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Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis. Copyright © 2009 John Wiley & Sons, Ltd.  相似文献   
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BACKGROUND: In 1996, the Committee on the Assessment of Wartime Exposure to Herbicides in Vietnam of the National Academy of Sciences' Institute of Medicine (IOM) issued a report on an exposure model for use in epidemiological studies of Vietnam veterans. This exposure model would consider troop locations based on military records; aerial spray mission data; estimated ground spraying activity; estimated exposure opportunity factors; military indications for herbicide use; and considerations of the composition and environmental fate of herbicides, including changes in the TCDD content of the herbicides over time, the persistence of TCDD and herbicides in the environment, and the degree of likely penetration of the herbicides into the ground. When the final report of the IOM Committee was released in October 2003, several components of the exposure model envisioned by the Committee were not addressed. These components included the environmental fate of the herbicides, including changes in the TCDD content over time, the persistence of TCDD and herbicides in the environment, and the degree of likely penetration of herbicides into the ground. This paper is intended to help investigators understand better the fate and transport of herbicides and TCDD from spray missions, particularly in performing epidemiological studies. METHODS: This paper reviews the published scientific literature related to the environmental fate of Agent Orange and the contaminant, 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), and discusses how this affected the potential exposure to TCDD of ground troops in Vietnam. Specifically, the mechanisms of dissipation and degradation as they relate to environmental distribution and bioavailability are addressed. RESULTS: The evaluation of the spray systems used to disseminate herbicides in Vietnam showed that they were capable of highly precise applications both in terms of concentrations sprayed and area treated. Research on tropical forest canopies with leaf area indices (a measure of foliage density) from 2 to 5 indicated that the amount of herbicide and associated TCDD reaching the forest floor would have been between 1 and 6% of the total aerial spray. Studies of the properties of plant surface waxes of the cuticle layer suggested that Agent Orange, including the TCDD, would have dried (i.e., be absorbed into the wax layer of the plant cuticle) upon spraying within minutes and could not be physically dislodged. Studies of Agent Orange and the associated TCDD on both leaf and soil surface have demonstrated that photolysis by sunlight would have rapidly decreased the concentration of TCDD, and this process continued in shade. Studies of 'dislodgeable foliar residues' (DFR, the fraction of a substance that is available for cutaneous uptake from the plant leaves) showed that only 8% of the DFR was present 1 hr after application. This dropped to 1% of the total 24 hrs after application. Studies with human volunteers confirmed that after 2 hrs of saturated contact with bare skin, only 0.15-0.46% of 2,4,5-T, one of the phenoxy acetic acid compounds that was an active ingredient of Agent Orange, entered the body and was eliminated in the urine. CONCLUSIONS: The prospect of exposure to TCDD from Agent Orange in ground troops in Vietnam seems unlikely in light of the environmental dissipation of TCDD, little bioavailability, and the properties of the herbicides and circumstances of application that occurred. Photochemical degradation of TCDD and limited bioavailability of any residual TCDD present in soil or on vegetation suggest that dioxin concentrations in ground troops who served in Vietnam would have been small and indistinguishable from background levels even if they had been in recently treated areas. Laboratory and field data reported in the literature provide compelling evidence on the fate and dislodgeability of herbicide and TCDD in the environment. This evidence of the environmental fate and poor bioavailability of TCDD from Agent Orange is consistent with the observation of little or no exposure in the veterans who served in Vietnam. Appreciable accumulation of TCDD in veterans would have required repeated long-term direct skin contact of the type experienced by United States (US) Air Force RANCH HAND and US Army Chemical Corps personnel who handled or otherwise had direct contact with liquid herbicide, not from incidental exposure under field conditions where Agent Orange had been sprayed.  相似文献   
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地下水水化学组分的异常值识别是获取水化学背景值的重要的一环,以往提出的基于水化学各组分内在联系的计算背景值的水化学图法及Durov图法在柳江盆地的研究中均取得了良好的效果,但是水化学图法的计算步骤繁多,过程复杂,对采样精度要求严格.因此,为简化计算过程,快速识别异常,本文借鉴英国地调局识别异常的方法,以沙颍河流域为研究区,针对该区浅层地下水水质资料,利用信息筛选法替代水化学图法,对研究区内水化学主要组分进行异常识别,并将不同识别方法的识别效果进行对比分析.结果表明,尽管存在两种方法单独识别出的异常数据较多,但是水化学图法+拉依达准则和信息筛选法+拉依达准则对地下水主要组分的异常识别效果均较好,异常识别后的剩余数据的阈值范围较为一致,信息筛选法能够在大尺度区域内精度较低条件下,有效地替代水化学图法快速识别出异常值.  相似文献   
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From 1996 to 1997, the US Environmental Protection Agency (EPA) and the Texas Natural Resource Conservation Commission (TNRCC) conducted an air quality study known as the Lower Rio Grande Valley Transboundary Air Pollution Project (TAPP). The study was a US–Mexico Border XXI program project and was developed in response to local community requests on a need for more air quality measurements and concerns about the health impact of local air pollutants; this included concerns about emissions from border-dependent industries in Mexico, known as maquiladoras. The TAPP was a follow-up study to environmental monitoring done by EPA in this area in 1993 and incorporated scientific and community participation in development, review of results, and public presentation of findings. In spite of this, critical remarks were leveled by community activists against the study's preliminary “good news” findings regarding local air quality and the influence of transboundary air pollution. To resolve these criticisms and to refine the findings to address these concerns, analyses included comparisons of daily and near real-time measurements to TNRCC effects screening levels and data from other studies along with wind sector analyses. Reassessment of the data suggested that although regional source emissions occurred and outliers of elevated pollutant levels were found, movement of air pollution across the border did not appear to cause noticeable deterioration of air quality. In spite of limitations stated to the community, the TAPP was presented as establishing a benchmark to assess current and future transboundary air quality in the Valley. The study has application in Border XXI Program or other air quality studies where transboundary transport is a concern since it involved interagency coordination, public involvement, and communication of scientifically sound results for local environmental protection efforts.  相似文献   
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ABSTRACT: The Attenuation Factor (AF), a screening model, was used to evaluate the relative degree of vulnerability of groundwater to pesticide contamination in Louisa County, Virginia. For evaluating the contamination potential of pesticides, three scenarios of pesticide leaching represented by high, moderate, and low cases of degradation and sorption in the soil were considered. Data layers were overlaid within a Geographic Information System (GIS) for spatial computation of AF for the actual and 2m groundwater depths. This spatial database was divided into five contamination potential categories namely high, medium, low, very low, and unlikely, based on the numerical values of the AF for each cell (119 ha). The results for the three most mobile pesticides are presented in this paper. The performance of the AF model was evaluated by comparing its predicted results with the field data from an experimental watershed. The AF model was able to identify most of the frequently detected pesticides in the watershed. A sensitivity analysis was also performed. The results of this study provide information about the potential groundwater threat by pesticides to the citizens ahd decision-makers in the County and can be used for formulating an appropriate land use management plan to protect the groundwater quality.  相似文献   
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