JAMA network open
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To date, few studies have examined the extent to which polygenic single-nucleotide variation (SNV) (formerly single-nucleotide polymorphism) scores modify risk for carriers of pathogenic variants (PVs) in breast cancer susceptibility genes. In previous reports, polygenic risk modification was reduced for BRCA1 and BRCA2 PV carriers compared with noncarriers, but limited information is available for carriers of CHEK2, ATM, or PALB2 PVs. ⋯ In this study, the 86-SNV score was associated with modified risk for carriers of BRCA1, BRCA2, CHEK2, ATM, and PALB2 PVs. This finding supports previous reports of reduced PRS stratification for BRCA1 and BRCA2 PV carriers compared with noncarriers. Modification of risk in CHEK2 carriers associated with the 86-SNV score appeared to be similar to that observed in women without a PV. Larger studies are needed to provide more refined estimates of polygenic modification of risk for women with PVs in other moderate-penetrance genes.
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Randomized Controlled Trial
Effect of Telehealth Extended Care for Maintenance of Weight Loss in Rural US Communities: A Randomized Clinical Trial.
Lifestyle interventions for obesity produce reductions in body weight that can decrease risk for diabetes and cardiovascular disease but are limited by suboptimal maintenance of lost weight and inadequate dissemination in low-resource communities. ⋯ This randomized clinical trial found that providing extended care for obesity management in rural communities via individual telephone counseling decreased weight regain and increased the proportion of participants who sustained clinically meaningful weight losses.
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The epidemiologic and clinical characteristics of pediatric patients with coronavirus disease 2019 (COVID-19) have been reported, but information on immune features associated with disease severity is scarce. ⋯ In this case series, systemic inflammation rarely occurred in pediatric patients with COVID-19, in contrast with the lymphopenia and aggravated inflammatory responses frequently observed in adults with COVID-19. Gaining a deeper understanding of the role of neutrophils, CD4+ T cells, and B cells in the pathogenesis of SARS-CoV-2 infection could be important for the clinical management of COVID-19.
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Association of Hospital Discharge Against Medical Advice With Readmission and In-Hospital Mortality.
Hospital readmissions contribute to higher expenditures and may sometimes reflect suboptimal patient care. Individuals discharged against medical advice (AMA) are a vulnerable patient population and may have higher risk for readmission. ⋯ Individuals discharged AMA have higher odds of 30-day readmission at significant cost to the health care system and lower in-hospital mortality rates compared with non-AMA patients. Patients discharged AMA are also more likely to be readmitted to different hospitals and to have earlier bounce-back readmissions, which may reflect dissatisfaction with their initial episode of care.
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Given the complex relationship between body mass index, body composition, and bone density and the correlative nature of the studies that have established the prevailing notion that higher body mass indices may be protective against osteopenia and osteoporosis and, therefore, fracture, the absolute risk of fracture in patients with severe obesity who undergo either Roux-en-Y gastric bypass (RYGB) or sleeve gastrectomy (SG) compared with those who do not undergo bariatric surgery is unknown. ⋯ In this cohort study, bariatric surgery was associated with a reduced risk of fracture in bariatric surgery-eligible patients. Sleeve gastrectomy might be the best option for weight loss in patients in which fractures could be a concern, as RYGB may be associated with an increased fracture risk compared with SG.