Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging

A case of fetal autosomal dominant microcephaly was prenatally diagnosed with ultrasonography in a woman with previously undiagnosed microcephaly. At the time of initial ultrasonographic assessment, the mother was identified to have a markedly small cranium, consistent with maternal microcephaly. The ultrasonographic examination showed the fetal head size to be four standard deviations below the mean for gestational age. Gesta-tional dating from the other biometric parameters and from the last menstrual period was consistent with 31 weeks' gestation. Neurosonographic evaluation of the fetus revealed no obvious structural abnormalities. Serial ultrasonographic examinations at 35 and 38 weeks' gestation showed no changes in the fetal head size. A 2·64 kg male fetus was delivered at term. Neonatal assessment showed the fetal head circumference to be less than the second percentile for gestational age. Neurologic assessment of the neonate with magnetic resonance imaging showed abnormal development of the brain, with small cerebellar and cerebral hemispheres, and pachygyria. These images are compared with the magnetic resonance images of the mother. Our findings of maternal and fetal microcephaly are consistent with autosomal dominant microcephaly. To our knowledge, this is the first report of the prenatal diagnosis of autosomal dominant microcephaly.     

Adverse perinatal outcome in patients screen-positive for neural tube defects and fetal down syndrome

An association between various abnormal mid-trimester maternal serum analyte values and adverse perinatal outcome has been reported. From an original sample of 14 857 women, we observed five women who were ‘screen-positive’ for both neural tube defects [maternal serum alpha-fetoprotein (MSAFP) ≥2·5 multiples of the median] and Down syndrome [risk ≥1/274 using MSAFP, maternal serum unconjugated oestriol (MSuE3), maternal serum human chorionic gonadotropin (MShCG), and maternal age]. The four patients who elected to undergo amniocentesis all demonstrated both normal karyotype and normal amniotic fluid AFP levels. All five cases were associated with intrauterine growth retardation (IUGR) and abnormal pregnancy outcomes. Two cases exhibiting severe IUGR on ultrasound examination were terminated at 19·1 and 21·2 weeks, respectively; the former also exhibited fetal calcifications and positive maternal serology for toxoplasmosis. In another case, fetal demise occurred at 36 weeks' gestation in a patient who had been treated for syphilis in the second trimester. Neither infection was confirmed in fetal tissue studies. Though resulting in live births, the remaining two cases required operative deliveries; emergency Caesarean sections for fetal distress were performed at 38 and 32 weeks, respectively, the latter case being associated with severe pre-eclampsia. We conclude that elevated mid-trimester MSAFP levels concurrent with maternal serum analyte values associated with increased risk for fetal Down syndrome may presage a poor perinatal outcome, particularly IUGR and possibly congenital infection.     

Catalytic reduction of NO on copper/MCM-41 studied by in situ EXAFS and XANES

Speciation of copper in the channels of MCM-41 during reduction of NO with CO at 473-773 K was studied by in situ extended X-ray absorption fine structural (EXAFS) and X-ray absorption near edge structural (XANES) spectroscopies in the present work. The component fitted (in situ) XANES spectra of the catalyst showed that about 72% of metallic copper (Cu(0)) in MCM-41 was oxidized to higher oxidation state coppers (Cu(II) (46%) and Cu(I) (26%)) during the NO reduction process (at 473 K). By EXAFS, we also found that in the NO reduction process, oxygen was inserted into the metallic copper matrix and led to a formation of the copper oxide species with a Cu-O bond distance of 1.93 A which was greater than that of the model compound Cu(2)O (typically 1.86 A). At 573-673 K, mainly Cu(II) was found in the channels of MCM-41. Nevertheless, at a higher temperature (e.g., 773 K), about 61% Cu(I), 31% Cu(II), and 8% Cu(O) with averaged Cu-Cu and Cu-O bond distances of 3.04 and 1.88 A, respectively were observed, that might account for the high selectivity-to-decomposition (S/D) ratios for yields of N(2) and CO(2) in the catalytic reduction of NO with CO.     

