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471.
Heli Routti Bert van Bavel Robert J. Letcher Augustine Arukwe Shaogang Chu Geir W. Gabrielsen 《Environmental pollution (Barking, Essex : 1987)》2009,157(8-9):2428-2434
The present study investigates the concentrations and patterns of organochlorine pesticides (OCPs) and their metabolites in liver and plasma of two ringed seal populations (Phoca hispida): lower contaminated Svalbard population and more contaminated Baltic Sea population. Among OCPs, p,p′-DDE and sum-chlordanes were the highest in concentration. With increasing hepatic contaminant concentrations and activities of xenobiotic-metabolizing enzymes, the concentrations of 3-methylsulfonyl-p,p′-DDE and the concentration ratios of pentachlorophenol/hexachlorobenzene increased, and the toxaphene pattern shifted more towards persistent Parlar-26 and -50 and less towards more biodegradable Parlar-44. Relative concentrations of the chlordane metabolites, oxychlordane and -heptachlorepoxide, to sum-chlordanes were higher in the seals from Svalbard compared to the seals from the Baltic, while the trend was opposite for cis- and trans-nonachlor. The observed differences in the OCP patterns in the seals from the two populations are probably related to the catalytic activity of xenobiotic-metabolizing enzymes, and also to differences in dietary exposure. 相似文献
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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478.
Maurike de Groot-van der Mooren Gert de Graaf Michel E Weijerman Mariette J. V Hoffer Jeroen Knijnenburg Anne-Marie M. F van der Kevie-Kersemaekers Angelique J. A Kooper Els Voorhoeve Birgit Sikkema-Raddatz Laura J. C. M van Zutven Malgorzata Ilona Srebniak Karin Huijsdens-van Amsterdam John J. M Engelen Dominique Smeets Anton H van Kaam Martina C Cornel 《黑龙江环境通报》2021,41(10):1351-1359
479.
Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd. 相似文献
480.
Verkerk Pieter J. Lindner Marcus Pérez-Soba Marta Paterson James S. Helming John Verburg Peter H. Kuemmerle Tobias Lotze-Campen Hermann Moiseyev Alexander Müller Daniel Popp Alexander Schulp Catharina J. E. Stürck Julia Tabeau Andrzej Wolfslehner Bernhard van der Zanden Emma H. 《Regional Environmental Change》2018,18(3):817-830
Regional Environmental Change - Plausible scenarios of future land use derived from model projections may differ substantially from what is actually desired by society, and identifying such... 相似文献