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101.
Natalie Jane Chandler Vijaya Ramachandran Clare Beesley Chineze Otigbah James Davison Tazeen Ashraf 《黑龙江环境通报》2023,43(12):1567-1569
Duo exome testing was performed on a fetus conceived via in vitro fertilization with an egg donor. The fetus presented with non-immune hydrops fetalis (NIHF) at 20 + 0 weeks gestation. Two variants were detected in the GUSB gene. Biallelic pathogenic variants cause mucopolysaccharidosis type VII (MPS-VII), which can present with NIHF prenatally. At the time of analysis and initial report, one variant was classified as likely pathogenic and the other as of uncertain clinical significance. Biochemical testing of the amniotic fluid supernatant showed elevated glycosaminoglycans and low β-glucuronidase activity consistent with the diagnosis of MPS-VII. This evidence allowed the upgrade of the pathogenicity for both variants, confirming the diagnosis of MPS-VII. The infant was born at 36 + 5 weeks and enzyme replacement therapy (ERT) using vestronidase was initiated at 20 days with planning for hematopoietic stem cell transplant ongoing. The ERT therapy has been well tolerated, with decreasing quantitative urine glycosaminoglycans. Long-term follow up is required to determine whether treatment has been successful. This case demonstrates the utility of alternative testing methods to clarify the pathogenicity of variants and the clinical utility of obtaining a diagnosis antenatally in facilitating treatment in the neonatal period, and specifically highlights MPS-VII as a treatable cause of NIHF. 相似文献
102.
Meharg AA Deacon C Edwards KJ Donaldson M Davidson DA Spring C Scrimgeour CM Feldmann J Rabb A 《Chemosphere》2006,64(11):1818-1828
The impact of ancient fertilization practices on the biogeochemistry of arable soils on the remote Scottish island of Hirta, St Kilda was investigated. The island was relatively unusual in that the inhabitants exploited seabird colonies for food, enabling high population densities to be sustained on a limited, and naturally poor, soil resource. A few other Scottish islands, the Faeroes and some Icelandic Islands, had similar cultural dependence on seabirds. Fertilization with human and animal waste streams (mainly peat ash and bird carcases) on Hirta over millennia has led to over-deepened, nutrient-rich soils (plaggen). This project set out to examine if this high rate of fertilization had adversely impacted the soil, and if so, to determine which waste streams were responsible. Arable soils were considerably elevated in Pb and Zn compared to non-arable soils. Using Pb isotope signatures and analysis of the waste streams, it was determined that this pollution came from peat and turf ash (Pb and Zn) and from bird carcases (Zn). This was also confirmed by 13C and 15N analysis of the profiles which showed that soil organic matter was highly enriched in marine-derived C and N compared to non-arable soils. The pollution of such a remote island may be typical of other ‘bird culture’ islands, and peat ash contamination of marginal arable soils at high latitudes may be widespread in terms of geographical area, but less intense at specific locations due to lower population densities than on Hirta. 相似文献
103.
PROBLEM: This study aimed to provide an assessment of the contribution of design to the occurrence of fatal work-related injuries in Australia. METHODS: The Australian National Coroners' Information System was the data source for fatal injuries. Deaths resulting from workplace injuries on or between 1 July 2000 and 30 June 2002 were included. RESULTS: Seventy seven (37%) of the 210 identified workplace fatalities definitely or probably had design-related issues involved. In another 29 (14%), the circumstances were suggestive that design issues were involved. The most common scenarios involved problems with rollover protective structures and/or associated seat belts; inadequate guarding; lack of residual current devices; inadequate fall protection; failed hydraulic lifting systems in vehicles and mobile equipment; and inadequate protection mechanisms on mobile plant and vehicles. SUMMARY: Design is a significant contributor to work-related fatal injury in Australia. There is considerable scope for preventing serious work-related injury through improving design of plant, equipment, and vehicles used for work-related purposes. 相似文献
104.
Fitzgerald EF Shrestha S Palmer PM Wilson LR Belanger EE Gomez MI Cayo MR Hwang SA 《Chemosphere》2011,85(2):225-231
A study was conducted to evaluate the association between PCBs in residential indoor air and in the serum of older, long time residents of three upper Hudson River communities. Samples of indoor air and of serum were collected from 170 persons 55 to 74 years of age, and analyzed for PCBs using glass capillary gas chromatography. After adjusting for age, BMI, cigarette smoking, and Hudson River fish consumption with multiple linear regression analysis, the results indicated statistically significant associations between concentrations in indoor air and serum for PCB-28, a lightly chlorinated congener common in air that accumulates in serum, and PCB-105. Duration of exposure was an important factor, since among persons who had lived in their home for 39 years or more, 11 of the 12 most commonly detected congeners were significantly correlated, as was their sum (∑ PCB). Significant associations between indoor air and serum PCB concentrations also were more likely when collected in cooler months and if the two samples were collected within 20 d of each other. The study is among the first to indicate that PCB concentrations characteristic of residential indoor air are associated with a detectable increase in body burden. 相似文献
105.
