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991.
R. B. H. Schutgens G. Schrakamp R. J. A. Wanders H. S. A. Heymans H. W. Moser A. E. Moser J. M. Tagers H. V. D. Bosch P. Aubourm 《黑龙江环境通报》1985,5(5):337-344
Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome. 相似文献
992.
993.
MATTHEW SOMMERVILLE E.J. MILNER‐GULLAND MICHAEL RAHAJAHARISON JULIA P.G. JONES 《Conservation biology》2010,24(6):1488-1498
Abstract: Despite the growing interest in conservation approaches that include payments for environmental services (PES), few evaluations of the influence of such interventions on behaviors of individuals have been conducted. We used self‐reported changes in six legal and illegal forest‐use behaviors to investigate the way in which a PES for biodiversity conservation intervention in Menabe, Madagascar, influenced behavior. Individuals (n =864) from eight intervention communities and five control communities answered questions on their forest‐use behaviors before and after the intervention began, as well as on their reasons for changing and their attitudes to various institutions. The payments had little impact on individuals’ reported decisions to change behaviors, but it had a strong impact on individuals’ attitudes. Payments appeared to legitimize monitoring of behaviors by the implementing nongovernmental organization (NGO), but did not act as a behavioral driver in their own right. Although there were no clear differences between changes in behaviors in the intervention and control communities, the intervention did influence motivations for change. Fear of local forest associations and the implementing NGO were strong motivators for changing behavior in communities with the PES intervention, whereas fear of the national government was the main reason given for change in control communities. Behavioral changes were most stable where fear of local organizations motivated the change. Our results highlight the interactions between different incentives people face when making behavioral decisions and the importance of considering the full range of incentives when designing community‐based PES interventions. 相似文献
994.
Jonathan E. Naile Jong Seong Khim Jessica N. House Paul D. Jones John P. Giesy 《毒物与环境化学》2013,95(7):1219-1232
It has been reported that the relative response factors of isotopically labeled standards and unlabeled standards of the same perfluorinated compounds could be different. Individual (100 ng mL?1) solutions of perfluorooctanoic acid (PFOA) and perfluorooctane sulfonate (PFOS) were analyzed using high-performance liquid chromatography tandem mass-spectrometry under negative-ion electrospray to detect any impurities present down to 0.5%–0.1% relative to the major component. Purity of the standards ranged from approximately 86% to ≥ 97%. Standard solutions of unlabeled and isotopically labeled materials were analyzed to compare the response factors of isotopically labeled analytes versus their nonlabeled counterparts in three different matrices at equivalent concentrations: organic solvent (methanol), serum extract, and water present individually and concurrently. Not all labeled analytes have the same response factor as their nonlabeled complement, and in at least one case the matrix in which the standard is present may cause significant suppression of response. Standard solutions of electrochemical fluorination produced PFOA and PFOS were quantified under multiple reaction monitoring mode, using calibration curves prepared from standards consisting primarily of linear standards only. The use of linear only standards may cause under-prediction of concentrations, and that the working range of these standards may be limited. 相似文献
995.
Ángel F. Herrera-Ulloa Anthony T. Charles Salvador E. Lluch-Cota Hermán Ramirez-Aguirre Sergio Hernández-Váquez Alfredo Ortega-Rubio 《国际发展与全球生态学杂志》2013,20(4):353-360
Sustainable development, as a multi-dimensional concept, is difficult to measure. Some efforts using indicators and indices have appeared in recent years, but most were developed on a national scale. Use of sustainability indicators has proven valuable for attaining better management of the environment by minimizing information gaps and maximizing community capabilities in terms of economic, social, environmental, and institutional sustainability dimensions. However, at least in the case of developing countries, the potential exists that national sustainability measures, based on national level indicators, may mask problems in sub-national zones with highly unsustainable conditions. This paper proposes a methodology to evaluate sustainable development at a local level, the use of which could be helpful in comparing different regions within a country or even among different countries. National sustainability indicators should result from a combination (whether additive or proportional) of regional sustainability indicators, as developed in this paper. 相似文献
996.
Haifa RAJHI Daniel PUYOL Mirna C. MARTÍNEZ Emiliano E. DÍAZ José L. SANZ 《Frontiers of Environmental Science & Engineering》2016,10(3):513-521
The successful operation of any type of hydrogen-producing bioreactor depends on the performance of the microorganisms present in the system. Both substrate and partial gas pressures are crucial factors affecting dark fermentation metabolic pathways. The main objective of this study was to evaluate the impact of both factors on hydrogen production using anaerobic granular sludge as inoculum and, secondly, to study the metabolic shifts of an anaerobic community subjected to low partial gas pressures. With this goal in mind, seven different wastewater (four synthetic media, two industrial wastewater, and one domestic effluent) and the effect of applying vacuum on the systems were analyzed. The application of vacuum promoted an increase in the diversity of hydrogenproducing bacteria, such as Clostridium, and promoted the dominance of acetoclastic- over hydrogenotrophic methanogens. The application of different media promoted a wide variety of metabolic pathways. Nevertheless, reduction of the hydrogen partial pressure by application of vacuum lead to further oxidation of reaction intermediates irrespective of the medium used, which resulted in higher hydrogen and methane production, and improved the COD removal. Interestingly, vacuum greatly promoted biogenic hydrogen production from a real wastewater, which opens possibilities for future application of dark fermentation systems to enhance biohydrogen yields. 相似文献
997.
