Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives. Parental somatic mosaicism was confirmed and quantified by Ion Torrent Personal Genome Machine (PGM) and Raindrop droplet digital PCR (ddPCR). The families were followed up and prenatal diagnosis was provided. Result: Mosaicisms of SCN1A gene mutation in parents were identified in 5.2% (30 out of 575) DS families. Seventeen were fathers and thirteen were mothers. The mutant allele proportion ranged from 1.7% to 32.9% by PGM and from 0.82% to 34.51% by ddPCR, respectively. In 30 parents with somatic mosaicism, thirteen were asymptomatic, ten had a history of febrile seizures (FS), five with epilepsy, one with febrile seizure plus and one had a history of afebrile seizure. Four families had two children with DS. Three siblings of the probands were confirmed genetically with the same pathogenic mutation. One deceased sister of the proband was assumed to have the same pathogenic mutation because she matched DS diagnosis after medical history review despite no blood sample. Two families received prenatal diagnosis. One second pregnancy was terminated because the fetus inherited the mutation as the mother's wish. Conclusion: Sanger sequencing detects parents of some children with DS are SCN1A mutation mosaics. PGM and ddPCR can be used for accurate quantification of mutant mosaics, which can provide accurate guidance for family genetic counseling.
The particle phase state is a key factor for determining gas particle partitioning, particle reactive gas uptake, and multiphase chemical reactions, with associated links to secondary aerosol formation. In this study, the particle phase state was investigated by measuring particle rebound fraction fin the highly polluted atmosphere of Beijing, China. The particle phase state was sensitive to ambient relative humidity (RH). The particles changed from rebounding to adhering when the RH increased above 60%, suggesting a transition from the semisolid to liquid state. This transition RH was below the deliquescence RH of both (NH4)(2)SO4 and NH4NO3. Submicrometer particles were in the liquid state during heavy haze episodes. This might be because the elevated RH and inorganic fraction in particles resulted in an increase in aerosol liquid water content. The transition to a liquid phase state, marking the beginning of the haze episode, might kick off a positive feedback loop. The liquid particles might readily take up pollutants that then react to form inorganics, thereby further increasing the rate of water uptake. We propose that the liquid phase state facilitates the mass transfer and multiphase reactions of the particles, thereby accelerating secondary particle growth in haze over the North China Plain.
The particle phase state is a key factor for determining gas particle partitioning, particle reactive gas uptake, and multiphase chemical reactions, with associated links to secondary aerosol formation. In this study, the particle phase state was investigated by measuring particle rebound fraction fin the highly polluted atmosphere of Beijing, China. The particle phase state was sensitive to ambient relative humidity (RH). The particles changed from rebounding to adhering when the RH increased above 60%, suggesting a transition from the semisolid to liquid state. This transition RH was below the deliquescence RH of both (NH4)(2)SO4 and NH4NO3. Submicrometer particles were in the liquid state during heavy haze episodes. This might be because the elevated RH and inorganic fraction in particles resulted in an increase in aerosol liquid water content. The transition to a liquid phase state, marking the beginning of the haze episode, might kick off a positive feedback loop. The liquid particles might readily take up pollutants that then react to form inorganics, thereby further increasing the rate of water uptake. We propose that the liquid phase state facilitates the mass transfer and multiphase reactions of the particles, thereby accelerating secondary particle growth in haze over the North China Plain.
The ultralow friction between atomic layers of hexagonal MoS2, an important solid lubricant and additive of lubricating oil, is thought to be responsible for its excellent lubricating performances. However, the quantitative frictional properties between MoS2 atomic layers have not been directly tested in experiments due to the lack of conventional tools to characterize the frictional properties between 2D atomic layers. Herein, a versatile method for studying the frictional properties between atomic-layered materials is developed by combining the in situ scanning electron microscope technique with a Si nanowire force sensor, and the friction tests on the sliding between atomic-layered materials down to monolayers are reported. The friction tests on the sliding between incommensurate MoS2 monolayers give a friction coefficient of ≈10−4 in the regime of superlubricity. The results provide the first direct experimental evidence for superlubricity between MoS2 atomic layers and open a new route to investigate frictional properties of broad 2D materials.
A large triangular arylene-ethynylene macrocycle featuring unique circularly arranged -[D-pi-A](3)- electronic characteristics is designed and synthesized. The shape-persistent pi-conjugated backbone is composed of alternating electron-rich dialkoxyphenanthrene and electron-deficient dicyanodibenzo[f, h] quinoxaline units, connected by ethynylene linkers. The synthesis of such a special macrocyclic molecule is realized by employing a post-cyclization functional group installation strategy. The absorption and emission spectra of the macrocycle are found sensitively dependent on the solvent polarity. By virtue of a conjugated pi-scaffold and a cyclic -[D-pi-A](3)- motif, evident two-photon absorption (2PA) and two-photon excitation fluorescence properties are exhibited, with a 2PA cross section maximum of 3 x 10(3) GM determined by the Z-scan method.
