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Journal of Material Cycles and Waste Management - Owing to various advantages of artificial marble compared to natural marble, its application has been rising exponentially, which has resulted in...  相似文献   
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A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
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Diadromous fish often enter freshwater directly from seawater via fish ladders or channels built in estuarine dams. The oxygen consumption rates (OCR) of glass eel, Anguilla japonica, were determined using an automatic intermittent flow respirometer under various salinity and temperature regimes to physiologically explain this direct movement. The endogenous rhythm of the OCR in wild glass eels, freshly collected from estuaries, was nearly synchronous with the tidal pattern at the estuarine collection site. When the salinity was changed from 20 psu (12°C) at a constant temperature to that of freshwater, the OCR of the glass eels decreased by 21.6±7.0% (mean ± SD) (P<0.05), showing a dampened rhythm for about 48 h. After this period of impediment, the glass eels resumed normal metabolic activity. Direct migration from seawater to freshwater under constant temperature would result in a severe physiological stress for these glass eels for about two days. When the glass eels were exposed to a cyclic change in water temperature of 2°C 26 h−1, as they encounter in estuaries, and then were introduced to freshwater abruptly, the OCR rhythm corresponded to the cyclic changes in water temperature after exposure to freshwater. Under these conditions, the mean OCR of the glass eels had a small difference before and after exposure to freshwater. These data explained how glass eels can directly move from sea water into the freshwater without any apparent metabolic stress in the estuaries showing cyclic change in water temperature (Δt=2°C).  相似文献   
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