-documented source of this virus. The presence of NoV in shellfish has not previously been investigated in Turkey, and hence the aim of this study was to determine the frequency of human NoV genogroups I and II in mussels collected from the Bosphorus, Istanbul, Turkey. A total of 320 mussels representing 110 samples originating along the Bosphorus coast were collected from fish distributors. RNA was extracted using the RNeasy Mini Kit and real-time RT–PCR performed using primers specific for NoV genogroup I and II. Amongst the 110 samples, 5 (4.5%) were found to be positive for NoV genogroup II by SYBR Green assay; no genogroup I was detected. A positive signal was obtained by SYBR Green for NoV Genogroup II in mussels collected in October, November and December 2008, and February and July 2009. Only four out of five SYBR Green positive samples could be confirmed by the use of a NoV GII probe-based real-time RT–PCR. The average count and SD of Enterobactericaeae, E. coli and sulphide reductase anaerobic bacteria in PCR positive mussels were 3.56 log ± 0.96 log, 2.32 log ± 0.77 log and 1.70 log ± 0.56 log, respectively. This study shows that NoV Genogroup II is present in mussels collected from the Bosphorus, Istanbul, and may constitute a risk to human health.     

Enhancing employees' duty orientation and moral potency: Dual mechanisms linking ethical psychological climate to ethically focused proactive behaviors

Based on social cognitive theory (SCT), we develop and test a model that links ethical psychological climate to ethically focused proactive behavior (i.e., ethical voice and ethical taking charge) via two distinct mechanisms (i.e., duty orientation and moral potency). Results from multi-wave field studies conducted in the United States, Turkey, France, Vietnam, and India demonstrate that an ethical psychological climate indirectly influences employees' ethical voice and ethical taking charge behaviors through the dual mechanisms of duty orientation and moral potency. Additionally, we find that individuals' moral attentiveness strengthened these mediating processes. Together, these findings suggest that ethical psychological climate is an important antecedent of ethically focused proactive behavior by stimulating individuals' sense of duty and enhancing their moral potency, particularly when employees are already highly attuned to moral issues.     

Health risk assessment of soil trace elements using the Sequential Gaussian Simulation approach

Environmental Science and Pollution Research - In this study, the performance of the Sequential Gaussian Simulation (SGS) approach was studied with the aim of accurately determining local health...     

Evaluation of ecological risk,source, and spatial distribution of some heavy metals in marine sediments in the Middle and Eastern Black Sea region,Turkey

Environmental Science and Pollution Research - In the present study, the concentration levels of heavy metals such as Mn, Fe, Ni, Cu, Zn, Cr, and Pb in sediment samples collected from 16 sampling...     

甲醛对人支气管上皮细胞的毒性及N-乙酰半胱氨酸的保护作用

为研究甲醛对人支气管上皮细胞存活率的影响及N-乙酰半胱氨酸(N-acetylcysteine,NAC)的保护效应,以0、50、100、150、200、300和400μmol·L-1甲醛处理人支气管上皮BEAS-2B细胞24 h,200μmol·L-1甲醛处理BEAS-2B细胞0、6、24和48 h。以不同浓度(0、0.1、1和10 mmol·L-1)NAC预处理1 h或不同时间(预先3、1 h加入NAC、同时加入甲醛和NAC及加入200μmol·L-1甲醛1、3 h后)加入1 mmol·L-1NAC,再以200μmol·L-1甲醛处理BEAS-2B细胞(甲醛处理时间均为24 h),CCK-8(cell counting kit-8)实验和倒置相差显微镜观察甲醛对BEAS-2B细胞存活率的影响及NAC的保护作用。结果显示,甲醛以剂量依赖性方式引起BEAS-2B细胞死亡。200μmol·L-1甲醛处理BEAS-2B细胞6 h,细胞存活率下降,与对照组比较差异具有统计学意义(p0.05)。随甲醛处理时间的延长细胞存活率明显下降,存在时间效应关系。不同浓度和不同时间NAC处理可拮抗甲醛引起的细胞存活率下降,存在剂量效应关系,NAC不同时间处理组间细胞存活率未见明显差异。研究表明,甲醛以剂量和时间依赖性方式引起支气管上皮细胞存活率下降,NAC以剂量依赖性方式对甲醛引起的损伤具有保护作用。     

