Molecular analysis of genomic DNA allows rapid,and accurate,prenatal diagnosis of peroxisomal D-bifunctional protein deficiency

Prenatal diagnosis was requested for a couple with a previous child affected by the peroxisomal disorder D-bifunctional protein deficiency. Prior analysis of the D-bifunctional protein cDNA sequence from the propositus had shown that it was missing 22 bp. This was subsequently attributed to a point mutation in the intron 5 donor site (IVS5+1G>C) of the D-bifunctional protein gene. Consistent with parental consanguinity, the patient was shown to be homozygous for this mutation, which is associated with loss of a Hph 1 restriction site in the genomic sequence. Prenatal testing of the fetus using genomic DNA isolated from uncultured amniocytes indicated that both alleles of the D-bifunctional protein had the IVS5+1G>C substitution. The peroxisomal defect was later confirmed biochemically using cultured amniocytes, which were found to have elevated levels of very long chain fatty acids (VLCFA). This is the first report of prenatal diagnosis of D-bifunctional protein deficiency using molecular analysis of genomic DNA. Copyright © 2002 John Wiley & Sons, Ltd.     

Improving the solid waste management in Phnom Penh city: a strategic approach

Though the solid waste management (SWM) system in Phnom Penh city in general has been upgraded since the waste collection service was franchised out to the private sector, the performance of the existing SWM system is still low. Unreliable and irregular collection service still exists. This means that there are shortcomings in the existing SWM system that need correction. This paper is an attempt to identify those shortcomings in order to find ways to improve the existing system. First, the present SWM system is reviewed. Then the system is evaluated to find constraints and shortfalls and finally some appropriate strategies are proposed that may help make SWM in the city more effective and efficient to meet environmentally sound objectives.     

The 2001 National Household Travel Survey: a look into the travel patterns of older Americans

INTRODUCTION: The main objective of this paper is to highlight travel patterns of older adults living in the United States as depicted in the 2001 National Household Travel Survey (NHTS). The NHTS is a national data collection program sponsored by the Bureau of Transportation Statistics and the Federal Highway Administration. It is the first national comprehensive household survey of both daily and long-distance travel, allowing for analysis of the full continuum of personal travel by Americans. To better understand the transportation needs of older Americans, it is useful to examine how travel patterns differ across age groups. The intent is to present basic travel characteristics of older adults (age 65+) and allow for comparisons with younger adults (ages 19-64). Travel-related characteristics of older adults in the United States: Results of the 2001 survey showed that older Americans travel extensively and rely on personal vehicles as heavily as their younger counterparts. Older Americans conduct 89% of their travel in personal vehicles. CHARACTERISTICS OF DAILY TRIPS TAKEN BY OLDER ADULTS: Older adults tend to be less mobile in that they take fewer trips, travel shorter distances, and have shorter travel times. This pattern is even more pronounced among older women. They are also more likely to suffer from self-reported medical conditions that further limit their travel. Characteristics of long-distance travel by older adults: Older men and women take long-distance trips at about the same rates and show a strong preference for using personal vehicles. And, while men and women take an equal percentage of their trips by air, older women show a strong preference for bus travel. CONCLUSIONS: Although older Americans travel extensively, they are less mobile than their younger counterparts. This pattern is more pronounced among older women and among those with self-reported medical conditions that affect their ability to travel outside their home. Older women consistently take the least number of trips per day, have the lowest driving rates, travel the shortest distances, and are more likely to report medical conditions that limit their travel. For men and women who have to give up driving, alternative means of transportation becomes a necessity. Yet, use of alternative transportation is relatively low; excluding personal vehicle and walking, all other means of transportation account for about 2% of daily travel. Further, of those with medical conditions that affect their travel, only about 12% use special transportation services such as dial-a-ride.     

Fetoscopy and fetal blood sampling in the management of a twin pregnancy with 45,X/46,XX amniotic fluid cell mosaicism and a suspected fluid sampling error

A 37 year-old woman with a twin pregnancy underwent amniocentesis to exclude fetal chromosome abnormality. The results indicated that both fetuses were mosaics, with 45,X and 46,XX, cell lines. Since it was suspected from the ultrasound scan that the twins were dizygotic, the result was questioned. Fetoscopy and fetal blood sampling were performed and karyotyping the fetal lymphocytes confirmed that one twin was indeed a mosaic, 45,X/ 46,XX, but the other had a normal male chromosome complement. The pregnancy resulted in the birth of a phenotypically normal girl, in whom the 45,X/46,XX mosaicism was confirmed, and a normal boy.     

Variable-density groundwater flow and solute transport in heterogeneous porous media: approaches, resolutions and future challenges

In certain hydrogeological situations, fluid density variations occur because of changes in the solute or colloidal concentration, temperature, and pressure of the groundwater. These include seawater intrusion, high-level radioactive waste disposal, groundwater contamination, and geothermal energy production. When the density of the invading fluid is greater than that of the ambient one, density-driven free convection can lead to transport of heat and solutes over larger spatial scales and significantly shorter time scales than compared with diffusion alone. Beginning with the work of Lord Rayleigh in 1916, thermal and solute instabilities in homogeneous media have been studied in detail for almost a century. Recently, these theoretical and experimental studies have been applied in the study of groundwater phenomena, where the assumptions of homogeneity and isotropy rarely, if ever, apply. The critical role that heterogeneity plays in the onset as well as the growth and/or decay of convective motion is discussed by way of a review of pertinent literature and numerical simulations performed using a variable-density flow and solute transport numerical code. Different styles of heterogeneity are considered and range from continuously "trending" heterogeneity (sinusoidal and stochastic permeability distributions) to discretely fractured geologic media. Results indicate that both the onset of instabilities and their subsequent growth and decay are intimately related to the structure and variance of the permeability field. While disordered heterogeneity tends to dissipate convection through dispersive mixing, an ordered heterogeneity (e.g., sets of vertical fractures) allows instabilities to propagate at modest combinations of fracture aperture and separation distances. Despite a clearer understanding of the processes that control the onset and propagation of instabilities, resultant plume patterns and their migration rates and pathways do not appear amenable to prediction at present. The classical Rayleigh number used to predict the occurrence of instabilities fails, in most cases, when heterogeneous conditions prevail. The incorporation of key characteristics of the heterogeneous permeability field into relevant stability criteria and numerical models remains a challenge for future research.     

