Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.     

Neural tube defects in trisomy 18

In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.     

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

Amniotic fluid (AF) levels of 17-hydroxyprogesterone (17OHP) and testosterone (T) were determined at 16–17 weeks in 17 pregnancies at risk for CAH and results compared to 75 normal controls. The fetus was predicted to be unaffected in 12 cases on the findings of normal AF levels of both 17OHP and T and the latter allowed a correct prediction of fetal sex in all instances. HLA typing confirmed normality in 12 cases revealing 5 carriers, 5 homozygous normal and 2 indeterminate. Steroid levels of the 2 groups were similar. Three fetuses were predicted to be CAH affected on unambiguously high levels of 17OHP and T (in female only). HLA typing was in agreement, and the diagnosis was confirmed in 2 abortuses and a female newborn by physical and hormonal studies. In the last 2 cases AF levels of OHP and T were normal but HLA (A/B/C) genotypes were identical to the CAH affected siblings. Normal physical and hormonal findings in the 2 aborted fetuses would exclude the possibility of an in utero virilizing form of CAH. The discrepancy could be explained on the basis that the fetuses had an allelic form of 21-hydroxylase deficiency or on the basis of recombination (not fully tested). It is concluded that a fully informative prenatal diagnosis of CAH should not rely entirely on HLA typing but on hormonal studies.     

浅议可持续发展政策下环境问题的制度根源

文章从制度改变环境的角度指出,环境问题的主要根源在于制度的失败,即政府在制定和执行可持续发展政策中存在着不足之处.因此,环境问题的出路有赖于在可持续发展思想的指导下实行强制性制度变迁,并完善相关的制度,在可持续发展思想的指导下进行制度创新,构建绿色市场机制与可持续的政府政策.     

Technical and theoretical considerations in the HLA typing of amniotic fluid cells for prenatal diagnosis and paternity testing

HLA typing of amniotic fluid cells has been used for the prenatal diagnosis of the HLA linked diseases congenital adrenal hyperplasia (21-OH-deficiency (21-OH-def) type) and complement C4 deficiency and it has also been used for the prenatal de termination of paternity. There are, however, technical difficulties in this test associated with the weak expression of some B locus antigens on amniotic fluid cells, and theoretical difficulties related to associations between particular HLA antigens and the 21-OH-def allele. Since certain HLA-B locus antigens are found in significantly increased frequencies among patients with 21-OH-def, there is a relatively high incidence of HLA-B homozygosity among the patients and over 40 percent of the parents of these patients share one or more HLA-B locus antigens. Results of some prenatal HLA typing tests may thus be difficult to interpret, and supplementary tests should be used whenever possible. HLA typing of amniotic cells is, however, the only available procedure for prenatal diagnosis of C4 deficiency and it is the best available procedure for prenatal determination of paternity. A modification of our original procedure allows HLA typing to be performed with increased numbers of HLA typing sera, and sera with optimum reactivity for amniotic fluid cells have now been selected for the definition of most of the more commonly expressed HLA antigens. Although amniotic fluid cells do not express DR antigens, amniotic fluid cells can be typed for the HLA-linked marker glyoxalase I (GLO) and this may be the informative for prenatal diagnosis in some cases.     

Long-term engineering properties of recycled plastic lumber used in pier construction

Plastic lumber manufactured using post consumer waste plastic has been proposed as an acceptable material for use in the construction of docks, piers and bulkheads and is touted to outlast conventional wood products due to its strength, durability and resistance to rot. This study examines the long-term engineering properties of plastic lumber manufactured using post consumer waste plastic (TRIMAX, Ronkonkoma, NY). Plastic lumber profiles were used in the decking of a pier built in West Meadow Creek, Old Field, NY during December 1995. Samples of plastic lumber were removed from the deck of the pier periodically over a two-year period and returned to the laboratory for testing. Results of engineering tests showed the in-plane compression modulus (260±30 MPa), dimensional stability and the Shore D surface hardness (60±2) of plastic lumber removed from the pier remained similar to or greater than their pre-placement values. In contrast, significant changes in the modulus of elasticity of plastic lumber were measured with prolonged weathering. The modulus of elasticity of plastic lumber initially decreased from 1370 Pa to 750 Pa following 12 months weathering, a decrease equal to 45% of its pre-placement value and then increased during the second year to close to its initial value. The high variability in the modulus of elasticity should restrict the use of plastic lumber profiles to non-load bearing structural applications.     

