Racial mixing in South African honeybees: the effects of genotype mixing on reproductive traits of workers

To test the hypothesis that the honeybee hybrid zone in South Africa is a tension zone due to increased reproductive conflict in colonies that contain both Apis mellifera capensis and Apis mellifera scutellata worker genotypes, we constructed mixed subspecies and hybrid colonies via a combination of artificial and natural matings. We measured emergence weight, ovary activation, and the presence/absence of a spermatheca on workers of different genotypes. We show that the measured characteristics were all affected by genotype with some traits also affected by the social environment in which the worker was reared. Workers with both an A. m. capensis mother and father had the highest emergence weight. When workers had an A. m. capensis mother, paternity affected emergence weight with A. m. capensis fathers producing heavier workers. When the queen was A. m. scutellata, paternity had less effect on weight. Presence of spermatheca was highest in mixed colonies irrespective of maternity and colonies containing pure A. m. capensis workers only. Paternity had a significant effect on the presence of a spermatheca within mixed colonies, with workers that had an A. m. capensis father being more likely to possess a spermatheca. Rates of ovary activation were highest in colonies with an A. m. scutellata queen mated to drones of both genotypes, suggesting that mixed subspecies colonies likely suffer increased reproductive strife among workers. Our results provide support for the hypothesis that the South African honeybee hybrid zone is a tension zone arising from reduced fitness of genetically mixed colonies.     

Cell-free DNA screening in twin pregnancies: A more accurate and reliable screening tool

Objective

Outcome data from cell-free DNA (cfDNA) screening in twin gestations are limited. This study adds an appreciable number of confirmed outcomes to the literature, and assesses performance of cfDNA screening in twins over a 4.5-year period at one large clinical laboratory.

Method

Prenatal cytogenetic and SNP microarray results were cross-referenced with cfDNA results for twin pregnancies, yielding 422 matched cases. Using diagnostic results as truth, performance of cfDNA screening in this population was assessed.

Results

Of the 422 twin pregnancies with both cfDNA and diagnostic results, 3 specimens failed amniocyte analysis, and 48 samples (11.5%) were nonreportable from the initial cfDNA draw. Analysis of the 371 reportable samples demonstrated a collective sensitivity of 98.7% and specificity of 93.2% for trisomies 21/18/13. Positive predictive values (PPVs) in this study population, which is enriched for aneuploidy, were 78.7%, 84.6%, and 66.7% for trisomy 21, 18, and 13, respectively.

Conclusion

CfDNA screening in a cohort of twin pregnancies with matched diagnostic results showed superior performance compared to traditional serum biochemical screening in twins. This study adds to a growing body of evidence suggesting that cfDNA is an accurate and reliable screening tool for the major trisomies in twin pregnancies.

     

Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome

Objective

In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses affected by fetal akinesia.

Materials and Methods

We enrolled 22 eukaryotic fetuses of 18 families, diagnosed with fetal akinesia between 2008 and 2016 at the Department of Obstetrics and Feto-Maternal Medicine at the Medical University of Vienna. Routine genetic evaluation included karyotyping and chromosomal microarray analysis. Retrospectively, exome sequencing was performed in the index case of 11 families, if stored DNA was available. Confirmation analyses and genetic diagnosis of siblings were performed by using Sanger sequencing.

Results

Whole exome sequencing identified pathogenic variants of CNTN1, RYR1, NEB, GLDN, HRAS and TNNT3 in six cases of 11 families. In three of these families, the variants were confirmed in the respective sibling.

Conclusions

The present study demonstrates a high diagnostic yield of exome sequencing in fetuses affected by akinesia syndrome, especially if family history is positive. Still, in a large part the underlying genetic cause remained unknown, whereas precise clinical evaluation in combination with exome sequencing shows to be the best tool to find the disease causing variants.     

Shifting Lands: Exploring Kansas Farmer Decision-Making in an Era of Climate Change and Biofuels Production

While farming has been the subject of frequent critical analysis with respect to its environmental impacts, including its greenhouse gas emissions, there has been relatively little consideration of the potentially positive role of agriculture in responding to a future greatly influenced by climate change. One possible realm for agriculture to contribute successfully to this future is through biofuels cultivation. This paper uses the state of Kansas as an example to examine factors that are influencing farmer decision-making during a time of heightened debates about climate and energy. Drawing on interviews with key informants and Kansas farmers, we apply and refine a conceptual model for understanding farmer decisions. We find that farmers have largely positive perceptions of the natural environment. Climate change, especially, is not a salient concern at this time. Factors that appear most likely to influence farmer decisions to adopt a new practice include the relative advantage of that practice and the ability to learn about and discuss it through existing social networks. Successful policy incentives must provide farmers with a continued sense of both independence and contribution to greater societal good.     