Hazel A. Jackson Lawrence Percival-Alwyn Camilla Ryan Mohammed F. Albeshr Luca Venturi Hernán E. Morales Thomas C. Mathers Jonathan Cocker Samuel A. Speak Gonzalo G. Accinelli Tom Barker Darren Heavens Faye Willman Deborah Dawson Lauren Ward Vikash Tatayah Nicholas Zuël Richard Young Lianne Concannon Harriet Whitford Bernardo Clavijo Nancy Bunbury Kevin M. Tyler Kevin Ruhomaun Molly K. Grace Michael W. Bruford Carl G. Jones Simon Tollington Diana J. Bell Jim J. Groombridge Matt Clark Cock Van Oosterhout 《Conservation biology》2022,36(4):e13918
The pink pigeon (Nesoenas mayeri) is an endemic species of Mauritius that has made a remarkable recovery after a severe population bottleneck in the 1970s to early 1990s. Prior to this bottleneck, an ex situ population was established from which captive-bred individuals were released into free-living subpopulations to increase population size and genetic variation. This conservation rescue led to rapid population recovery to 400–480 individuals, and the species was twice downlisted on the International Union for the Conservation of Nature (IUCN) Red List. We analyzed the impacts of the bottleneck and genetic rescue on neutral genetic variation during and after population recovery (1993–2008) with restriction site-associated sequencing, microsatellite analyses, and quantitative genetic analysis of studbook data of 1112 birds from zoos in Europe and the United States. We used computer simulations to study the predicted changes in genetic variation and population viability from the past into the future. Genetic variation declined rapidly, despite the population rebound, and the effective population size was approximately an order of magnitude smaller than census size. The species carried a high genetic load of circa 15 lethal equivalents for longevity. Our computer simulations predicted continued inbreeding will likely result in increased expression of deleterious mutations (i.e., a high realized load) and severe inbreeding depression. Without continued conservation actions, it is likely that the pink pigeon will go extinct in the wild within 100 years. Conservation rescue of the pink pigeon has been instrumental in the recovery of the free-living population. However, further genetic rescue with captive-bred birds from zoos is required to recover lost variation, reduce expression of harmful deleterious variation, and prevent extinction. The use of genomics and modeling data can inform IUCN assessments of the viability and extinction risk of species, and it helps in assessments of the conservation dependency of populations. 相似文献
998.
999.
Alan R. Thornhill John A. McGrath Robin A. J. Eady Peter R. Braude Alan H. Handyside 《黑龙江环境通报》2001,21(6):490-497
Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles, remains the most significant problem in PCR-based PGD testing since it can result in serious misdiagnosis for compound heterozygous or autosomal dominant conditions. A number of different strategies (including the use of lysis buffers to break down the cell and make the DNA accessible) have been employed to combat ADO with varying degrees of success, yet there is still no consensus among PGD centres over which lysis buffer should be used (ESHRE PGD Consortium, 1999 ). To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated. Single lymphocytes from individuals heterozygous for mutations within each of the three genes were collected and lysed in either alkaline lysis buffer (ALB) or proteinase K/SDS lysis buffer (PK). PCR amplification efficiencies were comparable between alkaline lysis and proteinase K lysis for PCR products spanning each of the three mutated loci (ΔF508 in CFTR 90% vs 88%; R650X in LAMA3 82% vs 78%; and Y71X in PKP1 91% vs 87%). While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%). Based on these results, we are currently using ALB in preference to PK/SDS buffer for the lysis of cells in clinical PGD. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
1000.
L. E. M. Niers J. A. M. Smeitink J. M. F. Trijbels R. C. A. Sengers A. J. M. Janssen L. P. van den Heuvel 《黑龙江环境通报》2001,21(10):871-880
NADH:ubiquinone oxidoreductase (complex I of the mitochondrial respiratory chain) deficiency is a severe disorder with an often early fatal outcome. Prenatal diagnosis for complex I defects currently relies mainly on biochemical assays of complex I in fetal tissues such as chorionic villi (CV), and is only in a minority of cases possible by means of mutational analysis of nuclear-encoded genes of complex I. We report on our experience to date with prenatal diagnosis in pregnancies at risk for complex I deficiency. We measured complex I activity in native CV and/or cultured CV in 23 pregnancies in 15 families. In accordance with the results of the investigations in CV, 15 children were born clinically unaffected. Two prenatally diagnosed unaffected fetuses and two prenatally diagnosed affected fetuses were lost prematurely with spontaneous or provoked abortions, respectively. Two affected children were born (prenatally found to be affected). In two pregnancies a discrepancy between native and cultured cells was found. We conclude that prenatal diagnosis for complex I deficiency can be reliably performed. Pitfalls were encountered in using cultured CV as a result of maternal cell contamination (MCC). Future research on pathogenic nuclear mutations underlying complex I deficiency will extend the possibilities for prenatal diagnosis at the molecular level. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献