Wiersma GB White GJ Palmer D Burns DA 《Environmental pollution (Barking, Essex : 1987)》1995,87(2):151-158
A two-tiered, Teflon/nylon filterpack system was used to characterize spatial and temporal patterns of particulate nitrates and nitric acid vapors at two monitoring sites in the Rocky Mountains. Geometric means for particulate nitrates were 38.9 and 52.8 ng/m(3) for the upper and lower sites, respectively. For nitric acid, geometric means of 70.4 ng/m(3) for the upper site and 295 ng/m(3) for the lower site were observed. The relatively low concentrations found at these two sites are comparable to published values for these materials at other remote sites. Atmospheric concentrations of nitrates and nitric acid were correlated significantly at each site, and the total nitrate concentrations (NO(3)(-) plus HNO(3)) were correlated between sites. Comparisons between the two sites indicate that nitric acid concentrations were statistically greater at the lower elevation site, whereas nitrate concentrations were not significantly different. No general seasonal or annual pattern of nitrate or nitric acid concentrations were evident when comparable sampling periods were examined. 相似文献
106.
Ilan Kelman Robin Spence Jason Palmer Marla Petal Keiko Saito 《Journal of Coastal Conservation》2008,12(3):105-113
The 26 December 2004 tsunamis around the Indian Ocean exposed the vulnerability of many coastal communities, including those
serving tourists. To draw conclusions regarding disaster risk reduction for tourism in coastal areas, this study surveyed
international tourists who survived the tsunami regarding their perceptions and experiences of the disaster. Semi-structured
interviews were completed between January and June 2005 of 55 primary interviewees who were international tourists in locations
affected by the tsunami. The qualitative data from the interviews yielded commonalities across four main themes with relevance
to disaster risk reduction: information and awareness, warning systems, personal preparation, and livelihoods. Three areas
are suggested as topics to highlight for further investigation: the connections between sustainable tourism and disaster vulnerability,
the role of tourists in disasters, and disaster risk reduction education. 相似文献
107.
108.
This paper critically examines various methods for estimating productivity incorporating environmental effects for the Australian agricultural sector. The agricultural sector has been selected because of its strategic position in the economy of Australia. The findings of this study indicate that the application of environmentally adjusted productivity methods is a credible approach to measure productivity, in the context of sustainable development. Although the empirical findings of this research are case study specific, the results provide evidence supporting the adoption of these techniques to other sectors of the economy when measuring productivity and needing to be cognisant of sustainable development. The findings suggest that adjusting for the environmental impacts of soil erosion can result in higher or lower agricultural productivity depending on the assumptions we make regarding damage costs of erosion. It is argued in this paper that, for soil erosion in Australia, assumptions yielding higher productivity (i.e., upwardly adjusted) are justified. Finally, the findings of this study and the use of the methods presented point to important gaps in data availability. This gap needs to be addressed by policy makers if sustainable development objectives are to be credibly assessed using these techniques. 相似文献
109.
Ijeoma Favour Vincent-Akpu Andrew N. Tyler Clare Wilson Gillian Mackinnon 《毒物与环境化学》2015,97(2):135-144
Some physico-chemical properties and the concentrations of the metals Fe, Mn, Ni, Cd, Cr, Co, Cu, Pb, and Zn in water and sediments were examined from September 2011 to January 2012 in Bodo Creek, where oil spills have been recurrent. Temperature, pH, total dissolved solid, conductivity, salinity, dissolved oxygen, biological oxygen demand (BOD), chemical oxygen demand (COD), total hardness, sulfate, nitrate, and phosphate were determined in surface water. Particle size, total organic matter (TOM), and pH were also determined in the sediments. The parameters were within permissible limits except the mean values of BOD, COD, total hardness, and sulfate that exceeded levels permissible for domestic use. The sediments consisted mainly of sand, with TOM ranging from 0.2% to 5.5%. With the exception of cadmium that was below detection limit, metal levels (mg kg?1) in the sediments were 12 (Mn), 1070 (Fe), 10 (Cu), 10 (Zn), 5.3 (Cr), 1.1 (Pb), 1.0 (Ni), and 0.5 (Co) while in water they were 24, 98, 21, 6.9, 4.0, 0.6, 0.18, and 0.16, respectively. The latter were higher than World Health Organization recommended permissible levels for both surface and drinking water. 相似文献
110.
Recent federal policy proposals to reduce emissions of sulfur dioxide (SO(2)), nitrogen oxides (NO(x)), and mercury from the US electricity sector promise important improvements in air quality and reductions in acid deposition. The cost of achieving these reductions depends on the form and stringency of the regulation. In this research, we analyze the economic benefits and costs of the US Environmental Protection Agency's (EPA's) Clean Air Interstate Rule (CAIR) as characterized in the supplemental rule proposed in June 2004, and the Clean Air Mercury Rule (CAMR) as proposed in February 2004. The assessment integrates a model of the electricity sector, two models of atmospheric transport of air pollutants, and a model of environmental and public health endpoints affected by pollution. We model explicitly the emissions of SO(2), NO(x), mercury and carbon dioxide (CO(2)) and the effects of changes in emissions of SO(2) and NO(x) on environmental and public health. The manner in which mercury emissions are regulated will have important implications not only for the cost of the regulation, but also for emission levels for SO(2) and NO(x) and where those emissions are located. We find the economic benefits of CAIR and CAMR are far greater than the costs. Recent estimates of benefits of reductions in mercury and acidification indicate that our model captures the lion's share of quantifiable benefits. We also find that the EPA would have been justified on economic grounds in pursuing additional SO(2) emissions reductions beyond the requirements of CAIR. 相似文献