Pilot study for the neonatal screening of fragile X syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23 (9), 2003, 771. Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5′-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree. Copyright © 2002 John Wiley & Sons, Ltd.     

Understanding Trait‐Dependent Community Disassembly: Dung Beetles,Density Functions,and Forest Fragmentation

Abstract: Anthropogenic disturbances such as fragmentation are rapidly altering biodiversity, yet a lack of attention to species traits and abundance patterns has made the results of most studies difficult to generalize. We determined traits of extinction‐prone species and present a novel strategy for classifying species according to their population‐level response to a gradient of disturbance intensity. We examined the effects of forest fragmentation on dung beetle communities in an archipelago of 33 islands recently created by flooding in Venezuela. Species richness, density, and biomass all declined sharply with decreasing island area and increasing island isolation. Species richness was highly nested, indicating that local extinctions occurred nonrandomly. The most sensitive dung beetle species appeared to require at least 85 ha of forest, more than many large vertebrates. Extinction‐prone species were either large‐bodied, forest specialists, or uncommon. These explanatory variables were unrelated, suggesting at least 3 underlying causes of extirpation. Large species showed high wing loading (body mass/wing area) and a distinct flight strategy that may increase their area requirements. Although forest specificity made most species sensitive to fragmentation, a few persistent habitat generalists dispersed across the matrix. Density functions classified species into 4 response groups on the basis of their change in density with decreasing species richness. Sensitive and persistent species both declined with increasing fragmentation intensity, but persistent species occurred on more islands, which may be due to their higher baseline densities. Compensatory species increased in abundance following the initial loss of sensitive species, but rapidly declined with increasing fragmentation. Supertramp species (widespread habitat generalists) may be poor competitors but strong dispersers; their abundance peaked following the decline of the other 3 groups. Nevertheless, even the least sensitive species were extirpated or rare on the smallest and most isolated islands.     

利用卫星资料估算我国西北地区直接辐射

在缺乏直接辐射、云量、日照时数等地面观测资料情况下,如何正确估算太阳直接辐射对太阳能合理开发利用有重要意义。利用NCEP/NCAR再分析资料、EOS-AURA卫星和FY-2C气象卫星反演资料,采用一个改进的宽带辐射传输模型对我国西北5个地面辐射站点2006年和2007年直射日曝辐量进行了估算。模型首先在Bird模型基础上对晴空条件下的太阳直接辐射进行了计算,然后结合FY-2C气象卫星总云量和云类反演数据,引入了一个线性方程,对实际天气状况下的直射日曝辐量进行了计算。结果表明:5个站点模拟的直射日曝辐量与实测值均存在较好一致性,评价效率系数NSE介于0.68~0.8,而对月均直射日曝辐量的模拟结果则显示模型在4-10月的估算精度要高于11-3月结果。     

沸石和活性炭处理氨氮废水的实验研究

文章选用具有较强选择性和吸附性的13X沸石和活性炭作为吸附材料,以人工配置的含氨氮废水模拟实际废水,分别以溶液pH值、吸附时间、初始浓度和投加顺序等作为影响因素,通过实验来系统地考察所选材料对废水中氨氮的去除技术参数。结果表明:所选材料具有较好、较稳定的吸收效果,在其他条件一定的情况下,13X沸石在pH值为中性,吸附时间为40 min时对氨氮的去除率最大,达87.9%。且在相同实验条件下,先投放活性炭再投放沸石去除氨氮的效果较好,比先投放沸石然后投放活性炭的效果高出25%左右。     

不同能量电子辐照下星用瑞侃导线性能退化研究

目的研究卫星上外露导线在空间辐射环境下的耐受能力。方法通过分析GEO轨道下在轨10年航天器外露瑞侃导线的辐照环境,研究低能和高能电子对导线性能的影响,地面模拟试验参数选择能量分别为45 keV和1 MeV,注量率均为8.3×10^10 e/(cm^2·s),总注量均为2×10^16 e/cm^2。考察瑞侃导线力学性能(断裂伸长率、拉伸强度)和电性能(击穿电压)的退化情况,并用XPS和SEM测试分析手段,对其电子辐照损伤机理进行研究。结果在不同能量电子辐照下,瑞侃导线的力学性能均略有下降,没有显著区别,而电学性能严重退化,且低能电子较高能电子对其电学性能影响更为严重,其击穿电压分别下降了100%和50%。结论通过剂量-深度分布计算,45 keV入射电子能量全部沉积在样品表层下数微米的深度范围内,完全被导线外皮吸收,对样品的损伤较大;而1 MeV入射电子能量绝大部分穿透表皮沉积在样品铜芯中,因而其性能退化情况相对低能电子较小。进一步的,通过SEM和XPS测试和分析发现,电子辐照造成瑞侃导线分子链降解,形成自由基以及气体,自由基的再交联是造成瑞侃导线损伤的重要机理。     

