JAMA network open
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PTEN is among the most common autism spectrum disorder (ASD)-predisposition genes. Germline PTEN mutation carriers can develop malignant neoplasms and/or neurodevelopmental disorders such as ASD and developmental delay. Why a single gene contributes to disparate clinical outcomes, even in patients with identical PTEN mutations, remains unclear. ⋯ These findings suggest that copy number variations are associated with the ASD/developmental delay clinical phenotype in PHTS, providing proof of principle for similarly heterogeneous disorders lacking outcome-specific associations.
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Patients undergoing hematopoietic stem cell transplant (HSCT) are at risk for bloodstream infection (BSI) secondary to translocation of bacteria through the injured mucosa, termed mucosal barrier injury-laboratory confirmed bloodstream infection (MBI-LCBI), in addition to BSI secondary to indwelling catheters and infection at other sites (BSI-other). ⋯ In this cohort study, MBI-LCBI, in addition to any BSIs, were associated with significant morbidity and mortality after HSCT. Further investigation into risk reduction should be a clinical and scientific priority in this patient population.
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Multicenter Study
Association of Blood Biomarkers With Acute Sport-Related Concussion in Collegiate Athletes: Findings From the NCAA and Department of Defense CARE Consortium.
There is potential scientific and clinical value in validation of objective biomarkers for sport-related concussion (SRC). ⋯ The results suggest that blood biomarkers can be used as research tools to inform the underlying pathophysiological mechanism of concussion and provide additional support for future studies to optimize and validate biomarkers for potential clinical use in SRC.
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Severe hypoglycemia is a serious and potentially preventable complication of diabetes, with some of the most severe episodes requiring emergency department (ED) care or hospitalization. A variety of health conditions increase the risk of hypoglycemia. People with diabetes often have multiple comorbidities, and the association of such multimorbidity with hypoglycemia risk in the context of other risk factors is uncertain. ⋯ In this cohort study of adults with diabetes, the risk of an ED visit or hospitalization for hypoglycemia appeared to be highest among patients with type 1 diabetes, multiple comorbidities, prior severe hypoglycemia, and sulfonylurea and/or insulin use. At-risk patients may benefit from individualized treatment regimens to decrease their risk of hypoglycemia.
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Associations of educational attainment with improved health outcomes have been found to be weaker among racial/ethnic minority groups compared with those among the racial/ethnic majority group. Recent research has also documented higher than expected prevalence of smoking in highly educated African American and Hispanic adults. ⋯ This study found that high school graduation had a weaker inverse association with tobacco advertisement exposure among Hispanic than non-Hispanic young adults. Future research should explore the role of targeted marketing strategies of the tobacco industry that largely advertise tobacco in areas with high concentrations of racial/ethnic minority groups. Future research should also evaluate the efficacy of more restrictive marketing policies on racial/ethnic disparities in tobacco use.