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排序方式: 共有262条查询结果,搜索用时 15 毫秒
81.
Brigitte H. W. Faas Dineke Westra Sonja A. de Munnik Maartje van Rij Carlo Marcelis Sara Joosten Ingrid Krapels Vivian Vernimmen Malou Heijligers Marjolein H. Willemsen Nicole de Leeuw Tuula Rinne Rolph Pfundt Sanne P. Smeekens Sander P. A. Stegmann Merryn Macville Esther Sikkel Audrey Coumans Lia Wijnberger Irma Derks Josefa van Lent-Albrechts Tom Hofste Raoul Timmermans Janneke van den End Servi J. C. Stevens Ilse Feenstra 《黑龙江环境通报》2023,43(4):527-543
Objective
We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result.Methods
After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis.Results
In total, 415 prenatal samples were included. Following a non-causative QF-PCR result, WES-CNV analysis was initially requested for 74.3% of the chorionic villus (CV) samples and 45% of the amniotic fluid (AF) samples. In case WES-CNV analysis did not reveal a causative aberration, SNV-re-analysis was requested in 41.7% of the CV samples and 17.5% of the AF samples. All initial analyses could be finished within 2 weeks after sampling. For SNV-re-analysis during pregnancy, turn-around-times (TATs) varied between one and 8 days.Conclusion
We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result. 相似文献82.
Few published studies present data on relationships between fish mercury and surface or pore water sulfate concentrations, particularly on an ecosystem-wide basis. Resource managers can use these relationships to identify the sulfate conditions that contain fish with health-concerning total mercury (THg) levels and to evaluate the role of sulfate in methyl-mercury (MeHg) production. In this study, we derived relationships between THg in three fish trophic levels (mosquitofish, sunfish, and age-1 largemouth bass) and surface water sulfate from 1998 to 2009 for multiple stations across the Everglades Protection Area (EPA). Results show the relationship between sulfate and fish THg in each fish type is nonlinear and largely skewed, similar to the relationship between MeHg production and sulfate concentration in peatland sediment pore water identified by other researchers. Peak fish THg levels occurred in ~1 to 12 mg/L sulfate conditions. There was significant variability in the fish THg data, and there were several instances of high-fish THg levels in high-sulfate conditions (>30 mg/L). Health-concerning fish THg levels were present in all surface water sulfate conditions; however, most of these levels occurred in 1–20 mg/L sulfate. The data in this study, including recent studies, show consistent and identifiable areas of high- and low-fish THg across the spectrum of surface water sulfate concentration, therefore, applying an ecosystem-wide sulfur strategy may be an effective management approach as it would significantly reduce MeHg risk in the EPA. 相似文献
83.
John A. Robertson Alex W. Thomas Julien Modolo Jodi Miller Nicole Juen Alexandre Legros Frank S. Prato 《The Environmentalist》2011,31(2):134-139
The field of bioelectromagnetics, consisting of the study of the interaction between electromagnetic fields and biological
systems, has been rapidly expanding in the recent years. One important factor that contributes importantly to the development
of this field is the continuing advances in technology allowing researchers to investigate different endpoints, or to more
precisely measure changes, if any. Hybrid functional imaging is a rapidly maturing field that opens new, important horizons
for bioelectromagnetics research. Indeed, unraveling the interaction mechanisms of electromagnetic fields on biological systems
(with an emphasis on the brain) requires a monitoring of electrical, functional, and metabolic activity of living tissue at
different temporal and spatial scales. Individual tools (e.g., electroencephalography, EEG; functional magnetic resonance
imaging, fMRI) are limited in their ability to detect the effects of electromagnetic interaction at specific temporal and
spatial scales, so combining these imaging methods offers a unique opportunity to provide a more comprehensive view of effects
in living tissue. In this paper, we will present the different imaging techniques that are available to bioelectromagnetics
researchers, including their capabilities and how they are complemented by simultaneous hybrid imaging. Future possibilities
of hybrid imaging technologies are discussed. 相似文献
84.
Nicole M. Phillips Jennifer A. Chaplin David L. Morgan Stirling C. Peverell 《Marine Biology》2011,158(4):903-915
Northern Australia is considered to be one of the last strongholds for three critically endangered sawfishes, Pristis zijsron, Pristis clavata, and Pristis microdon, making these populations of global significance. Population structure and levels of genetic diversity were assessed for
each species across northern Australia using a portion of the mitochondrial control region. Statistically significant genetic
structure was detected in all three species, although it was higher in P. microdon (F
ST = 0.811; N = 149) than in either P. clavata (F
ST = 0.419; N = 73) or P. zijsron (F
ST = 0.202; N = 49), possibly due to a much higher and/or localized level of female philopatry in P. microdon. The overall levels of haplotype diversity in P. zijsron (h = 0.555), P. clavata (h = 0.489), and P. microdon (h = 0.650) were moderate, although it appears to be reduced in the assemblages of P. zijsron and P. clavata in the Gulf of Carpentaria (h = 0.342 and h = 0.083, respectively). Since female migration (replenishment) between regions is unlikely, conservation plans should strive
to maintain current levels of diversity and abundances in the regional assemblages of each species. 相似文献
85.
