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排序方式: 共有100条查询结果,搜索用时 31 毫秒
31.
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32.
33.
Sonja E. Koski 《Behavioral ecology and sociobiology》2011,65(11):2161-2174
Animals of many species show consistency in behaviour across time and contexts that differs from other individuals' behaviour
in the same population. Such ‘personality’ affects fitness and has therefore become an increasingly relevant research topic
in biology. However, consistent variation in social behaviour is understudied. In socially living species, behaviour occurs
in a social environment and social interactions have a significant influence on individual fitness. This study addressed personality
in social behaviour of 75 captive chimpanzees in three zoos by coding observed behaviour. Fifteen behavioural variables were
significantly repeatable (range 0.21–0.93) in at least two of the three zoos. The behaviours showed considerable long-term
stability across 3 years, which did not differ from the short-term repeatability. The repeatable behaviours were then analysed
with factor analyses. They formed five independent factors, three of which consisted of social traits and were labelled ‘sociability’,
‘positive affect’ and ‘equitability’. The two non-social behaviour factors were labelled ‘anxiety’ and ‘activity’. The factor
scores were analysed for sex and population differences. Males had higher factor scores in all traits except ‘sociability’.
The factor scores differed also between the zoos, implying considerable external effects in trait expression. The results
show that chimpanzees show personality in a broad range of social and non-social behaviours. The study highlights the importance
of assessing personality in the social behaviour, especially in cohesive social species, as only then can we understand the
consequences of personality in socially living species. 相似文献
34.
35.
Tanja Stanić Aleksandra Daković Aleksandar Živanović Magdalena Tomašević-Čanović Vera Dondur Sonja Milićević 《Environmental Chemistry Letters》2009,7(2):161-166
Adsorption of arsenic (V) by natural zeolitic tuff, modified with iron (III), was investigated. Also, the iron (III) adsorption
characteristics by natural zeolitic tuff was evaluated. It was determined that iron (III) adsorption by starting zeolitic
tuff was best represented by the Freundlich type of isotherm, having correlation coefficient (r
2) of 0.990. Arsenic (V) adsorption by iron (III)-modified zeolitic tuff followed a nonlinear type of isotherm. The best fit
of the experimental data was obtained using the Langmuir–Freundlich model (r
2 = 0.99), with the estimated maximum of arsenic (V) adsorption to iron (III)-modified zeolitic tuff of 1.55 mg/g. 相似文献
36.
Sonja Ayeb-Karlsson Kees van der Geest Istiakh Ahmed Saleemul Huq Koko Warner 《Sustainability Science》2016,11(4):679-694
The Ganges–Brahmaputra delta enables Bangladesh to sustain a dense population, but it also exposes people to natural hazards. This article presents findings from the Gibika project, which researches livelihood resilience in seven study sites across Bangladesh. This study aims to understand how people in the study sites build resilience against environmental stresses, such as cyclones, floods, riverbank erosion, and drought, and in what ways their strategies sometimes fail. The article applies a new methodology for studying people’s decision making in risk-prone environments: the personal Livelihood History interviews (N = 28). The findings show how environmental stress, shocks, and disturbances affect people’s livelihood resilience and why adaptation measures can be unsuccessful. Floods, riverbank erosion, and droughts cause damage to agricultural lands, crops, houses, and properties. People manage to adapt by modifying their agricultural practices, switching to alternative livelihoods, or using migration as an adaptive strategy. In the coastal study sites, cyclones are a severe hazard. The study reveals that when a cyclone approaches, people sometimes choose not to evacuate: they put their lives at risk to protect their livelihoods and properties. Future policy and adaptation planning must use lessons learned from people currently facing environmental stress and shocks. 相似文献
37.
Achim Elfering Sonja Cronenberg Simone Grebner Oezguer Tamcan Urs Müller 《International journal of occupational safety and ergonomics》2019,25(1):17-26
Purpose. A newly developed questionnaire assessing limitations in activity of daily living (LADL–Q) that should improve assessment of LADL is tested in a large population-based validation study. Methods. This survey was paper-based. Overall, 16,634 individuals who were representative of the working population in the German-speaking part of Switzerland participated in the study. Item analysis was used the final version of the LADL–Q to four items per subscale that correspond to potential problems in three body regions (back and neck, upper extremities, lower extremities). Analysis included tests for reliability, internal consistency, dimensionality and convergent validity. Results. Test–retest reliability coefficients after 2 weeks ranged from 0.82 to 0.99 (Mdn?=?0.87), with no item having a coefficient below 0.60. The median item-total coefficients ranged between moderate and good. Correlation coefficients between LADL–Q subscales and three validated clinical instruments (Western Ontario and McMaster Universities osteoarthritis index, shoulder pain disability index, Oswestry) ranged from 0.63 to 0.81. In structural equation modeling the three subscales were significantly related with two important outcomes in occupational rehabilitation: self-reported general health and daily task performance. Conclusion. The new LADL–Q is a brief, reliable and valid tool for assessment of LADL in studies on musculoskeletal health. 相似文献
38.
Stojanović Branislav Janković Saša Đorđević Vesna Marjanović Sonja Vasilev Dragan Stojanović Zdenka Balaban Milica Antić Vesna 《Environmental science and pollution research international》2021,28(35):48330-48342
Environmental Science and Pollution Research - This work aimed to examine the influence of the storage period on the content of toxic elements (As, Cd, Hg, and Pb) in five types of canned meat... 相似文献
39.
Sonja Ayeb‐Karlsson Dominic Kniveton Terry Cannon Kees van der Geest Istiakh Ahmed Erin M. Derrington Ebinezer Florano Denis Opiyo Opondo 《Disasters》2019,43(4):752-770
While much work has been invested in addressing the economic and technical basis of disaster preparedness, less effort has been directed towards understanding the cultural and social obstacles to and opportunities for disaster risk reduction. This paper presents local insights from five different national settings into the cultural and social contexts of disaster preparedness. In most cases, an early warning system was in place, but it failed to alert people to diverse environmental shocks. The research findings show that despite geographical and typological differences in these locations, the limitations of the systems were fairly similar. In Kenya, people received warnings, but from contradictory systems, whereas in the Philippines and on the island of Saipan, people did not understand the messages or take them seriously. In Bangladesh and Nepal, however, a deeper cultural and religious reasoning serves to explain disasters, and how to prevent them or find safety when they strike. 相似文献
40.
It is accepted that if fisheries resources are to remain renewable and able to sustain livelihoods, appropriate management practices must be implemented. Even while fisheries management grapples to resolve single-species issues, the biological and economic interactions among species mandate that to be effective, management techniques must be based on more interactive and aggregate-level analyses. In order to implement these techniques, the actual links, and the potential impact of these links, among the fisheries must be established. Vector autoregression (VAR) analysis has the potential to play an increasingly important role in ecosystem modelling for fisheries management. This study uses VAR analysis to demonstrate the quantitative impact of certain ecosystem changes on the productivity of the carite, honey shrimp and croaker fisheries of the Gulf of Paria, Trinidad, in the particular context of the ecosystem dynamics of trophic linkages, bycatch and multispecies fisheries. Four VAR models are constructed to investigate the extent to which these factors affect the production of the selected fisheries, and to evaluate the management implications of these linkages. The empirical analysis is further evidence that, if sustainable management of fishery resources is to be achieved, management practices based on more multi-species, ecosystem approaches must replace the traditional, single-species management techniques. 相似文献