Procedures in Sampling and Handling Auto Exhaust

Both the composition and discharge rate of auto exhausts vary widely and rapidly as speed and load demands upon the engine are changed. Moreover, among the combustion products are compounds that are highly reactive under proper conditions and others that are readily bound by receptive surfaces or absorbents. Under these conditions both the sampling procedure and subsequent sample handling must be such that (1) the sample that is recovered contains all or a fixed proportion of each incremental volume of the total to be represented and (2) the products so sampled are not allowed either to react with each other or to be lost or diminished in sample storage or transfer. Experimental research and development relevant to each requirement have been carried out, and results are reported and discussed. Two methods have been used for recovering sample-volume samples representative of the total volume produced during any combination of steady or transient engine modes. One employs a servo-followup system appropriately coupled to both the engine air-intake and to the sampling element; the sampling rate is continuously controlled to bear at all times a fixed ratio to the engine air-intake rate. The second method employs variable dilution, involving addition of diluent gas necessary to maintain a constant total of [exhaust + diluent]. If the mixture is sampled at a constant rate, the sample will contain exhaust appropriately proportioned. Experiments have shown differences in both hydrocarbon and NO_x values determined for comparable samples obtained by the two methods. The seriousness of this problem is discussed in relation to the sampling and sample handling procedures that are used.     

Photochemical Reactivity of Perchloroethylene: A New Appraisal

Perchloroethylene (PCE), a solvent used in dry cleaning, has been suspected of contributing significantly to photochemical ozone/oxidant (O₃/O_x) problems in urban atmospheres. Past evidence, however, was neither complete nor consistent. To interpret more conclusively the past evidence, and further understand PCE's role in the O₃O_x problem, a smog chamber testing program was conducted. The program's objectives were: (a) to explain the mechanism of the PCE reaction in smog chamber atmospheres, and (b) to extrapolate the smog chamber findings regarding PCE reactivity to the real atmosphere. Results showed that in smog chambers, PCE reacts and forms O₃/O_x following what appears to be a Cl instigated photooxidation mechanism rather than the OH initiated mechanism accepted in current smog chemistry. The evidence, collectively, strongly supported this conclusion even though the source of Cl atoms could not be identified with confidence. It was further concluded that in the real atmosphere neither the Cl instigated nor the OH instigated photooxidations of PCE can generate substantial concentrations of O₃/O_x. In fact, PCE contributes less to the ambient O₃/O_x problem than equal concentrations of ethane.     

European Union agricultural policy scenarios' impacts on social sustainability of agricultural holdings

This paper aims to assess the impacts of household behaviour on social sustainability by simulating agricultural policy scenarios of the European Union (EU) Common Agricultural Policy (CAP). For this purpose a multicriteria model was formulated, at farm household level, in order to study the social impacts of the CAPs using different scenarios. The scenarios were chosen on the basis of the main EU policies affecting farm households, such as the alternative crops scenario, the Water Framework Directive scenario and the agrienvironmental schemes scenario. The data for this analysis resulted from the CAP-IRE project, a European FP7-funded project. The model includes a utility function with several conflicting criteria such as maximization of gross margin and risk and labour minimization. The model is further used to simulate the impacts on social sustainability by estimating main social indicators. The model is applied in two different farm types in Greece. The results show that the CAP scenarios have multiple social impacts on agricultural holdings, and particularly on the farm labour structure. These impacts have negative effect on social sustainability.     

Assessing urban runoff program progress through a dry weather hybrid reconnaissance monitoring design

Characterizing dry weather conditions in urban Municipal Separate Storm Sewer Systems (MS4s), and then prioritizing and addressing problems due to urban pollutants, is a daunting challenge. The size and complexity of most MS4s and the ephemeral nature of many dry weather problems hamper efforts to identify and eliminate pollutant sources, and to track trends in condition. As a result, assessing overall program progress has proven difficult. We describe a hybrid dry weather urban monitoring design from southern California that combines probabilistic and targeted sampling to rigorously identify and prioritize problems and track program progress. Data from probabilistic sites define the urban background and establish tolerance intervals, which identify sites that persistently exceed the overall urban background. Targeted sites focus on locations where nearby activities and/or past history suggest that pollutant levels will be elevated. Embedding targeted monitoring within a probabilistic design enables data from targeted sites to be interpreted in a more meaningful regional context. Data from all sites are also used to construct site- and pollutant-specific control charts. These charts quickly identify instances where a site's behavior significantly changes, compared to its past behavior, suggesting an active source in the upstream drainage area. The hybrid design, and the use of formal statistical tools (tolerance intervals and control charts), permit the program to systematically prioritize problematic sites, compare conditions to the regional urban background, and track trends over time. In addition, the program's design allows several measures of program progress to be defined and thus consistently followed over time. Such hybrid designs can provide substantial advantages compared to more traditional monitoring approaches.