Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.     

Transforming open mining pits into fish farms: Moving towards sustainability

The legacy of mining activities has typically been land ‘returned to wildlife’, or, at some sites, degraded to such an extent that it is unsuitable for any alternate use. Progress towards sustainability is made when value is added in terms of the ecological, social and economic well‐being of the community. In keeping with the principles of sustainable development, the innovative use of flooded open pits and tailings impoundments as commercial, recreational or ornamental fish farms should be considered in some locations, as it could make a significant contribution to the social equity, economic vitality and environmental integrity of mining communities. This article highlights the growing significance of aquaculture and explores the benefits and barriers to transforming flooded pits and impoundments into aquaculture operations. Among other benefits, aquaculture may provide a much‐needed source of revenue, employment and, in some cases, food to communities impacted by mine closure. Further, aquaculture in a controlled closed environment may be more acceptable to critics of fish farming who are concerned about fish escapes and viral transmissions to wild populations. Despite the potential benefits, aquaculture in flooded pits and impoundments is not without its complications — it requires a site‐specific design approach that must consider issues ranging from metals uptake by fish, to the long‐term viability of the aquatic system as fish habitat, to the overall contribution of aquaculture to sustainability.     

Biological assessment of bisphenol A degradation in water following direct photolysis and UV advanced oxidation

Endocrine disrupting compounds (EDCs) are exogenous environmental chemicals that can interfere with normal hormone function and present a potential threat to both environmental and human health. The fate, distribution and degradation of EDCs is a subject of considerable investigation. To date, several studies have demonstrated that conventional water treatment processes are ineffective for removal of most EDCs and in some instances produce multiple unknown transformation products. In this study we have investigated the use of direct photolysis with low-pressure (LP) Hg UV lamps and UV+hydrogen peroxide (H(2)O(2)) advanced oxidation process (AOP) for the degradation of a prototypic endocrine disrupter, bisphenol A (BPA), in laboratory water. Removal rates of BPA and formation of degradation products were determined by high performance liquid chromatography (HPLC) analysis. Changes in estrogenic activity were evaluated using both in vitro yeast estrogen screen (YES) and in vivo vitellogenin (VTG) assays with Japanese medaka fish (Oryzias latipes). Our results demonstrate that UV alone did not effectively degrade BPA. However, UV in combination with H(2)O(2) significantly removed BPA parent compound and aqueous estrogenic activity in vitro and in vivo. Removal rates of in vivo estrogenic activity were significantly lower than those observed in vitro, demonstrating differential sensitivities of these bioassays and that certain UV/AOP metabolites may retain estrogenic activity. Furthermore, the UV/H(2)O(2) AOP was effective for reducing larval lethality in treated BPA solutions, suggesting BPA degradation occurred and that the degradation process did not result in the production of acutely toxic intermediates.     

Influence of water hardening of the chorion on cadmium accumulation in medaka (Oryzias latipes) eggs

This report describes a study in which in vitro fertilization methods were used to expose medaka (Oryzias latipes) eggs to cadmium (Cd(2+)). This approach was applied to address the differential sensitivity and cumulative potential of Cd(2+) when exposure was initiated early (before fertilization and water hardening of the chorion) versus later during embryo development (i.e., well after the chorion has undergone water hardening). Following range finding exposures (2.5, 10, 20, 40 or 80 mg/l) under artificially controlled experimental procedures, results from hatching success and embryo malformations showed the earlier exposure interval more sensitive than the assay involving only the embryonated egg. Subsequent accumulation studies have shown that the exposure initiated before fertilization apparently led to more Cd(2+) deposition in the chorion compared to the exposure during embryonated stages of the eggs. Similarly, values for total Cd(2+) indicated higher concentrations in those eggs exposed prior to--and during--water hardening. Results suggest an alteration of the properties of the zona radiata in the early-stage eggs, making it more permeable to the potential exit or entrance of waterborne agents even after water hardening. Ongoing studies must now address the development of more realistic exposure conditions of the gametes by using incubation media with osmolarities similar to surface waters, and by shortening duration for gamete exposure. Also, sensitive methods to localize Cd(2+) and to delineate the transfer from the chorion to the embryo are needed.     

