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.     

Groundwater Remediation and Aquifer Clean-Up: A Case Study

Groundwater was being remediated with pump and treat technology at a facility where the groundwater was contaminated with commonly used degreaser solvents. Hydraulic conductivity of the heterogeneous residuum was beneficiated by applying pneumatic fracturing technology. The remedial system was controlled and monitored by a sophisticated remote telemetry system. A case history follows.     

Change in vegetation cover in East Timor, 1989–1999

Forest resources play a key role and provide many basic needs to communities in developing economies. To assess the patterns of vegetation cover change, as a corollary of resource utilization, satellite imagery, ground truth data, and image processing techniques can be useful. This article is concerned with identifying change in major vegetation types in East Timor between 1989 and 1999, using Landsat Thematic Mapper data. The results highlight a significant level of deforestation and decline in foliage cover. All major vegetation cover types declined from 1989 to 1999, and there was a sizeable increase in degraded woodlands. This decline has had considerable impact on the livelihoods of rural and urban communities. Causes for these changes include: economic exploitation of abundant resources; and implications of transmigration policies implemented during Indonesian rule, resulting in increased competition for land and woodland resources. As the new nation of Timor‐Leste establishes itself, it must consider its current stock and distribution of natural capital to ensure that development efforts are geared towards sustainable outcomes. Without the knowledge of historical patterns of resource consumption, development efforts may, unwittingly, lead to continuing decline in forest resources.     

MODELING THE IMPACT OF MULTICOMPONENT VOCs ON GROUND WATER USING THE STEFAN‐MAXWELL EQUATION1

ABSTRACT: Computer programs that model the fate and transport of organic contaminants through porous media typically use Fick's first law to calculate vapor phase diffusion. Fick's first law, however, is limited to the case of a single, dilute species diffusing into a stagnant, high concentration, bulk vapor phase. When dealing with more than one diffusing species and at higher concentrations, the multicomponent coupling effects on vapor phase diffusion and advection of the various constituents become significant. VLEACH, a one‐dimensional finite difference model developed for the U.S. Environmental Protection Agency (USEPA), is typical of the models using Fick's first law to model vapor‐phase diffusion. The VLEACH model was modified to accommodate up to 10 components and to calculate the binary diffusion coefficients for each of the components based on molecular weight, molecular volume, temperature and pressure, and to address the coupling effects on multiple component vapor phase diffusion and its impact on ground water. The resulting model was renamed MC‐CHEMSOIL. At low vapor phase concentrations, MC‐CHEMSOIL predicts identical ground water impacts (dissolved phase loading) to those from VLEACH 2.2a. At higher vapor phase concentrations, however, the relative difference between the models exceeded 20 percent.     

NITRATE CONCENTRATIONS IN ILLINOIS RIVERS 1967 TO 1974: COMPARISON AMONG REPORTING AGENCIES1

ABSTRACT: Long term data on surface water quality can sometimes be assembled by combining data collected by different agencies at different times and assuming that between agency differences in data quality are insignificant. The objective of this paper was to assess the quality of riverine nitrate (NO₃) concentrations in Illinois measured and reported by four agencies from 1967 to 1974 by comparing median values for similar sampling locations and periods. A total of 17 river reaches were identified for which two agencies reported NO₃ concentrations during similar periods. Nonparametric comparison of median values and analysis of covariance with discharge as a covariant produced similar results. Nitrate concentrations reported by the U.S. Geological Survey (USGS) from 1967 to 1971 were not statistically (P > 0.05) different from values reported by the Illinois State Water Survey (ISWS) for two of three river reaches. Additionally, NO₃ concentrations reported by USGS from 1972 to 1974 were not statistically different than concentrations reported by the Illinois Environmental Protection Agency (IEPA) for four of five river reaches. From 1969 to 1971, NO₃ concentrations reported by the Illinois Department of Public Heath and the Illinois Environmental Protection Agency (IDPH/IEPA) were less than one‐fourth the magnitude of values reported by ISWS. The median NO₃ concentrations measured by the Central Illinois Public Service (CIPS) were significantly greater than those measured by USGS and IDPH/IEPA in the three comparable sampling locations. The use of NO₃ concentrations measured by CIPS and IDPH/IEPA prior to 1972 is not recommended.     

