Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires

Bovine congenital pseudomyotonia (PMT) is a genetic disease in Chianina and other breeds of cattle that induces muscular stiffness. PMT in the Chianina breed is caused by a missense mutation in exon 6 of the ATP2A1 gene, which encodes the SERCA1 pump. In this study, the prevalence of PMT carriers and the frequency of the deleterious PMT allele in selected subpopulations of the Chianina breed were estimated. The prevalence of PMT carriers among ranked Chianina sires used for artificial insemination in the years 2007-2011 was 13.6%. The frequency of PMT carriers in young bull calves born in the period January 2007 to June 2011 selected for a performance testing programme was 13.4%. Selective breeding against this genetic defect is restricted to males only and therefore is predicted to require at least seven generations to eradicate PMT.

Prevalence of paunch calf syndrome carriers in Italian Romagnola cattle.

The term 'paunch calf syndrome' encompasses the multi-organic lethal developmental dysplasia reported in the Romagnola breed of cattle and is characterised by facial deformities, an enlarged and floating abdomen containing considerable abdominal effusion, and hepatic fibrosis. Paunch calf syndrome is caused by a missense mutation in the KDM2B gene (c.2503G>A) that is thought to lead to an amino acid exchange (p.D835N). In this study, the prevalence of carriers of the mutant KDM2B allele (and thus the frequency of the allele) was assessed in selected subpopulations of Romagnola cattle. The prevalence of carriers within top-ranked Romagnola sires over the years 2007-2012 was 29.3% (allele frequency 14.6%). In young bull calves, 30.9% were carriers with an allele frequency of 15.4%.

Workflow Interruptions and Failed Action Regulation in Surgery Personnel

Background Workflow interruptions during surgery may cause a threat to patient's safety. Workflow interruptions were tested to predict failure in action regulation that in turn predicts near-accidents in surgery and related health care. Methods One-hundred-and-thirty-three theater nurses and physicians from eight Swiss hospitals participated in a cross-sectional questionnaire survey. The study participation rate was 43%. Results Structural equation modeling confirmed an indirect path from workflow interruptions through cognitive failure in action regulation on near-accidents (p < 0.05). The indirect path was stronger for workflow interruptions by malfunctions and task organizational blockages compared with workflow interruptions that were caused by persons. The indirect path remained meaningful when individual differences in conscientiousness and compliance with safety regulations were controlled. Conclusion Task interruptions caused by malfunction and organizational constraints are likely to trigger errors in surgery. Work redesign is recommended to reduce workflow interruptions by malfunction and regulatory constraints.

A Call for Systematic Research on Solute Carriers

Solute carrier (SLC) membrane transport proteins control essential physiological functions, including nutrient uptake, ion transport, and waste removal. SLCs interact with several important drugs, and a quarter of the more than 400 SLC genes are associated with human diseases. Yet, compared to other gene families of similar stature, SLCs are relatively understudied. The time is right for a systematic attack on SLC structure, specificity, and function, taking into account kinship and expression, as well as the dependencies that arise from the common metabolic space.