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Ischemic stroke (IS), chronic obstructive pulmonary disease (COPD) and diabetes mellitus (DM) account for a large burden of premature deaths. However, few studies have investigated the associations between fine particular matter (PM2.5) components and mortality of IS, COPD and DM. We aimed to examine these associations in Beijing, China. Data on daily mortality, air pollutants and meteorological factors from 2008 to 2011 in Beijing were collected. Daily concentrations of five PM2.5 components, namely, sulfate ion (SO42−), ammonium ion (NH4+), nitrate ion (NO3−), organic matter (OM) and black carbon (BC), were obtained from the Tracking Air Pollution (TAP) database in China. The association between PM2.5 components and daily deaths was explored using a quasi-Poisson regression with the distributed lag nonlinear model (DLNM). The average daily concentrations of SO42−, NH4+, NO3−, OM and BC were 11.24, 8.37, 12.00, 17.34 and 3.32 μg/m3, respectively. After adjusting for temperature, relative humidity, pressure, particulate matter less than 10 μm in aerodynamic diameter (PM10), nitrogen dioxide (NO2) and sulfur dioxide (SO2), an IQR increase in OM at lag day 2 and lag day 6 was associated with an increased DM mortality risk (RR 1.038; 95% CI: 1.005–1.071) and COPD mortality risk (RR 1.013; 95% CI: 1.001–1.026). An IQR increase in BC at lag day 0 and lag day 6 was associated with increased COPD mortality risk (RR 1.228; 95% CI: 1.017–1.48, RR 1.059; 95% CI: 1.001–1.121). Cumulative exposure to SO42− and NH4+ was associated with an increased mortality risk for IS, with the highest effect found for lag of 0–7 days (RR 1.085; 95% CI: 1.010–1.167, RR 1.083; 95% CI: 1.003–1.169). These effects varied by sex and age group. This study demonstrated associations of short-term exposure to PM2.5 components with increased risk of IS, COPD and DM mortality in the general population. Our study also highlighted susceptible subgroups. [ABSTRACT FROM AUTHOR]

Background: Apolipoprotein E (APOE) is closely related to Alzheimer's disease and other age-related diseases. In recent years, several studies have shown an interaction of APOE by age on brain volume. However, validation in larger cohorts is required. Objective: We explored the age-related effect of APOE on brain volumes in a community-dwelling cohort. Methods: Inhabitants in Shunyi District in Beijing aged≥35 years were invited to join this study from 2013 to 2016. The baseline assessments, APOE genotyping and brain magnetic resonance imaging were performed. Neuroimaging small vessel disease characteristics and brain volumes (global measures, cerebral lobes, hippocampus, brainstem, and subcortical nuclei) were acquired. The general linear model was used to analyze the interaction of APOE genotypes by age on brain volumes, and the age of 60 years was chosen as a cut-off value for stratification analysis. Results: A total of 1,105 subjects were enrolled in the final analysis with a mean age of 56.18 (9.30) years, and 37.7% were men. APOEɛ3/ɛ3 carriers account for 71.8%, ɛ2 (+) 14.0%, and ɛ4 (+) 14.2%. Compared with APOEɛ3/ɛ3, a significant protective effect for APOEɛ4 (+) on brain parenchyma fraction (β = 0.450, p = 0.048) was observed in subjects aged≤60 years; in participants aged > 60 years, a negative effect for APOEɛ4 (+) on hippocampus (β = 1.087, p = 0.021) was found. Conclusion: Our study reveals that APOEɛ4 has differential effects on cerebral structures in different stages of lifespan, suggesting its complicated biological function and underlying antagonistic pleiotropy. [ABSTRACT FROM AUTHOR]

High-rise residential estates are characterized by high floor area ratios, many floors, and similar green area ratios. Beijing is hot in summer, and shading is an important strategy to improve the outdoor thermal environment of residential estates in summer. With respect to the morphological characteristics of high-rise residential estates, three types of shading were summarized, and their relationships with air temperature were quantified and analyzed. The three types of shading are building–tree integrated shading, building shading, and tree shading. Two residential estates that can represent the morphological characteristics of high-rise residential estates in Beijing were selected for field measurements, and the cooling effects of the three types of shading were obtained by analyzing the measured data. In the same residential estate, the daytime air temperature difference between shaded and un-shaded areas can be 0.5 °C or more. It was found that building–tree integrated shading has the most significant cooling effect, with building shading and tree shading second. The cooling effect of shading decreases with time, with morning shading having the greatest effect, and afternoon shading having the least effect. [ABSTRACT FROM AUTHOR]

Scoliosis is clinically defined as a spine deformity with lateral curvature greater than 10° and the cause of the disease is elusive. Early onset scoliosis, defined by an onset age before 10 years, conveys a substantial health risk to affected children. Although exome sequencing has emerged as a first-line diagnostic method for rare diseases, genetic testing is not routinely done for children with early onset scoliosis. We aimed to explore the diagnostic yield of exome sequencing in patients with early onset scoliosis. We recruited a Chinese cohort of patients who were clinically diagnosed with early onset scoliosis through the Deciphering disorders Involving Scoliosis and COmorbidities (DISCO). We did exome sequencing on these individuals and available family members. Exome sequencing data were interpreted according to the American College of Medical Genetics and Genomics guidelines. Patients were followed up for a minimum of 2 years. We also recruited an American cohort of 13 patients with clinically diagnosed idiopathic early onset scoliosis, who underwent exome sequencing. We recruited 447 patients in the Chinese cohort and 323 (72%) of 447 patients with early onset scoliosis were followed up for a minimum of 2 years. In the Chinese cohort, we detected diagnostic variants in 92 (21%) of 447 patients with early onset scoliosis, encompassing 33 disease-causing genes and five genomic regions. The age at presentation, the number of organ systems involved, and the Cobb angle were the three features that were most predictive of a molecular diagnosis. Notably, 14 (41%) of 34 patients with non-TBX6-associated congenital scoliosis (TACS) molecular diagnoses had a higher post-surgery complication rate than did the 24 (9·2%) of 260 patients who were molecularly undiagnosed (p=0·000008). In the American cohort, one (8%) of 13 patients had a molecular diagnosis of Sotos syndrome, making the total number of patients in whom we found diagnostic variants 93 (20·2%) of 460. Exome sequencing could identify the genetic cause in patients with early onset scoliosis. Specific clinical features and feature pairs provided indications for genetic testing in these patients. The prevention of post-surgery complications could potentially be implemented for patients with a non-TACS molecular diagnosis. National Natural Science Foundation of China, Beijing Natural Science Foundation, 2016 Milstein Medical Asian American Partnership Foundation Fellowship Award in Translational Medicine, CAMS Initiative Fund for Medical Sciences, the Central Level Public Interest Program for Scientific Research Institute, the National Key Research and Development Program of China, the National Undergraduates Innovation and Training Program of Peking Union Medical College, US National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Human Genome Research Institute and National Heart, Lung, and Blood Institute, the National Human Genome Research Institute, TX Scottish Rite Hospital Research Fund, Foundation Cotrel, and P01 HD084387. [ABSTRACT FROM AUTHOR]