Maritime spatial planning: opportunities &; challenges in the framework of the EU integrated maritime policy 总被引:1,自引:0,他引:1
In recent years, maritime spatial planning (MSP) has become an internationally emerging, promising tool for the implementation
of integrated ocean management. MSP provides the appropriate framework for public authorities and stakeholders to coordinate
their action across sectors and administrative boundaries, and to optimize the use of natural resources. In November 2008
the European Commission adopted the Communication “Roadmap for Maritime Spatial Planning: Achieving Common Principles in the
EU” (COM(2008) 791 final) aiming to facilitate the development of MSP by Member States and to stimulate its implementation
at national and EU level. Core element of this Roadmap is a set of ten key principles for MSP in Europe. Although endorsed
as valid and comprehensive, further discussion and research is needed to identify challenges, measures and tools for the key
principle’s practical application. This special issue of the Journal of Coastal Conservation: Planning and Management (JCCPM)
seeks to contribute to this discussion. Its purpose is to shed light from different angles on the various aspects of the mentioned
ten key principles and provide lessons learned from experience in different maritime areas around the world. Taking a more
scientific, rather than a political point of view, the following articles will debate the different principles, their practical
handling, as well as the consequences linked to their application. 相似文献
86.
A fundamental question of sexual selection theory concerns the causes and consequences of reproductive skew among males. The
priority of access (PoA) model (Altmann, Ann NY Acad Sci 102:338–435, 1962) has been the most influential framework in primates living in permanent, mixed-sex groups, but to date it has only been
tested with the appropriate data on female synchrony in a handful of species. In this paper, we used mating data from one
large semi-free ranging group of Barbary macaques: (1) to provide the first test of the priority-of-access model in this species,
using mating data from 11 sexually active females (including six females that were implanted with a hormonal contraceptive
but who showed levels of sexual activity comparable to those of naturally cycling females) and (2) to determine the proximate
mechanism(s) underlying male mating skew. Our results show that the fit of the observed distribution of matings with sexually
attractive females to predictions of the PoA model was poor, with lower-ranking males mating more than expected. While our
work confirms that female mating synchrony sets an upper limit to monopolization by high-ranking individuals, other factors
are also important. Coalitionary activity was the main tactic used by males to lower mating skew in the study group. Coalitions
were expressed in a strongly age-related fashion and allowed subordinate, post-prime males to increase their mating success
by targeting more dominant, prime males. Conversely, females, while mating promiscuously with several males during a given
mating cycle, were more likely to initiate their consortships with prime males, thus reducing the overall effectiveness of
coalitions. We conclude that high-ranking Barbary macaque males have a limited ability to monopolize mating access, leading
to a modest mating skew among them. 相似文献
87.
Melilotus Thyssen Beatriz Beker Dilek Ediger Doruk Yilmaz Nicole Garcia Michel Denis 《Environmental monitoring and assessment》2011,172(1-4):1-16
Present study was conducted in rapidly growing city Islamabad, and surface soils were collected from three major land cover types viz., built-up, drain side, and green areas. A total of seven physicochemical parameters and 11 metals were determined in surface soils. Factor analysis based on principal component analysis explained total variance of 68.0%, 64.5%, and 60.2% of three land cover types and showed high loadings for major elements (Mg and K) in built-up and green area and Fe in drain side. Top soil pollution index was carried out by using geo-accumulation index and metal pollution index (MPI6). Concentration of major elements (Ca, Mg, Na, K) in surface soils is derived by parent material, whereas concentration of Fe, Ni, Pb, and Zn were mainly related with anthropogenic sources. Geostatistical methods such as kirging identified hotspot areas of metal contamination by Pb, Ni, and Zn in built-up areas influenced mainly by vehicular emissions and waste disposal. The results stresses that land clearing should be avoided to reduce contamination and management of urban soils. 相似文献
88.
Christel Thauvin-Robinet Thierry Rousseau Christine Durand Nicole Laurent Catherine Maingueneau Laurence Faivre Paul Sagot Annie Nivelon-Chevallier 《黑龙江环境通报》2001,21(6):466-470
Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
89.
In many cases in which climate change affects natural resources, impacts are uncertain and adaptation to climate change often involves collective action problems at the local level, which are embedded in multilevel governance regimes. Adaptive management (AM) is an emerging approach to deal with such uncertainty and complexity by promoting multilevel institutions that are robust to change and able to learn. Much of the literature evaluating AM in multilevel governance regimes, however, focuses only on the adherence to certain structural features said to make AM successful, leaving aside the question whether AM actually produces desired outcomes. This paper evaluates AM in multilevel regimes also in terms of the outcomes they produce. To this end, we first apply the Management and Transition Framework (MTF) in order to describe three multilevel regimes in Lesotho. For each regime we then observe whether it adheres to the structure features of AM. Finally, we evaluate the extent to which the outcomes, natural resource management projects, are conducive to Ostrom's (1990) ‘design principles’ for sustainable common-pool resource management. We find that, though no ideal ‘adaptive regime’ is found in Lesotho, the results confirm the AM hypotheses that decentralised decision-making, open information sources, and plurality of user interests lead to improved outcomes. Conversely, elements of the climate regime are found not to be adaptive. Our findings also confirm the appropriateness of AM as a governance approach to climate adaptation. 相似文献
90.
Mbodji Mor Baskali-Bouregaa Nadia Bessueille Frédérique Faomowe-Foko Robert Fall Mamadou Gilon Nicole 《Environmental science and pollution research international》2022,29(18):26285-26296
Environmental Science and Pollution Research - In Senegal, processes employed for recycling e-wastes result in release of so-called heavy metals in the environment. In this study, the metal... 相似文献