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1.
Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.  相似文献   
2.
Abstract: As zebra mussels (Dreissena polymorpha) continue to spread among inland lakes of the United States and Canada, there is growing interest from professionals, citizens, and other stakeholders to know which lakes are likely to be colonized by zebra mussels. Thus, we developed a classification of lake suitability for zebra mussels on the basis of measured or estimated concentrations of dissolved calcium in lake water and applied the classification to >11,500 lakes in Wisconsin and the Upper Peninsula of Michigan. The majority of lakes (58%) were classified as unsuitable (<10 mg/L Ca) for survival and reproduction of zebra mussels, 27% were identified as suitable (≥21 mg/L Ca), and 15% were classified as borderline suitable (≥10 and <21 mg/L Ca). Of the 77 inland lakes with confirmed zebra mussel records for which data on dissolved calcium were available, our method classified 74 as suitable and 3 as borderline suitable. To communicate this lake‐specific suitability information and to help prioritize regional efforts to monitor and prevent the expansion of zebra mussels and other invasive species, we developed a web‐based interface (available from http://www.aissmartprevention.wisc.edu/ ). Although we are still uncertain of how access to suitability information ultimately affects decision making, we believe this is a useful case study of building communication channels among researchers, practitioners, and the public.  相似文献   
3.
Eleven fetuses at risk for the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) were studied using DNA markers and the results were compared with the results of electron microscopy (EM) of chorionic villus specimens from pregnancies in the first or early second trimester of pregnancy. In four cases, the prenatal diagnosis was made independently with both methods, and in seven cases, the EM diagnosis was confirmed postnatally or from autopsy material using RFLP analysis. The two methods gave concordant results in all cases. The DNA analysis based on RFLP haplotypes also for the first time facilitates reliable carrier diagnostics. RFLP analysis based on polymorphic markers closely linked to the INCL locus is now available for prenatal diagnosis of this fatal brain disease, whose biochemical background is totally unknown and for which no treatment is available.  相似文献   
4.
Trisomy 12 mosaicism (44 per cent) was detected prenatally in cultured amniocytes. A cordocentesis was performed to confirm the result. Only normal cells were found in the fetal blood sample. The fetus was estimated to be at a low risk of having a chromosomal abnormality and the pregnancy continued. Eight days after birth, a congenital heart defect was detected in the child. Several dysmorphic features were also evident. Further karyotyping of different tissues revealed normal blood and urinary cells but trisomic cells in the placenta (100 per cent) and in skin fibroblasts (25 per cent). The child died at 5 weeks of age. In this case, the fetal blood sample failed to reveal the real chromosome constitution of the fetus.  相似文献   
5.
The International Union for Conservation of Nature (IUCN) Red List Index (RLI) is recognized as one of the key indicators of trends in the status of species. The red‐list assessment done by Finnish authorities of species in Finland is taxonomically one of the most extensive national assessments. We used the Finnish Red Lists from 2000 and 2010 to calculate for the first time the national RLIs for 11 taxonomic groups at different trophic levels and with different life cycles. The red‐list index is calculated on the basis of changes in red‐list categories and indicates trends in the status of biological diversity of sets of species. The RLI value ranges from 0 to 1. The lower the value the faster the set of species is heading toward extinction. If the value is 1, all species in the set are least concern and if the value is 0, all species are (regionally) extinct. The overall RLI of Finnish species decreased. This means that, in Finland, these taxonomic groups were heading toward extinction faster in 2010 than in 2000. Of the analyzed groups of organisms, RLIs of 5 decreased and RLIs of 6 increased. At the national level, the RLIs and status trends varied markedly between species groups. Thus, we concluded that generalizations on the basis of RLIs of a few taxa only may yield a biased view of ongoing trends in the status of biological diversity at the species level. In addition, one overall RLI that includes many different species groups may also be misleading if variation in RLI among species groups is not considered and if RLI values are not presented separately for each group. Aplicación del Índice de la Lista Roja a Nivel Nacional para Grupos de Especies Múltiples  相似文献   
6.
Abstract: Understanding the risk of extinction of a single population is an important problem in both theoretical and applied ecology. Local extinction risk depends on several factors, including population size, demographic or environmental stochasticity, natural catastrophe, or the loss of genetic diversity. The probability of local extinction may also be higher in low‐quality sink habitats than in high‐quality source habitats. We tested this hypothesis by comparing local extinction rates of 15 species of Odonata (dragonflies and damselflies) between 1930–1975 and 1995–2003 in central Finland. Local extinction rates were higher in low‐quality than in high‐quality habitats. Nevertheless, for the three most common species there were no differences in extinction rates between low‐ and high‐quality habitats. Our results suggest that a good understanding of habitat quality is crucial for the conservation of species in heterogeneous landscapes.  相似文献   
7.
