Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.     

Erratum

Naturwissenschaften Aktuell     

CLIMATE CHANGE AND NATURAL HAZARDS IN NORTHERN CANADA: INTEGRATING INDIGENOUS PERSPECTIVES WITH GOVERNMENT POLICY

A study of the relationship between natural hazards and climate change in the international context provides the background for a discussion of the expected changes. In the context of this global discussion, this paper reviews the current perspectives of those natural hazards that are likely to be influenced by climate change, using northern Canada as a regional case study. The northern implications of the United Nations Framework Convention on Climate Change are examined, including the status of climate change action by the northern territorial governments, the evolving role of indigenous people, and the responsibility for climate change impacts. The difficulties surrounding natural hazards research in remote locations, and the approaches of indigenous people to natural hazards are then presented. The paper concludes with a suggested policy approach for climate change and natural hazards in northern Canada, underscoring the need for more comprehensive adaptive strategies to complement the current tendency to focus on the mitigation of greenhouse gases produced in this region.     

Deposition velocities for full-scale corn and soybean canopies: A wind tunnel simulation

Deposition velocities have been determined for corn and soybeans in the first 4–6 weeks of growth in a full-scale study of canopy flow in a wind tunnel. Particles of 1, 5, 10 and 15 μm aerodynamic diameter made of sodium florescein were injected into the Environmental Wind Tunnel Facility at Colorado State University. Deposition velocities were determined as a function of free stream velocity (183, 305 and 610 cm/s) and approach flow turbulence intensity (～1% and 8%). Plants were arranged in realistic field configurations. Hot-wire anemometer studies confirmed that the fluid velocity profiles developed in the wind tunnel were similar to the flow realized in canopies in natural fields. An increase in velocity and turbulence intensity was found to decrease the deposition velocities. A minimum deposition velocity was observed at a particle diameter of 5 μm.     

Oil/Suspended Particulate Material Interactions and Sedimentation

The interactions of physically dispersed oil droplets with suspended particulate material (SPM) can be important for the transport of bulk quantities of spilled crude oil and polycyclic aromatic hydrocarbons (PAH) to subtidal sediments. The literature regarding oil/SPM interactions is reviewed, and results from whole-oil droplet/SPM interaction kinetics and pure-component (Prudhoe Bay crude oil distillate cut) equilibrium partitioning experiments are presented. The effects of oil type, SPM characteristics, and salinity on the interaction rates are examined, and the importance of whole-oil droplet/SPM interactions on particle agglomeration and settling behavior are discussed. Whole-oil droplet/SPM interactions are retarded as oil droplet dispersion into the water column is inhibited by oil viscosity increases due to evaporation weathering and water-in-oil emulsification. Compared to whole oil droplet/SPM interactions, dissolved-component/SPM adsorption is not as significant for transport of individual components to sediments. The information presented in this paper can be used to augment computer-based models designed to predict oil-spill trajectories, oil-weathering behavior, and spilled oil impacts to the marine environment.     

Pilot‐scale demonstration of in situ capping of PCB‐containing sediments in the lower Grasse River

A fish‐consumption advisory is currently in effect in a seven‐mile stretch of the Grasse River in Massena, New York, due to elevated levels of PCBs in fish tissue. One remedial approach that is being evaluated to reduce the PCB levels in fish from the river is in situ capping. An in‐river pilot study was conducted in the summer of 2001 to assess the feasibility of capping PCB‐containing sediments of the river. The study consisted of the construction of a subaqueous cap in a seven‐acre portion of the river using various combinations of capping materials and placement techniques. Optimal results were achieved with a 1:1 sand/topsoil mix released from a clamshell bucket either just above or several feet below the water surface. A longer‐term monitoring program of the capped area commenced in 2002. Results of this monitoring indicated: 1) the in‐place cap has remained intact since installation; 2) no evidence of PCB migration into and through the cap; 3) groundwater advection through the cap is not an important PCB transport mechanism; and 4) macroinvertebrate colonization of the in‐place cap is continuing. Additional follow‐up monitoring in the spring of 2003 indicated that a significant portion of the cap and, in some cases, the underlying sediments had been disturbed in the period following the conclusion of the 2002 monitoring work. An analysis of river conditions in the spring of 2003 indicated that a significant ice jam had formed in the river directly over the capping pilot study area, and that the resulting increase in river velocities and turbulence in the area resulted in the movement of both cap materials and the underlying sediments. The pilot cap was not designed to address ice jam–related forces on the cap, as the occurrence of ice jams in this section of the river had not been known prior to the observations conducted in the spring of 2003. These findings will preclude implementation of the longer‐term monitoring program that had been envisioned for the pilot study. The data collected immediately after cap construction in 2001 and through the first year of monitoring in 2002 serve as the basis for the conclusions presented in this article. It should be recognized that, based on the observation made in the spring of 2003, some of these conclusions are no longer valid for the pilot study area.The occurrence of ice jams in the lower Grasse River and their importance on sediments and PCBs within the system are currently under investigation. © 2003 Wiley Periodicals, Inc.     

INCORPORATING NATURAL VARIABILITY,UNCERTAINTY, AND RISK INTO WATER QUALITY EVALUATIONS USING DURATION CURVES1

ABSTRACT: Quantifying natural variability, uncertainty, and risk with minimal data is one of the greatest challenges facing those engaged in water quality evaluations, such as development of total maximum daily loads (TMDL), because of regulatory, natural, and analytical constraints. Quantification of uncertainty and variability in natural systems is illustrated using duration curves (DCs), plots that illustrate the percent of time that a particular flow rate (FDC), concentration (CDC), or load rate (LDC; “TMDL”) is exceeded, and are constructed using simple derived distributions. Duration curves require different construction methods and interpretations, depending on whether there is a statistically significant correlation between concentration (C) and flow (Q), and on the sign of the C‐Q regression slope (positive or negative). Flow DCs computed from annual runoff data vary compared with an FDC developed using all data. Percent exceedance for DCs can correspond to risk; however, DCs are not composed of independent quantities. Confidence intervals of data about a regression line can be used to develop confidence limits for the CDC and LDC. An alternate expression to a fixed TMDL is suggested as the risk of a load rate being exceeded and lying between confidence limits. Averages over partial ranges of DCs are also suggested as an alternative expression of TMDLs. DCs can be used to quantify watershed response in terms of changes in exceedances, concentrations, and load rates after implementation of best management practices.     

USE OF STAGE DATA TO CHARACTERIZE HYDROLOGIC CONDITIONS IN AN URBANIZING ENVIRONMENT1

ABSTRACT: This paper presents the results of a study on the use of continuous stage data to describe the relation between urban development and three aspects of hydrologic condition that are thought to influence stream ecosystems—overall stage variability, stream flashiness, and the duration of extreme‐stage conditions. This relation is examined using data from more than 70 watersheds in three contrasting environmental settings—the humid Northeast (the metropolitan Boston, Massachusetts, area); the very humid Southeast (the metropolitan Birmingham, Alabama, area); and the semiarid West (the metropolitan Salt Lake City, Utah, area). Results from the Birmingham and Boston studies provide evidence linking increased urbanization with stream flashiness. Fragmentation of developed land cover patches appears to ameliorate the effects of urbanization on overall variability and flashiness. There was less success in relating urbanization and streamflow conditions in the Salt Lake City study. A related investigation of six North Carolina sites with long term discharge and stage data indicated that hydrologic condition metrics developed using continuous stage data are comparable to flow based metrics, particularly for stream flashiness measures.