Background. Marfan syndrome (MFS) is a connective tissue disease involving multiple systems, with thoracic aortic aneurysm (TAA) as the most common life-threatening manifestation. Method. A pedigree with TAA was investigated, and peripheral venous blood was extracted from six family members. After whole exome sequencing (WES) and chromosomal microarray analysis (CMA) in these individuals, bioinformatics and inheritance analyses were performed. Result. WES revealed a novel, small, 0.76 Mb microdeletion in 15q21.1, which cosegregated with the disease phenotype in the family and led to the haploinsufficiency of the fibrillin 1 (FBN1) gene, which is associated with MFS. This small copy number variant (CNV) was confirmed by CMA. Conclusion. Our study expands the phenotypic spectrum of the pathogenic CNV associated with MFS, thereby facilitating clinical genetic diagnosis and future genetic counseling for this family.

To study the interface characteristics between substrates and homoepitaxially grown single crystalline diamond layers, the high-pressure/high-temperature Ib diamond seeds with homoepitaxial diamond layers were annealed by low-pressure/high-temperature treatment in a hydrogen environment. The stress evolution and related impurity transformation near the interface were characterized by Raman spectroscopy, photoluminescence, and micro-infrared spectroscopy before and after annealing. It is found that the stress is the smallest in a 100 μm wide zone near the interface, accompanying with the similar change in substitutional nitrogen (Ns) concentration. After annealing at 1050 °C, 1250 °C, and 1450 °C, the local compressive stress is released gradually with temperature change. It is decreased by 1.03 GPa in maximum after annealing at 1450 °C. The concentration of nitrogen–vacancy (NV) complexes in the chemical vapor deposition (CVD) layer is dramatically reduced at 1450 °C. The value of ${{I_{{\rm{NV}}^ \hbox- } } \mathord{\left/ {\vphantom {{I_{{\rm{NV}}^ - } } {I_{{\rm{diamond}}} }}} \right. \kern-\nulldelimiterspace} {I_{{\rm{diamond}}} }}$ decreases much more than ${{I_{{\rm{NV}}^0 } } \mathord{\left/ {\vphantom {{I_{{\rm{NV}}^0 } } {I_{{\rm{diamond}}} }}} \right. \kern-\nulldelimiterspace} {I_{{\rm{diamond}}} }}$ in the CVD layer, which is due to the lower stability of NV− compared with NV0 at high temperature.

The development of GaN-on-diamond devices offers bright prospects for the creation of high-power density electronics. This article presents a process of fabricating GaN-on-diamond structure by depositing diamond films on dual sides, including heat dissipation diamond film and sacrificial carrier diamond film. Prior to heat dissipation diamond film layer preparation, aluminum nitride (AlN) is chosen as a dielectric layer and pretreated by nanodiamond (ND) particles, to enhance the nucleation density. Zeta potential measurements and X-ray photoelectron spectroscopy are used to analyze the AlN surface after each treatment. The results show that oxygen-terminated ND particles tend to adhere to an AlN surface because the oxygen-terminated NDs have –COOH and –OH groups, and hold a negative potential. On the contrary, fluorine-terminated AlN prefers to attract the hydrogen-terminated ND seeds, which resulted in higher diamond nucleation density. Based on this preliminary study, a dense high-quality GaN-on-diamond wafer is successfully produced by using AlN as the dielectric layer and a diamond film as the sacrificial carrier.

The synergetic effects of surface smoothing exhibited during the inductively coupled plasma reactive ion etching (ICP-RIE) of free-standing polycrystalline diamonds (PCDs) were investigated. Changing the assistive gas types generated variable surface oxidation states and chemical environments that resulted in different etching rates and surface morphologies. The main reaction bond mechanism (C–O) during ICP-RIE and the ratio of C–O–C/O–C=O associated with the existence of a uniform smooth surface with root mean square (RMS) roughness of 2.36 nm were observed. An optimal process for PCD smoothing at high etching rate (4.6 μm/min) was achieved as follows: 10% gas additions of CHF3 in O2 plasma at radio frequency power of 400 W. The further etched ultra-smooth surface with RMS roughness <0.5 nm at etching rate of 0.23 μm/min that being produced by transferring this optimum recipe on single crystal diamonds with surface patterns confirmed the effectiveness of the fast smoothing approach and its feasibility for diamond surface patterning.

China's urbanization has revitalized grassroots governance under which millions of villagers have become increasingly keen to participate in grassroots elections and influence decision making in their village affairs. To maintain its political legitimacy over a rapidly transforming society, the authoritarian party-state has progressively promoted open, competitive grassroots elections in response to the increasing demand by villagers for more public participation. Based on in-depth field research in urbanizing villages in southern China, this article provides an empirical analysis of how the local state has adopted different interventionist strategies in elections to support villagers’ active participation while sustaining its direct leadership over daily village governance. Our findings explain why the recent development of open and transparent grassroots elections is reinforcing the ruling capacity of the socialist state rather than enhancing self-governance and grassroots democracy, although villagers now have more opportunities to defend their economic and social rights through elections.

