We describe two fetuses from unrelated families with likely pathogenic variants in ITPR1 that presented with nonimmune fetal hydrops. Trio exome sequencing revealed a de novo heterozygous likely pathogenic missense variant c.7636G > A (p.Val2531Met) in ITPR1 (NM_001378452.1) in proband 1 and a de novo heterozygous likely pathogenic missense variant c.34G > A [p.Gly12Arg] in proband 2. Variants in ITPR1 have been associated with several genetic conditions, including spinocerebellar ataxia 15, spinocerebellar ataxia 29, and Gillespie syndrome. Our report on two patients details a previously undescribed severe fetal presentation of nonimmune hydrops fetalis associated with missense variants in the ITPR1 gene. 相似文献
Raw oysters are considered a culinary delicacy but are frequently the culprit in food-borne norovirus (NoV) infections. As commercial depuration procedures are currently unable to efficiently eliminate NoV from oysters, an optimisation of the process should be considered. This study addresses the ability of elevated water temperatures to enhance the elimination of NoV and Tulane virus (TuV) from Pacific oysters (Crassostrea gigas). Both viruses were experimentally bioaccumulated in oysters, which were thereafter depurated at 12 °C and 17 °C for 4 weeks. Infectious TuV and viral RNA were monitored weekly for 28 days by TCID50 and (PMAxx-) RT-qPCR, respectively. TuV RNA was more persistent than NoV and decreased by?<?0.5 log10 after 14 days, while NoV reductions were already?>?1.0 log10 at this time. For RT-qPCR there was no detectable benefit of elevated water temperatures or PMAxx for either virus (p?>?0.05). TuV TCID50 decreased steadily, and reductions were significantly different between the two temperatures (p?<?0.001). This was most evident on days 14 and 21 when reductions at 17 °C were 1.3–1.7 log10 higher than at 12 °C. After 3 weeks, reductions?>?3.0 log10 were observed at 17 °C, while at 12 °C reductions did not exceed 1.9 log10. The length of depuration also had an influence on virus numbers. TuV reductions increased from?<?1.0 log10 after seven days to?>?4.0 log10 after 4 weeks. This implies that an extension of the depuration period to more than seven days, possibly in combination with elevated water temperatures, may be beneficial for the inactivation and removal of viral pathogens.
Extensive aerosol optical properties, particle size distributions, and Aerodyne quadrupole aerosol mass spectrometer measurements collected during TRAMP/TexAQS 2006 were examined in light of collocated meteorological and chemical measurements. Much of the evident variability in the observed aerosol-related air quality is due to changing synoptic meteorological situations that direct emissions from various sources to the TRAMP site near the center of the Houston-Galveston-Brazoria (HGB) metropolitan area. In this study, five distinct long-term periods have been identified. During each of these periods, observed aerosol properties have implications that are of interest to environmental quality management agencies. During three of the periods, long range transport (LRT), both intra-continental and intercontinental, appears to have played an important role in producing the observed aerosol. During late August 2006, southerly winds brought super-micron Saharan dust and sea salt to the HGB area, adding mass to fine particulate matter (PM2.5) measurements, but apparently not affecting secondary particle growth or gas-phase air pollution. A second type of LRT was associated with northerly winds in early September 2006 and with increased ozone and sub-micron particulate matter in the HGB area. Later in the study, LRT of emissions from wildfires appeared to increase the abundance of absorbing aerosols (and carbon monoxide and other chemical tracers) in the HGB area. However, the greatest impacts on Houston PM2.5 air quality are caused by periods with low-wind-speed sea breeze circulation or winds that directly transport pollutants from major industrial areas, i.e., the Houston Ship Channel, into the city center. 相似文献
In a sex role reversed pipefish, Syngnathus typhle, we found that basic life history allocations were directly influenced by sexual selection. We investigated time allocation to foraging and mating, respectively, in a choice experiment, giving males and females, of small or large body size, a choice between food and a potential partner. We found that males were more interested in foraging than mating, i.e., were more frequently observed in front of the food than in front of the partner, whereas females were more interested in the potential partner. This reflects sexual selection operating differently on the two sexes, as males and females are relatively similar in other life history traits, such as growth, mortality, age of maturity, dispersal, and parental expenditure. Moreover, large individuals allocated more time to mating activities, small to feeding. Individuals more interested in mating compared to food were subsequently more critical when given a choice between a large (high-quality) and a small (low-quality) partner, whereas individuals more interested in food were not selective. These findings are consistent with our predictions: sex-role reversed males can be relatively sure of achieving one or more matings, and should allocate more time to feeding and, hence, to parental investment, growth and/or future reproduction. Females, on the other hand, have more uncertain mating prospects and should allocate time to imminent reproductive activities, thereby foregoing other life history traits such as growth and future egg production. By this, they also sacrifice future fecundity and attractiveness. 相似文献
The Ecological Society of America has evaluated current U.S. national policies and practices on biological invasions in light of current scientific knowledge. Invasions by harmful nonnative species are increasing in number and area affected; the damages to ecosystems, economic activity, and human welfare are accumulating. Without improved strategies based on recent scientific advances and increased investments to counter invasions, harm from invasive species is likely to accelerate. Federal leadership, with the cooperation of state and local governments, is required to increase the effectiveness of prevention of invasions, detect and respond quickly to new potentially harmful invasions, control and slow the spread of existing invasions, and provide a national center to ensure that these efforts are coordinated and cost effective. Specifically, the Ecological Society of America recommends that the federal government take the following six actions: (1) Use new information and practices to better manage commercial and other pathways to reduce the transport and release of potentially harmful species; (2) Adopt more quantitative procedures for risk analysis and apply them to every species proposed for importation into the country; (3) Use new cost-effective diagnostic technologies to increase active surveillance and sharing of information about invasive species so that responses to new invasions can be more rapid and effective; (4) Create new legal authority and provide emergency funding to support rapid responses to emerging invasions; (5) Provide funding and incentives for cost-effective programs to slow the spread of existing invasive species in order to protect still uninvaded ecosystems, social and industrial infrastructure, and human welfare; and (6) Establish a National Center for Invasive Species Management (under the existing National Invasive Species Council) to coordinate and lead improvements in federal, state, and international policies on invasive species. Recent scientific and technical advances provide a sound basis for more cost-effective national responses to invasive species. Greater investments in improved technology and management practices would be more than repaid by reduced damages from current and future invasive species. The Ecological Society of America is committed to assist all levels of government and provide scientific advice to improve all aspects of invasive-species management. 相似文献
