排序方式: 共有8条查询结果,搜索用时 15 毫秒
1
1.
C. Le Caignec N. Winer M. Boceno C. Delnatte G. Podevin J. M. Liet M. P. Quere M. Joubert J. M. Rival 《黑龙江环境通报》2003,23(12):981-984
We report the prenatal diagnosis of a fetus with sacrococcygeal teratoma and facial dysmorphism attributed to a constitutional terminal deletion of chromosome 7q and partial trisomy of chromosome 2p likely resulting from a de novo balanced translocation. The cytogenetic abnormality was diagnosed prenatally after sonographic detection of teratoma and confirmed on peripheral blood cells at birth. The newborn died of post-operative complications at seven days of age. FISH analysis demonstrated haploinsufficiency of HLXB9, a gene identified in the triad of a presacral mass (teratoma or anterior meningocele), sacral agenesis, and anorectal malformation, which constitutes the Currarino syndrome. Despite the absence of other features of the triad, the teratoma observed in the fetus we describe might represent a partial form of Currarino syndrome. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
2.
Johansson Clotilde Bataillard Philippe Biache Coralie Lorgeoux Catherine Colombano Stéfan Joubert Antoine Défarge Christian Faure Pierre 《Environmental science and pollution research international》2022,29(11):15966-15982
Environmental Science and Pollution Research - Permanganate is an oxidant usually applied for in situ soil remediation due to its persistence underground. It has already shown great efficiency for... 相似文献
3.
C. Le Caignec M. Boceno M. Joubert N. Winer F. Aubron C. Fallet-Bianco J. M. Rival 《黑龙江环境通报》2003,23(2):143-145
Marker or ring X [r(X)] chromosomes of varying size are often found in patients with Turner syndrome. Patients with very small r(X) chromosomes that did not include the X-inactivation locus (XIST) have been described with a more severe phenotype. Small r(X) chromosomes are rare in males and there are only five previous reports of such cases. We report the identification of a small supernumerary X chromosome in an abnormal male fetus. Cytogenetic analysis from chorionic villus sampling was performed because of fetal nuchal translucency thickness and it showed mosaicism 46,XY/47,XY,+r(X)/48,XY,+r(X),+r(X). Fluorescence in situ hybridizations (FISH) showed the marker to be of X-chromosome origin and not to contain the XIST locus. Additional specific probes showed that the r(X) included a euchromatic region in proximal Xq. At 20 weeks gestation, a second ultrasound examination revealed cerebral abnormalities. After genetic counselling, the pregnancy was terminated. The fetus we describe is the first male with a mosaic XIST-negative r(X) chromosome identified at prenatal diagnosis. The phenotype we observed was probably the result of functional disomy of the genes in the r(X) chromosome, secondary to loss of the XIST locus. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
4.
Hélène Duval Laurence Michel-Calemard Marie Gonzales Philippe Loget Claire Beneteau Annie Buenerd Madeleine Joubert Marielee Denis-Musquer Alix Clemenson Anne-Laure Chesnais Sophie Blesson Isabelle De Pinieux Anne-Lise Delezoide Gheorghe Bonyhay Christine Bellanné-Chantelot Laurence Heidet Florence Dupré Sophie Collardeau-Frachon 《黑龙江环境通报》2016,36(8):744-751
5.
Joubert AV Lucas L Garrido F Joulian C Jauzein M 《Environmental pollution (Barking, Essex : 1987)》2007,148(3):749-758
This study estimates the effect of environmental parameters on the mobility of four inorganic contaminants (As, Zn, Pb and Cd) in soils from three areas in the Ebro and Meuse River basins, within the context of global change. An experimental method, applicable to various soil systems, is used to measure the effect of four global-change-sensitive parameters (temperature, gas phase composition, pH and microbial activity). The aqueous phase of batch incubations was sampled regularly to monitor toxic element concentrations in water. Statistical processing enabled discrimination of the most relevant variations in dissolved concentrations measured at different incubation times and under different experimental conditions. Gas phase composition was identified as the most sensitive parameter for toxic element solubilization. This study confirms that total soil concentrations of inorganic pollutants are irrelevant when assessing the hazard for ecosystems or water resource quality. 相似文献
6.
Eugéne C. Joubert Thomas M. Harms Annethea Muller Martin Hipondoka Joh R. Henschel 《Environmental Fluid Mechanics》2012,12(1):23-44
In the Namib Desert seed distribution is greatly influenced by wind patterns. Existing literature regarding wind patterns
over dunes focuses on two-dimensional simulations of flow over simplified dune structures. The three-dimensional geometries
of the sand dunes suggests far more complex flow features exist, which are not captured by two-dimensional simulations. Computational
fluid dynamics (CFD) was used to reproduce the three-dimensional near surface wind patterns around a dune with the aim to
learn more about seed distribution. Field work included terrain mapping, wind speed, direction and temperature metering. The
CFD results show the expected two-dimensional flow features of high pressure at the dune toe, low pressure at the crest and
flow acceleration up windward slope. Also observed are some three-dimensional flow features such as a spiral vortex near the
crest and transverse flow due to crest-line curvature of the dune. It was also observed how the wall shear stress differs
due to the three-dimensional shape of the dune. The wall shear stress suggests that seed accumulation is more likely to occur
behind trailing (down-wind) crest edges. Particle tracking showed how seeds tend to move over the dune crest and recirculate
towards the crest on the lee-side. The study showed that adding the third dimension makes the simulations more complex, adds
to computational requirements and increases simulation time but also provides vital flow information which is not possible
with two-dimensional simulations. 相似文献
7.
Victor Bandaly Aurélie Joubert Pierre Le Cann Yves Andres 《Food and environmental virology》2017,9(4):464-472
One of the most important topics that occupy public health problems is the air quality. That is the reason why mechanical ventilation and air handling units (AHU) were imposed by the different governments in the collective or individual buildings. Many buildings create an artificial climate using heating, ventilation, and air-conditioning systems. Among the existing aerosols in the indoor air, we can distinguish the bioaerosol with biological nature such as bacteria, viruses, and fungi. Respiratory viral infections are a major public health issue because they are usually highly infective. We spend about 90% of our time in closed environments such as homes, workplaces, or transport. Some studies have shown that AHU contribute to the spread and transport of viral particles within buildings. The aim of this work is to study the characterization of viral bioaerosols in indoor environments and to understand the fate of mengovirus eukaryote RNA virus on glass fiber filter F7 used in AHU. In this study, a set-up close to reality of AHU system was used. The mengovirus aerosolized was characterized and measured with the electrical low pressure impact and the scanner mobility particle size and detected with RT-qPCR. The results about quantification and the level of infectivity of mengovirus on the filter and in the biosampler showed that mengovirus can pass through the filter and remain infectious upstream and downstream the system. Regarding the virus infectivity on the filter under a constant air flow, mengovirus was remained infectious during 10 h after aerosolization. 相似文献
8.
C. Le Caignec C. Gicquel M. C. Gubler C. Guyot M. C. You A. Laurent M. Joubert N. Winer A. David J. M. Rival 《黑龙江环境通报》2004,24(3):165-168
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome associated with congenital malformations and tumour predisposition. BWS results from variable mutations or epigenetic modifications of imprinted genes in the 11p15 chromosomal region. We present a fetus with mild general overgrowth and bilateral enlarged echogenic kidneys with loss of the corticomedullary differentiation in which prenatal diagnosis of BWS was suspected. The rest of the fetal anatomy and the amniotic fluid volume appeared normal. After termination of the pregnancy, molecular analysis confirmed the diagnosis of BWS by showing an isolated hypermethylation of the H19 gene. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
1