Trisomy 5 mosaicism detected prenatally with an affected liveborn

This paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. Trisomy 5 cells were measured from 25 per cent of amniocytes from two culture vessels. No further invasive testing was performed until 32 weeks' gestation, at which time ultrasound examination showed fetus with intrauterine growth retardation. Fetal blood sampling was then performed, with only karyotypically normal cells recovered. At birth, the child was found to have multiple dysmorphic features and congenital anomalies, including an eventration of the diaphragm and ventricular septal defect, both of which required surgical correction. Chromosomal analysis of cord blood lymphocytes indicated 46,XY; however, 20 per cent of the cultured fibroblasts obtained from the chest skin at the incision site for diaphragmatic repair had a 47,XY,+5 karyotype. Trisomy 5 mosaicism may be another example of tissue-limited mosaicism. Fetal blood sampling can then be falsely reassuring. Furthermore, because some cell lines rarely appear in lymphocyte populations, cytogenetic analysis of multiple tissues warranted as part of the evaluation of individuals with developmental delay and dysmorphic features.     

The prenatal determination of glucose-6-phosphatase activity by fetal liver biopsy

Two fetuses at risk for glucose-6-phosphatase deficiency had in utero liver biopsies. Analysis of each showed this enzyme activity to be in the normal range and the pregnancies continued. Neither child has any clinical or metabolic evidence of glucose-6-phosphatase deficiency.     

Modeling Connectivity of Non‐floodplain Wetlands: Insights,Approaches, and Recommendations

Representing hydrologic connectivity of non‐floodplain wetlands (NFWs) to downstream waters in process‐based models is an emerging challenge relevant to many research, regulatory, and management activities. We review four case studies that utilize process‐based models developed to simulate NFW hydrology. Models range from a simple, lumped parameter model to a highly complex, fully distributed model. Across case studies, we highlight appropriate application of each model, emphasizing spatial scale, computational demands, process representation, and model limitations. We end with a synthesis of recommended “best modeling practices” to guide model application. These recommendations include: (1) clearly articulate modeling objectives, and revisit and adjust those objectives regularly; (2) develop a conceptualization of NFW connectivity using qualitative observations, empirical data, and process‐based modeling; (3) select a model to represent NFW connectivity by balancing both modeling objectives and available resources; (4) use innovative techniques and data sources to validate and calibrate NFW connectivity simulations; and (5) clearly articulate the limits of the resulting NFW connectivity representation. Our review and synthesis of these case studies highlights modeling approaches that incorporate NFW connectivity, demonstrates tradeoffs in model selection, and ultimately provides actionable guidance for future model application and development.     

Stream Phosphorus Transport in the Lake Tahoe Basin, 1989–1996

Lake Tahoe is undergoing the initial stages of culturaleutrophication due to human alteration of the airshed andwatershed. The lake's switch from nitrogen (N) to phosphorus (P)limitation has been attributed primarily to atmospheric Nloading. This places an increased importance on controllingwatershed movement of P to the lake. A stream water qualitymonitoring data set consisting of nine streams in the Lake Tahoebasin has been analyzed to characterize the spatiotemporalvariation of P delivery to the lake. This data is from the LakeTahoe Interagency Monitoring Program (LTIMP), which providesscientific data for planning and regulatory agencies to addressenvironmental problems in the Lake Tahoe basin. Results indicatethat P delivery (concentrations, loads) varies greatly atinterannual, seasonal, and spatial scales. Annual and seasonaltotal P (TP) concentrations can vary up to three orders ofmagnitude in a given stream and are strongly associated withsuspended sediment. Particulate P is the major form of Ptransported by Tahoe streams and was strongly correlated withpercent surficial geologic deposits, which are primarily locatednear streams. Tahoe streams with the highest annualP concentrations often had the lowest annual P loads, and visaversa. P loading is greatest during the spring snowmelt (75% ofannual average). Potential watershed parameters influencing Pdelivery to Lake Tahoe have been identified as precipitation,basin area, basin steepness, and road and human developmentcoverage. Results also suggest that human development impacts onstream P loads are most prevalent during high precipitationyears. Identification and quantification of stream sediment andP sources such as streambanks and impervious surface isnecessary to aid in watershed restoration efforts.     