Sea-ice hazard causes serious harm to aquaculture, marine navigation, offshore oil production and other activities in the Bohai Sea, China. To study the spatial distribution characteristics of sea-ice-hazard risk in Bohai is therefore desirable. The thickness and area of sea ice in the Bohai Sea during the winters (December–March) of 1987–2011 were estimated using data from the NOAA (US National Oceanic and Atmospheric Administration) satellite. The sea-ice thickness was converted into a sea-ice-hazard index after defining this index, and the different sea-ice-hazard risk grades were classified. The occurrence probability of sea-ice hazard was also calculated using fuzzy risk theory, and the spatial distribution characteristics of sea-ice-hazard risk in the Bohai Sea were studied. The results show that the sea-ice-hazard risk for offshore aquaculture decreased as the offshore distance increased. All the oilfields in Liaodong Bay are influenced by sea-ice hazard, two of the fields in Bohai Bay are slightly affected and the remaining fields are not influenced. The risk for marine navigation is related to the location of the port and the distance from the port. The risk in the port area is the highest; it is reduced by more than 30% at distances 10 km away from the port.

To investigate the spatio-temporal characteristics of sea-ice resource, we used sea-ice volume to measure the amount of sea-ice resource in the Bohai Sea, China. The sea-ice area was extracted from Advanced Very High Resolution Radiometer (AVHRR) remote-sensing images using the zonal threshold method. The sea-ice thickness was estimated using a sea-ice model based on shortwave radiation theory and field measurements. The spatio-temporal characteristics of sea-ice volume were then analysed using GIS technology. The results indicate that the Bohai Sea experienced two sea-ice volume peaks in winter 2009/10. The largest sea-ice volume was in Liaodong Bay (∼80.26% of the entire sea-ice volume of the Bohai Sea). Bohai Bay had the second largest ice volume, and Laizhou Bay the smallest. The relationship between sea-ice volume and distance from shore is essentially exponential. The proportion of total sea-ice volume that is 0–10 km from shore is ∼42.43%, whereas the proportion that is 100–110 km from shore is only 0.002%.

Based on recent studies on sea ice and newly developed technologies, this paper examines the requirements and environmental factors for exploitation of sea ice as a freshwater resource. Considering the ‘mining’ of sea ice, the suitability of locations in the Bohai Sea, China, for exploitation was analysed and evaluated using GIS technology. The ice must be >10 cm thick, the intertidal zone must be narrow and the ‘mining’ area must have a water depth of at least 2 m. The sea areas with feasible resources are located mainly in the nearshore area of northern Liaodong Bay and in a narrow and long area along the coast of Bohai Bay. Most coastal areas of northern Liaodong Bay have favourable conditions, while Bohai Bay is widely constrained by unsuitable conditions. According to the status of the resources and the coastal environment conditions, the eastern and western coasts of northern Liaodong Bay are the most suitable areas for exploitation at the current technological level.

We report on the radiative transfer process and optical properties of sea ice in the thermal infrared (TIR) band, presenting two new linear kernel driver models (Relative Emissivity Distribution Function, REDF) that describe TIR emission characteristics of smooth and rough ice. In order to test the models and determine the necessary coefficients, in situ measurements from the Bohai Sea were carried out during the 2011/12 and 2012/13 boreal winters. The results show that the relative emissivity of smooth sea ice decreases along with increasing viewing zenith angle, and the shape of the relative emissivity curve is similar to that of an ideal plane. Affected by parameters such as roughness and surface temperature distribution, the anisotropy of relative emissivity of sea ice with a high degree of roughness is stronger relative to the cosine emitter. The model coefficients were also obtained using a robust regression method based on the measured data. The presented models are more practical than the numerical radiative transfer model and can be used for multi-angular TIR remote sensing.

The long-wave behaviour of perfectly conducting liquid films flowing down a vertical fibre in a radial electric field was investigated by an asymptotic model. The validity of the asymptotic model was verified by the fully linearized problem, which showed that results were in good agreement in the long-wave region. The linear stability analysis indicated that, when the ratio (the radius of the outer cylindrical electrode over the radius of the liquid film) $\def \xmlpi #1{}\def \mathsfbi #1{\boldsymbol {\mathsf {#1}}}\let \le =\leqslant \let \leq =\leqslant \let \ge =\geqslant \let \geq =\geqslant \def \Pr {\mathit {Pr}}\def \Fr {\mathit {Fr}}\def \Rey {\mathit {Re}}\beta <e$, the electric field enhanced the long-wave instability; when $\beta >e$, the electric field impeded the long-wave instability; when $\beta =e$, the electric field did not affect the long-wave instability. The nonlinear evolution study of the asymptotic model compared well with the linear theory when $\beta <e$. However, when $\beta =e$, the nonlinear evolution study showed that the electric field enhanced the instability which may cause the interface to become singular. When $\beta >e$, the nonlinear evolution studies showed that the influence of the electric field on the nonlinear behaviour of the interface was complex. The electric field either enhanced or impeded the interfacial instability. In addition, an interesting phenomenon was observed by the nonlinear evolution study that the electric field may cause an oscillation in the amplitude of permanent waves when $\beta \ge e$. Further study on steady travelling waves was conducted to reveal the influence of electric field on the wave speed. Results showed that the electric field either increased or decreased the wave speed as well as the wave amplitude and flow rate. In some situations, the wave speed may increase/decrease while its amplitude decreased/increased as the strength of the external electric field increased.