Rapid economic development and urbanization in China has been concentrated in coastal cities, resulting in haze and photochemical smog issues, especially in the densely-populated Yangtze River Delta. In this study, we explore particulate matter (specifically PM2.5) pollution in a city in Zhejiang Province (Ningbo), chosen to represent a typical, densely-populated urban city with residential and industrial sections. PM2.5 samples were collected at five sites in four seasons from Dec. 2012 to Nov. 2013. The annual average PM2.5 mass concentration was 53.2 +/- 30.4 mu g/m(3), with the highest concentration in winter and lowest in summer. Among the five sites, PM2.5 concentration was highest in an urban residential site and lowest in a suburban site, due to effects of urbanization and the anthropogenic influences. The chemical components of PM2.5 show significant seasonal variation. In addition, secondary transformation was high in Ningbo, with the highest proportion of secondary components found at a suburban site and the lowest at the industrial sites. Ningbo is controlled by five major air masses originating from inland China, from the Bohai Sea, offshore from the southeast, the Yellow Sea, and off the east coast of Korea. The relative contributions of these air masses differ, by season, with the Bohai Sea air mass dominating in winter and spring, the maritime southeast air mass in summer, and the YellowSea and coastal Korean air masses dominating in autumn. The continental air mass is associated with a high PM2.5 concentration, indicating that it is primarily transports primary emissions. In contrast, the concentration ratios among secondary formed pollutants were higher in the maritime air masses, which suggests that sea breezes control temporal and spatial variations of air pollution over coastal cities. (C) 2017 Published by Elsevier B.V.
Rapid economic development and urbanization in China has been concentrated in coastal cities, resulting in haze and photochemical smog issues, especially in the densely-populated Yangtze River Delta. In this study, we explore particulate matter (specifically PM2.5) pollution in a city in Zhejiang Province (Ningbo), chosen to represent a typical, densely-populated urban city with residential and industrial sections. PM2.5 samples were collected at five sites in four seasons from Dec. 2012 to Nov. 2013. The annual average PM2.5 mass concentration was 53.2 +/- 30.4 mu g/m(3), with the highest concentration in winter and lowest in summer. Among the five sites, PM2.5 concentration was highest in an urban residential site and lowest in a suburban site, due to effects of urbanization and the anthropogenic influences. The chemical components of PM2.5 show significant seasonal variation. In addition, secondary transformation was high in Ningbo, with the highest proportion of secondary components found at a suburban site and the lowest at the industrial sites. Ningbo is controlled by five major air masses originating from inland China, from the Bohai Sea, offshore from the southeast, the Yellow Sea, and off the east coast of Korea. The relative contributions of these air masses differ, by season, with the Bohai Sea air mass dominating in winter and spring, the maritime southeast air mass in summer, and the YellowSea and coastal Korean air masses dominating in autumn. The continental air mass is associated with a high PM2.5 concentration, indicating that it is primarily transports primary emissions. In contrast, the concentration ratios among secondary formed pollutants were higher in the maritime air masses, which suggests that sea breezes control temporal and spatial variations of air pollution over coastal cities. (C) 2017 Published by Elsevier B.V.
Rapid economic development and urbanization in China has been concentrated in coastal cities, resulting in haze and photochemical smog issues, especially in the densely-populated Yangtze River Delta. In this study, we explore particulate matter (specifically PM2.5) pollution in a city in Zhejiang Province (Ningbo), chosen to represent a typical, densely-populated urban city with residential and industrial sections. PM2.5 samples were collected at five sites in four seasons from Dec. 2012 to Nov. 2013. The annual average PM2.5 mass concentration was 53.2 +/- 30.4 mu g/m(3), with the highest concentration in winter and lowest in summer. Among the five sites, PM2.5 concentration was highest in an urban residential site and lowest in a suburban site, due to effects of urbanization and the anthropogenic influences. The chemical components of PM2.5 show significant seasonal variation. In addition, secondary transformation was high in Ningbo, with the highest proportion of secondary components found at a suburban site and the lowest at the industrial sites. Ningbo is controlled by five major air masses originating from inland China, from the Bohai Sea, offshore from the southeast, the Yellow Sea, and off the east coast of Korea. The relative contributions of these air masses differ, by season, with the Bohai Sea air mass dominating in winter and spring, the maritime southeast air mass in summer, and the YellowSea and coastal Korean air masses dominating in autumn. The continental air mass is associated with a high PM2.5 concentration, indicating that it is primarily transports primary emissions. In contrast, the concentration ratios among secondary formed pollutants were higher in the maritime air masses, which suggests that sea breezes control temporal and spatial variations of air pollution over coastal cities. (C) 2017 Published by Elsevier B.V.
