First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography

Osteogenesis imperfecta type II was diagnosed prenatally by analysis of DNA obtained from chorionic villus sampling (CVS) performed at 12 weeks of gestation in a woman who previously had had an affected child. The father had been shown to be mosaic for a mutation in the gene (COL1A2) which encodes the α2(I) chain of type I collagen. An affected fetus was predicted by detection of the mutation in amplified chorionic villus genomic DNA. Ultrasound examination at 13 weeks 4 days demonstrated femoral deformity and virtual absence of calvarial mineralization. In pregnancies at risk for osteogenesis imperfecta type II, sonographic evidence of skeletal abnormalities may be evident by 13 weeks' gestation.     

长江三角洲地区大气O3和PM10的区域污染特征模拟

以TRACE-P污染源资料及上海市地方排放清单为基础,采用Models-3/CMAQ环境空气质量模型和中尺度气象模式MM5,模拟研究了2001-01和2001-07长三角近地面二次污染物O3及PM 10的浓度分布及输送状况,并以上海市国控点2001年冬、夏季各10 d的小时监测数据对模型进行了验证.验证结果显示,Models-3/CMAQ对O3和PM10的模拟结果与监测值的相关系数分别为0.77和0.52;一致性指数分别达到0.81和0.99.模型对O3小时最高浓度的估算偏低27%,标准偏差为-3.1%;对PM10小时平均浓度的估算偏低10%,标准偏差为46%.模型已具备再现和模拟长三角大气污染输送过程的能力,且误差落在可接受的范围之内.模拟结果显示,2001-07长三角区域16个主要城市中,有14个城市O3小时最大浓度超过国家二级标准,高浓度O3可覆盖苏南和浙北广大区域.2001-01泰州、扬州、南京、镇江、常州等城市受本地排放源和北部大气污染输送的影响显著,大气PM10日均浓度超过PM10国家二级标准.长三角地区环境空气质量与污染类型受大气污染传输与化学转化的影响十分明显.夏季太阳辐射较强时,南部城市排放的污染物常以二次污染物的形式影响下风向城市;太阳辐射较弱的情况下,则以一次污染物输送为主的形式影响周边地区.冬季长三角区域颗粒物污染总体水平较高,这与我国北方地区排放的颗粒物在西北风作用下向长三角输送造成的影响密切相关.长三角地区的大气污染已逐渐从局地转为区域问题.     

Building phenological models from presence/absence data for a butterfly fauna.

Species phenology is increasingly being used to explore the effects of climate change and other environmental stressors. Long-term monitoring data sets are essential for understanding both patterns manifest by individual species and more complex patterns evident at the community level. This study used records of 78 butterfly species observed on 626 days across 27 years at a site in northern California, USA, to build quadratic logistic regression models of the observation probability of each species for each day of the year. Daily species probabilities were summed to develop a potential aggregate species richness (PASR) model, indicating expected daily species richness. Daily positive and negative contributions to PASR were calculated, which can be used to target optimum sampling time frames. Residuals to PASR indicate a rate of decline of 0.12 species per year over the course of the study. When PASR was calculated for wet and dry years, wet years were found to delay group phenology by up to 17 days and reduce the maximum annual expected species from 32.36 to 30. Three tests to determine how well the PASR model reflected the butterfly fauna dynamics were all positive: We correlated probabilities developed with species presence/absence data to observed abundance by species, tested species' predicted phenological patterns against known biological characteristics, and compared the PASR curve to a spline-fitted curve calculated from the original species richness observations. Modeling individual species' flight windows was possible from presence/absence data, an approach that could be used on other similar records for butterfly communities with seasonal phenologies, and for common species with far fewer dates than used here. It also provided a method to assess sample frequency guidelines for other butterfly monitoring programs.     

The use of Monte Carlo simulation techniques to predict population blood lead levels

Effective management of the risks posed by lead depends on an understanding of the relationship between exposure (the presence and accessibility of lead in the environment) and dose (blood lead levels). Our paper begins by outlining the type of information most valuable to a decision maker addressing the lead problem. A useful exposure-dose characterisation must address multiple contamination sources simultaneously, provide estimates of the number of people with blood lead levels exceeding critical thresholds, and assess the influence of modifying factors (e.g. the soil and dust ingestion rate) on population blood lead variability. We describe a pilot effort to develop an urban setting lead exposure-dose model, and use this model to compare three approaches for generating model input quantities: (1) worst-case estimates, (2) central estimates and (3) Monte Carlo simulation. Using the criteria outlined above, we find that the Monte Carlo technique provides the most useful model output. We describe the population blood lead level distribution generated by the model, as well as the relative influence of environmental and behavioural factors on the variability of the population distribution. Finally, we assess the impact of parameter uncertainty on the model output, and contend this type of information can help identify areas in which further empirical study would be most valuable.     

