Association Between Patient and Physician Sex and Physician-Estimated Stroke and Bleeding Risks in Atrial Fibrillation

Background

Physicians treating nonvalvular atrial fibrillation (AF) assess stroke and bleeding risks when deciding on anticoagulation. The agreement between empirical and physician-estimated risks is unclear. Furthermore, the association between patient and physician sex and anticoagulation decision-making is uncertain.

Chemical composition of a new variety of the Andean lupin (Lupinus mutabilis cv. Inti) with low-alkaloid content

The chemical composition of the seeds of the low-alkaloid variety “Inti” of the Andean lupin (Lupinus mutabilis) grown in the south of Chile was examined. The contents of (% of dry weight) total alkaloids, protein, lipids, and oligosaccharides were found to be 0.0075, 51.0, 16.0, and 14.7%, respectively. The low levels of the sulfur amino acids (2.38% of total protein) made them the first amino acids to limit the protein quality of these lupin seeds. The fatty acid pattern was C16:0,13.9%; C18:0, 3.0%; C18:1, 41.8%; C18:2, 38.9%; and C18:3,2.6% of total fatty acids. The α-galactoside amounted to 13.5% of dry weight (raffinose, 2.49%; stachyose, 10.1%, verbascose, 0.85%). It can be stated that “Inti” is highly interesting as a potential protein energy crop for a temperate climate.     

Modelling Germline Mosaicism and Different New Mutation Rates Simultaneously for Appropriate Risk Calculations in Families with Duchenne Muscular Dystrophy

For several genetic diseases two biological phenomena have been recognised as important: germline mosaicism; and different new mutation rates in males and females depending on mutation type. Both principles have been investigated separately and their influence on risk estimation in families has been exemplified in the literature. The aim of this paper is to present a general model that includes mosaicism and different new mutation rates. Mosaicism is introduced by defining additional alleles at the disease locus in combination with adapted segregation rules. Taking Duchenne muscular dystrophy as an example, we derive the conditions which have to be fulfilled for a population in mutation selection equilibrium. Our approach describes the model at the population level and not in individual subjects. This has the advantage of being able to use well known algorithms for the calculation of likelihoods in pedigrees, and to include additional diagnostic information such as marker genotypes and carrier deletion test results. We demonstrate the impact of the new model on a typical pedigree. In families where the patient is not available, the distinction between point mutations and deletions is important, since often molecular diagnostic tests for females can only screen for deletions. Negative deletion test results can now be included in the risk calculations.