Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, which can be shared with the genomics community to aid optimised standards of PGT services for couples.
Method
The EQAs were provided in two stages to mimic end-to-end protocols. Stage 1 involved DNA feasibility testing of a couple undergoing PGT and affected proband. Participants were required to report genotyping results and outline their embryo testing strategy. Lymphoblasts were distributed for mock embryo testing for stage 2. Submitted clinical reports and haplotyping results were assessed against peer-ratified criteria. Performance was monitored to identify poor performance.
Results
The most common testing methodology was short tandem repeat linkage analysis (59%); however, the adoption of single nucleotide polymorphism-based platforms was observed and a move from blastomere to trophectoderm testing. There was a variation in testing strategies, assigning marker informativity and understanding test limitations, some clinically unsafe. Critical errors were reported for genotyping and interpretation.
Conclusion
EQA provides an overview of the standard of preimplantation genetic testing-M clinical testing and identifies areas of improvement for accurate detection of high-risk embryos. 相似文献
A number of opportunities exist for involving the public in environmental monitoring. This paper outlines some examples where this has been done, evaluates these examples, and then summarizes some of the benefits as well as the disadvantages of this approach. 相似文献
Understanding the factors that affect biological recovery from environmental stressors such as acidification is an important challenge in ecology. Here we report on zooplankton community recovery following the experimental acidification of Little Rock Lake, Wisconsin, USA. One decade following cessation of acid additions to the northern basin of Little Rock Lake (LRL), recovery of the zooplankton community was complete. Approximately 40% of zooplankton species in the lake exhibited a recovery lag in which biological recovery to reference basin levels was delayed by 1-6 yr after pH recovered to the level at which the species originally responded. Delays in recovery such as those we observed in LRL may be attributable to "biological resistance" wherein establishment of viable populations of key acid-sensitive species following water quality improvements is prevented by other components of the community that thrived during acidification. Indeed, we observed that the recovery of species that thrived during acidification tended to precede recovery of species that declined during acidification. In addition, correspondence analysis indicated that the zooplankton community followed different pathways during acidification and recovery, suggesting that there is substantial hysteresis in zooplankton recovery from acidification. By providing an example of a relatively rapid recovery from short-term acidification, zooplankton community recovery from experimental acidification in LRL generally reinforces the positive outlook for recovery reported for other acidified lakes. 相似文献
To assess the risk of a pesticide to leach to groundwater or to run off to surface water after application, it is necessary to characterize the sorption of the pesticide to soil. For pyrethroids, their hydrophobicity, strong sorption to various materials, and low solubility make it difficult to accurately characterize sorption processes. The objective of this research was to evaluate the variability in cyfluthrin ((RS)-alpha -cyano-4-fluoro-3-phenoxybenzyl (1RS,3RS;1RS,3SR)-3-(2,2-dichlorovinyl)-2,2-dimethylcyclopropanecarboxylate) sorption to soil as affected by experiment conditions. To minimize cyfluthrin sorption on the walls of glass, silanized-glass, stainless steel, and PTFE centrifuge tubes, cyfluthrin solution was added to aqueous soil slurries or directly to soil, after which it was equilibrated with aqueous solution. Depending on the soil, variation in sorption coefficients, Koc, obtained using different experimental methodologies with one soil can be comparable to the variation in Koc values obtained for soils with different physical and chemical properties using one method. Koc values for cyfluthrin ranged from 56,000 to 300,000 L kg-1. Sorption methodology needs to be evaluated before sorption coefficients are used in predictive transport models. 相似文献
Food and Environmental Virology - Salivirus (SalV) is a newly discovered virus associated to acute gastroenteritis in humans. In Italy, its prevalence and genetic diversity is unknown. To reduce... 相似文献
Objectives: This study reports the results of a pilot program in Kenosha County that used a combination of direct biomarkers extracted from blood spots and nails to monitor repeat intoxicated drivers for their use of alcohol and drugs with a detection window spanning from 3 weeks to several months. The objectives were to test whether the direct biomarkers phosphatidylethanol (PEth), ethylglucuronide (EtG), and 5 drug metabolites would (1) help assessors obtain a more objective evaluation of repeat offenders during the assessment interview, (2) allow for timely identification of relapses and improve classification of drivers into risk categories, and (3) predict recidivism by identifying offenders most likely to obtain a subsequent operating while intoxicated (OWI) offense within 4 years of enrollment in the program.
Methods: All (N = 261) repeat offenders were tested using PEth obtained from blood spots and EtG obtained from fingernails; 159 participants were also tested for a 5 drugs of abuse nail panel. Drivers were tested immediately after the assessment interview (baseline) and at 3, 6, 9, and 12 months after baseline. Based on biomarker results and self-reports of abstinence, offenders were classified into different risk categories and required to follow specific testing timelines based on the program's decision tree.
