Fabry disease is an X-linked inborn error of glycolipid metabolism caused by deficiency of the human lysosomal enzyme, α-galactosidase A (αGal), leading to strokes, myocardial infarctions, and terminal renal failure, often leading to death in the fourth or fifth decade of life. The enzyme is responsible for the hydrolysis of terminal α-galactoside linkages in various glycolipids. Enzyme replacement therapy (ERT) has been approved for the treatment of Fabry disease, but adverse reactions, including immune reactions, make it desirable to generate improved methods for ERT. One approach to circumvent these adverse reactions is the development of derivatives of the enzyme with more activity per mg. It was previously reported that carboxyl-terminal deletions of 2 to 10 amino acids led to increased activity of about 2 to 6-fold. However, this data was qualitative or semi-quantitative and relied on comparison of the amounts of mRNA present in Northern blots with αGal enzyme activity using a transient expression system in COS-1 cells. Here we follow up on this report by constructing and purifying mutant enzymes with deletions of 2, 4, 6, 8, and 10 C-terminal amino acids (Δ2, Δ4, Δ6, Δ8, Δ10) for unambiguous quantitative enzyme assays. The results reported here show that the k cat/K m approximately doubles with deletions of 2, 4, 6 and 10 amino acids (0.8 to 1.7-fold effect) while a deletion of 8 amino acids decreases the k cat/K m (7.2-fold effect). These results indicate that the mutated enzymes with increased activity constructed here would be expected to have a greater therapeutic effect on a per mg basis, and could therefore reduce the likelihood of adverse infusion related reactions in Fabry patients receiving ERT treatment. These results also illustrate the principle that in vitro mutagenesis can be used to generate αGal derivatives with improved enzyme activity.

In this study, we evaluated the effectiveness of a two-week pre-anatomy and physiology workshop intended to contribute to student success in anatomy and physiology. The study showed that workshop participants had significantly higher post-test scores, better study habits, and generally felt more confident or prepared for anatomy and physiology. The workshop participants also reported that they understood membrane transport the least and organization of the body the most, information that may be useful in anatomy and physiology curriculum development. Preliminary studies also show that students that participated in the workshop performed significantly better than the general student body, with lower attrition rates in anatomy and physiology.

This article describes the effectiveness of open note quizzes in improving student outcomes in an introductory Human Anatomy and Physiology course. Results are discussed within the context of a teaching strategy called LETME (Link, Extract, Transform, Monitor and Extend), which was specifically developed for at risk community college students. The use of open note quizzes not only helped students monitor their progress, but also with note taking as they extracted and transformed information from the textbook and other sources. It also enabled them to link this information to previous knowledge and extend it to new concepts. In addition to achieving significantly higher test scores in the five lecture tests and overall grades, students exposed to LETME reported slightly better study habits in monitoring their own performance and their independent study skills. For instance, surveys indicated that they were more likely to use their textbook, take notes and be involved with study groups. The experimental group also reported that the open note quizzes helped them in preparing for exams and mastering the course. Students in the experimental group were also more likely to complete the course than the general student population.

This study assessed the effectiveness of the introduction of active learning exercises into the anatomy and physiology curriculum in a community college setting. Specifically, the incorporation of a spirometry-based respiratory physiology lab resulted in improved student performance in two concepts (respiratory volumes and the hallmarks of respiratory diseases) but not a third (the relationship between volume, pressure and airflow). Anonymous post-lab surveys indicated that the modification increased student's interest in the subject and encouraged interactive learning as well as the use of technology in the classroom. However, although test sections outperformed control sections in the lab midterm, the difference was statistically insignificant, presumably due to the fact that respiratory concepts only accounted for less than 20% of the exam.