Heavy metal contamination from mining sites in South Morocco: Monitoring metal content and toxicity of soil runoff and groundwater

The aim of the present work is the assessment of metal toxicity in runoff, in their contaminated soils and in the groundwater sampled from two mining areas in the region of Marrakech using a microbial bioassay MetPLATE™. This bioassay is based on the specific inhibition of the β-galactosidase enzyme of a mutant strain of Escherichia coli, by the metallic pollutants. The stream waters from all sampling stations in the two mines were all very toxic and displayed percent enzyme inhibition exceeding 87% except SWA₄ and SWB₁ stations in mine C. Their high concentrations of copper (Cu) and zinc (Zn) confirm the acute toxicity shown by MetPLATE. The pH of stream waters from mine B and C varied between 2.1 and 6.2 and was probably responsible for metal mobilization, suggesting a problem of acid mine drainage in these mining areas. The bioassay MetPLATE™ was also applied to mine tailings and to soils contaminated by the acidic waters. The results show that the high toxicity of these soils and tailings was mainly due to the relatively concentration of soluble Zn and Cu. The use of MetPLATE™ in groundwater toxicity testing shows that, most of the samples exhibited low metal toxicity (2.7–45.5% inhibition) except GW3 of the mine B (95.3% inhibition during the wet season and 82.9% inhibition during the dry season). This high toxicity is attributed to the higher than usual concentrations of Cu (189 μg Cu l⁻¹) and Zn (1505 μg Zn l⁻¹). These results show the potential risk of the contamination of different ecosystems situated to the vicinity of these two metalliferous sites. The general trend observed was an increase in metal toxicity measured by the MetPLATE with increasing total and mobile metal concentrations in the studied matrices. Therefore, the MetPLATE bioassay is a reliable and fast bioassay to estimate the metals toxicity in the aquatic and solids samples.     

Non-UV based germicidal activity of metal-doped TiO2 coating on solid surfaces

A stain-based screening method was developed to screen different catalyst coatings for their germicidal activity. A Baclight dead/live bacteria viability kit （invitrogen, molecular probes） was used for staining the cell. The screening was carried out following a standard procedure. This included loading cell suspension to solid surface and maintaining contact for 30 min, then staining with a mixture containing dyes. The stained cells were observed using an epifluorescent microscope and photographed with a CCD camera under UV. Metal-doped TiO2 coatings on AI plates were prepared and tested for non-UV germicidal activity without using UV. It was tested using model microorganisms such as Bakers Yeast （Saccharomyces cerevisiae）, Bacillus subtilis, Pseudomonas putida, and Escherichia coli. On the basis of the germicidal activity of catalyst and the degree of damage caused to the cells, the stained cells may appear green （viable）, green with red or yellow nuclei and yellow （compromised） or red （nonviable）. According to their stained color, cells were counted to calculate the percentage of dead, live, and compromised cells. Compromised cells are cells that grow very slowly after reculturing indicating a degree of reversible cell damage. Screening the germicidal activity using this staining method is accurate and efficient, and requires less time than the culture-based method. A modification to the procedure for measuring germicidal activity of rough surfaces or fibrous coatings was developed. Both TiO2 and metal-doped TiO2 （Ag, Pt, Au, Cu） possess non-UV based germicidal activity. The germicidal activity of TiO2 was found to be related with its wetting property and can be improved by UV irradiation before testing. It is not greatly affected by contact time, indicating a fast acting germicidal activity.     

船舶污染案件中国家损失索赔的法律问题

针对我国船舶污染案件中国家损失索赔出现的一些法律问题进行了较详细讨论。认为属于国家损失赔偿的项目有:污染直接造成的国有自然资源的损害和国家保护环境产生的费用,即采取的合理复原措施的费用以及预防措施的费用;国家损失赔偿请求的权利依据为环境管理权,该环境管理权不仅具有公法性质,也具有民事属性,可以由特定的部门行使;针对目前国家损失由不同部门进行索赔比较混乱的现状,建议我国成立一个综合性的组织或部门代表国家对国家海洋环境损失进行索赔,并明确规定专款专用。     

Evaluation of Material Biodegradability in Real Conditions–Development of a Burial Test and an Analysis Methodology Based on Numerical Vision

This work validated a burial protocol for in situ testing and presents a robust, repeatable and time-saving technique to measure degraded areas in the sample, i.e. an image analysis method. 1440 specimens of degraded samples have been compiled in a data base. To this end, twenty samples presenting different levels of biodegradability (i.e. PHBV/HV, PLA, PCL, PCL-Starch, paper, PE, PE-Starch) were buried at 4 different locations and then disinterred at 4, 6, 9, 12, 18, and 24-month intervals. The biodegradation levels of these samples were determined by computing weight and area loss. Weight loss was measured after careful cleaning, whereas area loss was quantified using image analysis. Image analysis gives reliable information on visual pollution while only requiring a rudimentary and thus quicker cleaning of the samples.