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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral ischemic attacks, cognitive decline, strokes, and vascular dementia constitute the major manifestations of this disorder. This report details the prenatal detection of a Notch3 mutation in the fetus of a couple where the father had a known mutation in this gene. This is the first report of a prenatal diagnosis of CADASIL, and another example of a serious, highly penetrant, and relentlessly progressive degenerative genetic disorder presenting decades after birth and for which prenatal diagnosis is an option. Copyright © 2005 John Wiley & Sons, Ltd.  相似文献   
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Distributions of anthropogenic radionuclides ((90)Sr, (137)Cs and (239+240)Pu) in seabed sediment in the Japan Sea were collected during the period 1998-2002. Concentration of (90)Sr, (137)Cs and (239+240)Pu in seabed sediment was 0.07-1.6 Bq kg(-1), 0.4-9.1 Bq kg(-1) and 0.002-1.9 Bq kg(-1), respectively. In the northern basin of the sea (Japan Basin), (239+240)Pu/(137)Cs ratios in seabed sediment were higher and their variation was smaller compared to that in the southeastern regions of the sea. The higher (239+240)Pu/(137)Cs ratios throughout the Japan Basin were considered to reflect production of Pu-enriched particles in the surface layer and substantial sinking of particulate materials in this region. In the southern regions of the Japan Sea (<38 degrees N), both inventories and (239+240)Pu/(137)Cs ratios in sediment were larger than those in the other regions. In the southern Japan Sea, observations suggested that supply of particulate radionuclides by the Tsushima Warm Current mainly enhanced accumulation of the radionuclides in this region.  相似文献   
14.
Inouye K  Pan X  Imai N  Ito T  Takei T  Tohyama C  Nohara K 《Chemosphere》2005,60(7):907-913
The immune system is one of the organs most vulnerable to the toxicity of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). Among the various immunotoxic effects of TCDD, the thymus involution and suppression of IgM antibody production are well known sensitive reactions of the thymocytes and B cells affected by TCDD. Recently, we reported that TCDD greatly inhibits the production of type-2 helper T (Th2) cell-derived cytokines, especially IL-5, by the splenocytes in mice immunized with ovalbumin (OVA). In the present study, we investigated the dose-dependency of these TCDD immunotoxic effects in OVA-immunized mice to identify the most sensitive target. Mice of two age groups, 6 weeks old and 3 weeks old, were dosed with 0.3, 1.0, or 3.0 microg TCDD/kg and immunized with OVA using alum as an adjuvant. Seven days later, the thymus weight, thymocyte population, antigen-specific IgM in the plasma, and IL-5 production by the splenocytes were examined. Among them, IL-5 production was significantly suppressed by all three doses of TCDD and reduced to about 30% by even a small dose of 0.3 microg TCDD/kg in both age groups. The thymus weight was significantly reduced by 1.0 microg or 3.0 microg TCDD/kg, but IgM production was not affected by up to 3.0 microg/kg of TCDD in both age groups. Taken together, the Th2 cell-derived IL-5 production was the most sensitive endpoint detecting TCDD toxicity among those examined. Our results also suggest that effector T cells are targets more vulnerable to TCDD toxicity than thymocytes or antibody-producing B cells in the OVA-immunized mice.  相似文献   
15.
The association of the direct-acting mutagenicity of soluble organic fraction of airborne particles toward Salmonella typhimurium YG1024 strain with the direct emission was investigated at a roadside and at a residential area in Osaka, Japan. The direct-acting mutagenicity was evaluated as mutagenic activity per unit volume of ambient air (rev m−3) and/or that per airborne particulate weight collected on a filter (rev mg−1). The annual or diurnal changes of the mutagenicity of airborne particles at the residential site showed similar patterns to those of some gaseous pollutants such as NO2 and SO2, which were emitted from combustion processes. This result indicates that the mutagenicity is mainly attributable to the primary emissions. From the analysis of the relationship between the wind sector and the mutagenic intensity, rev m−3 and rev mg−1 values were strongly affected by the emissions from the fixed sources and from the mobile sources, respectively. The rev m−3 value and concentration of 1-nitropyrene (1-NP) in unit per m3 at the roadside were a factor of 2.6 and 2.8 higher than those at the residential site, respectively, but the rev mg−1 value and concentration of 1-NP in unit per mg at the roadside were substantially comparable to those at the residential area. These observations suggest that the characteristics of the airborne particles can be attributed to the automotive emissions even at the suburban area.  相似文献   
16.
