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Epidermolysis bullosa (EB) is a group of inherited disorders characterized by increased skin fragility, resulting in blisters and erosions after minor trauma. Mutations in 10 structural genes expressed in the cutaneous basement membrane zone have been reported. The DebRA Molecular Diagnostics Laboratory at Jefferson Medical College has performed 144 DNA-based prenatal diagnoses since 1993 in families at risk for recurrence of the most severe forms of EB, including the recessive dystrophic EB (RDEB), junctional EB (JEB), EB with pyloric atresia (EB-PA), and EB simplex (EBS). A mutation-detection strategy using either conformation-sensitive gel electrophoresis (CSGE) or denaturing high-performance liquid chromatography (dHPLC) scanning analysis, followed by nucleotide sequencing, was applied to most cases with DEB and to all JEB, EB-PA, and EBS families. For some RDEB families, linkage analysis was performed, either alone when the inheritance pattern was clear or in combination with one mutation. Among the 144 prenatal diagnoses, 63 were for RDEB, 69 for JEB, 6 for EB-PA, and 6 for EBS. Twenty-eight normal, 73 heterozygous carrier, and 28 affected RDEB, JEB, and EB-PA pregnancies were reported in these recessively inherited diseases. Two affected and four normal pregnancies were predicted in dominantly inherited EBS. Among the 144 pregnancies, 9 were terminated without confirmation, 13 cases were lost to follow-up, and 6 pregnancies are ongoing. There were 6 families with inconclusive results due either to recombination events between flanking markers, absence of informative markers for one allele, or lack of sample from the previously affected child. There were three discordant results, one that was explained by maternal contamination of the chorionic villus sample and two that were unresolved. Overall, the availability, relative ease, and over 98% success rate make molecular DNA-based prenatal diagnosis a viable option for EB families at risk. Copyright © 2003 John Wiley & Sons, Ltd.  相似文献   
33.
土壤中发生的挥发性有机硫气体的研究   总被引:11,自引:0,他引:11  
测定了张北、封丘、鹰潭、吴县、长沙、湛江等地旱地土壤和水稻土在室内培养情况下挥性有机硫气体的释放。结果表明,这些土壤中产生硫化氢、氧硫化碳、甲基硫醇、二甲基硫、二硫化碳和二甲基二硫等含硫气体。水稻土中产生的有机硫气体高于旱地土壤,同时施用有机肥和化肥后,土壤中发生的有机硫气体高于仅施用化肥,在厌氧条件下检测到的有机硫气体高旱地土壤、同时施用有机肥和化肥后,土壤中发赡有机硫气体高于仅施用化肥。在厌氧  相似文献   
34.
The objectives of this study were to evaluate the performance of powdered activated carbon treatment (PACT) process based on the adsorption capacity of powdered activated carbon (PAC) in activated sludge and the effect of dissolved organic substances in activated sludge on the adsorption capacity of PAC. The DCP adsorption capacity of three PACs originated from different raw materials (coal, soft coal and sawdust) in activated sludge were 29%, 34% and 17% of that of new PAC, respectively. The performance of PACT process for shock loading of 3,5-dichlorophenol (3,5-DCP) was different among PACs in spite of the same adsorption capacity in new PAC. The performance of PACT process for removal of DCP is dependent not on the adsorption capacity of new PAC but on the adsorption capacity of PAC in the aeration tank. Dissolved organic matter (DOM) with molecular weight smaller than 50kDa did not affect the adsorption capacity of PAC for 3,5-DCP in the activated sludge reactor. DOM with molecular weight larger than 50kDa and biofilm developed on the surface of PAC seemed to be responsible for the decreased adsorption capacity of PAC for the DCP.  相似文献   
35.
The diffusion pathways of porous sandstone were examined by a three-dimensional (3-D) imaging technique based on X-ray computed tomography (CT) using the SPring-8 (Super Photon ring-8 GeV, Hyogo, Japan) synchrotron radiation facility. The analysis was undertaken to develop better understanding of the diffusion pathways in natural rock as a key factor in clarifying the detailed mechanism of the diffusion of radionuclides and water molecules through the pore spaces of natural barriers in underground nuclear waste disposal facilities. A cylindrical sample (diameter 4 mm, length 6 mm) of sandstone (porosity 0.14) was imaged to obtain a 3-D image set of 450(3) voxels=2.62(3) mm(3). Through cluster-labeling analysis of the 3-D image set, it was revealed that 89% of the pore space forms a single large pore-cluster responsible for macroscopic diffusive transport, while only 11% of the pore space is made up of isolated pores that are not involved in long-range diffusive transport. Computer simulations of the 3-D diffusion of non-sorbing random walkers in the largest pore cluster were performed to calculate the surface-to-volume ratio of the pore, tortuosity (diffusion coefficient in free space divided by that in porous rock). The results showed that (i) the simulated surface-to-volume ratio is about 60% of the results obtained by conventional pulsed-field-gradient proton nuclear magnetic resonance (NMR) laboratory experiments and (ii) the simulated tortuosity is five to seven times larger than the results of laboratory diffusion experiments using non-sorbing I(-) and Br(-). These discrepancies are probably attributed to the intrinsic sample heterogeneity and limited spatial resolution of the CT system. The permeability was also estimated based on the NMR diffusometry theory using the results of the random walk simulations via the Kozeny-Carman equation. The estimated permeability involved an error of about 20% compared with the permeability measured by the conventional method, suggesting that the diffusometry-based NMR well logging with gradient coils is applicable to the in-situ permeability measurement of strata. The present study demonstrated that X-ray CT using synchrotron radiation is a powerful tool for obtaining 3-D pore structure images without the beam-hardening artifacts inevitable in conventional CT using X-ray tubes.  相似文献   
36.