Results: The baseline analysis shows that 60% of drivers tested positive for alcohol biomarkers (EtG, PEth, or both) at the assessment interview, with lower detection rates (0–11%) for the 5 drug metabolites. The comparison of biomarkers results to self-reports of abstinence identified 28% of all offenders as high risk and assigned them to more frequent testing and more intense monitoring. The longitudinal analysis shows that 56% (completers) of participants completed the program successfully and the remaining 44% (noncompliant) terminated prematurely. Two thirds (68%) of the completers were able to reduce or control their drinking and one third relapsed at least one time during their mandated monitoring periods. After a brief intervention by the assessors, 79% of relapsers tested negative for biomarkers in their repeat tests. The rearrest analysis showed that offenders classified in the noncompliant and relapsers groups were 7 times more likely to receive a new OWI 4 years after enrollment compared to drivers classified as abstainers or controllers. Refractory drivers were monitored the longest and reported no subsequent rearrests.
Conclusion: These findings demonstrate the benefits of more individualized interventions with repeat OWI offenders and calls for further development of multimodal approaches in traffic medicine including those that use direct alcohol biomarkers as evidence-based practices to reduce recidivism. 相似文献
A time series study of the copepods Calanus chilensis and Centropages brachiatus was carried out at the coastal upwelling zone of Mejillones (23°S, northern Chile), to analyze their annual life cycles in
association with upwelling variation. These species co-exist in the upwelling zone. Weekly sampling of zooplankton and oceanographic
variables including Chlorophyll-a and phytoplankton composition were obtained during January–December 2002 at a fixed station (ca. 90 m depth). Stages of abundances,
their proportions, changes in body length of adult females, sex ratio and egg production rate (EPR), were used as proxies
to examine copepods’ demography. Upwelling, assessed by weekly Ekman transport and oceanographic conditions, was intermittent
throughout the year with lack of periodicity components. Populations of both copepod species did not correlate with these
non-predictable upwelling events. C. chilensis reproduced year-round and the population showed ca. 15 peaks of adults with an average time interval between peaks of 20 days.
C. brachiatus showed a similar life cycle, also having 15 peaks of adults at about 22 days of time intervals. Cross-correlation functions
and spectral analysis showed that both populations correlated positively through time, but not in phase, evidencing a time
lag for their reproductive cycles. The lag was also evident in their population abundances. Both species differ in their development
rates and this may result in non-in phase life cycles. Our findings suggest that species-dependent attributes, such as development
rates, modulated by adaptations to temperature, might impose constraints in the species life cycles determining the population
cycles. Such attributes must be considered when modeling and understanding population dynamics and secondary production of
copepods. 相似文献
The "Measured Annual Nutrient loads from AGricultural Environments" (MANAGE) database was developed to be a readily accessible, easily queried database of site characteristic and field-scale nutrient export data. The original version of MANAGE, which drew heavily from an early 1980s compilation of nutrient export data, created an electronic database with nutrient load data and corresponding site characteristics from 40 studies on agricultural (cultivated and pasture/range) land uses. In the current update, N and P load data from 15 additional studies of agricultural runoff were included along with N and P concentration data for all 55 studies. The database now contains 1677 watershed years of data for various agricultural land uses (703 for pasture/rangeland; 333 for corn; 291 for various crop rotations; 177 for wheat/oats; and 4-33 yr for barley, citrus, vegetables, sorghum, soybeans, cotton, fallow, and peanuts). Across all land uses, annual runoff loads averaged 14.2 kg ha(-1) for total N and 2.2 kg ha(-1) for total P. On average, these losses represented 10 to 25% of applied fertilizer N and 4 to 9% of applied fertilizer P. Although such statistics produce interesting generalities across a wide range of land use, management, and climatic conditions, regional crop-specific analyses should be conducted to guide regulatory and programmatic decisions. With this update, MANAGE contains data from a vast majority of published peer-reviewed N and P export studies on homogeneous agricultural land uses in the USA under natural rainfall-runoff conditions and thus provides necessary data for modeling and decision-making related to agricultural runoff. The current version can be downloaded at http://www.ars.usda.gov/spa/manage-nutrient. 相似文献
The machair sand dune systems of the Outer Hebrides of Scotland are a unique habitat, which is rare within both a global and
European context. Unusually, the machair habitat also represents an agricultural resource that is very important to the Hebridean
people, having been subject to both grazing and cultivation throughout the historical period. Following designation as an
Environmentally Sensitive Area (ESA) in 1988, the machairs of South Uist have been studied with the aim of understanding the
links between agricultural practice and their plant community and ecosystem dynamics. This research focused primarily on the
effects of cultivation practices and their role in maintaining plant species richness and community and ecosystem stability.
Within two carefully selected areas, the successional plant communities of machair at different stages of recovery following
ploughing and cultivation of cereals and potato patches or ‘lazy beds’ were identified at both a macro- and micro-level. Investigations
of the vegetation recovery processes on turves taken from newly ploughed land indicated that the initial stages of recolonization
are characterized primarily by rapid vegetative reproduction and growth, although re-vegetation by seeds is also an important
factor. The implications of these findings for the long-term management of machair plant communities are discussed and in
particular the need to maintain old cultivation practices such as shallow ploughing. The need for more detailed research into
both seed banks and seed rain and into processes of vegetative reproduction is stressed.
Nomenclature: Clapham et al. (1981) and Stace (1991, 1997) for vascular plants; Hubbard (1984) for grasses; Pankhurst & Mullin (1991) for
the regional flora; Dobson (1992) for lichens; Watson (1981) for mosses and liverworts. 相似文献