Lynch syndrome: barriers to and facilitators of screening and disease management

Background Lynch syndrome is a hereditary cancer with confirmed carriers at high risk for colorectal (CRC) and extracolonic cancers. The purpose of the current study was to develop a greater understanding of the factors influencing decisions about disease management post-genetic testing. Methods The study used a grounded theory approach to data collection and analysis as part of a multiphase project examining the psychosocial and behavioral impact of predictive DNA testing for Lynch syndrome. Individual and small group interviews were conducted with individuals from 10 families with the MSH2 intron 5 splice site mutation or exon 8 deletion. The data from confirmed carriers (n = 23) were subjected to re-analysis to identify key barriers to and/or facilitators of screening and disease management. Results Thematic analysis identified personal, health care provider and health care system factors as dominant barriers to and/or facilitators of managing Lynch syndrome. Person-centered factors reflect risk perceptions and decision-making, and enduring screening/disease management. The perceived knowledge and clinical management skills of health care providers also influenced participation in recommended protocols. The health care system barriers/facilitators are defined in terms of continuity of care and coordination of services among providers. Conclusions Individuals with Lynch syndrome often encounter multiple barriers to and facilitators of disease management that go beyond the individual to the provider and health care system levels. The current organization and implementation of health care services are inadequate. A coordinated system of local services capable of providing integrated, efficient health care and follow-up, populated by providers with knowledge of hereditary cancer, is necessary to maintain optimal health

Egg Production in a Coastal Seabird, the Glaucous-Winged Gull (Larus glaucescens), Declines during the Last Century

Seabirds integrate information about oceanic ecosystems across time and space, and are considered sensitive indicators of marine conditions. To assess whether hypothesized long-term foodweb changes such as forage fish declines may be reflected in a consumer's life history traits over time, I used meta-regression to evaluate multi-decadal changes in aspects of egg production in the glaucous-winged gull (Larus glaucescens), a common coastal bird. Study data were derived from literature searches of published papers and unpublished historical accounts, museum egg collections, and modern field studies, with inclusion criteria based on data quality and geographic area of the original study. Combined historical and modern data showed that gull egg size declined at an average of 0.04 cc y−1 from 1902 (108 y), equivalent to a decline of 5% of mean egg volume, while clutch size decreased over 48 y from a mean of 2.82 eggs per clutch in 1962 to 2.25 in 2009. There was a negative relationship between lay date and mean clutch size in a given year, with smaller clutches occurring in years where egg laying commenced later. Lay date itself advanced over time, with commencement of laying presently (2008–2010) 7 d later than in previous studies (1959–1986). This study demonstrates that glaucous-winged gull investment in egg production has declined significantly over the past ∼50–100 y, with such changes potentially contributing to recent population declines. Though gulls are generalist feeders that should readily be able to buffer themselves against food web changes, they are likely nutritionally constrained during the early breeding period, when egg production requirements are ideally met by consumption of high-quality prey such as forage fish. This study's results suggest a possible decline in the availability of such prey, and the incremental long-term impoverishment of a coastal marine ecosystem bordering one of North America's rapidly growing urban areas

Use of Genome-Wide Expression Data to Mine the "Gray Zone" of GWA Studies Leads to Novel Candidate Obesity Genes

Peer reviewe

Pairwise Measures of Causal Direction in the Epidemiology of Sleep Problems and Depression

Peer reviewe

Imaging of the Muscle-Bone Relationship

Muscle can be assessed by imaging techniques according to its size (as thickness, area, volume, or alternatively, as a mass) and architecture (fiber length and pennation angle), with values used as an anthropometric measure or a surrogate for force production. Similarly, the size of the bone (as area or volume) can be imaged using MRI or pQCT, although typically bone mineral mass is reported. Bone imaging measures of mineral density, size, and geometry can also be combined to calculate bone’s structural strength—measures being highly predictive of bone’s failure load ex vivo. Imaging of muscle-bone relationships can, hence, be accomplished through a number of approaches by adoption and comparison of these different muscle and bone parameters, dependent on the research question under investigation. These approaches have revealed evidence of direct, mechanical muscle-bone interactions independent of allometric associations. They have led to important information on bone mechanoadaptation and the influence of muscular action on bone, in addition to influences of age, gender, exercise, and disuse on muscle-bone relationships. Such analyses have also produced promising diagnostic tools for clinical use, such as identification of primary, disuse-induced, and secondary osteoporosis and estimation of bone safety factors. Standardization of muscle-bone imaging methods is required to permit more reliable comparisons between studies and differing imaging modes, and in particular to aid adoption of these methods into widespread clinical practice