This study investigated the level of norovirus contamination in oysters collected at a lagoon receiving urban drainage from Hue City for 17 months (August 2015–December 2016). We also investigated the genetic diversity of norovirus GI and GII in oyster and wastewater samples by using pyrosequencing to evaluate the effect of urban drainage on norovirus contamination of oysters. A total of 34 oyster samples were collected at two sampling sites (stations A and B) in a lagoon. Norovirus GI was more frequently detected than GII (positive rate 79 vs. 41%). Maximum concentrations of GI and GII were 2.4 × 105 and 2.3 × 104 copies/g, respectively. Co-contamination with GI and GII was observed in 35% of samples. Norovirus GII concentration was higher at station A in the flood season than in the dry season (P = 0.04, Wilcoxon signed-rank test). Six genotypes (GI.2, GI.3, GI.5, GII.2, GII.3, and GII.4) were identified in both wastewater and oyster samples, and genetically similar or identical sequences were obtained from the two types of samples. These observations suggest that urban drainage and seasonal flooding contribute to norovirus contamination of oysters in the study area.  相似文献   
17.
腐植酸氯化过程中氯仿生成的基础研究   总被引:6,自引:1,他引:5  
为了研究用氯消毒饮用水过程中产生氯仿等致癌性副产物,进行了采用低分子量腐植酸与次氯酸钠反应生成氯仿的实验,结果表明,在次氯钠浓度,pH和温度一定的条件,氯仿产量随腐植酸浓度的增大而增加,pH在7.3-9内,氯仿生成速度最快,pH大于9时,氯仿生成速率随pH的升高而下降,氯仿生成量与温度呈正相关关系,腐植酸氯化成氯仿的反应活化能国51.8KJ,因此设法降低原水中腐植酸含量量降低氯仿含量的有效方法。  相似文献   
18.
Lack of information from vehicle-to-child pedestrian impacts provides considerable challenges when developing vehicle countermeasures for the pediatric population. Crash reconstructions of real-world incidents provide useful information about the vehicle damage and injury outcome but do not permit definitive and quantitative measures of the impact severity given the high level of uncertainty in the initial conditions of the pedestrian and the vehicle prior the impact. This paper develops an advanced methodology for reconstructing child pedestrian–vehicle impacts that combines the crash data with multi-body simulations and optimization techniques for identifying the pedestrian posture and vehicle speed prior to impact. For the child pedestrian posture, a continuous sequence of the running gait was developed based on the literature data and simulations. Using vehicle damage information from an actual child pedestrian crash, an objective function was developed that minimized the difference between vehicle and pedestrian contact points for the simulated child postures, pedestrian, and vehicle speeds. Simulated annealing and genetic optimization algorithms were used to identify sets of potential solutions for the pedestrian and vehicle initial conditions. Local minimums were observed for several response surfaces of the objective function which shows the non-convex nature of the crash reconstruction optimization problem with the chosen objective function. Based on the results of the real-world reconstruction, this study indicates that numerical simulations coupled with heuristic optimization algorithms can be used to reconstruct child pedestrian and vehicle pre-impact conditions.  相似文献   
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The conversion rates of SO2 to SO2-4 and NO2 to HNO3+NO3- are estimated from the field-data obtained in Beijing in summer, 1988. The results show that the conversion rate of NO2 is about four times as much as that of SO2; The conversion rates have a diurnal variation in a day. On the average, the rate of SO2 is estimated to be 4.7% h-1 during the daytime and 3.4% h-1 during the nighttime. Similarly, the rate of NO2 is estimated to be 17.2% h-1 and 12% h-1 respectively.  相似文献   
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