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排序方式: 共有266条查询结果,搜索用时 15 毫秒
61.
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62.
Kamran Moradkhani Laurence Cuisset Pierre Boisseau Olivier Pichon Marine Lebrun Houda Hamdi-Rozé Marie-Laure Maurin Nicolas Gruchy Marie-Christine Manca-Pellissier Perrine Malzac Frédéric Bilan Marie-Pierre Audrezet Pascale Saugier-Veber Anne-Laure Fauret-Amsellem Chantal Missirian Paul Kuentz Gregory Egea Agnès Guichet Isabelle Creveaux Caroline Janel Ines Harzallah Renaud Touraine Carole Goumy Nicole Joyé Jacques Puechberty Emmanuelle Haquet Sandra Chantot-Bastaraud Sébastien Schmitt Philippe Gosset Bénédicte Duban-Bedu Bruno Delobel Philippe Vago François Vialard Denise Molina Gomes Jean-Pierre Siffroi Jean-Paul Bonnefont Jean-Michel Dupont Philippe Jonveaux Martine Doco-Fenzy Damien Sanlaville Cédric Le Caignec 《黑龙江环境通报》2019,39(11):986-992
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Beatrice Oneda Rosa Baldinger Regina Reissmann Irina Reshetnikova Pavel Krejci Rahim Masood Nicole Ochsenbein-Kölble Deborah Bartholdi Katharina Steindl Denise Morotti Marzia Faranda Alessandra Baumer Reza Asadollahi Pascal Joset Dunja Niedrist Christian Breymann Gundula Hebisch Margaret Hüsler René Mueller Elke Prentl Josef Wisser Roland Zimmermann Anita Rauch 《黑龙江环境通报》2014,34(6):525-533
65.
Mathilde Lefebvre Fabienne Dufernez Ange-Line Bruel Marie Gonzales Bernard Aral Judith Saint-Onge Nadège Gigot Julie Desir Caroline Daelemans Frédérique Jossic Sébastien Schmitt Raphaele Mangione Fanny Pelluard Catherine Vincent-Delorme Jean-Marc Labaune Nicole Bigi Dominique D'Olne Anne-Lise Delezoide Annick Toutain Sophie Blesson Valérie Cormier-Daire Julien Thevenon Salima El Chehadeh Alice Masurel-Paulet Nicole Joyé Claude Vibert-Guigue Luc Rigonnot Thierry Rousseau Pierre Vabres Philippe Hervé Antonin Lamazière Jean-Baptiste Rivière Laurence Faivre Nicole Laurent Christel Thauvin-Robinet 《黑龙江环境通报》2015,35(7):675-684
66.
Nicole R. Sikula James W. Mancillas Igor Linkov John A. McDonagh 《The Environmentalist》2015,35(2):219-228
The US government has focused considerable attention on enhancing our society’s ability to protect critical systems and services from disruptive events. Over the past decade, federal agencies have bolstered their efforts to identify and minimize threats using traditional risk-based approaches such as continuity of operations and disaster risk reduction processes. However, these valuable risk identification and management tools are limited because they rely upon foreseeable factor analyses of steady-state systems with predictable hazard frequencies and severities. In assessing the capability of complex adaptive systems to cope with disruptions, an overemphasis upon engineering resilience through risk management and planning for what is predictable may cloud or detract from our efforts to better understand a system’s emergent capabilities to withstand disruptions that are unforeseeable. This article contends that augmenting traditional risk approaches through the incorporation of methodologies grounded in socio-ecological system (SES) resilience principles offers a potential avenue for improving our agencies’ abilities to assess and manage both known and unknown risks. We offer a notional rationale for broadening our examination of system vulnerabilities and present a conceptual model that combines engineering and SES resilience paradigms to facilitate the identification, assessment, and management of system vulnerabilities. The Military Installation Resilience Assessment model described herein applies risk and resilience principles to evaluate whole systems, focusing on interconnections and their functionality in facilitating response and adaptation. 相似文献
67.
Negri A Burns K Boyle S Brinkman D Webster N 《Environmental pollution (Barking, Essex : 1987)》2006,143(3):456-467
This study examined the concentrations of total hydrocarbons (THC), polychlorinated biphenyls (PCB), polyaromatic hydrocarbons (PAH), and trace metals (Cu, Zn, Cd, Pb, Hg and As) in marine sediments off Scott Base (NZ) and compared them with sediments near the highly polluted McMurdo Station (US) as well as less impacted sites including Turtle Rock and Cape Evans. The Antarctic mollusc, Laternula elliptica and three common sponge species were also analysed for trace metals. The mean THC concentration in sediments from Scott Base was 3 fold higher than the pristine site, Turtle Rock, but 10 fold lower than samples from McMurdo Station. McMurdo Station sediments also contained the highest concentrations of PAHs, PCBs and the trace metals, Cu, Zn, Pb, Cd and Hg. Copper was significantly higher in bivalves from McMurdo Station than other sites. Trace metal concentrations in sponges were generally consistent within sites but no spatial patterns were apparent. 相似文献
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Eliza Kluckow Jane Halliday Alice Poulton Anthea Lindquist Briohny Hutchinson Michael Bethune Leonard Bonacquisto Fabricio Da Silva Costa Lucy Gugasyan James Harraway Amanda Howden Abhijit Kulkarni Nicole Martin Richard McCoy Melody Menezes Debbie Nisbet Ricardo Palma-Dias Mark D. Pertile Zeffie Poulakis Lisa Hui 《黑龙江环境通报》2019,39(13):1254-1261