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Thierry Rousseau Nicole Laurent Christel Thauvin-Robinet Stéphanie Lionnais Christine Durand Laurence Faivre Paul Sagot 《黑龙江环境通报》2002,22(8):692-696
Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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Stéphanie Couvreur-Lionnais Thierry Rousseau Nicole Laurent Christel Thauvin-Robinet Eve Senet-Lacombe Anne Lise Delezoïde Francine Mugneret Christine Durand Laurence Faivre Paul Sagot 《黑龙江环境通报》2005,25(2):172-175
Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
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Sulphate, Nitrogen and Base Cation Budgets at 21 Forested Catchments in Canada, the United States and Europe 总被引:1,自引:0,他引:1
Watmough SA Aherne J Alewell C Arp P Bailey S Clair T Dillon P Duchesne L Eimers C Fernandez I Foster N Larssen T Miller E Mitchell M Page S 《Environmental monitoring and assessment》2005,109(1-3):1-36
To assess the concern over declining base cation levels in forest soils caused by acid deposition, input-output budgets (1990s
average) for sulphate (SO4), inorganic nitrogen (NO3-N; NH4-N), calcium (Ca), magnesium (Mg) and potassium (K) were synthesised for 21 forested catchments from 17 regions in Canada,
the United States and Europe. Trend analysis was conducted on monthly ion concentrations in deposition and runoff when more
than 9 years of data were available (14 regions, 17 sites). Annual average SO4 deposition during the 1990s ranged between 7.3 and 28.4 kg ha−1 per year, and inorganic nitrogen (N) deposition was between 2.8 and 13.8 kg ha−1 per year, of which 41–67% was nitrate (NO3-N). Over the period of record, SO4 concentration in deposition decreased in 13/14 (13 out of 14 total) regions and SO4 in runoff decreased at 14/17 catchments. In contrast, NO3-N concentrations in deposition decreased in only 1/14 regions, while NH4-N concentration patterns varied; increasing at 3/14 regions and decreasing at 2/14 regions. Nitrate concentrations in runoff
decreased at 4/17 catchments and increased at only 1 site, whereas runoff levels of NH4-N increased at 5/17 catchments. Decreasing trends in deposition were also recorded for Ca, Mg, and K at many of the catchments
and on an equivalent basis, accounted for up to 131% (median 22%) of the decrease in acid anion deposition. Base cation concentrations
in streams generally declined over time, with significant decreases in Ca, Mg and K occurring at 8, 9 and 7 of 17 sites respectively,
which accounted for up to 133% (median 48%) of the decrease in acid anion concentration. Sulphate export exceeded input at
18/21 catchments, likely due to dry deposition and/or internal sources. The majority of N in deposition (31–100%; median 94%)
was retained in the catchments, although there was a tendency for greater NO3-N leaching at sites receiving higher (<7 kg ha-1 per year) bulk inorganic N deposition. Mass balance calculations show that export of Ca and Mg in runoff exceeds input at
all 21 catchments, but K export only exceeds input at 16/21 sites. Estimates of base cation weathering were available for
18 sites. When included in the mass balance calculation, Ca, Mg and K exports exceeded inputs at 14, 10 and 2 sites respectively.
Annual Ca and Mg losses represent appreciable proportions of the current exchangeable soil Ca and Mg pools, although losses
at some of the sites likely occur from weathering reactions beneath the rooting zone and there is considerable uncertainty
associated with mineral weathering estimates. Critical loads for sulphur (S) and N, using a critical base cation to aluminium
ratio of 10 in soil solution, are currently exceeded at 7 of the 18 sites with base cation weathering estimates. Despite reductions
in SO4 and H+ deposition, mass balance estimates indicate that acid deposition continues to acidify soils in many regions with losses of
Ca and Mg of primary concern.
The U.S. Government's right to retain a non-exclusive, royalty free licence in and to any copyright is acknowledged.
The Canadian Crown reserves the right to retain a non-exclusive, royalty free licence in and to any copyright. 相似文献
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The Science of Nature - 相似文献
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