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Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
2.

This study analyses whether hedging activities of oil and gas firms have a significant effect on the performance of the companies. The performance of companies is proxied by Tobin’s Q and panel regression models are built to estimate the coefficients for firm value and derivative use. The speculative use of derivatives is eliminated in models by the regulations under IFRS and GAAP. The results give critical information regarding asymmetric information and signalling effect. Since the coefficient of derivatives use is negative, it shows the critical meaning of disclosures on the financial healthiness. If companies are publishing high level of hedging activities, it might be a warning for investors to avoid investing at that company. This study also seeks for explanation behind firms’ hedging decisions. To our knowledge, it is among the first studies with a wide range of region and data.

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3.
The aim of this study is the treatment of Basic Red 29 (BR29) dye solution using hybrid iron-aluminum electrodes by electrocoagulation and electro-Fenton methods. The effect of current density, initial pH, supporting electrolyte, H2O2, and initial dye concentration on dye removal efficiency was investigated, and the best experimental conditions were obtained. Time-coarse variation of UV-Vis spectra and toxicity and chemical oxygen demand (COD) removal were also examined at the best experimental conditions. Both systems were found very successful for the removal of BR29 dye. The removal efficiency of >95 % for BR29 dye solution was reached easily in a short time. At the best experimental conditions, for the initial BR29 concentration of 100 mg/L, >95 % BR29 dye and 71.43 % COD removal were obtained after 20 and 40 min of electrolysis, respectively. Additionally, toxicity results for electro-Fenton treatment of 100 mg/L BR29 were also very promising. According to the results obtained, although electro-Fenton is more effective, both systems can be used successfully to treat textile wastewater including dyes.  相似文献   
4.
Environmental conditions affect human life in various ways. One of the domains of environmental conditions is buildings, and amongst them, a major and important group is the historical buildings. To keep this inheritance alive, one needs to determine the effects of environmental conditions. In this work, effects of lichens and NOx on 7 historical buildings in Erzurum were investigated. Historical buildings are readily available for lichen growth, which takes a long time, and this growth was investigated as a sample of environmental effect that occurs through long periods of time. NOx, main source of which is traffic in Erzurum, were considered as the environmental effect of daily life.  相似文献   
5.
Landfill bottom liners are generally constructed with natural clay soils due to their high strength and low hydraulic conductivity characteristics. However, in recent years it is increasingly difficult to find locally available clay soils that satisfy the required engineering properties. Fine grained soils such as sepiolite and zeolite may be used as alternative materials in the constructions of landfill bottom liners. A study was conducted to investigate the feasibility of using natural clay rich in kaolinite, sepiolite, zeolite, and their mixtures as a bottom liner material. Unconfined compression tests, swell tests, hydraulic conductivity tests, batch and column adsorption tests were performed on each type of soil and sepiolite–zeolite mixtures. The results of the current study indicate that sepiolite is the dominant material that affects both the geomechanical and geoenvironmental properties of these alternative liners. An increase in sepiolite content in the sepiolite–zeolite mixtures increased the strength, swelling potential and metal adsorption capacities of the soil mixtures. Moreover, hydraulic conductivity of the mixtures decreased significantly with the addition of sepiolite. The utilization of sepiolite–zeolite materials as a bottom liner material allowed for thinner liners with some reduction in construction costs compared to use of a kaolinite-rich clay.  相似文献   
6.
Cicek A  Koparal AS 《Chemosphere》2004,57(8):1031-1036
In this study, the quantities of sulfur and heavy metals, resulting from the Tuncbilek Thermal Power Plant (TPP) in Turkey, have been assessed in tree leaves and soil samples within a 10 km radius of the plant. Leaves of Salix alba L., Populus tremula L., Robinia pseudoacacia L., Quercus infectoria L., Pinus nigra Arn. ssp. pallasiana (Lamb) Holmboe. trees have been used with the aim of determining how far the gas and particles emitted from the TPP are carried, and for assessment of environmental impact. The results obtained from locations chosen at various distances to the TPP, indicate that the contaminating agents are very dense and effective; particularly in the prevailing wind direction and within 10 km of the plant. They gradually lose their density and effect beyond this distance. The sulfur and heavy metal analyses made in soils taken from these locations indicate a similarity with the data obtained from the leaves.  相似文献   
7.