A concept for simultaneous wasteland reclamation, fuel production, and socio-economic development in degraded areas in India: Need, potential and perspectives of Jatropha plantations

The concept of substituting bio‐diesel produced from plantations on eroded soils for conventional diesel fuel has gained wide‐spread attention in India. In recent months, the Indian central Government as well as some state governments have expressed their support for bringing marginal lands, which cannot be used for food production, under cultivation for this purpose. Jatropha curcas is a well established plant in India. It produces oil‐rich seeds, is known to thrive on eroded lands, and to require only limited amounts of water, nutrients and capital inputs. This plant offers the option both to cultivate wastelands and to produce vegetable oil suitable for conversion to bio‐diesel. More versatile than hydrogen and new propulsion systems such as fuel cell technology, bio‐diesel can be used in today's vehicle fleets worldwide and may also offer a viable path to sustainable transportation, i.e., lower greenhouse gas emissions and enhanced mobility, even in remote areas. Mitigation of global warming and the creation of new regional employment opportunities can be important cornerstones of any forward looking transportation system for emerging economies.     

The role of scientists in statutory interpretation of the U.S. Endangered Species Act

Like many federal statutes, the U.S. Endangered Species Act (ESA) contains vague or ambiguous language. The meaning imparted to the ESA's unclear language can profoundly impact the fates of endangered and threatened species. Hence, conservation scientists should contribute to the interpretation of the ESA when vague or ambiguous language contains scientific words or refers to scientific concepts. Scientists need to know at least these 2 facts about statutory interpretation: statutory interpretation is subjective and the potential influence of normative values results in different expectations for the parties involved. With the possible exception of judges, all conventional participants in statutory interpretation are serving their own interests, advocating for their preferred policies, or biased. Hence, scientists can play a unique role by informing the interpretative process with objective, policy‐neutral information. Conversely, scientists may act as advocates for their preferred interpretation of unclear statutory language. The different roles scientists might play in statutory interpretation raise the issues of advocacy and competency. Advocating for a preferred statutory interpretation is legitimate political behavior by scientists, but statutory interpretation can be strongly influenced by normative values. Therefore, scientists must be careful not to commit stealth policy advocacy. Most conservation scientists lack demonstrable competence in statutory interpretation and therefore should consult or collaborate with lawyers when interpreting statutes. Professional scientific societies are widely perceived by the public as unbiased sources of objective information. Therefore, professional scientific societies should remain policy neutral and present all interpretations of unclear statutory language; explain the semantics and science both supporting and contradicting each interpretation; and describe the potential consequences of implementing each interpretation. A review of scientists’ interpretations of the phrase “significant portion of its range” in the ESA is used to critique the role of scientists and professional societies in statutory interpretation.     

Emerging technology for increasing glucosinolates in arugula and mustard greens

Two plant species, arugula (Eruca sativa) and mustard (Brassica juncea) were field-grown under four soil management practices: soil mixed with municipal sewage sludge (SS), soil mixed with horse manure (HM), soil mixed with chicken manure (CM), and no-mulch bare soil (NM) to investigate the impact of soil amendments on the concentration of glucosinolates (GSLs) in their shoots. GSLs, hydrophilic plant secondary metabolites in arugula and mustard were extracted using boiling methanol and separated by adsorption on sephadex ion exchange disposable pipette tips filled with DEAE, a weak base, with a net positive charge that exchange anions such as GSLs. Quantification of GSLs was based on inactivation of arugula and mustard myrosinase and liberation of the glucose moiety from the GSLs molecule by addition of standardized myrosinase (thioglucosidase) and spectrophotometric quantification of the liberated glucose moiety. Overall, GSLs concentrations were significantly greater (1287 µg g^?1 fresh shoots) in plants grown in SS compared to 929, 890, and 981 µg g^?1 fresh shoots in plants grown in CM, HM, and NM soil, respectively. Results also revealed that mustard shoots contained greater concentrations of GSLs (974 µg g^?1 fresh shoots) compared to arugula (651 µg g^?1 fresh shoots).