Exclusion of chromosomal mosaicism in amniotic fluid cultures: Efficacy of in situ versus flask techniques

Accurate diagnosis of mosaicism in amniotic fluid cell cultures represents a major problem. If insufficient cells are analysed, true fetal mosaicism may go undetected. False-positive diagnosis is also possible since a second cell line may arise in vitro and not reflect the true fetal genetic constitution. These difficulties apply to both flask and in situ culture techniques, to varying degrees. The relative accuracy of flask versus in situ culture techniques in excluding mosaicism was determined by statistical analysis of experimental data from ten pairs of mixed male-female amniotic fluid specimens. The data support the idea that the majority of in situ colonies are independent of one another. The following conclusions are drawn: (1) analysis of a single metaphase from a number of different colonies enhances the confidence for excluding mosaicism; (2) analysis of more than one cell per colony offers little advantage; (3) exclusion of a given level of mosaicism requires analysis of fewer metaphases using the in situ method; (4) the confidence for excluding mosaicism is high with both in situ and flask techniques, using the provided guidelines; and (5) it is shown that the two-stage approach used by many laboratories is currently the most efficient way to exclude mosaicism.     

Maternal serum thyroid antibodies in early pregnancy and fetal Down's syndrome

Thyroid antibodies were measured in mid-trimester antenatal serum samples from 77 pregnancies affected by fetal Down's syndrome and 385 unaffected control pregnancies. Using a haemagglutination technique, thyroglobulin antibodies were detected in 5·2 per cent of cases (4) and 2·9 per cent of controls (11), and thyroid microsomal antibodies were detected in 22 per cent (17) and 15 per cent (59), respectively. Using an enzyme-linked immunosorbent assay (ELISA) for thyroglobulin antibodies and a cut-off level of 50 KIU/1, positive results were found in 25 per cent of cases (19) and 22 per cent of controls (84). Using an ELISA for thyroid microsomal antibodies and the same cut-off level, the proportions were 52 per cent (40) and 39 per cent (149), respectively. While not statistically significant, the differences were consistent with the previously reported increased levels of thyroid antibody found in nonpregnant women who had had pregnancies associated with Down's syndrome.     

Antenatal diagnosis of a de novo paracentric inversion of chromosome 11

A de novo paracentric inversion of chromosome 11 identified through antenatal diagnosis is described along with long-term follow-up information on the child and discussion of reported experiences with de novo inversions.     

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.     

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.     

A “source” for asteroid larvae?: recruitment of Pisaster ochraceus,Pycnopodia helianthoides and Dermasterias imbricata in Nootka Sound,British Columbia

A major recruitment of the forcipulate asteroid Pisaster ochraceus was observed in September 1987 in the channel leading into Boca del Infierno, a semi-enclosed bay on the southeastern shore of Nootka Island, on the west coast of Vancouver Island, British Columbia, Canada. Newly settled recruits were observed at high densities subtidally in the channel (mean maximal density=1.23x10⁴m^-2) and at nearby sites. Subsequent surveys in 1988 to 1991 and size-frequency distributions of adults indicated strong yearly recruitment of P. ochraceus. Recruits of P. ochraceus were found on all available substrata, including hard and soft bottoms and on benthic algae. The initial food of the recruits included newly settled mussels (Mytilus sp.), snails and barnacles. Recruitment of the forcipulate Pycnopodia helianthoides was observed in 1987 to 1989 and in 1991, while recruitment of the spinulosan Dermasterias imbricata occurred only in 1988. High densities of planktonic bipinnaria larvae were found in the bay of Boca del Infierno in late May. We hypothesise that the high density population of adult P. ochraceus found in the channel of Boca del Infierno spawns synchronously and most of the resulting embryos and larvae are retained within the bay. This area may act as a source of larvae that then disperse locally. Post-recruitment mortality was estimated by comparing the density of recruits of P. ochraceus in 1987 with the numbers of juveniles presumed to be 1 yr old in 1988. Post-recruitment mortality was in excess of 97% with few individuals surviving to 1 yr. Moreover, even after the first year, mortality or emigration of the juveniles resulted in the almost complete loss of the 1-yr cohort at North Saavedra between 1988 and 1989. This study provides evidence that the P. ochraceus population in this area of Nootka Island may not be open, but may be regularly supplied from a source of larvae in the bay of Boca del Infierno. Post-settlement processes may, however, have significant effects on the local population, resulting in a poor correlation between the rate of recruitment and the incorporation of yr-1 + individuals into the adult population.     

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.