Legius syndrome in fourteen families

Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties. It is caused by germline loss-of-function SPRED1 mutations and is a member of the RAS-MAPK pathway syndromes. Most mutations result in a truncated protein and only a few inactivating missense mutations have been reported. Since only a limited number of patients has been reported up until now, the full clinical and mutational spectrum is still unknown. We report mutation data and clinical details in fourteen new families with Legius syndrome. Six novel germline mutations are described. The Trp31Cys mutation is a new pathogenic SPRED1 missense mutation. Clinical details in the 14 families confirmed the absence of neurofibromas, and Lisch nodules, and the absence of a high prevalence of central nervous system tumors. We report white matter T2 hyperintensities on brain MRI scans in 2 patients and a potential association between postaxial polydactyly and Legius syndrome.     

Barriers to healthcare as reported by rural and urban interprofessional providers

The research literature is replete with reports of barriers to care perceived by rural patients seeking healthcare. Less often reported are barriers perceived by the rural healthcare providers themselves. The current study is an extensive survey of over 1,500 healthcare providers randomly selected from two US states with large rural populations, Alaska and New Mexico. Barriers consistently identified across rural and urban regions by all healthcare professionals were Patient Complexity, Resource Limitations, Service Access, Training Constraints, and Patient Avoidance of Care. Findings confirmed that rural areas, however, struggle more with healthcare barriers than urban and small urban areas, especially as related to Resource Limitations, Confidentiality Limitations, Overlapping Roles, Provider Travel, Service Access, and Training Constraints. Almost consistently, the smaller a provider's practice community, the greater the reports of barriers, with the most severe barriers reported in small rural communities.     

Patient requests and provider suggestions for alternative treatments as reported by rural and urban care providers

OBJECTIVES: Explored the relationship between different types of care providers' willingness to suggest alternative and complementary treatments (CAM), patients' requests for CAM, and provider perceptions about CAM as barriers to effective healthcare. DESIGN: Large survey. SETTING: Alaska and New Mexico. MAIN MEASURES: Survey responses from 1528 physical and behavioral healthcare providers. RESULTS: Over 97% of providers suggested CAM; over 97% reported patients asked for CAM. Providers were more likely to suggest CAM than perceived CAM as a barrier to care. Healthcare providers who were female, from small rural areas, or specializing in behavioral healthcare were more likely to suggest CAM and less likely to perceive CAM as a barrier. Patients of physical healthcare providers asked for CAM more often than patients of behavioral healthcare providers, yet physical care providers suggested CAM less frequently. CONCLUSIONS: Healthcare providers of all disciplines, regions, and gender are sensitive to patients' desire for CAM and do not perceive CAM as a barrier to care.