Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

Prenatal diagnosis of cleft lip and palate by ultrasound

Bilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross-section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping.     

Biodiversity and industry ecosystem management

The term biodiversity describes the array of interacting, genetically distinct populations and species in a region, the communities they comprise, and the variety of ecosystems of which they are functioning parts. Ecosystem health, a closely related concept, is described in terms of a process identifying biological indicators, end points, and values. The decline of populations or species, an accelerating trend worldwide, can lead to simplification of ecosystem processes, thus threatening the stability and sustainability of ecosystem services directly relevant to human welfare in the chain of economic and ecological relationships. The challenge of addressing issues of such enormous scope and complexity has highlighted the limitations of ecology-as-science. Additionally, biosphere-scale conflicts seem to lie beyond the scope of conventional economics, leading to differences of opinion about the commodity value of biodiversity and of the services that intact ecosystems provide. In the face of these uncertainties, many scientists and economists have adopted principles that clearly assign burdens of proof to those who would promote the loss of biodiversity and that also establish near-trump (preeminent) status for ecological integrity. Electric utility facilities and operations impact biodiversity whenever construction, operation, or maintenance of generation, delivery, and support facilities alters landscapes and habitats and thereby impacts species. Although industry is accustomed to dealing with broad environmental concerns (such as global warming or acid rain), the biodiversity issue invokes hemisphere-wide, regional, local, and site-specific concerns all at the same time. Industry can proactively address these issues of scope and scale in two main ways: first, by aligning strategically with the broad research agenda put forth by informed scientists and institutions; and second, by supporting focused management processes whose results will contribute incrementally to the broader agenda of rebuilding or maintaining biodiversity.     

Teaching for community environmental action: an alternative instructional model for environmental concepts and issues in schools

Summary Whether environmental education in the school curriculum is treated as a separate subject or as an interdisciplinary entity, the end product should be the same: to provide learners with the desire to preserve or develop optimum environments and to improve less desirable ones. In this endeavour, the learners must ultimately reach out to participate in community decisions and environmental management activities, for that is where the environmental problems abound. Moreover, young persons are generally more knowledgeable than many adults on environmental matters and are more aware of the effects of environmental degradation. When they participate in community environmental management, they may also develop unique and particularly dynamic qualities.Research worldwide suggests that very few teaching programmes encourage environmental participation. In Kenya teachers tend to use deductive teaching methods which do not encourage participation, although there may be ample opportunities in the local environment to facilitate such participation. A more refined, reconstructivist inquiry strategy, committed to the attainment of participative environmental education objectives is suggested. The approach, referred to as an operation-environment instructional model emphasizes action research, supported by a series of other vital stages, as fundamental to the agenda for environmental learning.William W. Toili possesses both Bachelor and Master's Degrees in Education from Nairobi as well as a Master's Degree from the University of Leeds, UK. He is currently a lecturer in Environmental Education at Maseno University College.     

Land reclamation and strip-mined coal production in appalachia

This study quantifies the short-run impacts of reclamation on strip mining costs, coal prices, production, and employment in Appalachia. A process analysis model is developed and used to estimate short-run strip-mined coal supply functions under conditions of alternative reclamation requirements. Then, an econometric model is developed and used to estimate coal demand relations. Our results show that full reclamation has rather minor impacts. In 1972, full reclamation would have increased strip-mined coal production costs an average of $0.35 per ton, reduced strip-mined coal production by 10 million tons, and cost approximately 1600 jobs in Appalachia.     

COLD WATER PATCHES IN WARM STREAMS: PHYSICOCHEMICAL CHARACTERISTICS AND THE INFLUENCE OF SHADING1

ABSTRACT: Discrete cold water patches within the surface waters of summer warm streams afford potential thermal refuge for cold water fishes during periods of heat stress. This analysis focused on reach scale heterogeneity in water temperatures as influenced by local influx of cooler subsurface waters. Using field thermal probes and recording thermistors, we identified and characterized cold water patches (at least 3°C colder than ambient streamflow temperatures) potentially serving as thermal refugia for cold water fishes. Among 37 study sites within alluvial valleys of the Grande Ronde basin in northeastern Oregon, we identified cold water patches associated with side channels, alcoves, lateral seeps, and floodplain spring brooks. These types differed with regard to within floodplain position, area, spatial thermal range, substrate, and availability of cover for fish. Experimental shading cooled daily maximum temperatures of surface waters within cold water patches 2 to 4°C, indicating a strong influence of riparian vegetation on the expression of cold water patch thermal characteristics. Strong vertical temperature gradients associated with heating of surface layers of cold water patches exposed to solar radiation, superimposed upon vertical gradients in dissolved oxygen, can partially restrict suitable refuge volumes for stream salmonids within cold water patches.     

Paradise Threatened: Land Use and Erosion on St. John, US Virgin Islands

2 /yr, respectively. Geomorphic evidence indicates that plantation agriculture during the 18th and 19th centuries did not cause severe erosion. Since about 1950 there has been rapid growth in roads and development due to increasing tourism and second-home development. Our field investigations identified the approximately 50 km of unpaved roads as the primary source of anthropogenic sediment. Field measurements of the road network in two catchments led to the development of a vector-based GIS model to predict road surface erosion and sediment delivery. We estimate that road erosion has caused at least a fourfold increase in island-wide sediment yields and that current sedimentation rates are unprecedented. Paving the dirt roads and implementing standard sediment control practices can greatly reduce current sediment yields and possible adverse effects on the marine ecosystems surrounding St. John.     

SIMULATION OF TEMPORAL CHANGES IN RAINFALL-RUNOFF CHARACTERISTICS,COON CREEK BASIN,WISCONSIN1

ABSTRACT: Streamflow for 67 years was simulated for Coon Creek at Coon Valley, Wisconsin, for three conditions in the drainage basin: (1) conditions in the 1930s; (2) conditions in the 1970s, excluding flood-detention reservoirs; and (3) conditions in the 1970s, including flood-detention reservoirs. These simulations showed that the changes in agricultural practices over 40 years (1940–80) reduced the 100-year flood by 53 percent (from 38,900 to 18,300 cubic feet per second). The flood-detention reservoirs reduced the 100-year flood by an additional 17 percent (to 15,100 cubic feet per second). The simulation was accomplished by calibrating a precipitation-runoff model to observed rainfall and runoff during two separate periods (1934–40 and 1978–81). Comparisons of model simulations showed that differences between the model calibrations for the two periods were statistically significant at the 95 percent confidence level.