Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oli-gosaccharides was identical with that obtained with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique.     

First-trimester prenatal diagnosis of Sanfilippo C disease

At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl-CoA: α-glucosaminide N-acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow-up study on fetal fibroblasts confirmed the diagnosis.     

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.     

Respiratory physiology in summer diapause embryos of the neustonic copepodAnomalocera patersoni

The respiratory physiology of summer diapausing eggs of the neustonic copepodAnomalocera patersoni, maintained under constant temperature (13 °C) and light (12 h light:12 h dark) conditions, was characterized by a bell-shaped curve, with low O₂ uptake levels at the beginning of dormancy. This was followed by a steady rise in O₂ consumption with maximum levels of 0.002 l O₂ embryo^–1 h^–1 70 d after spawning. A slow diminution in O₂ uptake then occurred until Day 150 when minimum values of 0.0003 l O₂ embryo^–1 h^–1 were recorded, coinciding with the hatching of the first embryos. Embryos continued to hatch asynchronously up to 360 d from the moment of egg laying. When eggs were subjected to 20 °C, the respiratory activity was almost three times higher than at 13 °C, even though both respiratory curves were similar. The elevated metabolism in eggs kept at 20 °C led to death of the embryos possibly due to a total depletion of metabolic reserves. ATP content also differed at the two temperatures. Diapause eggs kept at 20 °C showed no rapid rise in ATP content as opposed to those kept at 13 °C. The results of temperature shock experiments, in which eggs were first kept at winter temperatures for several weeks, after which the temperature was raised to 20 °C for another number of weeks prior to a second period of chilling at 13 °C, showed that as long as embryos were kept at 20 °C no hatching occurred. By contrast, hatching was observed after 10 d following the resumption of winter temperatures, suggesting that low environmental temperatures are an essential prerequisite for hatching of these eggs. The type of diapause inA. patersoni differs considerably from the one described in insects and in another neustonic copepod,Pontella mediterrana. In this case, there is a U-shaped respiratory curve with greatest O₂ consumption prior to the onset or upon breaking of diapause. Differences in the two types of diapause seem to involve not only differences in O₂ consumption levels but also in the sequence of metabolic changes with time and the metabolic requirements during sommer and winter dormancy.     

Persistent organochlorines in beluga whales (Delphinapterus leucas) from the St Lawrence River estuary--II. Temporal trends, 1982-1994

Blubber samples from 16 dead beluga whales (Delphinapterus leucas) collected during 1993-1994 in the St Lawrence River estuary were analysed for PCB congeners and other persistent organochlorines (DDT-group, chlorinated bornanes (toxaphene, CHB), chlordane SigmaCHL), hexachloro-cyclohexanes (SigmaHCH), chlorobenzenes (SigmaCBz), tris(p-chlorophenyl methane (TPMe) and mirex). Concentrations and relative proportions of major individual organochlorine components were within the same range as previous results for this population. Temporal trends were studied by combining the results with data from the analysis of 44 samples (1986-1990) and (for DDT and Aroclor PCBs only) with 20 samples (1982-1985) reported by Martineau et al., 1987. Results were lipid normalized and then age-adjusted by an ANCOVA model. Significant relationships between age and concentrations of most organochlorine groups were found for females but not for males. Significant declines were observed in SigmaDDT, and Aroclor PCBs (1.5- and 1.9-fold, respectively) in males between the 1982-1985 and 1993-1994 collection periods. Significant declines were also observed for SigmaHCH and SigmaCBz in males between 1986-1988 and 1993-1994. Mean concentrations of CHBs were significantly higher in 1993-1994 than in earlier years while dieldrin, SigmaCHL, mirex, and TPMe showed no trend. Declines in concentrations of major organochlorine groups were not observed in females possibly because of higher year to year, and within year, variation. The temporal trend in DDT and PCB concentrations in male beluga blubber paralleled trends in seals, eels, and seabirds in the St Lawrence estuary observed during the 1980s.     

Long-term trends and sources of organochlorine contamination in Canadian tundra Peregrine Falcons, Falco peregrinus tundrius

Levels of eggshell thinning, and organochlorine residues in egg contents, blood plasma of adults and juveniles, tissue samples, and prey species were determined for a population of migratory Peregrine Falcons (Falco peregrinus tundrius) breeding in the Canadian Arctic. Temporal trends were assessed by comparing data collected during 1991-1994, with data from 1982-1986, for the same population. Shells (n=54) from 1991-1994 averaged 15% thinner than eggs produced prior to the introduction of DDT. No improvement in shell thickness was detected between decades. Mean DDE residue levels in eggs showed a decline from 7.6 mg kg (1982-1986) to 4.5 mg kg (1991-1994), but there was no significant change in SigmaPCB residues. Moreover, the proportion of clutches with eggs exceeding critical SigmaPCB, DDE, and dieldrin residue levels (10%) did not change between decades. Relative to Greenland and Alaskan populations, F. p. tundrius at Rankin Inlet show high levels of organochlorine contamination and little reduction in residues over the last decade. These Tundra Peregrines continue to be exposed to organochlorines in Latin America; however, results also link relatively high levels in the study population with waterfowl species that do not leave Canada in winter.     

The uptake of particulates by an urban woodland: site description and particulate composition

Woodlands may improve local air quality by increasing the uptake rates of gaseous, particulate and aerosol pollutants from the atmosphere and can also act as relatively permanent sinks for some pollutants. Rough Wood, Walsall was selected for a study of the material which accumulates on tree foliage because of its location in a densely populated urban area, and its proximity to a motorway with high traffic flow (the M6) and to other pollutant sources. Methods were developed for leaf washing to allow determination of the quantity of dust and the identification of the dust particles present on oak leaves. Elemental analysis of particles was also undertaken using scanning electron microscopy coupled with electron probe microanalysis. A large proportion of particles were organic in origin. Of the inorganic particles, the majority contained silicon and aluminium in varying proportions suggesting that they were soil derived. Some particles were clearly identified as the products of combustion, and sea or road salt was present on leaf surfaces. Some particles contained copper, tin and titanium which may reflect the proximity of Rough Wood to local metal workings. The number of particles counted on leaf surfaces decreased as distance from the motorway increased.     

Biomonitoring environmental contaminants near a municipal solid-waste combustor

Tetrachlorodibenzo-p-dioxin (TCDD), tetrachlorodibenzofuran (TCDF) and selected metal concentrations were measured in eggs and nestlings of anhingas (Anhinga anhinga) and white ibises (Eudocimus albus) collected from a colony next to a municipal solid-waste (MSW) combustor and ash landfill. Most of the measured residues, including TCDD, TCDF, arsenic, beryllium, cadmium and nickel, remained at pre-operational levels during the first five years of facility operation. Selenium (in anhingas) and mercury (in both anhingas and ibises) occurred at their lowest concentrations in samples collected during the fifth year of facility operation (Year-5). Alternatively, concentrations of lead in ibis nestlings were highest in Year-1 and Year-5 compared to Year-0. The MSW combustor could neither be ruled out nor confirmed as the source of this lead.