Evaluating the causal basis of ecological success within the scleractinia: an integral projection model approach

Many tropical corals have declined in abundance in the last few decades, and evaluating the causal basis of these losses is critical to understanding how coral reefs will change in response to ongoing environmental challenges. Motivated by the likelihood that marine environments will become increasingly unfavorable for coral growth as they warm and become more acidic (i.e., ocean acidification), it is reasonable to evaluate whether specific phenotypic traits of the coral holobiont are associated with ecological success (or failure) under varying environmental conditions including those that are adverse to survival. Initially, we asked whether it was possible to identify corals that are resistant or sensitive to such conditions by compiling quantitative measures of their phenotypic traits determined through empirical studies, but we found only weak phenotypic discrimination between ecological winners and losers, or among taxa. To reconcile this outcome with ecological evidence demonstrating that coral taxa are functionally unequal, we looked beyond the notion that phenotypic homogeneity arose through limitations of empirical data. Instead, we examined the validity of contemporary means of categorizing corals based on ecological success. As an alternative means to distinguish among functional groups of corals, we present a demographic approach using integral projection models (IPMs) that link organismal performance to demographic outcomes, such as the rates of population growth and responses to environmental stress. We describe how IPMs can be applied to corals so that future research can evaluate within a quantitative framework the extent to which changes in physiological performance influence the demographic underpinnings of ecological performance.     

Assessment of air quality benefits from national air pollution control policies in China. Part I: Background,emission scenarios and evaluation of meteorological predictions

Under the 11th Five Year Plan (FYP, 2006–2010) for national environmental protection by the Chinese government, the overarching goal for sulfur dioxide (SO₂) controls is to achieve a total national emissions level of SO₂ in 2010 10% lower than the level in 2005. A similar nitrogen oxides (NO_x) emissions control plan is currently under development and could be enforced during the 12th FYP (2011–2015). In this study, the U.S. Environmental Protection Agency (U.S.EPA)’s Community Multi-Scale Air Quality (Models-3/CMAQ) modeling system was applied to assess the air quality improvement that would result from the targeted SO₂ and NO_x emission controls in China. Four emission scenarios — the base year 2005, the 2010 Business-As-Usual (BAU) scenario, the 2010 SO₂ control scenario, and the 2010 NO_x control scenario—were constructed and simulated to assess the air quality change from the national control plan. The Fifth-Generation NCAR/Penn State Mesoscale Model (MM5) was applied to generate the meteorological fields for the CMAQ simulations. In this Part I paper, the model performance for the simulated meteorology was evaluated against observations for the base case in terms of temperature, wind speed, wind direction, and precipitation. It is shown that MM5 model gives an overall good performance for these meteorological variables. The generated meteorological fields are acceptable for using in the CMAQ modeling.     

Visitor Assessment of the Mandatory Alternative Transportation System at Zion National Park

Transportation infrastructure in national parks has historically been designed for the automobile. With more vehicles in the parks, visitors found themselves in circumstances more reminiscent of a city than a park. Traffic jams, overcrowding, illegal parking, horn honking, and idling vehicles became common, creating stress and contributing to air and noise pollution, the very things visitors were hoping to get away from. Park managers began searching for alternatives, including shuttle systems. Many national parks have implemented optional shuttle systems, but relatively few have completely closed roads to vehicles, transporting visitors on mandatory shuttles. Zion National Park instituted a mandatory shuttle system in May 2000 to relieve crowding and congestion in the main canyon and to protect natural resources. Taking a longitudinal approach, attributes of the shuttle (e.g., crowding, accessibility, freedom, efficiency, preference, and success) were assessed with experiential park factors (e.g., scenic beauty, naturalness, solitude, tranquility, air quality, and soundscape) in 2000, 2003, and 2010 by surveying shuttle-riding park visitors. While visitors initially reported a few reservations about the shuttle system, by 2003, the majority rated the system successful. Ratings of all shuttle-related variables, except crowding, improved over the decade. Improvements were greatest for freedom, accessibility, and efficiency. Multiple regression found overall shuttle success to be mediated by preference, freedom, accessibility, efficiency, and comfort. Experiential variables assessing park conditions followed a similar pattern, with improved ratings as the decade progressed. Results provide important insights into the visitor experience with mandatory alternative shuttle systems in national parks.