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11.
Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder resulting in short stature and hypoplasia of hair. Associated features include impaired T-cell-mediated immunity, deficient erythropoiesis, gastrointestinal dysfunction, and an increased risk of malignancies. As the condition may, in some cases, be severe or even fatal during childhood, families with a previous history of CHH may wish to have prenatal diagnosis. We have previously assigned the gene for CHH to the proximal 9p by linkage analysis using several polymorphic DNA markers. Here we report the prenatal testing for CHH in three Finnish and one Australian family using three DNA markers closely linked to the CHH gene. In three cases a fetus unaffected with CHH was predicted at the probability level of more than 94 per cent. In one case, an affected fetus was predicted. The results were in concordance with ultrasonography performed for all fetuses. The three children born to date were unaffected as predicted. The DNA marker-based analysis thus provides a useful method for early prenatal testing for CHH.  相似文献   
12.
In 2014, the Fish and Wildlife Service (FWS) and National Marine Fisheries Service announced a new policy interpretation for the U.S. Endangered Species Act (ESA). According to the act, a species must be listed as threatened or endangered if it is determined to be threatened or endangered in a significant portion of its range (SPR). The 2014 policy seeks to provide consistency by establishing that a portion of the range should be considered significant if the associated individuals’ “removal would cause the entire species to become endangered or threatened.” We reviewed 20 quantitative techniques used to assess whether a portion of a species’ range is significant according to the new guidance. Our assessments are based on the 3R criteria—redundancy (i.e., buffering from catastrophe), resiliency (i.e., ability to withstand stochasticity), and representation (i.e., ability to evolve)—that the FWS uses to determine if a species merits listing. We identified data needs for each quantitative technique and considered which methods could be implemented given the data limitations typical of rare species. We also identified proxies for the 3Rs that may be used with limited data. To assess potential data availability, we evaluated 7 example species by accessing data in their species status assessments, which document all the information used during a listing decision. In all species, an SPR could be evaluated with at least one metric for each of the 3Rs robustly or with substantial assumptions. Resiliency assessments appeared most constrained by limited data, and many species lacked information on connectivity between subpopulations, genetic variation, and spatial variability in vital rates. These data gaps will likely make SPR assessments for species with complex life histories or that cross national boundaries difficult. Although we reviewed techniques for the ESA, other countries require identification of significant areas and could benefit from this research.  相似文献   
13.
Growing resource demands by humans, invasive species, natural hazards, and a changing climate have created broad‐scale impacts and the need for broader‐extent conservation activities that span ownerships and even political borders. Implementing regional‐scale conservation brings great challenges, and learning how to overcome these challenges is essential for maintaining biodiversity (i.e., richness and evenness of biological communities) and ecosystem functions and services across scales and borders in the face of system change. We administered an online survey to examine factors potentially driving perspectives of protected‐area (PA) managers regarding coordination with neighboring PAs and other stakeholders (i.e., stakeholder coordination) for conserving biodiversity and ecosystem services during the next decade within diverse regions across Europe. Although >70% (n = 58) of responding PA managers indicated that climate change and invasive species are relevant for their PAs, they gave <50% probability that these threats could be mitigated through stakeholder coordination. They thought there was a >60% probability (n = 85) that stakeholder coordination would take place with the aim to improve conservation outcomes. Consistent with the foundation on which many European PAs were established, managers viewed maintaining or enhancing biodiversity as the most important (>70%; n = 61) expected benefit. Other benefits included maintaining or enhancing human resources and environmental education (range of Bayesian credibility intervals [CIs] 57–93%). They thought the main barriers to stakeholder coordination were the lack of human and economic resources (CI 59–67% chance of hindering; n = 64) followed by communication and interstakeholder differences in political structures and laws (CI 51–64% probability of hindering). European policies and strategies that address these hindering factors could be particularly effective means of enabling implementation of green infrastructure networks in which PAs are the nodes.  相似文献   
14.
This paper presents a study of recycling stations in the municipality of Borl?nge, Sweden. The main objectives were to measure volume weights of recyclables, to facilitate future planning of collection intervals and bin/container volume, and to investigate the general attitudes among the public towards waste management in general and recycling stations in particular. Volume weights measured in bins/containers were: paper/newsprint: 297 kg/m3, glass packaging: 297 kg/m3, metal packaging: 81.7 kg/m3, paper packaging: 27.8 kg/m3, plastic packaging: 28.1 kg/m3. The recycling stations have been in use since 1994. Most visitors (90%) arrived by car but said the visit to the recycling station was not the main purpose of the trip. The results from the interviews indicated that the people who use the recycling stations have found ways to incorporate waste sorting into their everyday lives, with the help of information, design of the collection system and environmental concerns.  相似文献   
15.
The activity concentration of (99)Tc in brown seaweed (Fucus vesiculosus and Fucus serratus) and seawater were analysed in samples collected in 1991, 1995 and 2001 at several stations along the Swedish west coast. In addition to these locations, a well-defined site (S?rdal, 56.76 degrees N, 12.63 degrees E) was included with (99)Tc activity concentration data in seaweed from 1967 to 2000. Over the years, the major source of (99)Tc in the coastal waters of western Sweden has been the radioactive liquid discharge from the nuclear fuel reprocessing plant in Sellafield (UK) transported via ocean currents in the North Sea. The (99)Tc activity concentration in seaweed at the S?rdal site increased from approximately 30 Bq kg(-1) up to 230 Bq kg(-1) (dry weight) between 1997 and 2000 due to the Sellafield EARP (Enhanced Actinide Removal Plant) discharges in 1995-1996, yielding an approximate transport time of 4-5 years between the Irish Sea and the Kattegat. Due to the very sharp gradient in (99)Tc concentration between the Baltic Sea and the North Sea, (99)Tc is presently one of the best transit tracers for the recent ventilation events in the Baltic Sea.  相似文献   
16.
