Concurrent hearing and genetic screening of newborns is expected to play important roles not only in early detection and diagnosis of congenital deafness, which triggers intervention, but also in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced HL. Concurrent hearing and genetic screening in the whole newborn population in Beijing was launched in January 2012. This study included 180,469 infants born in Beijing between April 2013 and March 2014, with last followup on February 24, 2018. Hearing screening was performed using transiently evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (AABR). For genetic testing, dried blood spots were collected and nine variants in four genes, GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened using a DNA microarray platform. Of the 180,469 infants, 1,915 (1.061%) were referred bilaterally or unilaterally for hearing screening; 8,136 (4.508%) were positive for genetic screening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasmy or heteroplasmy), among whom 7,896 (4.375%) passed hearing screening. Forty (0.022%) infants carried two variants in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those infants passed newborn hearing screening. In total, 409 (0.227%) infants carried the mtDNA 12S rRNA variant (m.1555A>G or m.1494C>T), and 405 of them passed newborn hearing screening. In this cohort study, 25% of infants with pathogenic combinations of GJB2 or SLC26A4 variants and 99% of infants with an m.1555A>G or m.1494C>T variant passed routine newborn hearing screening, indicating that concurrent screening provides a more comprehensive approach for management of congenital deafness and prevention of ototoxicity.
Particulate matter (PM) is a major factor contributing to air quality deterioration that enters the atmosphere as a consequence of various natural and anthropogenic activities. In PM, polycyclic aromatic hydrocarbons (PAHs) represent a class of organic chemicals with at least two aromatic rings that are mainly directly emitted via the incomplete combustion of various organic materials. Numerous toxicological and epidemiological studies have proven adverse links between exposure to particulate matter-bound (PM-bound) PAHs and human health due to their carcinogenicity and mutagenicity. Among human exposure routes, inhalation is the main pathway regarding PM-bound PAHs in the atmosphere. Moreover, the concentrations of PM-bound PAHs differ among people, microenvironments and areas. Hence, understanding the behaviour of PM-bound PAHs in the atmosphere is crucial. However, because current techniques hardly monitor PAHs in real-time, timely feedback on PAHs including the characteristics of their concentration and composition, is not obtained via real-time analysis methods. Therefore, in this review, we summarize personal exposure, and indoor and outdoor PM-bound PAH concentrations for different participants, spaces, and cities worldwide in recent years. The main aims are to clarify the characteristics of PM-bound PAHs under different exposure conditions, in addition to the health effects and assessment methods of PAHs.
Background: Background sites are mainly affected by long-range-transported air pollutants, resulting in potential adverse effects on local atmospheric environments. A 4–5 year observational study was conducted to illustrate the air pollution profile at the Kanazawa University Wajima air monitoring station (KUWAMS), an ideal remote background site in Japan. Methods: Nine polycyclic aromatic hydrocarbons (PAHs) in the particulate phase and various air pollutants were continuously monitored for 4–5 years. Diagnostic ratios of PAHs and back-trajectory analysis were applied to trace the possible sources of the air pollutants collected at the sampling site. Results: The atmospheric concentration of PAHs in the atmosphere at the site decreased from 2014 to 2019, benefit from the predominant air pollution control policy in China and Japan. Common air pollutants including sulfur dioxide (SO2), nitrogen oxides (NOx), ozone, methane (CH4), and non-methane hydrocarbon (NMHC) were detected in low concentrations from 2016 to 2019, while ozone (O3) and particulate matter (PM2.5, PM with a diameter less than 2.5 μm) were present in high levels that exceeded the Japanese standards. Most air pollutants peaked in spring and showed evident diurnal variations in spring and summer. Conclusions: This is the first study to clarify the atmospheric behaviors of multiple air pollutants at a background site in Japan. Significant external air pollutant impact and unneglectable air pollution were demonstrated at KUWAMS, indicating the importance of studying atmospheric pollution at remote sites.
Transcription factors (TFs) are crucial components of regulatory networks that control gene transcription. Current TF assays are limited to the analysis of a single TF or require TF-specific antibodies. Here we report the Single Primer Amplification assisted Oligonucleotide Array-based Transcription Factor Assay (SPA-OATFA) which can directly analyze the binding activities of 240 human TFs simultaneously. Examining early events during serum-stimulation of HeLa cells as a model, we demonstrated the utility of SPA-OATFA combined with whole genome gene expression to systematically map the temporal activation of signaling pathways. Both TFs known to function in this stimulation response such as EGR1 and AP1 and new TFs such as HSF1 were identified. This information, combined with mRNA profiling, provided novel insights into the activities of regulatory pathways, and illustrates the potential of SPA-OATFA in detailed systems biology analysis of cell responses.
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