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Agnès Guichet Stéphane Triau Catherine Lépinard Chantal Esculapavit Florence Biquard Philippe Descamps Férechté Encha-Razavi Dominique Bonneau 《黑龙江环境通报》2004,24(10):828-832
We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
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Paper sludges were traditionally landfilled or burned. Over the years, the use of paper sludges on soils has increased, as well as the concerns about their environmental effects. Therefore, the chemical characterization of paper sludges and their young (immature) compost needed to be investigated, and over 150 inorganic and organic chemicals were analyzed in de-inking paper sludge (DPS). In general, nitrogen, phosphorus and potassium contents were low but variable in raw DPS and its young compost. The contents of arsenic, boron, cadmium, cobalt, chromium, manganese, mercury, molybdenum, nickel, lead, selenium, and zinc were also low and showed low variability. However, the copper contents were above the Canadian compost regulation for unrestricted use and required a follow-up. The fatty- and resin acids, and polycyclic aromatic hydrocarbons were the organic chemicals measured at the highest concentrations. For resinic acids, care should be taken to avoid that leachates reach aquatic life. For polycyclic aromatic hydrocarbons, naphthalene should be followed until soil content reaches 0.1 microg g(-1), the maximum allowed for soil use for agricultural purposes according to Canadian Environmental Quality Guidelines. In young compost, the concentration of these chemical families decreased over time and most compounds were below the detection limits after 24 weeks of composting. In raw DPS, among the phenol, halogenated and monoaromatic hydrocarbons, dioxin and furan, and polychlorinated biphenyl families, most compounds were below the detection limits. The raw DPS and its young compost do not represent a major threat for the environment but can require an environmental follow-up. 相似文献
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Sylvain Giroud Alina L. Evans Isabelle Chery Fabrice Bertile Georg Tascher Justine Bertrand-Michel Guillemette Gauquelin-Koch Jon M Arnemo Jon E. Swenson Etienne Lefai Stéphane Blanc Chantal Simon 《Die Naturwissenschaften》2018,105(9-10):58
Polyunsaturated fatty acids (PUFAs) exert several important functions across organ systems. During winter, hibernators divert PUFAs from oxidation, retaining them in their tissues and membranes, to ensure proper body functions at low body temperature. PUFAs are also precursors of eicosanoids with pro- and anti-inflammatory properties. This study investigated seasonal changes in eicosanoid metabolism of free-ranging brown bears (Ursus arctos). By using a lipidomic approach, we assessed (1) levels of specific omega-3 and omega-6 fatty acids involved in the eicosanoid cascade and (2) concentrations of eicosanoids in skeletal muscle and blood plasma of winter hibernating and summer active bears. We observed significant seasonal changes in the specific omega-3 and omega-6 precursors. We also found significant seasonal alterations of eicosanoid levels in both tissues. Concentrations of pro-inflammatory eicosanoids, such as thromboxane B2, 5-hydroxyeicosatetraenoic acid (HETE), and 15-HETE and 18-HETE, were significantly lower in muscle and/or plasma of hibernating bears compared to summer-active animals. Further, plasma and muscle levels of 5,6-epoxyeicosatrienoic acid (EET), as well as muscle concentration of 8,9-EET, tended to be lower in bears during winter hibernation vs. summer. We also found lower plasma levels of anti-inflammatory eicosanoids, such as 15dPGJ2 and PGE3, in bears during winter hibernation. Despite of the limited changes in omega-3 and omega-6 precursors, plasma and muscle concentrations of the products of all pathways decreased significantly, or remained unchanged, independent of their pro- or anti-inflammatory properties. These findings suggest that hibernation in bears is associated with a depressed state of the eicosanoid cascade. 相似文献
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Huijbers CM Nagelkerken I Lössbroek PA Schulten IE Siegenthaler A Holderied MW Simpson SD 《Ecology》2012,93(1):46-55