Pay satisfaction and work–family conflict across time

On the basis of justice and exchange theories, the authors propose that employees offset their levels of work–family conflict (WFC) with their levels of pay satisfaction. Results based on two waves of data indicate that pay satisfaction has a negative relationship with WFC after controlling for actual pay and other work‐related and family‐related variables. Analysis of pay satisfaction dimensions reveals that satisfaction with benefits and pay structure are negatively related to WFC, whereas satisfaction with pay level and pay raise are not. Number of dependents and level of education moderate the relationship between pay satisfaction and WFC; specifically, having more dependents and higher education attenuates the relationship between pay satisfaction and WFC. Copyright © 2012 John Wiley & Sons, Ltd.     

Bioaccumulation of selenium from natural geologic sources in western states and its potential consequences

Ecological impacts of water-quality problems have developed in the western United States resulting from the disposal of seleniferous agricultural wastewater in wetland areas. Overt effects of selenium toxicosis occurred at five areas where deformities of wild aquatic birds were similar to those first observed at Kesterson National Wildlife Refuge in the west-central San Joaquin Valley of California. These areas are: Tulare Lake Bed Area, California, Middle Green River Basin, Utah, Kendrick Reclamation Project Area, Wyoming, Sun River Basin, Montana, and Stillwater Wildlife Management Area, Nevada. Potential for ecological damage is indicated at six more sites in Oregon, Colorado, the Colorado/Kansas border, and South Dakota out of 16 areas in 11 states where biological tissue data were collected. This conclusion is based on the fact that selenium bioaccumulated in bird livers to median levels that had exceeded or were in the range associated with adverse reproductive effects. Selenium concentrations in samples of fish and bird eggs support these conclusions at a majority of these areas. Reason for concern is also given for the lower Colorado River Valley, although this is not exclusively a conclusion from these reconnaissance data. Biogeochemical conditions and the extent of selenium contamination of water, bottom sediment, and biota from which this assessment was made are given here. In a companion paper, the biogeochemical pathway postulated for selenium contamination to take place from natural geologic sources to aquatic wildlife is defined.     

Prenatal diagnosis of chromosome mosaicism

The frequency of mosaicism and pseudomosaicism in the prenatal diagnosis of cytogenetic disorders is reported, based on 3000 pregnancies studied in our laboratory. Diagnosis of true mosaicism was only made when an abnomality was detected in two or more independent cultures established from an amniotic fluid sample. On this basis, 0.37 per cent of all cases were diagnosed as true mosaics. 1.07 per cent of all cases had pseudomosaicism involving more than one cell from the same culture with an identical abnormality. 4.13 per cent of cases had a single abnormal cell with an extra chromosome, loss of a sex chromosome (or part of a sex chromosome), or translocation. Details of the outcome and follow-up of cases is given. Particularly problematical were cases where multiple cells from one culture contained an abnormality which could have been clinically significant. A crude estimate of the extent to which true mosaicism might currently be misinterpreted as pseudomosaicism or entirely missed has been made, based on data from the U.S. survey (Hsu and Perlis, in press). It was concluded that even when two, and if necessary a third culture is extensively analysed with an average of 24 cells per culture counted, at least 4.5 per cent of cases of true mosaicism may be completely missed and at least 7 per cent could be misdiagnosed as pseudomosaicism. There is an urgent need for improved laboratory techniques which allow growth of a greater number of cell colonies and therefore a more broadly based analysis. Detailed long term follow-up of prenatally diagnosed mosaics is also essential for assessing the clinical significance of the laboratory findings.     

Towards informed decisions about prenatal testing: A review

There are now several well-documented psychological problems associated with prenatal testing programmes. These include poor understanding of tests undergone or declined, anxiety following false positive results, and false reassurance in those receiving negative test results. There is, as yet, little evidence concerning how to provide services to circumvent these. The focus of this review is upon just one of these problems: how best to inform women about prenatal testing and their reproductive options following the diagnosis of a fetal abnormality. Possible methods of improving informed decision-making either about whether to undergo testing or whether to terminate an affected pregnancy are described drawing upon research from antenatal and other health care areas. Future challenges for clinical practice and research in this area concern the range of conditions and predispositions for which prenatal testing with the option of termination should be offered.