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We report a Japanese boy who died at Day 28 of life because of severe carbamoyl phosphate synthetase I (CPS1) deficiency that was proven by enzyme assay. By analysis of cDNA and genomic DNA, he was shown to be a compound heterozygote with two point mutations of the CPS1 gene, 840G>C leading to an aberrant splicing and 1123C>T (predicting Q375X). The 840G>C was a mutation described in another Japanese family. Since his parents carried each mutation heterozygously, we performed prenatal diagnosis at 16 weeks of his mother's next gestation by multiplex PCR and melting curve analysis in a single capillary containing two-color fluorescent (LC-Red 640 and LC-Red 705) probes on LightCycler. We analyzed genomic DNA extracted from amniotic cells and found that the fetus was homozygous for the wild-type alleles. At term a healthy girl was born without hyperammonemia. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
43.
Temporal trends of non-sea salt (nss-) sulfate and nitrate were analyzed from nationwide precipitation chemistry measurements provided by the Ministry of the Environment (MOE) for the 1988–2002 fiscal years (April–March). The concentrations and deposition of nss-sulfate were found to be decreasing, and those of nitrate were stable or slightly increasing at most sites. These deposition trends were discussed from the viewpoint of emissions of SO2 and NOX during the period of interest. Because monitoring techniques have changed in the number of active sites, samplers, and analytical methods during the operation period, the median of all annual depositions measured in Japan in a specific year was selected as the annual representative. The contribution of specific emission sources was also calculated for 1990 on the basis of the nss-sulfate and nitrate deposition in Japan obtained with a model simulation in which the model did not include volcanic emissions from Mt. Oyama, Miyakejima Island, which began to erupt suddenly and violently in 2000. For nss-sulfate, the calculated deposition agrees well with the intensity and trends of the median up to 1999. After 2000, a higher deposition than calculated in the preceding years was evident, which is attributable to the volcanic SO2 from Mt. Oyama. For nitrate, both the calculated and observed depositions were slightly increasing; however, the calculation was found to exceed the observation.  相似文献   
44.
Mt. Sakurajima is a volcanic island in Japan, and a big city, Kagoshima, is quite close to the active volcano. Samples of volcanic ash fall erupted from Mt. Sakurajima were collected at several locations in Kagoshima City and analyzed for Hg and other elements, including major (Mg, Al, Ca, and Fe) and trace elements (V, Cr, Mn, Co, Ni, Zn, As, and Pb). The concentrations of Hg varied from 6.3 to 124 ng g?1, with the amounts of ash varying from 13 to 1230 g m?2 month?1. The Hg concentrations tended to be higher when the monthly amounts of ash fall were lower; other elements did not show such a tendency.  相似文献   
45.
The present study aimed to investigate the NH3 volatilization loss from field-applied compost and chemical fertilizer and evaluate the atmosphere–land exchange of NH3 and particulate NH4+ (pNH4) at an upland field with volcanic ash soil (Andosol) in Hokkaido, northern Japan. Two-step basal fertilization was conducted on the bare soil surface. First, a moderately fermented compost of cattle manure was applied by surface incorporation (mixing depth, 0–15 cm) at a rate of 117 kg N ha−1 as total nitrogen (T-N) corresponding to 9.9 kg N ha−1 as ammoniacal nitrogen (NH4–N). Twelve days later, a chemical fertilizer containing 10% (w/w) of NH4–N as a mixture of ammonium sulfate and ammonium phosphates was applied by row placement (cover depth, 3 cm) at a rate of 100 kg N ha−1 as NH4–N. The study period was divided into the first-half, beginning after the compost application (CCM period), and the second-half, beginning after the chemical fertilizer application (CF period). The mean air concentrations of NH3 and pNH4 (1.5 m height) were 7.6 and 3.0 μg N m−3, respectively, in the CCM period; the values were 3.7 and 3.9 μg N m−3, respectively, in the CF period. The composition ratios of NH3 to the sum of NH3 and pNH4 (1.5 m height) were 72% and 49% in the CCM and CF periods, respectively. The NH3 volatilization loss from the compost was 0.8% of the applied T-N (or 9.3% of the applied NH4–N) and that from the chemical fertilizer was near zero. Excluding the period immediately after the compost application, the upland field acted as a net sink for NH3 and pNH4.  相似文献   
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