A multiple risk factor intervention that focused on increasing motivation to change and problem-solving skills did not significantly improve behavioral outcomes, compared to minimal counseling. Patients admitted to the CPOU demonstrated sustained changes in several cardiovascular health beliefs and risk-related behaviors during follow-up; this provides further evidence that the CPOU visit is a "teachable moment" for cardiovascular risk reduction. Future studies should evaluate the effectiveness of ED-initiated counseling interventions to engage patients in changing cardiovascular risk behaviors, in coordination with primary care.

Health concerns and management strategies among families of young and middle-age adults with Huntington’s disease (HD) are unknown. This study developed and tested psychometric properties of the Huntington Disease Family Concerns and Strategies Survey (HDFCSS). Focus group data from 91 adult family members were used to develop content. Content analysis yielded four domains that were transferred into Personal, Person With HD, Community Health Care Services, and Strategies scales. Focus group data, expert validation, and cognitive interviews demonstrated survey content validity. Cronbach’s alpha internal consistency coefficients for the scales were 0.83 or above. The measure can be used to generate reliable and valid data to identify adult family members’ health-related concerns and management strategies for themselves and persons with HD.

BackgroundVitamin D deficiency has been implicated as a factor in a number of infectious and inflammatory lung diseases. In the lung, alveolar macrophages play a key role in inflammation and defense of infection, but there are little data exploring the immunomodulatory effects of vitamin D on innate lung immunity in humans. The objective of this study was to determine the effects of vitamin D supplementation on gene expression of alveolar macrophages.MethodsWe performed a parallel, double-blind, placebo-controlled, randomized trial to determine the effects of vitamin D on alveolar macrophage gene expression. Vitamin D3 (1000 international units/day) or placebo was administered to adults for three months. Bronchoscopy was performed pre- and post-intervention to obtain alveolar macrophages. Messenger RNA was isolated from the macrophages and subjected to whole genome exon array analysis. The primary outcome was differential gene expression of the alveolar macrophage in response to vitamin D supplementation. Specific genes underwent validation by polymerase chain reaction methods.ResultsFifty-eight subjects were randomized to vitamin D (n = 28) or placebo (n = 30). There was a marginal overall difference between treatment group and placebo group in the change of 25-hydroxyvitaminD levels (4.43 ng/ml vs. 0.2 ng/ml, p = 0.10). Whole genome exon array analysis revealed differential gene expression associated with change in serum vitamin D levels in the treated group. CCL8/MCP-2 was the top-regulated cytokine gene and was further validated.ConclusionsAlthough only a non-significant increased trend was seen in serum vitamin D levels, subjects treated with vitamin D supplementation had immune-related differential gene expression in alveolar macrophages.Trial registrationClinicalTrials.org: NCT01967628.

INTRODUCTION There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening. METHODS Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified as affected with MCADD in the Inborn Errors of Metabolism – Information System (IBEM-IS), a long term follow-up database of the Inborn Errors of Metabolism Collaborative, was performed. RESULTS The average age at notification of first newborn screen results to primary care or metabolic providers was 7.45 days. The average octanoylcarnitine (C8) value on first newborn screen was 11.2 umol/L (median 8.6, range 0.36–43.91). A higher C8 level correlated with an earlier first subspecialty visit. Subjects with low birth weight had significantly lower C8 values. Significantly higher C8 values were found in symptomatic newborns, in newborns with abnormal lab testing in addition to newborn screening and/or diagnostic tests, and in subjects homozygous for the c.985A>G ACADM gene mutation or compound heterozygous for the c.985A>G mutation and deletions or other known highly deleterious mutations. Subjects with neonatal symptoms, or neonatal abnormal labs, or neonatal triggers were more likely to have at least one copy of the severe c.985A>G ACADM gene mutation. C8 and genotype category were significant predictors of the likelihood of having neonatal symptoms. Neonates with select triggers were more likely to have symptoms and laboratory abnormalities. CONCLUSIONS This collaborative study is the first in the United States to describe health associations of a large cohort of newborn-screened neonates identified as affected with MCADD. The IBEM-IS has utility as a platform to better understand the characteristics of individuals with newborn-screened conditions and their follow-up interactions with the health system.

Vaping is associated with an increased risk of lung injury; however, each case of vaping-associated lung injury leads to varying degrees of lung injury, and the response to therapy can be heterogeneous. Corticosteroid use has been suggested as a treatment for lung injuries associated with vaping. We report a case of e-cigarette or vaping product use-associated lung injury (EVALI) that resulted in acute hypoxic respiratory failure. A 20-year-old woman presented with complaints of sore throat, dry cough, shortness of breath, and pleuritic chest pain. The patient admitted to vaping regularly for the past three years. The patient was found to be severely hypoxemic with respiratory distress and was intubated shortly after her arrival at the emergency department. She was treated with a short course of corticosteroids with tapering of the dose based on her response with significant improvement, and she was extubated on the seventh day of her admission. EVALI is a syndrome associated with severe lung injury that results in acute respiratory failure that is clinically indistinguishable from acute respiratory distress syndrome, and it is largely a diagnosis of exclusion. The use of systemic corticosteroids in treating these patients should be considered after excluding an infectious etiology.