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981.
We describe two fetuses from unrelated families with likely pathogenic variants in ITPR1 that presented with nonimmune fetal hydrops. Trio exome sequencing revealed a de novo heterozygous likely pathogenic missense variant c.7636G > A (p.Val2531Met) in ITPR1 (NM_001378452.1) in proband 1 and a de novo heterozygous likely pathogenic missense variant c.34G > A [p.Gly12Arg] in proband 2. Variants in ITPR1 have been associated with several genetic conditions, including spinocerebellar ataxia 15, spinocerebellar ataxia 29, and Gillespie syndrome. Our report on two patients details a previously undescribed severe fetal presentation of nonimmune hydrops fetalis associated with missense variants in the ITPR1 gene.  相似文献   
982.
镉铅对小麦醇脱氢酶(ADH)基因表达影响的初步研究   总被引:11,自引:0,他引:11  
经过镉,铅45h污染处理,运用Northein斑点杂分析和酶活性测定的方法探测萌发期小麦ADH酶基因的表达情况。实验结果表明,ADH基因表达在RNA和酶活性两个层次均有变化,并且呈现相似的变化趋势,反映得金属的影响是来源于基因转录水平。  相似文献   
983.
对2003年6月采集的长江口及邻近海域的24个表层沉积物样品进行分析,分别得到C、N、P三种营养元素的三种形态的含量,并由此得到不同形态营养元素的平面分布及其在总量中所占的份额,即IC、IP为C、P的优势形态,而ON为N的优势形态。在此基础上,进一步分析了影响不同营养元素分布的因素,得出上覆水体的温度、沉积物粒度以及水动力条件等对沉积物中营养元素的分布具有重要影响。  相似文献   
984.
本研究对尼泊尔全国药用植物的年产量及商业价值进行了评估.我们对尼泊尔15个地区的当地药用植物交易者(n=149)和印度的地区批发商(n=53)进行了无限制问卷调查,借以收集数据.据估计,年交易额的范围为7000~27 000t,案例年份1997~1998年的产量为14 500t.按印度主要市场的地区批发商购买价格计算,相应的年出口额估计为700~3000万美元,1997~1998年为1600万美元.约有10%的农户参与了商品化采集.低海拔生态区在产量和价值两方面均占优势;就价值而言,药草是最重要的生活型.约有36%的产量和51%的价值来自破坏性采集.有人认为,年产量和价值数据仍有可能属于保守估计.本文还简短讨论了本研究结果对喜马拉雅药用植物保护及贸易的意义.  相似文献   
985.
Wet deposition is an important process that removes pollutants from the atmosphere and transfers them to waters and soil. The goal of this study was to assess the biological effects of the atmospheric contamination of rainwater in the metropolitan area of São Paulo (MASP) using Daphnia similis, Ceriodaphnia dubia, and Vibrio fischeri. Experimental assays were carried out according to standard toxicity methodology. Twenty-three rainwater samples were collected from October 2007 to December 2008, at the Nuclear Research Institute (IPEN), in MASP. Major ions were determined by ionic chromatography, which showed NH4 + and NO3 ? as prevalent ions. Ecotoxicological results confirmed toxic potential of rainwater, as all samples were toxic to D. similis and C. dubia. The V. fischeri luminescence reduction confirmed those negative effects of rainwater and percentage inhibition of relative luminescence ranged from 0.2 to 0.9 for 16 samples. Worse conditions were observed during the rainy season, suggesting convective rains are more effective in transferring contaminants and toxicity from atmosphere to surface.  相似文献   
986.
A Wasteload allocation model, named Cost-Flow-Augmentation Model involving wastewater treatment and flow augmentation as a method of pollution abatement has been developed. The cost functions for wastewater treatment were developed as power functions of biochemical oxygen demand (BOD) removal using the regression module of the SPSS10 software. The cost function for flow augmentation was also developed using a regression between cost of dam/barrage and corresponding flow released from upstream reservoir for downstream water quality improvement. The response of wasteloads and flow augmentation on the water quality was quantified in terms of transfer coefficient calculated using the QUAL2E water quality simulation model. The performance of these models is demonstrated on the 22-km-long Delhi stretch of river Yamuna, India. Optimal solutions of the formulated models were obtained using the Web-based interactive non-differentiable interactive multiobjective bundle-based optimization system software. The optimal solutions obtained reveal that flow augmentation is not an economically feasible pollution abatement option for the Delhi stretch of river Yamuna.  相似文献   
987.