Rapid economic development and urbanization in China has been concentrated in coastal cities, resulting in haze and photochemical smog issues, especially in the densely-populated Yangtze River Delta. In this study, we explore particulate matter (specifically PM2.5) pollution in a city in Zhejiang Province (Ningbo), chosen to represent a typical, densely-populated urban city with residential and industrial sections. PM2.5 samples were collected at five sites in four seasons from Dec. 2012 to Nov. 2013. The annual average PM2.5 mass concentration was 53.2 +/- 30.4 mu g/m(3), with the highest concentration in winter and lowest in summer. Among the five sites, PM2.5 concentration was highest in an urban residential site and lowest in a suburban site, due to effects of urbanization and the anthropogenic influences. The chemical components of PM2.5 show significant seasonal variation. In addition, secondary transformation was high in Ningbo, with the highest proportion of secondary components found at a suburban site and the lowest at the industrial sites. Ningbo is controlled by five major air masses originating from inland China, from the Bohai Sea, offshore from the southeast, the Yellow Sea, and off the east coast of Korea. The relative contributions of these air masses differ, by season, with the Bohai Sea air mass dominating in winter and spring, the maritime southeast air mass in summer, and the YellowSea and coastal Korean air masses dominating in autumn. The continental air mass is associated with a high PM2.5 concentration, indicating that it is primarily transports primary emissions. In contrast, the concentration ratios among secondary formed pollutants were higher in the maritime air masses, which suggests that sea breezes control temporal and spatial variations of air pollution over coastal cities. (C) 2017 Published by Elsevier B.V.
Anaerobic ammonium-oxidizing (anammox) process can play an important role in freshwater nitrogen cycle. However, the distribution of anammox bacteria in freshwater lake and the associated environmental factors remain essentially unclear. The present study investigated the temporal and spatial dynamics of sediment anammox bacterial populations in eutrotrophic Dianchi Lake and mesotrophic Erhai Lake on the Yunnan Plateau (southwestern China). The remarkable spatial change of anammox bacterial abundance was found in Dianchi Lake, while the relatively slight spatial shift occurred in Erhai Lake. Dianchi Lake had greater anammox bacterial abundance than Erhai Lake. In both Dianchi Lake and Erhai Lake, anammox bacteria were much more abundant in summer than in spring. Anammox bacterial community richness, diversity, and structure in these two freshwater lakes were subjected to temporal and spatial variations. Sediment anammox bacterial communities in Dianchi Lake and Erhai Lake were dominated by Candidatus Brocadia and a novel phylotype followed by Candidatus Kuenenia; however, these two lakes had distinct anammox bacterial community structure. In addition, trophic status determined sediment anammox bacterial community structure.
Based on the principle of a relativistic electron cyclotron maser, gyrotrons can generate high-power coherent radiation in the millimeter-terahertz (THz) waveband. A pulse magnet can generate an ultra-high field strength, and simultaneously reduces the volume by several times compared with a conventional superconducting magnet, which promotes a THz gyrotron to break the 1 THz barrier. However, only an extremely short duration around the peak field of the pulse magnet can be used for a conventional open-cavity gyrotron fixed-frequency operation. In this letter, a novel gyrotron interaction scheme is proposed to excite the broadband THz radiation by integrating a broadband pre-bunched interaction circuit with a pulse magnet, which is a promising way to expand the frequency tuning bandwidth, enlarge the magnetic field by utilizing the range of the pulse magnet, extend the operating pulse duration of a gyrotron, and realize the quasi-continuous operation of a pulse magnet gyrotron. After an investigation into the frequency and time domains, a broadband pulse gyrotron driven by a 20 kV low-voltage electron beam is predicted to generate radiation with a frequency of between 0.328 and 0.338 THz, with a peak power of 2.1 kW in a 6 ms pulse duration.
A minigyrotron scheme controlled by a compact pulse magnet to excite broadband terahertz (THz) radiation is presented here. In comparison to an open-cavity circuit, the adopted prebunched backward-wave interaction circuit can expand tuning bandwidth tenfold under the control of time-varying magnetic field strength, which also significantly extends the available duration time of the pulse magnet for gyrotron operation. A quasi-optical mode convertor and a Brewster window constitute the output system to transfer the broadband radiation from the circuit into free space. A systematic gyrotron design is also presented. Driven by a low-voltage electron beam, the minigyrotron is predicted to generate radiation with 10-GHz tuning bandwidth around 0.33 THz and a maximum peak power of 2.1 kW with 6-ms pulse duration, using a TE6,2 mode interaction. Such a THz gyrotron with broad tunable bandwidth, kilowatt level power, and with the unique advantage of a compact configuration is the key to high-power THz scientific and industrial applications.