As more and more organizations with responsibility for natural resource management adopt adaptive management as the rubric in which they wish to operate, it becomes increasingly important to consider the sources of uncertainty inherent in their endeavors. Without recognizing that uncertainty originates both in the natural world and in human undertakings, efforts to manage adaptively at the least will prove frustrating and at the worst will prove damaging to the very natural resources that are the management targets. There will be more surprises and those surprises potentially may prove at the very least unwanted and at the worst devastating. We illustrate how acknowledging uncertainty associated with the natural world is necessary but not sufficient to avoid surprise using case studies of efforts to manage three wildlife species; Hector's Dolphins, American Alligators and Pallid Sturgeon. Three characteristics of indeterminism are salient to all of them; non-stationarity, irreducibility and an inability to define objective probabilities. As an antidote, we recommend employing a holistic treatment of indeterminism, that includes recognizing that uncertainty originates in ecological systems and in how people perceive, interact and decide about the natural world of which they are integral players. 相似文献
An empirical model of landowners' conservation incentive program choice is developed in which information about landowners' socio-economic and property characteristics and their attitudes, is combined with incentive program attributes. In a Choice survey landowners were presented with the choice of two incentive programs modelled as 'bundles of attributes' mimicking a voluntary choice scenario. Landowner behaviour and decision and the type of conditions and regulations they preferred were analyzed. Based on choice survey data, landowner heterogeneity was accounted for using a latent class approach to estimate the preference parameters. Three latent classes of landowners with different attitudes to the role and outcome of establishing conservation reserves on private land were identified: multi-objective owners; environment owners; and production owners. Only a small proportion of landowners, mostly environment owners, would voluntarily join a program. Although compensation funding contributed to voluntary program choice for multi-objective owners and environment owners, welfare losses were around 4000 AUD per hectare, which is less than the average agricultural land value in Tasmania. Landowners for whom compensation funding contributed to voluntary program choice were also most likely to set aside land for conservation without payment. This raises the possibility that the government's compensation expenditure could potentially be either reduced or re-allocated to landowners who will not voluntarily take conservation action. Increasing participation in conservation incentive programs and minimizing the welfare losses associated with meeting conservation targets may be best achieved by offering programs that allow flexibility in terms of legal arrangements and other program attributes. 相似文献
Shallow reefs (reef flats <1.5 m) in the northern Red Sea are impacted by growing tourism that includes swimmers, snorkellers and reef walkers but have largely been neglected in past studies. We selected a fringing reef along the lagoon of Dahab (Sinai, Egypt) as a model for a management strategy. Point-intercept line transects were used to determine substrate composition, coral community and condition, and the coral damage index (CDI) was applied. Approximately 84% of the coral colonies showed signs of damage such as breakage, partial mortality or algal overgrowth, especially affecting the most frequent coral genus Acropora. Questionnaires were used to determine the visitors' socio-economic background and personal attitudes regarding snorkelling, SCUBA-diving and interest in visiting a prospective snorkelling trail. Experiencing nature (97%) was by far the strongest motivation, and interest in further education about reef ecology and skill training was high. Less experienced snorkellers and divers--the target group for further education and skill training--were those most prepared to financially support such a trail. We therefore recommend a guided underwater snorkelling trail and restricting recreational use to a less sensitive 'ecotourism zone' while protecting the shallow reef flat. Artificial structures can complete the trail and offer the opportunity to snorkel over deeper areas at unfavourable tide or wind conditions. This approach provides a strategy for the management and conservation of shallow-water reefs, which are facing increasing human impact here and elsewhere. 相似文献
Models can be used to direct the management of population spread for the control of invasives or to encourage species of conservation value. Analytical models are attractive because of their theoretical basis and limited data requirements, but there is concern that their simplicity may limit their practical utility. We address the applied use of simple models in a study of a declining annual herb, Rhinanthus minor. We parameterized a population-spread model using field data on demography and dispersal for four management systems: grazed only (GR), hay-cut once (H1), hay-cut twice (H2), and hay-cut with autumn grazing (HG). Within a replicated experiment we measured spread rates of introduced R. minor populations over eight years. The modeled and measured spread rates were very similar in terms of both patterns of management effects and absolute values, so that in both cases HG > H2, H1 > GR. The treatments affected both dispersal and demography (establishment and survival) and so we used decomposition approaches to analyze the major causes of differences in population spread. Increased dispersal under hay-cutting was more important than demographic changes and accounted for approximately 70% of the differences in spread rate between the hay-cut and grazed-only treatments. Furthermore, management effects on the tail of the dispersal curve were by far the most critical in governing spread. This study suggests that simple models can be used to inform practical conservation management, and we demonstrate straightforward uses of our model to predict the impacts of different management strategies. While simple models can give accurate projections, we emphasize that they must be parameterized with high-quality data gathered at the appropriate spatial scale. 相似文献