This paper focuses mainly on the coastline change assessment on water reservoirs located in the Konya Basin Area, Turkey. The Konya Closed Basin exists at the Central Anatolia Region and covers a region of 50,000 km2 area corresponding to the 7% cumulative area of Turkey in which three million people live, 45% in rural areas and 55% in urban areas. The basin is surrounded with the city centers of Konya, Aksaray, Karaman, Isparta, Ni?de, Ankara, Nev?ehir, and Antalya cities. In this study, these changes were examined using Landsat TM and ETM+ 1987–2006 and 1990–2000. In the image processing step, image and vectorization of the satellite images were carried out to monitor coastline changes over the lakes located in the Konya Closed Basin Area. At the end of the study, significant coastline movements were detected for a 19-year period due to drought effects, agricultural watering, and planning mistakes experienced in the basin.  相似文献   
8.
Electrocoagulation with aluminum electrodes was used to treat the vegetable oil refinery wastewater (VORW) in a batch reactor. The effects of operating parameters such as pH, current density, PAC (poly aluminum chloride) dosage and Na(2)SO(4) dosage on the removal of organics and COD removal efficiency have been investigated. It has been shown that the removal efficiency of COD increased with the increasing applied current density and increasing PAC and Na(2)SO(4) dosage and the most effective removal capacity was achieved at the pH 7. The results indicate that electrocoagulation is very efficient and able to achieve 98.9% COD removal in 90 min at 35 mAcm(-2) with a specific electrical energy consumption of 42 kWh(kgCOD(removed))(-1). The effluent was very clear and its quality exceeded the direct discharge standard.  相似文献   
9.
Lake Uluabat, known for its scenic beauty and richness of aquatic life, is situated in Marmara Region, Bursa (Turkey). On account of its importance, lake Uluabat was designated by the Ministry of Environment as a Ramsar site in 1998. Physical, chemical and microbiological parameters of the aquatic ecosystem in lake Uluabat were measured monthly at five stations from February 2003 to January 2004. The results showed that lake Uluabat can be classified as Class I with respect to temperature (16.36 +/- 7.47 degrees C), nitrate nitrogen (0.63 +/- 0.50 mgl(-1)), sodium (9.64 +/- 2.78 mgl(-1)), chloride (20.45 +/- 4.59 mgl(-1)), sulphate (54.80 +/- 29.97 mgl(-1)); as Class II with respect to dissolved oxygen (7.62 +/- 1.99 mgl(-1)), ammonium nitrogen (0.52 +/- 0.49 mgl(-1)), chemical oxygen demand (35.74 +/- 10.66 mgl(-1)), total coliform (2027 MPN100 ml(-1) (average value)); as Class III with respect to pH (8.69 +/- 0.16) and as Class IV with respect to total nitrogen (84.94 +/- 66.13 mgl(-1)), total phosphorus (1.11 +/- 3.01 mgl(-1)), biochemical oxygen demand (21.21 +/- 6.60 mgl(-1)) according to TWPCR (Turkey Water Pollution Control Regulation). The nutrient content of lake waterapparently indicated that lake had an eutrophic characteristic. Phosphorus was determined as a limiting factor in lake. The measured hardness values (140.94 +/- 14.61 CaCO3 mgl(-1)) indicated that lake water was classified as soft/hard during the study period. Eutrophic characteristic of the lake and contaminant accumulation in water will probably affect the future use of the lake. Therefore, pollution parameters must be regularly monitored and evaluated according to aquatic living and local regulations.  相似文献   
10.
In industrialized regions like Bozüyük, generally density of settlement and traffic is also observed. As a result of this density, the metal pollution that results from either industrial activities or traffic shall affect the air quality negatively. In determining this effect and sources thereof inspection of the depositing of heavy metals, which cause pollution, on the tree leaves and in the soil, and making comments by comparing with the values in the same kinds of plants and soil in the clean region has been aimed. For this purpose, zinc, copper, chromium, cadmium, iron, nickel, lead analysis have been carried out in order to determine the accumulation of pollution in plants and soils resulting from heavy industry and vehicles around Bozüyük (Turkey) region which is close to highway. These analyses have been carried out on washed and unwashed tree leave samples and surface soil from ten locations. Data used in the results were the average values of a series of data obtained from the experimental studies.  相似文献   
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