Many genetics/genomics education programs for nongenetic health professionals exist. Nevertheless, enhancement in methodological quality is needed to strengthen education initiatives.Genet Med advance online publication 20 October 2016.
Background: Available methods to quantify regional dynamic thoracic function in thoracic insufficiency syndrome (TIS) are limited. Purpose: To evaluate the use of quantitative dynamic MRI to depict changes in regional dynamic thoracic function before and after surgical correction of TIS. Materials and Methods: Images from free-breathing dynamic MRI in pediatric patients with TIS (July 2009-August 2015) were retrospectively evaluated before and after surgical correction by using vertical expandable prosthetic titanium rib (VEPTR). Eleven volumetric parameters were derived from lung, chest wall, and diaphragm segmentations, and parameter changes before versus after operation were correlated with changes in clinical parameters. Paired analysis from Student t test on MRI parameters and clinical parameters was performed to detect if changes (from preoperative to postoperative condition) were statistically significant. Results: Left and right lung volumes at end inspiration and end expiration increased substantially after operation in pediatric patients with thoracic insufficiency syndrome, especially right lung volume with 22.9% and 26.3% volume increase at end expiration (P = .001) and end inspiration (P = .002), respectively. The average lung tidal volumes increased after operation for TIS; there was a 43.8% and 55.3% increase for left lung tidal volume and right lung tidal volume (P , .001 for both), respectively. However, clinical parameters did not show significant changes from pre-to posttreatment states. Thoracic and lumbar Cobb angle were poor predictors of MRI tidal volumes (chest wall, diaphragm, and left and right separately), but assisted ventilation rating and forced vital capacity showed moderate correlations with tidal volumes (chest wall, diaphragm, and left and right separately). Conclusion: Vertical expandable prosthetic titanium rib operation was associated with postoperative increases in all components of tidal volume (left and right chest wall and diaphragm, and left and right lung tidal volumes) measured at MRI. Clinical parameters did not demonstrate improvements in postoperative tidal volumes.
In the United States, prenatal genetic testing (PGT) for Autism Spectrum Disorders (ASD) is currently available via clinical genetic services. Such testing may inform parents about their unborn child's risk for ASD, prepare parents for the birth of an affected infant, and allow them to arrange for early interventions. Although PGT for autism has potential benefits, the associated ethical, legal, and social implications (ELSI) should be considered. This first qualitative study employed a hypothetical scenario to explore the attitudes toward PGT and termination decisions of 42 parents of children with ASD. Over half of the participants expressed willingness to undergo PGT for autism. Reasons included better preparation for birth, early and better treatment, termination of affected pregnancy, contribution to research, and curiosity. Of the 31 parents who were either willing or unsure about undergoing the PGT, approximately three-fourths would continue their hypothetical affected pregnancies. Explanations included preparation for birth of the child, bonding or acceptance of existing ASD-affected children, apprehensions about test limitations, and religious concerns. Parents who reported they would terminate the affected pregnancy in this hypothetical situation were primarily Asians. This study contributes to the growing understanding of the ELSI aspects of PGT in clinical practice.
BackgroundMost older cancer survivors (OCS) do not engage in regular physical activity (PA) despite well-known health benefits. With the increased use of mobile technologies among older adults, mobile tools may be an effective method to deliver PA promotion programs for OCS.ObjectiveTo document the process of designing an OCS-friendly mobile-enabled Web application of PA promotion program.MethodsMixed methods encompassing group discussions, individual interviews, and brief surveys with community leaders, OCS, cancer care providers, and software professionals were used in this formative research.ResultsThe varied stakeholders welcomed the idea of developing an online tool to promote PA in OCS. Our formative research revealed several major barriers to regular PA including limited access to senior-friendly PA resources, lack of motivation and social support, and insufficient knowledge and skills on building safe and appropriate workout plans. This feedback was incorporated into the development of iCanFit, a mobile-enabled Web application, designed specifically for OCS. The iCanFit online tools allow users to locate PA resources, set and track goals for PA, network with peer OCS in a secure online space, and receive practical and evidence-informed healthy tips.ConclusionsOur mixed-method formative research led to the design of iCanFit protocol to promote PA and well-being of OCS. The involvement of stakeholders is critical in the planning and design of the mobile application in order to enhance program relevance, appeal, and match with the needs of target users.