Element levels in cultured and wild sea bass (Dicentrarchus labrax) and gilthead sea bream (Sparus aurata) from the Adriatic Sea and potential risk assessment

In this study, the role of aquaculture activity as a source of selected metals was analyzed. Significant differences in element content between cultured (Dicentrarchus labrax, Sparus aurata) and wild fishes as well as between fish muscle and their feed were detected. Higher concentrations of trace elements (i.e., As, Cu, Hg, Se) in wild fish tissues in comparison with cultured ones indicate additional sources of metals beside fish feed as natural and/or anthropogenic sources. Generally, mean Cd, Cu, Pb, Se, and Zn concentrations in cultured (0.016, 1.79, 0.14, 0.87, and 34.32 μg/g, respectively) and wild (0.011, 1.97, 0.10, 1.78, and 23,54 μg/g, respectively) fish samples were below the permissible levels, while mean As (2.57 μg/g in cultured, 4.77 μg/g in wild) and Cr (5.25 μg/g in cultured, 2.92 μg/g in wild) values exceeded those limits. Hg values were lower in cultured (0.17 μg/g) and higher in wild (1.04 μg/g) fish specimens. The highest elemental concentrations were observed in almost all fish samples from Kor?ula sampling site. The smallest cultured sea basses showed As (4.01 μg/g), Cr (49.10 μg/g), Pb (0.65 μg/g), and Zn (136 μg/g) concentrations above the recommended limits; however, values decreased as fish size increased. Therefore, the majority of metal concentrations in commercial fishes showed no problems for human consumption. Also calculated Se:Hg molar ratios (all >1) and selenium health benefit values (Se-HBVs) (all positive) showed that consumption of all observed fishes in human nutrition is not risk.     

Experimental investigation of cross-shore sandbar volumes

Sandbars are critical to the cross-shore movement of sediment. Prediction of cross-shore sandbar volumes requires knowledge about the functional relationship of sediment transport rate conditions with waves, currents, base slope, sediment property and water depth. In this study, experiments on cross- shore sediment transport were carried out in a laboratory wave channel for initial base slopes of 1/8, 1/10 and 1/15. Using regular waves with different deep-water wave steepness generated by a pedal-type wave generator, bar volumes caused by cross-shore sediment transport are investigated for beach materials with the medium diameter of d₅₀?=?0.25, 0.32, 0.45, 0.62 and 0.80 mm. A non-dimensional equation for sandbar volume was obtained by using linear and non-linear regression methods through the experimental data and was compared with previously developed equations in the literature. The results have shown that the experimental data fitted well to the proposed equation with respect to the previously developed equations.     

Genotoxic risk assessment in professionals working hairdressers area using buccal micronucleus assay,in Aydın City,Turkey

The aim of this study was to determine the genotoxic risk of professional hairdressers in Ayd?n City, Turkey, through investigating the micronucleus frequencies in buccal mucosa epithelial cells. All the hairdresser working hairdresser area were included in the genotoxic risk group (GRG = 20) in Ayd?n City, Turkey. The control group (CG = 20) comprised healthy individuals matching the gender and age of the GRG. Buccal mucosal scraping from all the 40 subjects of GRG (10 women and 10 men) and CG (10 women and 10 men) was stained with Giemsa stain and observed under light microscope (×40) for the presence of micronuclei (M 10 N) and karyolysis, pyknosis, condensed chromatin, karyorrhexis, nuclear bud, and binucleates in the exfoliated epithelial cells. There are significance between the incidence of MN in GRG and CG (P = <0.005) using one-way ANOVA, Kolmogorov-Smirnov Z test, and Spearman Rank Correlation Tests.     

The effect of pyrolysis atmosphere on bio-oil yields and structure

A food industry waste, almond shell, was pyrolyzed under three different environment static, nitrogen, and steam to produce bio-oil and its derivatives. The oil yield obtained at pyrolysis temperature of 600°C was 24.23% in a static atmosphere, whereas it increased to 27.25% and 33.05% in nitrogen and steam atmospheres, respectively. The bio-oil obtained under steam atmosphere is very efficient due to the production of high liquid and gas yields. Moreover, co-feeding steam during the pyrolysis altered the bio-oil structure by increasing the aliphatics and reducing the asphaltenes. Moreover, steam treatment also increases H/C and heating value of bio-oils. According to the obtained results, steam pyrolysis is an alternative option for future applications in refineries.