The performance of a garbage disposal system to solubilize and mineralize food wastes through biological solubilization was evaluated through the examination of the effects of operational conditions like water supply volume, water supply frequency and aeration on the amount of waste solubilized, mineralized and accumulated in the reactor. The biological solubilization process consisted of a solubilization reactor and a circulation tank. Food waste and fresh water were supplied into the solubilization reactor with support media. Wastewater from the solubilization reactor was discharged to the circulation tank and water in the circulation tank was periodically pumped back to the solubilization reactor. In case of the total food waste loading of 16 kg m(3-1) d(-1), little carbon (0-5.7%) accumulated in the reactor as long as the system was kept under aerobic condition through large volume of water supply (higher than 3.5 lh(-1)) or applying aeration in the circulation tank. However, 42% of the loaded carbon accumulated under anaerobic condition in low water supply (less than 1.8 lh(-1)). The rest of the waste was either solubilized or mineralized. The aeration in the circulation tank, therefore, was effective to provide similar solubilization and mineralization as the large volume of water supply. However, frequency of feeding at the large volume of water supply had no significant effect on the amount of waste solubilization and mineralization.  相似文献   
37.
A sintering technology for preparing porous materials from sea bottom sediments was developed for use in water purification. The purpose of the present study was to develop methods for converting the sea bottom sediments dredged from Ago Bay into value-added recycled products. The sintered products fabricated at 400℃ were found to be very effective adsorbents for the removal of heavy metals.  相似文献   
38.
An automatic monitor has been developed for measuring formaldehyde in air using a sensitive tape for formaldehyde. It is based on the color change of the tape on reaction with formaldehyde. The porous cellulose tape, containing silica gel as an absorbent and impregnated with the processing solution containing hydroxylamine sulfate, Methyl Yellow (pH indicator; pH 2.9-4.0, red-yellow), glycerin and methanol, was found to be a highly sensitive means of detecting formaldehyde and maintains a stable sensitivity. When the tape was exposed to a sample of air containing formaldehyde, the color of the tape changed from yellow to red. The degree of color change was proportional to the concentration of formaldehyde at a constant sampling time and flow rate, and it could be recorded by measuring the intensity of reflected light (555 nm). The tape could be used to detect down to 0.08 ppm (World Health Organization standard) of formaldehyde with a sampling time of 30 min and a flow rate of 100 mL min-1. Reproducibility tests showed that the relative standard deviation of response (n = 10) was 3.8% for 0.1 ppm formaldehyde. The monitor is simple, specific, capable of unattended operation and is recommended for both laboratory and field operation.  相似文献   
39.
Food and Environmental Virology - Influenza A virus (IAV) infection is perennially one of the leading causes of death worldwide. Effective therapy and vaccination are needed to control viral...  相似文献   
40.
The primary vector of the dengue fever virus, the Aedes aegypti mosquito, is distributed across the tropical and sub-tropical latitudes; however, the area at risk of infection has been expanding steadily. This study aimed to identify the industries most vulnerable to the effects of dengue fever by 2030. The assessment was done by considering the international supply chain, with aspects such as the labor intensity, and the relevant geographical and socioeconomic aspects being taken into account. In addition, multi-regional input-output tables were employed to analyze the ripple effects of productivity losses resulting from workers contracting the disease. The results indicate that more than 10% of the workers involved in the supply chain of all the major industries in the United States (USA), China, Japan, and Germany could be considered at risk of contracting dengue fever by 2030. Moreover, the risk was even higher in India and Brazil, namely, more than 70%. The effect of widespread dengue fever infection could influence industrial activities severely, not only in the regions most at risk (India and Brazil) but also in the other regions (USA, Japan, and Germany). Labor-intensive industries, such as agriculture, fisheries, and the distribution sector are particularly at risk and will have to consider appropriate contingency measures. It is recommended that the downstream side of the supply chain, the industries in the USA, Japan, and Germany, supports the introduction of worker’s health management system against the infectious disease into their business partners. This study employed limited data and only estimated the possible effects of the disease by 2030. Further comprehensive analysis is required with more data modeled for the future to verify and enhance the reliability of the present results.  相似文献   
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