All-in-one whole exome sequencing strategy with simultaneous copy number variant,single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

Objective

We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result.

Methods

After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis.

Results

In total, 415 prenatal samples were included. Following a non-causative QF-PCR result, WES-CNV analysis was initially requested for 74.3% of the chorionic villus (CV) samples and 45% of the amniotic fluid (AF) samples. In case WES-CNV analysis did not reveal a causative aberration, SNV-re-analysis was requested in 41.7% of the CV samples and 17.5% of the AF samples. All initial analyses could be finished within 2 weeks after sampling. For SNV-re-analysis during pregnancy, turn-around-times (TATs) varied between one and 8 days.

Conclusion

We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result.     

Characteristics of Filoviridae: Marburg and Ebola Viruses

Filoviruses are enveloped, nonsegmented negative-stranded RNA viruses. The two species, Marburg and Ebola virus, are serologically, biochemically, and genetically distinct. Marburg virus was first isolated during an outbreak in Europe in 1967, and Ebola virus emerged in 1976 as the causative agent of two simultaneous outbreaks in southern Sudan and northern Zaire. Although the main route of infection is known to be person-to-person transmission by intimate contact, the natural reservoir for filoviruses still remains a mystery.     

Farmers’ Attitude Towards Animal Welfare Aspects and Their Practice in Organic Dairy Calf Rearing: a Case Study in Selected Nordic Farms

In organic philosophy, the concept of “naturalness” is of major importance. According to the organic interpretation of animal welfare, natural living is considered a precondition for accomplishing welfare and the principal aims of organic production include the provision of natural living conditions for animals. However, respective regulations are lacking in organic legislation. In practice, the life of a calf in organic rearing systems can deviate from being natural, since common practices in dairy farms include early weaning, dehorning, or cow-calf separation soon after birth. This case study explores how calf welfare is approached in six different organic dairy farms and how far the concept of naturalness is implemented. The farms included in this study were located in Norway and Sweden. A semi-structured questionnaire was used for data collection. The interviewed farmers approach the concept of welfare in various ways and state that “naturalness” is an aspect of animal welfare. However, in practice in the calf rearing systems under study, only a few “naturalness” aspects were implemented. Reasons for the observed discrepancy might lie in differing understandings of “naturalness,” in economic restrictions, and in other trade-offs resulting from production system inherent characteristics and in limited regulation concerning provision of natural living aspects.     

The Effects of Environmental Brand Attributes and Nature Imagery in Green Advertising

Following Hartmann and Apaolaza-Ibáñez’ [(2009). Green advertising revisited. Conditioning virtual nature experiences. International Journal of Advertising, 28(4), 715–739] approach, this experimental study compares the effects of three types of green print ads: a non-green ad, a functional green ad promoting environmental product attributes, and a combined nature ad featuring a pleasant nature image in addition to functional attributes. We extend prior research by simultaneously testing moderating and mediating mechanisms to explain brand attitudes and purchase intention. Using a quota sample of 456 consumers, findings suggest that the functional ad enhances perceptions of environmental brand benefits, which positively affect purchase intention partially mediated by brand attitudes. The combined nature ad, by contrast, activates an additional emotional process of virtually experiencing nature which positively influences brand attitudes and purchase intention beyond perceptions of environmental brand benefits. The effects of the combined nature ad are even stronger for highly involved consumers.     

Occupational Health Care in Small and Medium-Sized Enterprises—How Many Doctors Do We Need and How Do We Ensure Good Care?

The translation of the framework directive 89/391/EEC (Council Directive 89/391/EEC) into national law aims at supplying occupational protection and health care to all employees of large, small, and medium-sized enterprises (SMEs) likewise, depending on assessed exposure. Prior incomplete protection of the German workforce with bias against the SMEs requires an assessment of quantitative and qualitative adequacy of present occupational health care practice and also of future needs.

Therefore, the Federal Institute for Occupational Safety and Health of Germany initiated a study to evaluate the present state of occupational health care in 4 regions with different geographic and economic structure. Based on these data the future demand for adequately trained occupational physicians will be estimated by employing a statistical method that allows for including a large number of modifying variables (economic development, demographic change, etc.).

Expected result of the applied technique are the estimated minimal and maximal number of occupational physicians that have to be trained to meet future demand. In the same study models of best practice will be identified and evaluated for general application. The project started in October 1997 and will be finished by January 2000.