Retinitis pigmentosa (RP) is a common phenotype in multiple inherited retinal dystrophies (IRD). Disease gene identification can assist the clinical diagnosis of IRD patients for better clinical management, treatment and counseling. In this study, we aimed to delineate and characterize the disease-causing mutations in Chinese familial and sporadic patients with initial diagnosis of RP. Four unrelated Chinese families and 118 sporadic RP patients were recruited for whole exome sequencing analysis. A total of 5 reported and 3 novel USH2A mutations were identified in four Chinese probands. The probands and their family members showed typical RP features and mild to severe hearing impairment, confirming the diagnosis of Usher syndrome 2 (USH). Moreover, 11 sporadic RP patients were identified to carry the compound heterozygous mutations in the USH2A gene, confirming the diagnosis of USH2. The patients carried the truncating mutations had a younger age of first visit than the patients carried only the missense mutations ( p = 0.017). In summary, this study revealed 8 novel USH2A variants in Chinese familial and sporadic RP patients, assuring that whole exome sequencing analysis is an adequate strategy to facilitate the clinical diagnosis of USH from the sporadic RP patients.

The stability of the interface between mortar and rock is very important in engineering construction. In this paper, the all-digital acoustic emission (AE) system is used to detect the direct shear test of the mortar-rock binary medium interface with different sawtooth angles under different normal stress states. The stress-displacement information and AE signal during the whole shearing process are extracted. The coupling relationship between stress and AE characteristic parameters is discussed. The quantitative relationship between sawtooth angle and shear strength of binary medium is established, and three AE characteristic parameters that can be used to predict structural instability are proposed. The research shows that: With the increase of the normal stress and the sawtooth angle, the shear strength of the mortar-rock binary medium increases. The relationship of that is obtained by least squares fitting. The shear stress-displacement curve is divided into five stages according to the change of deformation law. Through the analysis of AE characteristic parameters, it is found that increasing the sawtooth angle makes the AE count and AE cumulative count increase. Based on the analysis of the characteristic parameters of RA-AF, the changes of shear cracks and tensile cracks within the whole shearing process were obtained, respectively. In the process of binary medium shearing, the AE peak frequency is in the range of 120–340 kHz. Three acoustic emission parameters that can predict the macroscopic damage of binary media are obtained: the AE b value, the ratio of shear crack signals, and the number of signals with a peak frequency of 220 Hz to 320 Hz.

In slope stability analysis, the limit equilibrium method is usually used to calculate the safety factor of slope based on Mohr-Coulomb criterion. However, Mohr-Coulomb criterion is restricted to the description of rock mass. To overcome its shortcomings, this paper combined Hoek-Brown criterion and limit equilibrium method and proposed an equation for calculating the safety factor of slope with limit equilibrium method in Hoek-Brown criterion through equivalent cohesive strength and the friction angle. Moreover, this paper investigates the impact of Hoek-Brown parameters on the safety factor of slope, which reveals that there is linear relation between equivalent cohesive strength and weakening factor D. However, there are nonlinear relations between equivalent cohesive strength and Geological Strength Index (GSI), the uniaxial compressive strength of intact rock σ ci, and the parameter of intact rock m i. There is nonlinear relation between the friction angle and all Hoek-Brown parameters. With the increase of D, the safety factor of slope F decreases linearly; with the increase of GSI, F increases nonlinearly; when σ ci is relatively small, the relation between F and σ ci is nonlinear, but when σ ci is relatively large, the relation is linear; with the increase of m i, F decreases first and then increases.

Modulation format identification (MFI) is necessary for future elastic optical networks. We propose an MFI scheme based on the amplitude deviation analysis of the received optical communication signal. In our method, for a received optical signal, two values of normalized average amplitude deviation with reference to amplitude of ideal polarization-division multiplexing (PDM) QPSK and 16 quadratic-amplitude modulation (QAM) are computed, respectively, and the ratio of the two values is used to identify the commonly used formats like PDM-QPSK, PDM-8 QAM, PDM-16 QAM, PDM-32 QAM, and PDM-64 QAM.The results demonstrate that the modulation format can be identified with the required optical signalto-noise ratio not higher than the forward error correction (FEC) threshold. The advantage of our method is that it is not sensitive to phase noise, frequency offset, and nonlinearity in optical fiber communication systems. The proposed method needs no training samples or additional hardware, so it is simple and cost-effective. Meanwhile, we also discuss the influence of the residual chromatic dispersion on our proposed scheme.