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The first prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.  相似文献   
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A woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture medium and incubated for 72 h. Slides with a high mitotic index and good quality metaphases, comparable to those from a blood culture, were obtained after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY,—14,+t(13ql4q), which is consistent with Patau's syndrome. This technique appears to be an option for rapid karyotyping in cases of abdominal wall defect, where a chromosomal abnormality is suspected.  相似文献   
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Background, aim, and scope

Olive oil mill wastewater (OMW), a by-product of the olive oil extraction process, is annually produced in huge amounts in olive-growing areas and represents a significant environmental problem in Mediterranean areas. We studied the impact of OMW dilutions (1:20 and 1:10) on spinach plants in order to evaluate OMW dilutions as a low-cost alternative method for the disposal of this waste.

Materials and methods

The effects of OMW dilutions were evaluated on seed germination, shoot and root elongation, biomass production, nutrient uptake and translocation, ascorbic acid content, polyphenols, photosynthetic pigments, and photosynthetic performance of spinach.

Results

Plant biomass was more affected than plant height and total chlorophyll; carotenoid and ascorbic acid content progressively decreased with decreasing OMW dilution. Exposure to both OMW dilutions resulted in overaccumulation of total polyphenols, which were negatively correlated to plant biomass and nutrients. Nutrient (Fe, Ca, and Mg) content was insufficient leading to reduced growth. Water use efficiency decreased mainly due to decreased CO2 assimilation rate rather than to a decline of transpiration rate. Disturbances in photosystem II (PSII) photochemical efficiency could be better envisaged by the ratio between variable fluorescence and initial fluorescence (Fv/Fo), which showed much greater amplitude than the maximal photochemical efficiency of PSII photochemistry (Fv/Fm).

Conclusions

From the data obtained, it is suggested that 1:20 OMW dilutions are still phytotoxic and that higher OMW dilutions should be used in order to use this waste for the irrigation of spinach plants.  相似文献   
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Few studies exist on how chloride from chloride‐based deicers is transported in infiltration‐based stormwater control measures. In 2009, the U.S. Environmental Protection Agency (USEPA) constructed a 0.4 ha parking lot in Edison, New Jersey, that was surfaced with permeable interlocking concrete pavers (PICP), pervious concrete (PC), and porous asphalt (PA). Each surface type has four equally sized, lined sections that direct all infiltrate to separate 5.7 m3 collection tanks. The USEPA acute criterion for aquatic life (860 mg/l) was exceeded in events immediately following a snow event. Concentrations of the infiltrate exceeded the detection limit (5 mg/l) year round but did not exceed the USEPA chronic toxicity (230 mg/l) after April. The chloride concentration decreased with cumulative rainfall since previous snow event, and a power regression described this relationship. In the power regression, the coefficient (b) described the initial concentration following a snow event, and the exponent (m) described the rate in which chloride was flushed through the system with infiltrating water. PC had the largest coefficient (5,664) and largest absolute exponent (?0.92), followed closely by PICP (= 4,943 and = ?0.87), and distantly by PA (= 2,907 and = ?0.67). The differences in release rate were proportional to the measured surface infiltration rates of 4,000; 2,400; and 200 cm/h for PC, PICP, and PA, respectively. These results will assist those who manage or regulate stormwater where receiving waters are chloride impaired.  相似文献   
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