Contrasting cesium dynamics in neighboring deep and shallow warm-water reservoirs

To measure the long term retention and seasonal dynamics of an initial 4 kg addition of ¹³³Cs into an 11.4-ha, 157,000 m³ reservoir (Pond 4, near Aiken, South Carolina, USA), the concentrations and inventories of ¹³³Cs in the water column were measured at periodical intervals for 522 days following the 1 August, 1999 release. After rapid declines in concentrations and inventories during the first 90 days, the ¹³³Cs concentrations in the water column declined at an average proportional rate of 0.004 d⁻¹. However, there were periods of less rapid and more rapid rates of declines, and these were correlated with periods of increasing and decreasing K concentrations in the water column. The decline rates were less and the K concentrations greater in the winter than in the summer. In the deeper, neighboring monomictic reservoirs of Par Pond and Pond B, a yearly cycle of increasing and decreasing ¹³⁷Cs concentrations in the water column is driven by anoxic remobilization of Cs from the sediments into a persistent summer hypolimnion. In Pond 4, whose mean depth of 1.6 m is too shallow to support a persistent anoxic hypolimnion, the pattern of yearly dynamics for K and Cs appear to be related to the accumulation and release of these elements from the extensive, seasonal macrophyte communities. The contrasting results between Pond 4 and Pond B suggest that a full appreciation of the relative importance of 1) anoxic remobilization and 2) accumulation and release by macrophytes in these systems remains to be established.     

Cesium accumulation by fish following acute input to lakes: a comparison of experimental and Chernobyl-impacted systems

An uptake parameter u (L kg⁻¹ d⁻¹) and a loss rate parameter k (d⁻¹) were estimated for the patterns of accumulation and loss of ¹³³Cs by three fish species following an experimental ¹³³Cs addition into a pond in South Carolina, USA. These u and k parameters were compared to similar estimates for fish from other experimental ponds and from lakes that received ¹³⁷Cs deposition from Chernobyl. Estimates of u from ponds and lakes declined with increasing potassium concentrations in the water column. Although loss rates were greater in the experimental ponds, the times required to reach maximum Cs concentrations in fish were similar between ponds and lakes, because ponds and lakes had similar retentions of Cs in the water column. The maximum Cs concentrations in fish were largely determined by initial Cs concentrations in the water column. These maximum concentrations in fish and the times required to reach these maxima are potentially useful indicators for assessments of risks to humans from fish consumption.     

The influence of a whole-lake addition of stable cesium on the remobilization of aged 137Cs in a contaminated reservoir

To document the short-term dynamics of Cs, 4 kg of (133)Cs were introduced into an 11.4-ha, 157 000 m(3) reservoir previously contaminated with (137)Cs from past reactor operations at the US Department of Energy's Savannah River Site near Aiken, South Carolina, USA. The (133)Cs addition resulted in an increase of 6.1 MBq of (137)Cs (1.9 mug (137)Cs) in the water column over the following 260 days. Possible sources for the increased (137)Cs included (1) release from the sediments, (2) release from the approximately 26 000 kg of aquatic macrophytes that occupied 80% of the reservoir, and (3) wash-in from the pond's watershed. Data are presented to indicate that release from the sediments was the principal source of the (137)Cs increase. The fraction of (137)Cs released from the sediments (0.7%) is consistent with laboratory measurements of (137)Cs desorption from neighboring ponds on the Savannah River Site.     

A comparison of 90Sr and 137Cs uptake in plants via three pathways at two Chernobyl-contaminated sites

Foliar absorption of resuspended 90Sr, root uptake and contamination adhering to leaf surfaces (i.e. soil loading) were compared at two Chernobyl-contaminated sites, Chistogalovka and Polesskoye. Although foliar absorption of resuspended 90Sr was quantifiable, its contribution amounted to less than 10% of the plants' total, above-ground contamination. Root uptake was 200 times greater than foliar absorption at the near-field site of Chistogalovka and eight times greater at Polesskoye, where the fallout consisted of the more soluble condensation-type, rather than fuel particles. Strontium's bioavailability exceeded that of 137Cs (analyzed in the same plants) by orders of magnitude when compared using concentration ratios. Simplistic, cumulative effective dose calculations for humans ingesting 90Sr- and 137Cs-contaminated plants revealed that the dose at Chistogalovka was greater from 90Sr (185 mSv vs. 3 mSv from 137Cs), while at Polesskoye the dose from 137Cs (66 mSv) was 30 times greater than from 90Sr (2 mSv).