Thousands of hard rock mines exist in the western USA and in other parts of the world as a result of historic and current gold, silver, lead, and mercury mining. Many of these sites in the USA are on public lands. Typical mine waste associated with these sites are tailings and waste rock dumps that may be used by wildlife and open-range livestock. This report provides wildlife screening criteria levels for metals in soil and mine waste to evaluate risk and to determine the need for site-specific risk assessment, remediation, or a change in management practices. The screening levels are calculated from toxicity reference values based on maximum tolerable levels of metals in feed, on soil and plant ingestion rates, and on soil to plant uptake factors for a variety of receptors. The metals chosen for this report are common toxic metals found at mining sites: arsenic, cadmium, copper, lead, mercury, and zinc. The resulting soil screening values are well above those developed by the US Environmental Protection Agency. The difference in values was mainly a result of using toxicity reference values that were more specific to the receptors addressed rather than the most sensitive receptor.  相似文献   
988.
The study was carried out to understand the variability in phytoplankton production (Chlorophyll a) and mesozooplankton diversity from two different shallow coastal regions of south Andaman viz. Port Blair Bay (PBB), the only real urban area among the islands and Mahatma Gandhi Marine National Park, a Marine Protected Area (MPA) at Wandoor. Seasonal sampling was carried out during the Northeast monsoon (NEM—November 2005), Intermonsoon (IM—April 2006), and Southwest monsoon (SWM—August 2006). Significant (P?<?0.05) seasonal variation was observed in the environmental variables at both the regions. Higher average chlorophyll a (Chl. a) and mesozooplankton standing stock were observed at PBB compared to MPA, but the seasonal variation observed was marginal at both the study areas. Chl. a showed a steep increasing gradient from outer to the inner regions of the PBB. The number of zooplankton taxa recorded at both areas was quite similar, but marked differences were noticed in their relative contribution to the total abundance. Eventhough the Copepoda dominated at both the areas, the non-copepod taxa differed significantly between the regions. Dominance of carnivores such as siphonophores and chaetognaths were noticed at PBB, while filter feeders such as appendicularians and decapod larvae were more abundant at MPA. A total of 20 and 21 copepod families was recorded from PBB and MPA, respectively. Eleven species of chaetognaths were observed as common at both areas. Larval decapods were found to be predominant at MPA with 20 families; whereas, at PBB, only 12 families were recorded. In the light of the recent reports on various changes occurring in the coastal waters of the Andaman Islands, it is suspected that the difference in Chl. a as well as the mesozooplankton standing stock and community structure observed between the two study areas may be related to the various anthropogenic events influencing the coastal waters.  相似文献   
989.
Ria de Aveiro, which is located in the centre of Portugal (40° 38′ N, 8° 45′ W), is a well-mixed and complex coastal lagoon that is separated from the sea by a sandy barrier and connects with the Atlantic through an artificial inlet. Tidal currents are the main factor controlling the lagoon’s hydrodynamics and, to a great extent, the sedimentary dynamic. The inner lagoonal zones receive input from several rivers and experience the pressure caused by the accumulation of organic matter and pollutants (namely, trace metals) from diverse anthropic activities. This paper is the first piece of work aiming to recognize, characterize and explain the main benthic foraminiferal biotopes in Ria de Aveiro. To provide a broad overview of this kind of setting, our results are compared to those of previous published studies conducted in similar transitional environments. The research is based on an investigation of 225 sites spread throughout this ecosystem. Utilizing a statistical approach, this study analyses the details of dead benthic foraminiferal assemblages composed of 260 taxa, the texture and composition (mineralogical and geochemical) of the sediment and physicochemical data. On the basis of the results of R-mode and Q-mode cluster analyses, several different biotopes can be defined as marsh biotope/near-marsh biotope; marginal urban/marginal urban mixing biotope; inner-outer lagoon biotope or enclosed lagoon; outer lagoon biotope, mixed sub-biotope; and outer lagoon, marine sub-biotope. These biotopes are related to foraminifera assemblages and substrate type and are influenced by local currents, water depth, chemical and physicochemical conditions, river or oceanic proximity, and anthropogenic impact, as evidenced by the mapping of the six factor loadings of the principal component analysis conducted herein. Based on a similar methodology of analysis as that applied in previous studies in the Lagoon of Venice, comparable biotypes were identified in Lagoon of Aveiro.  相似文献   
990.
Electrofishing is widely used to monitor fish species composition and relative abundance in streams and lakes. According to standard protocols, multiple segments are selected in a body of water to monitor population relative abundance as the ratio of total catch to total sampling effort. The standard protocol provides an assessment of fish distribution at a macrohabitat scale among segments, but not within segments. An ancillary protocol was developed for assessing fish distribution at a finer scale within electrofishing segments. The ancillary protocol was used to estimate spacing, dispersion, and association of two species along shore segments in two local reservoirs. The added information provided by the ancillary protocol may be useful for assessing fish distribution relative to fish of the same species, to fish of different species, and to environmental or habitat characteristics.  相似文献   
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