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排序方式: 共有94条查询结果,搜索用时 15 毫秒
31.
Chantal Deden Kornelia Neveling Dimitra Zafeiropopoulou Christian Gilissen Rolph Pfundt Tuula Rinne Nicole de Leeuw Brigitte Faas Thatjana Gardeitchik Suzanne C. E. H. Sallevelt Aimee Paulussen Servi J. C. Stevens Esther Sikkel Mariet W. Elting Merel C. van Maarle Karin E. M. Diderich Nicole Corsten-Janssen Klaske D. Lichtenbelt Guus Lachmeijer Lisenka E. L. M. Vissers Helger G. Yntema Marcel Nelen Ilse Feenstra Wendy A. G. van Zelst-Stams 《黑龙江环境通报》2020,40(8):972-983
Objective
The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.Methods
In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7).Results
A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases.Conclusions
These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making. 相似文献32.
33.
Dick Oepkes G. C. Page-Christiaens Caroline J. Bax Mireille N. Bekker Catia M. Bilardo Elles M. J. Boon G. Heleen Schuring-Blom Audrey B. C. Coumans Brigitte H. Faas Robert-Jan H. Galjaard Attie T. Go Lidewij Henneman Merryn V. E. Macville Eva Pajkrt Ron F. Suijkerbuijk Karin Huijsdens-van Amsterdam Diane Van Opstal E. J. Verweij Marjan M. Weiss Erik A. Sistermans and for the Dutch NIPT Consortium 《黑龙江环境通报》2016,36(12):1083-1090
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Céline Dupont Francesca Romana Grati Kwong Wai Choy Sylvie Jaillard Jérôme Toutain Marie-Laure Maurin Jose Antonio Martínez-Conejero Claire Beneteau Aurélie Coussement Denise Molina-Gomes Nina Horelli-Kuitunen Azzedine Aboura Anne-Claude Tabet Justine Besseau-Ayasse Bettina Bessieres-Grattagliano Giuseppe Simoni Gustavo Ayala Brigitte Benzacken François Vialard 《黑龙江环境通报》2015,35(1):35-43
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Filoviruses are enveloped, nonsegmented negative-stranded RNA viruses. The two species, Marburg and Ebola virus, are serologically, biochemically, and genetically distinct. Marburg virus was first isolated during an outbreak in Europe in 1967, and Ebola virus emerged in 1976 as the causative agent of two simultaneous outbreaks in southern Sudan and northern Zaire. Although the main route of infection is known to be person-to-person transmission by intimate contact, the natural reservoir for filoviruses still remains a mystery. 相似文献
39.
Theofano Vetouli Vonne Lund Brigitte Kaufmann 《Journal of Agricultural and Environmental Ethics》2012,25(3):349-364
In organic philosophy, the concept of “naturalness” is of major importance. According to the organic interpretation of animal welfare, natural living is considered a precondition for accomplishing welfare and the principal aims of organic production include the provision of natural living conditions for animals. However, respective regulations are lacking in organic legislation. In practice, the life of a calf in organic rearing systems can deviate from being natural, since common practices in dairy farms include early weaning, dehorning, or cow-calf separation soon after birth. This case study explores how calf welfare is approached in six different organic dairy farms and how far the concept of naturalness is implemented. The farms included in this study were located in Norway and Sweden. A semi-structured questionnaire was used for data collection. The interviewed farmers approach the concept of welfare in various ways and state that “naturalness” is an aspect of animal welfare. However, in practice in the calf rearing systems under study, only a few “naturalness” aspects were implemented. Reasons for the observed discrepancy might lie in differing understandings of “naturalness,” in economic restrictions, and in other trade-offs resulting from production system inherent characteristics and in limited regulation concerning provision of natural living aspects. 相似文献
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