Aggregation of Adenovirus 2 in Source Water and Impacts on Disinfection by Chlorine

It is generally accepted that viral particles in source water are likely to be found as aggregates attached to other particles. For this reason, it is important to investigate the disinfection efficacy of chlorine on aggregated viruses. A method to produce adenovirus particle aggregation was developed for this study. Negative stain electron microscopy was used to measure aggregation before and after addition of virus particles to surface water at different pH and specific conductance levels. The impact of aggregation on the efficacy of chlorine disinfection was also examined. Disinfection experiments with human adenovirus 2 (HAdV2) in source water were conducted using 0.2 mg/L free chlorine at 5 °C. Aggregation of HAdV2 in source water (≥3 aggregated particles) remained higher at higher specific conductance and pH levels. However, aggregation was highly variable, with the percentage of particles present in aggregates ranging from 43 to 71 %. Upon addition into source water, the aggregation percentage dropped dramatically. On average, chlorination CT values (chlorine concentration in mg/L × time in min) for 3-log₁₀ inactivation of aggregated HAdV2 were up to three times higher than those for dispersed HAdV2, indicating that aggregation reduced the disinfection rate. This information can be used by water utilities and regulators to guide decision making regarding disinfection of viruses in water.     

Laboratory validation study of new vapor‐phase‐based approach for groundwater monitoring

Recent improvements in field‐portable analytical equipment allow accurate on‐site measurement of VOCs present in air at concentrations of less than 0.1 parts per million volume (ppmv). The objective of this project is to determine if the use of these instruments for vapor‐phase measurements of headspace in a monitoring well can serve as a reliable and accurate method for monitoring volatile organic compound (VOC) concentrations in groundwater under equilibrium conditions. As part of a comprehensive research project investigating the utility of this proposed monitoring method, the authors have completed a laboratory validation study to identify instruments and sample‐collection methods that will provide accurate measurement of VOC concentrations in groundwater. This laboratory validation study identified two field‐portable instruments (a gas chromatograph and a photoionization detector) with sufficient sensitivity to measure VOCs in groundwater at concentrations below typical monitoring standards (i.e., 1 to 5 μg/L). The accuracy and precision of these field instruments was sufficient to satisfy typical data‐quality objectives for laboratory‐based analysis. In addition, two sample‐collection methods were identified that yield vapor‐phase samples in equilibrium with water: direct headspace sampling and passive diffusion samplers. These sample‐collection methods allow the field instruments (which measure VOC concentrations in vapor‐phase samples) to be used to measure VOC concentrations in water. After further validation of these sample‐collection methods in the field, this monitoring method will provide a simple way to obtain accurate real‐time measurements of VOC concentrations in groundwater using inexpensive field‐portable analytical instruments. © 2009 Wiley Periodicals, Inc.     

Correlations between in situ denitrification activity and nir-gene abundances in pristine and impacted prairie streams

Denitrification is a process that reduces nitrogen levels in headwaters and other streams. We compared nirS and nirK abundances with the absolute rate of denitrification, the longitudinal coefficient of denitrification (i.e., K_den, which represents optimal denitrification rates at given environmental conditions), and water quality in seven prairie streams to determine if nir-gene abundances explain denitrification activity. Previous work showed that absolute rates of denitrification correlate with nitrate levels; however, no correlation has been found for denitrification efficiency, which we hypothesise might be related to gene abundances. Water-column nitrate and soluble-reactive phosphorus levels significantly correlated with absolute rates of denitrification, but nir-gene abundances did not. However, nirS and nirK abundances significantly correlated with K_den, as well as phosphorus, although no correlation was found between K_den and nitrate. These data confirm that absolute denitrification rates are controlled by nitrate load, but intrinsic denitrification efficiency is linked to nirS and nirK gene abundances.     

Noncatalytic Auto Exhaust Combustor

Present methods for the determination of carbon monoxide are discussed including indicator tubes, the iodine pentoxide reaction and measurement by gas chromatography. In the gas chromatographic method an air sample is separated on a gas-solid chromatogra-phic column and the separated CO is converted to methane by hydrogenation at elevated temperature. The separated CO, in the form of methane, is passed into a hydrogen flame detector and measured. The conversion from CO to methane allows the use of a sensitive ionization detector in place of the thermal conductivity cell which is insufficiently sensitive for the measurement of trace amounts of CO. The optimum operating conditions are discussed. It is possible to determine one ppm CO in air. The iodine pentoxide reaction with CO has been combined with electrometric measurement. The iodine liberated is passed into a Ditte cell and the current generated is measured by an electrometerrecorder combination. This method is continuously direct reading with a permanent record. It is suitable for the continuous routine analysis of one ppm CO.