Comparative uptake of plutonium from soils by Brassica juncea and Helianthus annuus

Plutonium uptake by Brassica juncea (Indian mustard) and Helianthus annuus (sunflower) from soils with varying chemical composition and contaminated with Pu complexes (Pu-nitrate [239Pu(NO3)4], Pu-citrate [239Pu(C6H5O7)], and Pu-diethylenetriaminepentaacetic acid (Pu-DTPA [239Pu-C14H23O10N3]) was investigated. Sequential extraction of soils incubated with applied Pu was used to determine the distribution of Pu in the various soil fractions. The initial Pu activity levels in soils were 44.40-231.25 Bq g(-1) as Pu-nitrate Pu-citrate, or Pu-DTPA. A difference in Pu uptake between treatments of Pu-nitrate and Pu-citrate without chelating agent was observed only with Indian mustard in acidic Crowley soil. The uptake of Pu by plants was increased with increasing DTPA rates, however, the Pu concentration of plants was not proportionally increased with increasing application rate of Pu to soil. Plutonium uptake from Pu-DTPA was significantly higher from the acid Crowley soil than from the calcareous Weswood soil. The uptake of Pu from the soils was higher in Indian mustard than in sunflower. Sequential extraction of Pu showed that the ion-exchangeable Pu fraction in soils was dramatically increased with DTPA treatment and decreased with time of incubation. Extractability of Pu in all fractions was not different when Pu-nitrate and Pu-citrate were applied to the same soil. More Pu was associated with the residual Pu fraction without DTPA application. Consistent trends with time of incubation for other fractions were not apparent. The ion-exchangeable fraction, assumed as plant-available Pu, was significantly higher in acid soil compared with calcareous soil with or without DTPA treatment. When the calcareous soil was treated with DTPA, the ion-exchangeable Pu was comparatively less influenced. This fraction in the soil was more affected with time of incubation. The lowest extractable Pu was from a pH 6.55 Crockett soil that contained the highest clay compared to the other two soils. Extractable soil Pu was largely affected by soil pH and the amounts of clay, salt, metal oxide, and carbonate.     

Observations of aerosol-bound ionic compositions at Cheju Island,Korea

To investigate the regional cycle of aerosols and their ionic constituents, three field intensive campaigns were conducted during fall and winter of 1997 and spring of 1998. The concentrations of most ionic species were found to decrease significantly across fall, winter, and spring such that the sum for all cation (and anion) species of each season is computed as: 193 > 96 > 73.7 nequiv m(-3) (and 240 > 104 > 51.5 nequiv m(-3)). To examine the fundamental characteristics of aerosol compositions in the study area, we conducted correlation analysis in various manners. The results indicated that the concentrations of major ionic species were strongly affected by some meteorological parameters including wind speed. It was also seen that relative strengths of correlations between important parameters (e.g., between wind speed and most of major inorganic species) maintain close relationships with the factors associated with the air mass origin. In addition, the results of factor analysis indicated the existence of at least three major sources in the study area which include: sea-salt aerosol, secondary aerosol, and organic aerosol component. The springtime occurrence of unexpectedly low concentrations of most ionic constituents is found to sensitively reflect the influence of the inflow of southeasterly winds that prevailed during spring, while it is not common for that season of the year. Because most of those changes are closely tied with the variabilities in the regional circulation patterns for each measurement period, assessment of the ionic composition in concert with the temporal variations of meteorological conditions provided valuable insights into the source signals of different air masses that passed by the study area.     

Assessment of the photochemistry of OH and NO3 on Jeju Island during the Asian-dust-storm period in the spring of 2001

In this study, we examined the influence of the long-range transport of dust particles and air pollutants on the photochemistry of OH and NO3 on Jeju Island, Korea (33.17 degrees N, 126.10 degrees E) during the Asian-dust-storm (ADS) period of April 2001. Three ADS events were observed during the periods of April 10-12, 13-14, and 25-26. Average concentration levels of daytime OH and nighttime NO3 on Jeju Island during the ADS period were estimated to be about 1x10(6) and 2x10(8) moleculescm(-3) ( approximately 9 pptv), respectively. OH levels during the ADS period were lower than those during the non-Asian-dust-storm (NADS) period by a factor of 1.5. This was likely to result from higher CO levels and the significant loading of dust particles, reducing the photolysis frequencies of ozone. Decreases in NO3 levels during the ADS period was likely to be determined mainly by the enhancement of the N2O5 heterogeneous reaction on dust aerosol surfaces. Averaged over 24 h, the reaction between HO2 and NO was the most important source of OH during the study period, followed by ozone photolysis, which contributed more than 95% of the total source. The reactions with CO, NO2, and non-methane hydrocarbons (NMHCs) during the study period were major sinks for OH. The reaction of N2O5 on aerosol surfaces was a more important sink for nighttime NO3 during the ADS due to the significant loading of dust particles. The reaction of NO3 with NMHCs and the gas-phase reaction of N2O5 with water vapor were both significant loss mechanisms during the study period, especially during the NADS. However, dry deposition of these oxidized nitrogen species and a heterogeneous reaction of NO3 were of no importance.     

