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1.
A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52–95Ml (locus D16S148) and pCJ52-94Tl (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.  相似文献   
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Ju YR  Chen WY  Singh S  Liao CM 《Chemosphere》2011,85(6):1048-1056
The purpose of this paper was to examine trade-offs between elimination and detoxification in rainbow trout and three common bivalve molluscs (clam, oyster, and scallop) exposed to cadmium (Cd), copper (Cu), and zinc (Zn) based on recent reported experimental data. We incorporated metal influx threshold with subcellular partitioning to estimate rate constants of detoxification (kd) and elimination (k2). We found that the relationships between k2 and kd were negative for rainbow trout and positive for bivalve molluscs. However, the relationships between kd and % metal in metabolically detoxified pool were found positive for rainbow trout and negative for bivalve molluscs. Our results also indicated that rainbow trout had higher accumulation (∼60-90%) in metabolically active pool when exposed to essential metals of Cu and Zn and had only 10-50% accumulation in response to non-essential metal of Cd. Based on a cluster analysis, this study indicated that similarity of physiological regulations among study species was found between Cd and Zn. Our study suggested that detoxification can be predicted by an elimination-detoxification scheme with the known elimination rate constant. We concluded that quantification of trade-offs between subcellular partitioning and detoxification provides valuable insights into the ecotoxicology of aquatic organisms and enhances our understanding of the subcellular biology of trace metals.  相似文献   
4.
Effects of C60 nanoparticles (nominal concentrations 0, 15.4 and 154 mg/kg soil) on mortality, growth and reproduction of Lumbricus rubellus earthworms were assessed. C60 exposure had a significant effect on cocoon production, juvenile growth rate and mortality. These endpoints were used to model effects on the population level. This demonstrated reduced population growth rate with increasing C60 concentrations. Furthermore, a shift in stage structure was shown for C60 exposed populations, i.e. a larger proportion of juveniles. This result implies that the lower juvenile growth rate due to exposure to C60 resulted in a larger proportion of juveniles, despite increased mortality among juveniles. Overall, this study indicates that C60 exposure may seriously affect earthworm populations. Furthermore, it was demonstrated that juveniles were more sensitive to C60 exposure than adults.  相似文献   
5.
Fish is the main single source of polychlorinated biphenyls (PCBs) exposure in men. Anecdotal reports suggest high wild fish consumption rates among sport fishermen in Sanski Most area, Bosnia and Herzegovina (BiH). Presence of PCBs in the environment in BiH was previously documented. The main objective of this work was to estimate the magnitude of PCBs exposure and assess the potential health risk in sport fishermen in Sanski Most. The fishing pattern and magnitude of fish consumption were estimated in the questionnaire survey conducted during April 2012 among members (n = 60) of the local sport fishermen association in Sanski Most. Calculated median and high-end (90th percentile) fish consumption rates were 31 g d?1 and 126 g d?1, respectively. The PCB concentrations (as Aroclor 1254 equivalents), determined by ELISA immunoassay in 28 fish fillets ranged from undetectable to 208 μg kg?1. Two different exposure scenarios were used: (a) median exposure, calculated from the median fish consumption rate and median PCB concentrations, and (b) “worst case” scenario, calculated from the high-end fish consumption rate and mean PCB concentrations. The results suggest negligible lifelong cancer and non-cancer risks in case of low to moderate fish consumption rate, but possibly unacceptable risk levels in high-end consumers.  相似文献   
6.
Summary. In the present experiment the behaviour and endocrine status of males of the brown trout, Salmo trutta L., (Salmoniformes: Salmonidae) were studied when males were kept in a stream tank with a nest digging female. Groups of mature adult males and precocious intact or anosmic male parr were placed with the nesting female so that the group resembled a natural spawning situation with big anadromous fish acting as dominant males and precocious parr acting as “sneakers”. A control experiment was also run with only males without a female present. In intact parr there were significant positive correlations between the per cent of the total observation time spent with a female, milt volume, and plasma concentration of 17α, 20β-dihydroxy-4-pregnen-3-one. Anosmic parr had significantly lower volumes of strippable milt and gonadal steroid hormone levels compared with intact parr. However, no differences were found in the control experiment. Significantly fewer anosmic parr attended and courted the nesting female and those anosmic fish that attended the female had significantly lower plasma levels of gonadal hormones. Intact parr also displayed a greater number of agonistic acts against other parr without any difference in fighting ability. No differences in aggression occured in the control experiment. In adult males together with a female, post-experimental gonadal steroid hormone levels were higher than pre-experimental levels. Positive correlations between aggression and androgen hormone levels were observed in adult males. No differences in plasma hormone levels were observed between adult males and intact precocious males. The results show that olfactory occlusion results in low steroid hormone levels and milt volumes in precocious males placed in a spawning situation. The courting behaviour was also affected by anosmia. Odours from the nesting female may have caused the enhanced plasma hormone levels and stimulated the males to attend the female. Received 15 May 1997; accepted 29 June 1997.  相似文献   
7.