紫外光照凝胶固化-纳米颗粒增强LIBS检测强酸性废水中的重金属

强酸性废水组份复杂,且常规方法难以快速准确地检测其中的重金属,为此建立了基于样品固化预处理和激光诱导击穿光谱(LIBS)快速准确检测强酸性废水中重金属的方法。结果表明：在紫外光照条件下,固化剂丙烯酰胺和丙烯酸受光引发剂(2-羟基-4′-(2-羟乙氧基)-2-甲基苯丙酮)作用聚合形成相互交联的长链聚合物网络结构,可在广泛的酸度下实现对强酸性废水的快速凝胶固化;同时凝胶表面覆上纳米银颗粒能增强激光对样品表面的烧蚀强度,增强了LIBS光谱强度;LIBS激发的Cu(I) 324.75 nm、Ni(I) 218.64 nm 和Zn(II) 206.12 nm光谱强度与无纳米银颗粒相比得到了显著提高。在优化的固化条件和LIBS系统参数下,紫外光照凝胶固化纳米颗粒增强LIBS对强酸性废水中Cu²⁺、Ni²⁺和Zn²⁺ 重金属的检出限分别为1.489、1.512和 4.886 mg∙L⁻¹。对实际强酸性废水中Cu²⁺、Ni ²⁺和Zn²⁺ 的加标回收测定结果表明,该方法对强酸性废水中重金属分析具有良好的准确性和稳定性。紫外光照凝胶固化-纳米颗粒增强LIBS方法可实现强酸性废水中重金属的快速和精准检测,为强酸性废水中重金属的检测提供新的技术支持。     

Developing an interdisciplinary and cross‐sectoral community of practice in the domain of forests and livelihoods

Although significant resources are being spent researching and fostering the relationship between forests and livelihoods to promote mutually beneficial outcomes, critical gaps in understanding persist. A core reason for such gaps is that researchers, practitioners, and policy makers lack the structured space to interact and collaborate, which is essential for effective, interdisciplinary research, practice, and evaluation. Thus, scientific findings, policy recommendations, and measured outcomes have not always been synthesized into deep, systemic understanding; learning from practice and implementation does not easily find its way into scientific analyses, and science often fails to influence policy. Communities of practice (CofPs) are dynamic sociocultural systems that bring people together to share and create knowledge around a common topic of interest. They offer participants a space and structure within which to develop new, systemic approaches to multidimensional problems on a common theme. Uniquely informed by a systems‐thinking perspective and drawing from the scientific and gray literatures and in‐depth interviews with representatives of established CofPs in the natural resource management and development domain, we argue that a well‐designed and adequately funded CofP can facilitate interdisciplinary and cross‐sectoral relationships and knowledge exchange. Well‐designed CofPs integrate a set of core features and processes to enhance individual, collective, and domain outcomes; they set out an initial but evolving purpose, encourage diverse leadership, and promote collective‐identity development. Funding facilitates effective communication strategies (e.g., in person meetings). We urge our colleagues across sectors and disciplines to take advantage of CofPs to advance the domain of forests and livelihoods.     

Estimating abundance without recaptures of marked pallid sturgeon in the Mississippi River

Abundance estimates are essential for assessing the viability of populations and the risks posed by alternative management actions. An effort to estimate abundance via a repeated mark‐recapture experiment may fail to recapture marked individuals. We devised a method for obtaining lower bounds on abundance in the absence of recaptures for both panmictic and spatially structured populations. The method assumes few enough recaptures were expected to be missed by random chance. The upper Bayesian credible limit on expected recaptures allows probabilistic statements about the minimum number of individuals present in the population. We applied this method to data from a 12‐year survey of pallid sturgeon (Scaphirhynchus albus) in the lower and middle Mississippi River (U.S.A.). None of the 241 individuals marked was recaptured in the survey. After accounting for survival and movement, our model‐averaged estimate of the total abundance of pallid sturgeon ≥3 years old in the study area had a 1%, 5%, or 25% chance of being <4,600, 7,000, or 15,000, respectively. When we assumed fish were distributed in proportion to survey catch per unit effort, the farthest downstream reach in the survey hosted at least 4.5–15 fish per river kilometer (rkm), whereas the remainder of the reaches in the lower and middle Mississippi River hosted at least 2.6–8.5 fish/rkm for all model variations examined. The lower Mississippi River had an average density of pallid sturgeon ≥3 years old of at least 3.0–9.8 fish/rkm. The choice of Bayesian prior was the largest source of uncertainty we considered but did not alter the order of magnitude of lower bounds. Nil‐recapture estimates of abundance are highly uncertain and require careful communication but can deliver insights from experiments that might otherwise be considered a failure.     

Use of genetic,climatic, and microbiological data to inform reintroduction of a regionally extinct butterfly

Species reintroductions are increasingly used as means of mitigating biodiversity loss. Besides habitat quality at the site targeted for reintroduction, the choice of source population can be critical for success. The butterfly Melanargia russiae (Esper´s marbled white) was extirpated from Hungary over 100 years ago, and a reintroduction program has recently been approved. We used museum specimens of this butterfly, mitochondrial DNA data (mtDNA), endosymbiont screening, and climatic‐similarity analyses to determine which extant populations should be used for its reintroduction. The species displayed 2 main mtDNA lineages across its range: 1 restricted to Iberia and southern France (Iberian lineage) and another found throughout the rest of its range (Eurasian lineage). These 2 lineages possessed highly divergent wsp alleles of the bacterial endosymbiont Wolbachia. The century‐old Hungarian specimens represented an endemic haplotype belonging to the Eurasian lineage, differing by one mutation from the Balkan and eastern European populations. The Hungarian populations of M. russiae occurred in areas with a colder and drier climate relative to most sites with extant known populations. Our results suggest the populations used for reintroduction to Hungary should belong to the Eurasian lineage, preferably from eastern Ukraine (genetically close and living in areas with the highest climatic similarity). Materials stored in museum collections can provide unique opportunities to document historical genetic diversity and help direct conservation.