Prenatal diagnosis of sex discordance is a relatively new phenomenon. Prior to cell-free DNA testing, the diagnosis of a disorder of sexual differentiation was serendipitous, either through identification of ambiguous genitalia at the midtrimester morphology ultrasound or discovery of genotype-phenotype discordance in cases where preimplantation genetic diagnosis or invasive prenatal testing had occurred. The widespread integration of cfDNA testing into modern antenatal screening has made sex chromosome assessment possible from 10 weeks of gestation, and discordant fetal sex is now more commonly diagnosed prenatally, with a prevalence of approximately 1 in 1500-2000 pregnancies. Early detection of phenotype-genotype sex discordance is important as it may indicate an underlying genetic, chromosomal or biochemical condition and it also allows for time-critical postnatal treatment. The aim of this article is to review cfDNA and ultrasound diagnosis of fetal sex, identify possible causes of phenotype-genotype discordance and provide a systematic approach for clinicians when counseling and managing couples in this circumstance. 相似文献
Magnetic resonance imaging (MRI) of placental invasion has been part of clinical practice for many years. The possibility of being better able to assess placental vascularization and function using MRI has multiple potential applications. This review summarises up-to-date research on placental function using different MRI modalities.
Method
We discuss how combinations of these MRI techniques have much to contribute to fetal conditions amenable for therapy such as singletons at high risk for fetal growth restriction (FGR) and monochorionic twin pregnancies for planning surgery and counselling for selective growth restriction and transfusion conditions.
Results
The whole placenta can easily be visualized on MRI, with a clear boundary against the amniotic fluid, and a less clear placental-uterine boundary. Contrasts such as diffusion weighted imaging, relaxometry, blood oxygenation level dependent MRI and flow and metabolite measurement by dynamic contrast enhanced MRI, arterial spin labeling, or spectroscopic techniques are contributing to our wider understanding of placental function.
Conclusion
The future of placental MRI is exciting, with the increasing availability of multiple contrasts and new models that will boost the capability of MRI to measure oxygen saturation and placental exchange, enabling examination of placental function in complicated pregnancies. 相似文献
Future levels of climate change depend not only on carbon emissions but also on carbon uptake by the land and the ocean. Here we are using the Earth system model (ESM1) version of the Australian Community Climate and Earth System Simulator (ACCESS) to explore the potential and impact of removing carbon dioxide (CO2) from the atmosphere through the climate and carbon cycle reversibility experiment. This experiment builds on the standard Coupled Model Intercomparison Project (CMIP) experiment, increasing CO2 at 1% per year until 4xCO2 is reached. The atmospheric CO2 levels are then decreased at the same rate which brings the CO2 back to pre-industrial levels. We then continue to run the model with constant CO2 for another 350 years. Our analysis focuses on the response of the land carbon cycle. We find that carbon stores are largely reversible at the global scale over the timescale of changing CO2. However, carbon stores continue to decrease after CO2 returns to its initial value, and the land loses another 40 Pg of carbon (PgC) with the largest change in the tropics. It takes about 300 years beyond the period of changing CO2 for the carbon stores to recover. Interestingly, we saw strong regional variations in the strength of the land response to changing CO2. Australia showed the largest increase/decrease in biomass carbon (about 40%) and the largest variability in productivity, which was strongly correlated with rainfall. This highlights the importance of assessing the regional response to understanding the processes underlying the response and the sensitivity of these processes within each model. This understanding will benefit future multi-model analyses of this reversibility experiment. It also illustrates more generally the potential to use Earth system model experiments as part of the evaluation of proposed applications of carbon dioxide removal (CDR) technologies. As such, we recommend that these types of modelling experiments be included when mitigation policies are developed.