Abstract: Recent literature on systematic conservation planning has focused strongly on economics. It is a necessary component of efficient conservation planning because the question is about effective resource allocation. Nevertheless, there is an increasing tendency toward economic factors overriding biological considerations. Focusing too narrowly on economic cost may lead us back toward solutions resembling those obtained by opportunistic choice of areas, the avoidance of which was the motivation for development of systematic approaches. Moreover, there are many overlooked difficulties in incorporating economic considerations reliably into conservation planning because available economic data and the free market are complex. For instance, economies based on free markets tend to be shortsighted, whereas biodiversity conservation aims far into the future. Although economic data are necessary, they should not be relied on too heavily or considered separately from other sociopolitical factors. We suggest focusing on development of more‐comprehensive ecological‐economic modeling, while not forgetting the importance of purely biological analyses that are needed as a point of reference for evaluating conservation outcomes.  相似文献   
8.
Abstract:  In transient environments, where local extinctions occur as a result of destruction or deterioration of the local habitat, the long-term persistence of a species requires successful colonizations at new, suitable sites. This kind of habitat tracking should be associated with the asynchronous dynamics of local populations, and it can be especially important for the conservation of rare plant species in riparian habitats. We determined spatiotemporal variation in the demography of the perennial Silene tatarica (L.) Pers. in 15 populations (1998–2003) located in periodically disturbed riparian habitats. The habitats differed according to their morphology (flat shores, slopes) and the amount of bare ground (open, intermediate, closed) along a successional gradient. We used elasticity and life-table response analyses and stochastic simulations to study the variation in population demography. Finite population growth rate was higher in intermediate habitats than in open and closed habitats. In stochastic simulations population size increased in most cases, but four populations were projected to become extinct within 12–70 years. The viability of local populations depended most on the survival and growth of juvenile individuals and on the fecundity of large fertile individuals. On a regional scale, the persistence of this species will require a viable network of local populations as protection against local extinctions caused by natural disturbances and succession. Accordingly, the long-term persistence of riparian species may depend on habitat changes; thus, their conservation requires maintenance of natural disturbance dynamics. Along regulated rivers, management activities such as the creation of open habitats for new colonization should be implemented. Similarly, these activities can be rather general requirements for the conservation of endangered species dependent on transient habitats along successional gradients.  相似文献   
9.
The outcome of analyses that prioritize locations for conservation on the basis of distributions of species, land cover, or other elements is influenced by the spatial resolution of data used in the analyses. We explored the influence of data resolution on prioritization of Finnish forests with Zonation, a software program that ranks the priority of cells in a landscape for conservation. We used data on the distribution of different forest types that were aggregated to nine different resolutions ranging from 0.1 × 0.1 km to 25.6 × 25.6 km. We analyzed data at each resolution with two variants of Zonation that had different criteria for prioritization, with and without accounting for connectivity and with and without adjustment for the effect on the analysis of edges between areas at the project boundary and adjacent areas for which data do not exist. Spatial overlap of the 10% of cells ranked most highly when data were analyzed at different resolutions varied approximately from 15% to 60% and was greatest among analyses with similar resolutions. Inclusion of connectivity or edge adjustment changed the location of areas that were prioritized for conservation. Even though different locations received high priority for conservation in analyses with and without accounting for connectivity, accounting for connectivity did not reduce the representation of different forest types. Inclusion of connectivity influenced most the outcome of fine-resolution analyses because the connectivity extents that we based on dispersal distances of typical forest species were small. When we kept the area set aside for conservation constant, representation of the forest types increased as resolution increased. We do not think it is necessary to avoid use of high-resolution data in spatial conservation prioritization. Our results show that large extent, fine-resolution analyses are computationally feasible, and we suggest they can give more flexibility to implementation of well-connected reserve networks.  相似文献   
10.
Balancing ecological and social outcomes of conservation actions is recognized in global conservation policy but is challenging in practice. Compensation to land owners or users for foregone assets has been proposed by economists as an efficient way to mitigate negative social impacts of human displacement from protected areas. Joint empirical assessments of the conservation and social impacts of protected area establishment involving compensation payments are scarce. We synthesized social and biological studies related to the establishment of the Derema forest corridor in Tanzania's biodiverse East Usambara Mountains. This lengthy conservation process involved the appropriation of approximately 960 ha of native canopy agroforest and steep slopes for the corridor and monetary compensation to more than 1100 claimants in the surrounding villages. The overarching goals from the outset were to conserve ecological processes while doing no harm to the local communities. We evaluated whether these goals were achieved by analyzing 3 indicators of success: enhancement of forest connectivity, improvement of forest condition, and mitigation of negative impacts on local people's livelihoods. Indicators of forest connectivity and conditions were enhanced through reductions of forest loss and exotic species and increases in native species and canopy closure. Despite great efforts by national and international organizations, the intervention failed to mitigate livelihood losses especially among the poorest people. The Derema case illustrates the challenges of designing and implementing compensation schemes for conservation‐related displacement of people. Resultados Ecológicos y Sociales de un Área Protegida Nueva en Tanzania  相似文献   
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