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1.
A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings.  相似文献   
2.
A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.  相似文献   
3.
Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM2-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM2-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM2-gangliosidosis (0 variant) was compared.  相似文献   
4.
Environmental Science and Pollution Research - This work studies the effects of different bromide-based ionic liquids, with phosphonium and ammonium cations, towards several environmental...  相似文献   
5.
Mercury (Hg) is a toxic element that is emitted to the atmosphere by both human activities and natural processes. Volcanic emissions are considered a natural source of mercury in the environment. In some cases, tree ring records taken close to volcanoes and their relation to volcanic activity over time are contradictory. In 1949, the Hoyo Negro volcano (La Palma-Canary Islands) produced significant pyroclastic flows that damaged the nearby stand of Pinus canariensis. Recently, 60 years after the eruption, we assessed mercury concentrations in the stem of a pine which survived volcano formation, located at a distance of 50 m from the crater. We show that Hg content in a wound caused by pyroclastic impacts (22.3 μg kg?1) is an order of magnitude higher than the Hg concentrations measured in the xylem before and after the eruption (2.3 μg kg?1). Thus, mercury emissions originating from the eruption remained only as a mark—in pyroclastic wounds—and can be considered a sporadic and very high mercury input that did not affect the overall Hg input in the xylem. In addition, mercury contents recorded in the phloem (9.5 μg kg?1) and bark (6.0 μg kg?1) suggest that mercury shifts towards non-living tissues of the pine, an aspect that can be related to detoxification in volcanism-adapted species.  相似文献   
6.
Torque teno virus (TTV) was surveyed in tap water collected in schools from three municipalities located in the south of Brazil. TTV genomes were found in 11.7 % (4/34) of the samples. TTV DNA was detected in 10.5 % (2/19) of the samples collected at the city of Caxias do Sul and in 25 % (2/8) of the samples from Pelotas. Those cities have a low rate of sewage treatment. All samples from Santa Cruz do Sul, which has nearly 92 % of its sewage treated, were negative. These results suggest that the amount of sewage treated may have an effect on the detection rates of TTV DNA in drinking water in a given urban area, showing a mild negative correlation (r = ?0.76), when comparing the percentage of sewage treatment to the detection of TTV genomes. The detection rate of TTV was also compared with Escherichia coli, showing a strong correlation (r = 0.97), indicating that TTV may be a suitable marker of fecal contamination.  相似文献   
7.
The catalytic activity and selectivity of manganese zirconia mixed oxides were evaluated for the oxidation of two common chlorinated pollutants found in waste streams, namely 1,2-dichloroethane (DCE) and trichloroethylene (TCE). Mixed oxides with varying Mn-Zr content were prepared by coprecipitation via nitrates, and subsequent calcination at 600 degrees C for 4 h in air. These catalysts were characterised by means of several techniques such as atomic emission spectrometry, N2 adsorption-desorption, powder X-ray diffraction, temperature-programmed desorption of ammonia, pyridine adsorption followed by diffuse reflectance infrared spectroscopy and temperature-programmed reduction with hydrogen. The active catalytic behaviour of Mn-Zr mixed oxides was ascribed to a substantial surface acidity combined with readily accessible active oxygen species. Hence, the mixed oxide with 40 mol% manganese content was found to be an optimum catalyst for the combustion of both chlorocarbons with a T50 value around 305 and 315 degrees C for DCE and TCE oxidation, respectively. The major oxidation products were carbon dioxide, hydrogen chloride and chlorine. It was observed that the formation of both CO2 and Cl2 was promoted with Mn loading.  相似文献   
8.
Miranda B  Díaz E  Ordóñez S  Vega A  Díez FV 《Chemosphere》2007,66(9):1706-1715
The performance of bulk chromium oxide is compared with that of a Mn commercial catalyst for the deep oxidation of trichloroethene (1000-2500ppmv, 55h(-1) space velocity) in air, in dry and wet (20000ppm of H(2)O) conditions, in terms of activity, selectivity and stability. Chromium oxide was found to be more active (on a catalyst weight basis), however its activity decreases continuously with time on stream. The presence of water increases its stability, the Mn catalyst showing the opposite behaviour. The effect of water on the Cr catalyst can be explained according to the Deacon equilibrium, as the presence of water tends to decrease the Cl(2) concentration, assumed to be responsible of the catalyst deactivation. Regarding to the selectivity, the Mn catalyst yields C(2)Cl(4), CCl(4) and CHCl(3) as organochlorinated by-products, whereas chromium oxide produces only trace amounts of CCl(4). Simple power-law kinetics expressions (first-order for Mn and zero-order for Cr) provide fairly good fits for the evolution of the conversion with the temperature. Furthermore, the kinetic behaviour of chromium oxide can be represented with a Langmuir-Hinshelwood model taking into account the chlorine inhibitory effect.  相似文献   
9.
The structural investigation and the chromium adsorptive potential of an exopolysaccharide (EPS) released during the growth of an indigenous cyanobacterium, Oscillatoria trichoides Szafer, were investigated in a laboratory‐scale study. The results showed that, of the total EPS produced, 410.53 milligrams/gram (mg g?1) were released polysaccharides (RPS) and 11.36 mg g?1 were capsular polysaccharides (CPS). The sorption of hexavalent chromium (Cr6+) by the RPS achieved a maximum amount of metal removal (qmax) value of 76.92 mg g?1 of polysaccharide dry weight. The highest coefficient of determination (0.9742) for the Langmuir adsorption model indicates best fitness of the model in explaining the sorption as a unilayer process. Equilibrium studies indicated that 30 to 40 milligrams per liter initial chromium concentration and a pH of 2 were optimal for biosorption of chromium by the RPS. Scanning electron microscopy with energy‐dispersive X‐ray spectroscopy analysis of Cr6+‐treated RPS showed the presence of 3.76% bound chromium. Compositional analysis of the EPS showed the presence of carbohydrates, proteins, pyruvic acid, and hexosamines. High‐performance liquid chromatography analysis demonstrated the presence of hexoses, as neutral sugars and glucuronic acid as an acidic sugar. The presence of carboxylic groups was also detected by infrared spectroscopy. The presence of these chemical constituents may serve as binding sites for the metal ions; therefore, the RPS of this species appears to be a promising biosorbent for Cr6+.  相似文献   
10.
The southeastern United States has undergone anthropogenic changes in landscape structure, with the potential to increase (e.g., urbanization) and decrease (e.g., reservoir construction) stream flashiness and flooding. Assessment of the outcome of such change can provide insight into the efficacy of current strategies and policies to manage water resources. We (1) examined trends in precipitation, floods, and stream flashiness and (2) assessed the relative influence of land cover and flow‐regulating features (e.g., best management practices and artificial water bodies) on stream flashiness from 1991 to 2013. We found mean annual precipitation decreased, which coincided with decreasing trends in floods. In contrast, stream flashiness, overall, showed an increasing trend during the period of study. However, upon closer examination, 20 watersheds showed stable stream flashiness, whereas 5 increased and 6 decreased in flashiness. Urban watersheds were among those that increased or decreased in flashiness. Watersheds that increased in stream flashiness gained more urban cover, lost more forested cover and had fewer best management practices installed than urban watersheds that decreased in stream flashiness. We found best management practices are more effective than artificial water bodies in regulating flashy floods. Flashiness index is a valuable and straightforward metric to characterize changes in streamflow and help to assess the efficacy of management interventions.  相似文献   
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