GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

Background: Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups. Methods: In order to understand the spectrum and frequency of GJB2 mutations in the Chinese population, the coding region of the GJB2 gene from 2063 unrelated patients with NSHI was PCR amplified and sequenced. Results: A total of 23 pathogenic mutations were identified. Among them, five (p.W3X, c.99delT, c.155_c.158delTCTG, c.512_c.513insAACG, and p.Y152X) are novel. Three hundred and seven patients carry two confirmed pathogenic mutations, including 178 homozygotes and 129 compound heterozygotes. One hundred twenty five patients carry only one mutant allele. Thus, GJB2 mutations account for 17.9% of the mutant alleles in 2063 NSHI patients. Overall, 92.6% (684/739) of the pathogenic mutations are frame-shift truncation or nonsense mutations. The four prevalent mutations; c.235delC, c.299_c.300delAT, c.176_c.191del16, and c.35delG, account for 88.0% of all mutantalleles identified. The frequency of GJB2 mutations (alleles) varies from 4% to 30.4% among different regions of China. It also varies among different sub-ethnic groups. Conclusion: In some regions of China, testing of the three most common mutations can identify at least one GJB2 mutant allele in all patients. In other regions such as Tibet, the three most common mutations account for only 16% the GJB2 mutant alleles. Thus, in this region, sequencing of GJB2 would be recommended. In addition, the etiology of more than 80% of the mutant alleles for NSHI in China remains to be identified. Analysis of other NSHI related genes will be necessary

a flexible negotiation model for an agent-based software process modelling

Our Agent-based Software Process Modelling (ASPM) approach describes a software process as a set of cooperative agents. Negotiation is the way in which the agents construct their cooperative relations, and thus the software process. Currently, most negotiation models use a fixed negotiation protocol and fixed strategies. In order to achieve the flexibility that the negotiation of the agents in ASPM requires, we propose a negotiation model NM-PA. NM-PA mainly includes a generic negotiation protocol and some rules, which possibly change in different negotiation processes. By changing the rules, the model can support multi-protocols and multi-decision-making strategies at a lower cost

Study on W-band sheet-beam traveling-wave tube based on flat-roofed sine waveguide

A W-band sheet electron beam (SEB) traveling-wave tube (TWT) based on flat-roofed sine waveguide slow-wave structure (FRSWG-SWS) is proposed. The sine wave of the metal grating is replaced by a flat-roofed sine wave around the electron beam tunnel. The slow-wave characteristics including the dispersion properties and interaction impedance have been investigated by using the eigenmode solver in the 3-D electromagnetic simulation software Ansoft HFSS. Through calculations, the FRSWG SWS possesses the larger average interaction impedance than the conventional sine waveguide (SWG) SWS in the frequency range of 86-110 GHz. The beam-wave interaction was studied and particle-in-cell simulation results show that the SEB TWT can produce output power over 120 W within the bandwidth ranging from 90 to 100 GHz, and the maximum output power is 226 W at typical frequency 94 GHz, corresponding electron efficiency of 5.89%

In Situ Characterization of 17-4PH Stainless Steel by Small-Angle Neutron Scattering

17-4PH martensitic steel is usually used as valve stems in nuclear power plants and it suffers from thermal aging embrittlement due to long-time service in a high-temperature and high-pressure environment. Here, we characterized the evolution of microstructures at the nano-scale in 17-4PH steel by in situ small-angle neutron scattering (SANS) with a thermo-mechanically coupled loading device. The device could set different temperatures and tensile so that an in situ SANS experiment could dynamically characterize the process of nanoscale structural changes. The results showed that with increasing thermal aging time, the ε-Cu phase precipitates and grows as the temperature is 475 °C and 590 °C, and the ε-Cu phase is spherical at 475 °C but became elongated cylinders at 590 °C. Moreover, the loading stress could aid in the growth of the ε-Cu phase at 475 °C