Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction

The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2-ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.     

Superovulation fails to increase human blastocyst yield after uterine lavage

Uterine lavage affords the potential for non-invasive human blastocyst recovery, with obvious potential for preimplantation genetic diagnosis. In an effort to duplicate in women the multiple blastocyst recovery per cycle that can be achieved in several other species, we initiated a programme in which fertile women underwent superovulation, followed by lavage and embryo collection. We superovulated 15 fertile women, aged 21–40, in 29 cycles using one of four regimens. Insemination was by either intercourse or artificial intracervical donor insemination with cryopreserved sperm from men of proven fertility. In 28 of 29 cycles, the uterus was lavaged daily for 1, 2, or 3 days between 5 and 10 days after human chorionic gonadotropin (hCG) administration or luteinizing hormone (LH) surge. Almost total fluid volume was recovered in every lavage. There were no retained pregnancies and no complications. Surprisingly, only two morulae, one blastocyst, and four unfertilized ova were recovered. Thus, alterations in ovulation induction, insemination timing, or lavage techniques must be contemplated in order to increase the blastocyst yield and thus fulfil the potential of uterine lavage for preimplantation diagnosis.     

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.     

A Multi‐Scale Analysis of Single‐Family Residential Water Use in the Phoenix Metropolitan Area

Studies that evaluate determinants of residential water demand typically use data from a single spatial scale. Although household‐scale data are preferred, especially when econometric models are used, researchers may be limited to aggregate data. There is little, if any, empirical analysis to assess whether spatial scale may lead to ecological fallacy problems in residential water use research. Using linear mixed‐effects models, we compare the results for the relationship of single‐family water use with its determinants using data from the household and census tract scales in the city of Phoenix. Model results between the household and census tract scale are similar suggesting the ecological fallacy may not be significant. Common significant determinants on these two spatial scales include household size, household income, house age, pool size, irrigable lot size, precipitation, and temperature. We also use city/town scale data from the Phoenix metropolitan area to parameterize the linear mixed‐effects model. The difference in the parameter estimates of those common variables compared to the first two scales indicates there is spatial heterogeneity in the relationship between single‐family water use and its determinants among cities and towns. The negative relationship between single‐family house density and residential water use suggests that residential water consumption could be reduced through coordination of land use planning and water demand management.     

Characterizing a Major Urban Stream Restoration Project: Nine Mile Run (Pittsburgh,Pennsylvania, USA)

Urban stream restoration continues to be used as an ecological management tool, despite uncertainty about the long‐term sustainability and resilience of restored systems. Evaluations of restoration success often focus on specific instream indicators, with limited attention to the wider basin or parallel hydrologic and geomorphic process. A comprehensive understanding of urban stream restoration progress is particularly important for comparisons with nonurban sites as urban streams can provide substantial secondary benefits to urban residents. Here, we utilize a wide range of indicators to retrospectively examine the restoration of Nine Mile Run, a multi‐million dollar stream restoration project in eastern Pittsburgh (Pennsylvania, USA). Examination of available continuous hydrological data illustrates the high cost of failures to incorporate the data into planning and adaptive management. For example, persistent extreme flows drive geomorphic degradation threatening to reverse hydrologic connections created by the restoration and impact the improved instream biotic communities. In addition, human activities associated with restoration efforts suggest a positive feedback as the stream restoration has focused effort on the basin beyond the reach. Ultimately, urban stream restoration remains a potentially useful management tool, but continued improvements in post‐project assessment should include examination of a wider range of indicators.     

Non-invasive measurement of carbon monoxide burden in Guatemalan children and adults following wood-fired temazcal (sauna-bath) use