We present the concentration trends and the atmospheric exposure of sulfur and nitrogen compounds in different transport sectors during the period 1981-2000, based on the air quality data of the Finnish Meteorological Institute. Sulfur and nitrogen concentrations in air and precipitation were assessed from background stations covering the whole country. A significant decrease of more than 60% was observed in the concentrations of all sulfur compounds throughout the country during 1981-2000. In the 1990's, significant trends were detected in all sulfur time series, with the exception of sulfate in precipitation at the northernmost stations. On the other hand, the concentrations of oxidized nitrogen compounds in air and precipitation have declined only slightly or not at all, especially in the 1990's. This is attributed to the fairly small domestic and European NO(x) emission reductions after 1981. The ammonium concentration in precipitation has declined by more than 50% during 1981-2000. The atmospheric sulfur exposure was found to be dominated by transport from the West and South-West sectors during summer, whereas in winter all the southward sectors were important. The largest decline in the sectoral sulfur concentrations has taken place already before 1991, with a more pronounced reduction during winter than during summer. The atmospheric nitrogen exposure was mainly dominated by transport from the sectors between west and south, but in the latter half of the study period there seems to have been a slight shift towards increased transport from the eastern and northern sectors.  相似文献   
17.
In Sweden there is a strong tradition of using nature areas for outdoor recreation. This paper reports on a study which explored preferences and willingness to pay for outdoor recreation close to home (≤100 km away from home and ≤24 hours stay at a recreation site) using the contingent valuation method. The data originated from a mail survey that involved Swedish residents who were randomly selected from a national register. An ordinary least squares regression model was used to account for factors influencing willingness to pay. The results showed that approximately 50% of the respondents used nature areas close to their home for recreation and their average frequency of visits to these areas was 74 times annually. Areas dominated by forests were the most preferred, followed by water. The respondents were willing to pay approximately 7200 SEK (US$1080) annually. Their willingness to pay was influenced by factors such as type of nature area, distance to and time spent at the recreation site and income. The results provide one input to the land use planning process by considering the demand for nature-based outdoor recreation close to home.  相似文献   
18.
Summary. We propose that variation in the responses of carbon-based secondary compounds to fertilization in woody plants has a biosynthetic cause. The synthesis of phenylpropanoids and derived compounds (e.g., condensed tannins) competes directly with the synthesis of proteins, and therefore with plant growth, because of a common precursor, phenylalanine. In contrast, the biosynthesis of terpenoids and of hydrolyzable tannins proceeds presumably without direct competition with protein synthesis. Therefore, accelerated plant growth induced by fertilization may cause a reduction in concentrations of phenylpropanoids but may affect less or not at all the levels of other classes of secondary compounds. A meta-analysis based on fertilization experiments with 35 woody plant species supported the predicted differences fertilizing significantly decreased concentrations of phenylpropanoids but not of terpenoids or hydrolyzable tannins. Received 14 May 1998; accepted 23 June 1998.  相似文献   
19.
Recent trends in nitrogen and sulphur compounds in air and precipitation from a range of Arctic monitoring stations are presented, with seasonal data from the late 70s to 2004 or 2005. Earlier findings of declining sulphur concentrations are confirmed for most stations, while the pattern is less clear for reduced and oxidized nitrogen. In fact there are positive trends for nitrogen compounds in air at several stations. Acidity is generally reduced at many stations while the precipitation amount is either increasing or stable. Variability of sulphate concentrations in air for the period 1991–2000 is reasonably well reproduced at most stations using an Eulerian, hemispherical model. Results for nitrogen compounds are weaker. Scenario studies show that even if large sulphur emission reductions take place in important source regions in South-East Asia in the coming decades, only small changes in Arctic deposition can be expected. This is because South-East Asian emissions have small influence north of the Arctic circle.  相似文献   
20.
The long-term impacts of current forest management methods on surface water quality in Fennoscandia are largely unexplored. We studied the long-term effects of clear-cutting and site preparation on runoff and the export of total nitrogen (total N), total organic nitrogen (TON), ammonium (NH4-N), nitrate (NO3-N), total phosphorus (total P), phosphate (PO4-P), total organic carbon, and suspended solids (SS) in three paired-catchments in Eastern Finland. Clear-cutting and soil preparation were carried out on 34 % (C34), 11 % (C11), and 8 % (C8) of the area of the treated catchments and wide buffer zones were left along the streams. Clear-cutting and soil preparation increased annual runoff and total N, TON, NO3-N, PO4-P, and SS loads, except for SS, only in C34. Runoff increased by 16 % and the annual exports of total N, TON, NO3-N, and PO4-P by 18, 12, 270, and 12 %, respectively, during the 14-year period after clear-cutting. SS export increased by 291 % in C34, 134 % in C11, and 16 % in C8 during the 14, 6, and 11-year periods after clear-cutting. In the C11 catchment, NO3-N export decreased by 12 %. The results indicate that while current forest management practices can increase the export of N, P and SS from boreal catchments for many years (>10 years), the increases are only significant when the area of clear cutting exceeds 30 % of catchment area.  相似文献   
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