Activity of biotin-dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotindependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. the other enzymes. 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved inthe degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in whichthere is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.     

Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence in situ hybridization (FISH)

Results from conventional cytogenetic studies on 21 609 amniotic fluid specimens were analyzed retrospectively to determine the residual risk for a cytogenetic abnormality if interphase FISH, capable of only detecting aneuploidy for chromosomes 13, 18, 21, X and Y, was performed and did not reveal an abnormality. Detection rates (the probability of detecting a cytogenetic abnormality when an abnormality is present) and residual risks (the likelihood of a cytogenetic abnormality, in view of normal interphase FISH results) were calculated for the four major clinical indications for prenatal diagnosis (advanced maternal age, abnormal maternal serum screen indicating increased risk for trisomy 18 or trisomy 21, abnormal maternal serum screen indicating increased risk for neural tube defects and ultrasound abnormality). Differences in detection rates were observed to depend on clinical indication and presence or absence of ultrasound abnormalities. The detection rate ranged from 18.2 to 82.6% depending on the clinical indication. The detection rates of abnormalities significant to the pregnancy being evaluated (i.e. abnormalities excluding familial balanced rearrangements and familial markers) were between 28.6 and 86.4%. The presence of ultrasound abnormalities increased the detection rate from 72.2 to 92.5% for advanced maternal age and from 78.6 to 91.3% for abnormal maternal serum screen, indicating increased risk for trisomy 18 or trisomy 21. With regard to residual risk, the risk for a clinically significant abnormality decreased from 0.9–10.1%, prior to the interphase FISH assay, to a residual risk of 0.6–1.5% following a normal interphase FISH result in the 4 groups studied. Providing patients with detection rates and residual risks, most relevant to their situation (clinical indication and presence or absence of ultrasound abnormality) during counseling, could help them better understand the advantages and limitations of interphase FISH in their prenatal diagnostic evaluation. Copyright © 2003 John Wiley & Sons, Ltd.     

An Automatic Atmospheric Fluoride Analyzer With Potential Application to Other Pollutants

The “dichromate” paper developed by Ripley, Clingenpeel, and Hum was used successfully in our laboratory for conversion of nitric oxide to nitrogen dioxide at concentrations up to the 1 ppm level. When this p aper was used for synthetic mixtures with nitric oxide concentrations in the range of 1—3 ppm, the analyses were erratic and values were lower than calculated. After a number of modifications of the procedures for preparing and using the impregnated paper, a modification of the “dichromate” paper was achieved that reduced scatter in the NO analysis and improved conversion efficiency. The efficiency and reproducibility of the modified paper are good enough that efficiency factors may be established to correct data obtained over a period of at least ó hours of continuous use at relative humidities (RH) near 50%.     

Exploring the perceptions of Malaysian Gen Z towards the impact of COVID-19 on sustainable development

Environmental Science and Pollution Research - COVID-19 has affected the pursuit of sustainable development in multifaceted ways; this study investigates Malaysian Gen Z perceptions of the COVID-19...     

A river water quality model integrated with a web-based geographic information system

Scientists often use mathematical models to assess river water quality. However, the application of the models in environmental management and risk assessment is quite limited because of the difficulty of preparing input data and interpreting model output. This paper presents a study that links ArcIMS, a Web-based Geographic Information System (GIS) software to ROUT, a national and regional scale river model which evolved from the US Environmental Protection Agency's Water Use Improvement and Impairment Model, to create a WWW-GIS-based river simulation model called GIS-ROUT. GIS-ROUT is used to predict chemical concentrations in perennially flowing rivers throughout the continental United States that receive discharges from more than 10,000 publicly owned wastewater treatment plants (WWTPs). The WWTP chemical loadings are calculated from per capita per day disposal of product ingredients and the population served by each plant. Each WWTP, containing data on treatment type and influent and effluent flows, is spatially associated with a specific receiving river segment. Based on user defined treatment-type removal rates for a particular chemical, an effluent concentration for each WWTP is calculated and used as input to the river model. Over 360,000 km of rivers are modeled, incorporating dilution and first order loss of the chemical in each river segment. The integration of spatial data, GIS, the WWW, and modeling in GIS-ROUT makes it possible to organize and analyze data spatially, and view results on interactive maps as well as tables and distribution charts. The integration allows scientists and managers in different locations to coordinate and share their estimations for environmental exposure and risk assessments.