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 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
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
Human exposure to PCBs is nearly universal in North America. While most exposure can be linked to consumption of contaminated fish, detection of PCBs in non-fish eating populations suggests that other routes of exposure including inhalation of PCB-laden particles or volatile congeners, ingestion of contaminated soil or dust, or dermal absorption following direct contact are also important. In an effort to assess the role of the residential environment as a source of exposure, vacuum dust was collected from the homes of 26 Wisconsin residents whose serum PCB levels had been measured approximately 2 years earlier. More than 60 congeners were detected in dust with all of the samples containing congeners 101, 110, 138 and 153. Total PCB levels ranged from 8.8 to 1186 ng g−1 with levels being highest in vacuum dust from homes built between 1959 and 1970. Total PCB levels ranged from 0.05 to 8.34 μg L−1 in serum collected from the adults living in these households, with congeners 138, 153 and 180 predominating. Hexa- and hepta-chlorinated biphenyls comprised 73% of the total residues detected in serum. However, most of the residues found in dust were lower chlorinated congeners with tetra- and penta-chlorinated biphenyls being dominant. Following log transformation, a positive association was found between serum and house dust PCB levels. This association was stronger among infrequent consumers of Great Lake fish, but of borderline statistical significance. This exploratory study suggests that house dust may be a significant source of exposure to PCBs and supports the need for further investigations. 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
Although banned from production for decades, PCBs remain a significant risk to human health. A primary target of concern is the developing brain. Epidemiological studies link PCB exposures in utero or during infancy to increased risk of neuropsychiatric deficits in children. Nonclinical studies of legacy congeners found in PCB mixtures synthesized prior to the ban on PCB production suggest that non-dioxin-like (NDL) congeners are predominantly responsible for the developmental neurotoxicity associated with PCB exposures. Mechanistic studies suggest that NDL PCBs alter neurodevelopment via ryanodine receptor-dependent effects on dendritic arborization. Lightly chlorinated congeners, which were not present in the industrial mixtures synthesized prior to the ban on PCB production, have emerged as contemporary environmental contaminants, but there is a paucity of data regarding their potential developmental neurotoxicity. PCB 11, a prevalent contemporary congener, is found in the serum of children and their mothers, as well as in the serum of pregnant women at increased risk for having a child diagnosed with a neurodevelopmental disorder (NDD). Recent data demonstrates that PCB 11 modulates neuronal morphogenesis via mechanisms that are convergent with and divergent from those implicated in the developmental neurotoxicity of legacy NDL PCBs. This review summarizes these data and discusses their relevance to adverse neurodevelopmental outcomes in humans.
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