Background: Socioeconomic deprivation increases fracture incidence in adolescents, but its impact on fracture care is unknown. The area deprivation index (ADI), which incorporates 17 factors from the U.S. Census, measures socioeconomic deprivation in neighborhoods. This investigation aimed to determine the impact of socioeconomic deprivation and other socioeconomic factors on fracture care compliance in adolescents. Methods: This study included patients who were 11 to 18 years of age and received fracture care at a single urban children’s hospital system between 2015 and 2017. Demographic information (sex, race, caregiver status, insurance type) and clinical information (mechanism of injury, type of treatment) were obtained. The ADI, which has a mean score of 100 points and a standard deviation of 20 points, was used to quantify socioeconomic deprivation for each patient’s neighborhood. The outcome variables related to compliance included the quantity of no-show visits at the orthopaedic clinic and delays in follow-up care of >1 week. Risk factors for suboptimal compliance were evaluated by bivariate analysis and multivariate logistic regression. Results: The cohort included 457 adolescents; 75.9% of the patients were male, and the median age was 16.1 years. The median ADI was 101.5 points (interquartile range, 86.3 to 114.9 points). Bivariate analyses demonstrated that higher ADI, black race, single-parent caregiver status, Medicaid insurance, non-sports mechanisms of injury, and surgical management are associated with suboptimal fracture care compliance. Adolescents from the most socially deprived regions were significantly more likely to have delays in care (33.8% compared with 20.1%; p = 0.037) and miss scheduled orthopaedic visits (29.9% compared with 7.1%; p < 0.001) compared with adolescents from the least deprived regions. ADI, Medicaid insurance, and initial presentation to the emergency department were independent predictors of suboptimal care compliance, when controlling for other variables. Conclusions: Socioeconomic deprivation is associated with an increased risk of suboptimal fracture care compliance in adolescents. Clinicians can utilize caregiver and insurance status to better understand the likelihood of fracture care compliance. These findings highlight the importance of understanding differences in each family’s ability to adhere to the recommended follow-up and of implementing measures to enhance compliance.
For those diagnosed with cancer, lifestyle factors including diet can be more important than ever. However, lack of nutrition-related knowledge can pose a significant barrier to healthy eating. Food labels guide consumers in selecting appropriate portion sizes-that is, caloric content-and ensuring adequate intake of nutrients. Data from the 2013-2014 HINTS were used to examine (a) differences in food label use and food label literacy between respondents ever had a cancer diagnosis and those never had a diagnosis; (b) sociodemographic correlates and health-related correlates of food label use and literacy, in a context of cancer diagnosis; and (c) potential association between food label use/literacy and each of two dietary choices, eating vegetables and fruits and limiting intake of sugary drinks, again, in a context of cancer diagnosis. Data was analyzed via SPSS version 24.0, and cross tabulations using Pearson's Chi-square test and logistic regressions. Income, gender and non-participation in support groups were associated with food label literacy (p<.05). Confidence to take care of self was associated with food label use (p<.05). Relationships were observed between using food labels and curtailing soda intake (b = -.368, p<.05), eating relatively more fruits (b = .558, p<.05), and eating relatively more vegetables (b = .558, p<.05). The overall models predicting consumption of soda [x2 (2) = 13.70, p = .001, Nagelkerke R-square = .059], of fruits [x2 (2) = 33.87, p < .001, Nagelkerke R-square = .136], and of vegetables [x2 (2) = 36.08, p < .001, Nagelkerke R-square = .144] was statistically significant. Implications for research and practice can be found in results linking food label use to better quality diets. They include the usefulness of nutrition education interventions targeting lower-income men with cancer diagnoses; one lesson should be the use of food labels.
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