Long-term effects of fertilization on the forms and availability of soil phosphorus in rice paddy

The changes in total P accumulation and P compounds with time in the plough layer in a paddy soil in southern Korea were investigated in relation to the continuous application of chemical fertilizers (NPK), straw based compost (Compost), combination these two (NPK+Compost) for 31 years. Continuous fertilization increased the total and inorganic P contents in plough layers. In NPK, inorganic P fraction did not change with time, but organic P content increased significantly. Long-term application of chemical fertilizer together with compost accelerated the decrease in the organic P fraction, presumably due to promoting microbial activity in the plow layer, and then increased significantly inorganic P fraction. Compost application decreased the residual P and Fe-P fractions and then increased inorganic P fraction, in spite of continuous compost application. Increase in total, inorganic and extractable P with time may be closely related to the increase in the availability of accumulated P for rice growth.     

Role of organic acids in enhancing the desorption and uptake of weathered p,p'-DDE by Cucurbita pepo

Experiments were conducted to assess the effect of seven organic acids [succinic, tartaric, malic, malonic, oxalic, citric, ethylene-diaminetetraacetic (EDTA)] over a concentration range of two orders of magnitude (0.001-0.10 M) on the abiotic desorption of weathered p,p'-DDE and the extraction of polyvalent inorganic ions from soil. At 0.05 M all organic acids significantly increased contaminant desorption by 19-80%. Organic acids also increased the aqueous concentration of eight inorganic constituents extracted from soil, with at least a six-fold increase in the release of Al, Fe, Mn, and P at 0.001 M. Zucchini seedlings grown for 28 d in soil containing weathered p,p'-DDE (300 ng/g, dry weight) were periodically amended with distilled water, citric or oxalic acids (0.01 M). Plants receiving water removed 1.7% of the p,p'-DDE from the soil. Seedlings amended with citric or oxalic acids removed 2.1 and 1.9% of the contaminant, respectively, and contained up to 66% more contaminant in the shoot system than unamended vegetation. A second crop of untreated (distilled water) zucchini in the same soil removed more contaminant than the first crop (2.5%), although the addition of organic acids did not further enhance contaminant uptake. The data indicate that the addition of low molecular weight organic acids causes the partial dissolution of the soil structure through the chelation of inorganic structural ions, potentially enhancing bioavailability and having implications for the phytoremediation of persistent organic pollutants in soil.     

Toxicity and biodegradation of diamines

Phytotoxicity and cytotoxicity of 2,4-diaminotoluene (2,4-D), 4,4'-methylenedianiline (4,4-D), and 1,6-hexanediamine (1,6-D) were investigated by observing the germination of young radish seeds and the viability of HeLa cells, respectively. 2,4-D showed the highest, 4,4-D intermediate, and 1,6-D lowest cytotoxicity. However, the phytotoxicity decreased in the order of 4,4-D > 2,4-D > 1,6-D. Contrary to the results previously reported, in the modified Sturm test the activated sludge degraded 2,4-D and 4,4-D as well as 1,6-D without any pre-acclimation. Ochrobacterium antropi was isolated for degradation of 2,4-D and 4,4-D and Pseudomonas citronellolis for 1,6-D degradation. Thielevia sp. was isolated as 2,4-D degrading fungus and Aspergillus sp. as 4,4-D and 1,6-D degrading fungus. The fungi degraded the diamines faster than the bacteria.     

Cosolvent effects of alcohols on the Henry's law constant and aqueous solubility of tetrachloroethylene (PCE)

The effects of selected cosolvents ethyl alcohol (EtOH), isopropyl alcohol (IPA), and tertbutyl alcohol (TBA) on the Henry's law constant (H) of tetrachloroethylene (PCE) in aqueous solutions were investigated using the static headspace method. Alcohols in solution at a concentration around 20% and above acted as cosolvents increasing the aqueous solubility of PCE, which resulted in lower H values for PCE as compared to the value of H in deionized water. TBA, the most hydrophobic of the three alcohols, exhibited the strongest cosolvent effects, while EtOH had the weakest effects. A ln-linear relationship was observed between H and the volumetric fraction of alcohol added. Investigation of the solubilization of PCE in alcohol solutions confirmed the cosolvent trend observed for the three alcohols. A ln-ln relationship was observed between H and the enhanced solubility of PCE at a particular alcohol concentration. It was also observed that the value of H is a function of the enhanced solubility regardless of the type of cosolvent used. The results from this research further define the behavior of PCE in alcohol flooding solutions used in the remediation of PCE contaminated media.