The use of wood-fired steam baths, or temazcales, is a potentially dangerous source of CO exposure in Guatemalan Highland communities where adults and children use them regularly for bathing, relaxation, and healing purposes. Physical characteristics of children predispose them to absorb CO faster than adults, placing them at greater exposure and health risks. Efforts to quantify temazcal exposures across all age groups, however, have been hampered by the limitations in exposure measurement methods. In this pilot study we measured COHb levels in children and adults following use of the temazcal using three field-based, non-invasive CO measurement methods: CO-oximetry, exhaled breath, and by estimation of COHb using micro-environmental concentrations and time diaries. We then performed a brief comparison of methods. Average CO concentrations measured during temazcal use were 661 ± 503 ppm, approximately 10 times the 15 min WHO guideline. Average COHb levels for all participants ranged from 12-14% (max of 30%, min 2%), depending on the method. COHb levels measured in children were not significantly different from adults despite the fact that they spent 66% less time exposed. COHb measured by CO-oximetry and exhaled breath had good agreement, but precision of the former was affected substantially by random instrument error. The version of the field CO-oximeter device used in this pilot could be useful in screening for acute CO exposure events in children but may lack the precision for monitoring the burden from less extreme, but more day-to-day CO exposures (e.g. indoor solid fuel use). In urban settings, health effects in children and adults have been associated with chronic exposure to ambient CO concentrations much lower than measured in this study. Future research should focus on reducing exposure from temazcales through culturally appropriate modifications to their design and practices, and targeted efforts to educate communities on the health risks they pose and actions they can take to reduce this risk.     

Assessing possible visitor-use impacts on water quality in Yosemite National Park, California

There is concern that visitor-use associated activities, such as bathing, dish washing, wastewater production, and stock animal use near lakes and streams, could cause degradation of water quality in Yosemite National Park. A study was conducted during 2004-2007 to assess patterns in nutrient and Escherichia coli (E. coli) concentrations in the Merced and Tuolumne Rivers and characterize natural background concentrations of nutrients in the park. Results indicated that nutrient and E. coli concentrations were low, even compared to other undeveloped sites in the United States. A multiple linear regression approach was used to model natural background concentrations of nutrients, with basin characteristics as explanatory variables. Modeled nitrogen concentrations increased with elevation, and modeled phosphorus concentrations increased with basin size. Observed concentrations (±uncertainty) were compared to modeled concentrations (±uncertainty) to identify sites that might be impacted by point sources of nutrients, as indicated by large model residuals. Statistically significant differences in observed and modeled concentrations were observed at only a few locations, indicating that most sites were representative of natural background conditions. The empirical modeling approach used in this study can be used to estimate natural background conditions at any point along a study reach in areas minimally impacted by development, and may be useful for setting water-quality standards in many national parks.     

Estimation of late twentieth century land-cover change in California

We present the first comprehensive multi-temporal analysis of land-cover change for California across its major ecological regions and primary land-cover types. Recently completed satellite-based estimates of land-cover and land-use change information for large portions of the United States allow for consistent measurement and comparison across heterogeneous landscapes. Landsat data were employed within a pure-panel stratified one-stage cluster sample to estimate and characterize land-cover change for 1973?C2000. Results indicate anthropogenic and natural disturbances, such as forest cutting and fire, were the dominant changes, followed by large fluctuations between agriculture and rangelands. Contrary to common perception, agriculture remained relatively stable over the 27-year period with an estimated loss of 1.0% of agricultural land. The largest net declines occurred in the grasslands/shrubs class at 5,131 km² and forest class at 4,722 km². Developed lands increased by 37.6%, composing an estimated 4.2% of the state??s land cover by 2000.     

Monitoring perchlorate exposure and thyroid hormone status among raccoons inhabiting a perchlorate-contaminated site

Perchlorate is a water soluble anion that is readily accumulated in vegetation. It inhibits uptake of iodide into thyroid gland tissue, thereby reducing production of thyroid hormones. Potential raccoon food items including berries, fish, and vegetation collected at a contaminated site contained quantifiable concentrations of perchlorate as determined by ion chromatography. Therefore, we monitored resident raccoons for exposure to perchlorate by examining plasma perchlorate and thyroid hormone concentrations. Resulting analytical data failed to demonstrate perchlorate exposure among raccoons that likely consumed food items collected along perchlorate-contaminated water bodies. There were no correlations between triiodothyronine or thyroxine and thyroid stimulating hormone concentrations, but triiodothyronine concentrations in raccoon plasma were significantly higher in 2000 than in 2001 (p = 0.0081). These data suggest that natural attenuation and remedial efforts initiated in January of 2001 may have reduced perchlorate exposure among raccoons inhabiting this site from 2000 to 2001. Temporal, spatial, and analytical factors limited our ability to quantify exposure among raccoons, however, our data do not indicate that raccoons currently inhabiting this site are at risk for significant exposure to perchlorate and subsequent effects.