Habitat-specific cues play an important role in orientation for animals that move through a mosaic of habitats. Environmental cues can be imprinted upon during early life stages to guide later return to adult habitats, yet many species must orient toward suitable habitats without previous experience of the habitat. It is hypothesized that multiple sensory cues may enable animals to differentiate between habitats in a sequential order relevant to the spatial scales over which the different types of information are conveyed, but previous research, especially for marine organisms, has mainly focused on the use of single cues in isolation. In this study, we investigated novel habitat selection through the use of three different sensory modalities (hearing, vision, and olfaction). Our model species, the French grunt, Haemulon flavolineatum, is a mangrove/seagrass-associated reef fish species that makes several habitat transitions during early life. Using several in situ and ex situ experiments, we tested the response of fish toward auditory, olfactory, and visual cues from four different habitats (seagrass beds, mangroves, rubble, and coral reef). We identified receptivity to multiple sensory cues during the same life phase, and found that different cues induced different reactions toward the same habitat. For example, early-juvenile fish only responded to sound from coral reefs and to chemical cues from mangroves/seagrass beds, while visual cues of conspecifics overruled olfactory cues from mangrove/seagrass water. Mapping these preferences to the ecology of ontogenetic movements, our results suggest sequential cue use would indeed aid successful orientation to novel key habitats in early life. 相似文献
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The aim of this study was to obtain information about the degradation of t-butyl methyl ether (MTBE; (CH(3))(3)C-O-CH(3)) in atmospheric water droplets (rain, clouds, fog). These water droplets contain hydrogen peroxide and iron ions, which are a source of the powerful oxidising radical OH degrees, particularly under solar irradiation (photo-Fenton reaction). MTBE was chosen for this work because of its current use as an oxygenated additive in gasoline.In this study we found that MTBE is not stable in the atmosphere. More than 15 intermediate products were identified, five of which were quantified (t-butyl formate (TBF), methyl acetate (MA), t-butyl alcohol (TBA), acetone (AC), formaldehyde). The evaluation of the disappearance kinetic of the main intermediate compounds shows the following activity pattern k((TBA))>k((MTBE))>k((TBF)),k>((AC)). Acetone was found to be about 15 times more stable than MTBE in atmospheric conditions. The degradation pathways are discussed on the basis of these identifications and on the degradation of the main intermediate products in similar conditions to MTBE. 相似文献
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Difference in dummy responses in matched side impact tests of vehicles with and without side airbags
Objective: Insurance Institute for Highway Safety (IIHS) high-hooded side impacts were analyzed for matched vehicle tests with and without side airbags. The comparison provides a measure of the effectiveness of side airbags in reducing biomechanical responses for near-side occupants struck by trucks, SUVs, and vans at 50 km/h.Method: The IIHS moving deformable barrier (MDB) uses a high-hooded barrier face. It weighs 1,500 kg and impacts the driver side perpendicular to the vehicle at 50 km/h. SID IIs dummies are placed in the driver and left second-row seats. They represent fifth percentile female occupants.IIHS tests were reviewed for matches with one test with a side airbag and another without it in 2003–2007 model year (MY) vehicles. Four side airbag systems were evaluated: (1) curtain and torso side airbags, (2) head and torso side airbag, (3) curtain side airbag, and (4) torso side airbag.There were 24 matched IIHS vehicle tests: 13 with and without a curtain and torso side airbags, 4 with and without a head and torso side airbag, 5 with and without a side curtain airbag, and 2 with and without a torso airbag. The head, chest, and pelvis responses were compared for each match and the average difference was determined across all matches for a type of side airbag.Results: The average reduction in head injury criterion (HIC) was 68 ± 16% (P < .001) with curtain and torso side airbags compared to the HIC without side airbags. The average HIC was 296 with curtain and torso side airbags and 1,199 without them. The viscous response (VC) was reduced 54 ± 19% (P < .005) with curtain and torso side airbags. The combined acetabulum and ilium force (7 ± 15%) and pelvic acceleration (?2 ± 17%) were essentially similar in the matched tests.The head and torso side airbag reduced HIC by 42 ± 30% (P < .1) and VC by 32 ± 26% compared to vehicles without a side airbag. The average HIC was 397 with the side head and torso airbag compared to 729 without it. The curtain airbag and torso airbag only showed lower head responses but essentially no difference in the chest and pelvis responses.Conclusion: The curtain and torso side airbags effectively reduced biomechanical responses for the head and chest in 50 km/h side impacts with a high-hooded deformable barrier. The reductions in the IIHS tests are directionally the same as estimated fatality reductions in field crashes reported by NHTSA for side airbags. 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19.
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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