Medical error taxonomies are used to report and analyse patient safety incidents. Medical error taxonomies can be generic or domain-specific. In comparing generic and domain-specific medical error taxonomies, the literature compares the information both type of taxonomies classify. There is little evidence the taxonomies have been compared in terms of usability and reliability. Twenty nurses and 21 pharmacists participated in a study comparing the usability and reliability of a generic medical error taxonomy and a medication error taxonomy. The medical error taxonomies utilized were the Patient Safety Event Taxonomy and the NCC MERP Taxonomy of Medication Error. The study found no significant difference in the usability ratings of both taxonomies. The taxonomies required different amount of time to classify patient safety incidents and had significantly different reliability levels. The reliability of the NCC MERP Taxonomy of Medication Error was significantly different when used by nurses and pharmacists. The taxonomy was also preferred by the majority of participants. Some recommendations are made about the design of future medical error taxonomies. 相似文献
Lead (Pb) is a well-studied environmental contaminant that has many negative health effects, especially for children. Both racial/ethnic and income disparities have been documented with respect to exposure to Pb in soils. The objectives of this study were to assess whether soil Pb concentrations in rural and urban areas of South Carolina USA, previously identified as having clusters of intellectual disabilities (ID) in children, were positively associated with populations of minority and low-income individuals and children (≤6 years of age). Surface soils from two rural and two urban areas with identified clusters of ID were analyzed for Pb and concentrations were spatially interpolated using inverse distance weighted analysis. Population race/ethnicity and income-to-poverty ratio (ITPR) from United States Census 2000 block group data were aerially interpolated by block group within each area. Urban areas had significantly higher concentrations of Pb than rural areas. Significant positive associations between black, non-Hispanic Latino, individuals and children ≤6 years of age and mean estimated Pb concentrations were observed in both urban (r = 0.38, p = 0.0007) and rural (r = 0.53, p = 0.04) areas. Significant positive associations also were observed between individuals and children with an ITPR < 1.00 and Pb concentrations, though primarily in urban areas. Racial/ethnic minorities and low ITPR individuals, including children, may be at elevated risk for exposure to Pb in soils. 相似文献
We propose a space-time stick-breaking process for the disease cluster estimation. The dependencies for spatial and temporal effects are introduced by using space-time covariate dependent kernel stick-breaking processes. We compared this model with the space-time standard random effect model by checking each model’s ability in terms of cluster detection of various shapes and sizes. This comparison was made for simulated data where the true risks were known. For the simulated data, we have observed that space-time stick-breaking process performs better in detecting medium- and high-risk clusters. For the real data, county specific low birth weight incidences for the state of South Carolina for the years 1997–2007, we have illustrated how the proposed model can be used to find grouping of counties of higher incidence rate. 相似文献
Summary Between 1970 and 1990 Uganda witnessed the decline of the highland cooking banana from traditional growing areas in the central region, coupled with crop expansion in the country's southwest. Apprehension that the factors leading to loss of sustainability in the central region may be replayed in extant production areas has raised concern about the future of the cooking banana in Uganda. Consequently, a multi-disciplinary study was conducted at nine central and six southwestern sites to document shifts in cooking banana production and to elucidate the causes behind these shifts. Cooking banana production in central Uganda sites fell from 18% of total food crop and 7% of total cash crop production in the 1970s to 4% and 2%, respectively, in the 1990s. Farmers identified reduced labour availability and management, increasing pest pressure and declining soil nutrient status as the major causes of decline. On-farm verification confirmed farmers' observations: weevil levels were the highest yet found in Uganda, while foliar samples indicated deficiencies in magnesium, nitrogen, and potassium. Soil nutrient deficiencies, however, appear to be a direct outcome ofreduced management rather than ‘soil exhaustion’ as postulated by farmers. In southwestern Uganda, the importance of the cooking banana as a cash crop has quadrupled since 1970. Banana first penetrated the region because of its ease of production and stability of yield. High yields attracted traders and urban market demand drove further crop expansion. With current market incentives, banana management standards have been high. Under current levels of management, it is unlikely that farmers in southwestern Uganda will experience a similar process of decline as that which occurred in the central region. However, concern remains aboqt lack of replenishment of nutrients leaving the farm in the form of fruits sold for market, a nutrient loss which may eventually lead to non-sustainability of the cropping system. 相似文献
Predation exerts tremendous selection pressure on all organisms. In this study, we exposed embryos of convict cichlids (Amatitlania siquia) twice daily to one of the following: (1) chemical alarm cues of damaged conspecifics + odour of a novel predator (Polypterus endlicheri), (2) chemical alarm cues of damaged conspecifics + water or (3) blank water. No chemical cues were presented after the eggs hatched. When the larvae were 9 days old (mean total length?=?5.7 mm), they were exposed to either predator odour or water. Those larvae that had been conditioned as embryos on alarm cues + predator odour showed a significant reduction in activity (i.e. anti-predator behavioural response) to predator odour relative to the other treatments. This is the first demonstration of acquired predator recognition by fish embryos. 相似文献