No abstract

The dystrophin-based membrane cytoskeleton of muscle fibers has emerged as a critical multi-protein complex which seems to impart structural integrity on the muscle fiber plasma membrane. Deficiency of dystrophin causes the most common types of muscular dystrophy, Duchenne and Becker muscular dystrophies. Muscular dystrophy patients showing normal dystrophin protein and gene analysis are generally isolated cases with a presumed autosomal recessive inheritance pattern (limb-girdle muscular dystrophy). Recently, linkage and candidate gene analyses have shown that some cases of limb-girdle muscular dystrophy can be caused by deficiency of other components of the dystrophin membrane cytoskeleton. The most recently identified component, delta-sarcoglycan, has been found to show mutations in a series of Brazilian muscular dystrophy patients. All patients were homozygous for a protein-truncating carboxy-terminal mutation, and showed a deficiency of the four sarcoglycan proteins. To determine if delta-sarcoglycan deficiency occurred in other world populations, to identify the range of mutations and clinical phenotypes, and to test for the biochemical consequences of delta-sarcoglycan gene mutations, we studied Duchenne-like and limb-girdle muscular dystrophy patients who we had previously shown not to exhibit gene mutations of dystrophin, alpha-, beta-, or gamma-sarcoglycan for delta-sarcoglycan mutations (n = 54). We identified two American patients with novel nonsense mutations of delta-sarcoglycan (W30X, R165X). One was apparently homozygous, and we show likely consanguinity through homozygosity for 13 microsatellite loci covering a 38 cM region of chromosome 5. The second was heterozygous. Both were girls who showed clinical symptoms consistent with Duchenne muscular dystrophy in males. Our data shows that delta-sarcoglycan deficiency occurs in other world populations, and that most or all patients show a deficiency of the entire sarcoglycan complex, adding support to the hypothesis that these proteins function as a tetrameric unit.

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Attrition in online courses, when compared to face-to-face courses, is higher. Student persistence affects the ability to complete an online course. The aim of this study was to quantitatively measure persistence among nursing students enrolled in a master’s level required theory course. Study data, collected during the first two weeks of the semester, included responses to the Persistence Scale for Online Education (PSOE) and completion of a demographic data sheet. Data from 26 consented students revealed an overall moderate level of persistence. The four students who reported low levels of persistence failed to complete the course. It appears that the PSOE can reliably identify the student at-risk for course incompletion and may be useful in identifying those for whom intervention would be helpful.

Guiding Principles: (1) Governments should see themselves as stewards of supply chains, providing vision, guidance, and oversight, not necessarily as operators of supply chains. (2) Governments should not be afraid to leverage the multiple supply chain actors and diverse options available; these can be woven into a coherent, integrated system, providing flexibility and reducing risk. (3) Governments will need new skills in leadership, regulation, market research, contract design, oversight of outsourced providers, financial analysis, and alliance-building.