ABSTRACT: The potentially toxic components in coal ash (ash particles, heavy metals) were evaluated in laboratory static, acute (96 hr) bioassays, both separately and in various combinations with extreme pH (5.0 and 8.5), using rainbow trout (Salmo gairdneri) and bluegifi sunfish (Lepomis macrochirus). Ash particle morphology and metal distribution anlaysis, using electron microscopy and surface-subsurface analysis by ion microscopy, showed that metals could be either clumped or evenly distributed on the surface of fly ash. Surface enrichment on fly ash particles from electrostatic precipitators, as measured by ion microscopy, was found for cadmium, copper, chromium, nickel, lead, mercury, titanium, arsenic, and selenium. Bottom (heavy) ash was not acutely toxic to either fish species at concentrations of up to 1500 mg/l total suspended solids (TSS) at pH 5.0, 7.5, or 8.5. Fly ash particles were not acutely toxic to blue-gill at levels up to 1360 mg/l TSS. Rainbow trout were highly sensitive to fly ash (25 to 60 percent mortality) at concentrations of 4.3 to 20.5 mg/I TSS when dissolved metal availability was high but were not sensitive at higher particulate concentrations (58 to 638 mg/I TSS) when dissolved metals were low. When metals were acid-leached from fly ash prior to testing, no rainbow trout mortality occurred at TSS concentrations of up to 2,350 mg/l TSS. When the percent of dissolved metal was high (e.g., 50–90 percent of the total), fish mortality was increased. Rainbow trout were nearly two orders of magnitude more sensitive than bluegill when subjected to a blend of cadmium, chromium, copper, nickel, lead, and zinc. The two species were similar in their acute sensitivity to acidic pH at levels at or below 4.0 and alkaline pH of 9.1. If the pH of coal ash effluent is contained within the range 6.0 to 9.0, acute toxicity to fish can be attributed to trace element availability from fly ash but not heavy ash. Control of holding pond and effluent pH and maximizing pond residence time are important strategies for minimizing effects of ash pond discharges on fish.  相似文献   
8.
Flushing flows are re1eses from dams designed to remove fine sediment from downstream spawning habitat. We evaluated flushing flows on reaches proposed for hydroelectric diversions on seven streams in the eastern Sierra Nevada, California, with wild populations of brown trout (Salmo trutta). The stream reaches are steep (average map slopes range from 7 to 17 percent), are dominated by boulder cascades, and afford few opportunities for gravel deposition. Methods for estimating flushing flows from flow records, developed from studies in other localities, produced widely differing results when applied to the study streams, probably reflecting differences in the hydrologic and geomorphic characteristics of the streams on which the methods were developed. Tracer gravel experiments demonstrated that all sampled gravels were washed out by the flows of 1986, a wet year. Size analyses of gravel samples and hydraulic data from field surveys were used in tractive-force calculations in an attempt to specify the flow required to flush the gravels. However, these calculations produced some unrealistic results because the flows were nonuniform in the study reaches. This suggests that the tractive-force approach may not be generally applicable to small, steep streams where nonuniform flow conditions prevail.  相似文献   
9.
Expansion of the distribution of exotic rainbow trout is thought to be a leading cause for the decline of native brook trout since the 1930s in Great Smoky Mountains National Park, USA. An experimental rehabilitation project was conducted from 1976 to 1981 using backpack electrofish shockers on four remnant brook trout populations sympatric with rainbow trout. The objectives were to evaluate the effectiveness of the technique to remove the exotic rainbow trout, to determine the population responses by native brook trout, and to evaluate the usefulness of the technique for trout management in the park.Rainbow trout populations were greatly reduced in density after up to six years of electrofishing, but were not eradicated. Rainbow trout recruitment, however, was essentially eliminated. Brook trout populations responded by increasing in density (including young-of-the-year), but rates of recovery differed among streams. The maximum observed densities ir each stream occurred at the end of the project.The findings suggest that electrofishing had a major negative impact on the exotic species, which was followed by positive responses from the native species in the second and third order study streams. The technique would probably be less effective in larger (fourth-order) park streams, but as an eradication tool the technique may have its highest potential in small first order streams. Nonetheless, the technique appears useful for population control without causing undue impacts on native aquatic species, although it is labor intensive, and capture efficiency is greatly influenced by fish size and stream morphology. To completely remove the exotic fish from selected streams, different technologies will have to be explored and developed.  相似文献   
10.
We applied the adaptive management approach to analyze the demand and feasibility of adaptive management of fish stocks in a large regulated lake, Oulujärvi, in northern Finland. The process consisted of four phases: (1) analysis of the current state of the fisheries system (fishers, related markets and industry, fisheries researches and authorities, related organizations, etc.); (2) analysis of the objectives of different stakeholders; (3) the composition of alternative management strategies and assessment of their impacts; and (4) recommendations for future management. We used catch statistics from the period 1973–1995 to analyze fish stocks and fishing. Fish species involved were brown trout (Salmo trutta L.), whitefish [Coregonus lavaretus (L.) sl.], vendace (Coregonus albula L.); and pikeperch (Stizostedion lucioperca L.). Questionnaires and interviews were applied to ascertain the opinions of different groups of fishermen. Several models and cost–benefit analysis were used to assess the ecological, economic, and social impacts of three alternative management strategies. The results emphasize that when determining stocking levels and fishing regulations, the system should be considered as a whole, and impacts on major fish species and different groups of fishermen should be assessed. The stocking policy and fishing regulations should also be flexible to accommodate changing biotic and societal conditions. The key questions in applying the adaptive management process in Oulujärvi fisheries are how to determine clear objectives for fisheries management, find a fisheries management structure that provides workable interactions between different stakeholders, and arrange cost-effective monitoring. The lessons learned from the Oulujärvi experience and recommendations for fisheries management are relevant to other lakes with conflicting objectives of different stakeholders.  相似文献   
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