Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran

Hearing loss (HL) is one of the most common sensory defects affecting more than 466 million individuals worldwide. It is clinically and genetically heterogeneous with over 120 genes causing non-syndromic HL identified to date. Here, we performed exome sequencing (ES) on a cohort of Iranian families with no disease-causing variants in known deafness-associated genes after screening with a targeted gene panel. We identified likely causal variants in 20 out of 71 families screened. Fifteen families segregated variants in known deafness-associated genes. Eight families segregated variants in novel candidate genes for HL: DBH, TOP3A, COX18, USP31, TCF19, SCP2, TENM1, and CARMIL1. In the three of these families, intrafamilial locus heterogeneity was observed with variants in both known and novel candidate genes. In aggregate, we were able to identify the underlying genetic cause of HL in nearly 30 of our study cohort using ES. This study corroborates the observation that high-throughput DNA sequencing in populations with high rates of consanguineous marriages represents a more appropriate strategy to elucidate the genetic etiology of heterogeneous conditions such as HL. © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Lt

Optimal sensor placement for parameter estimation and virtual sensing of strains on an offshore wind turbine considering sensor installation cost

This paper proposes an optimal sensor placement (OSP) framework for parameter estimation, virtual sensing, and condition monitoring using information theory. The framework uses a Bayesian OSP method combined with modal expansion to minimize the information entropy about quantities of interest (QoI), such as strain time histories at critical locations of the structure, without the knowledge of input excitation. The proposed optimization framework also accounts for variations in sensor installation cost at different locations on the monitored structure. The framework is evaluated numerically using a realistic model of an offshore wind turbine on a jacket support structure under installation cost assumptions and considering information entropy of the QoI. The QoI in this numerical study are considered to be the strain time history at one or more locations on the support structure in one problem and the parameters of the structure in the other. A correlation length is considered to account for the spatial correlation of data between adjacent sensors. Effects of the correlation length and input loads on the OSP results for parameter estimation are studied. The considered structural parameters for estimation in this study include (1) modulus of elasticity of tower elements (tower stiffness), (2) modulus of elasticity of jacket elements (jacket stiffness), and (3) vertical foundation spring (soil stiffness). The effect of a subjective weight between the information entropy and sensor configuration cost on the OSP results is also investigated. Different optimal designs are achieved for different weight factors, and the Pareto solutions for OSP are presented. It is found that the OSP framework is an effective tool for decision-makers considering the cost of instrumentation. The presented Pareto optimal solutions can give insight into the value of OSP given a limited budget. © 2021 Elsevier Lt

Capacity enhancement with relay station placement in wireless cooperative networks

To satisfy the stringent requirement of capacity enhancement in wireless networks, cooperative relaying is envisioned as one of the most effective solutions. In this paper, we focus on the problem of capacity enhancement by way of Relay Stations (RSs) placement, which is a critical task of network planning and deployment to achieve an efficient and scalable network design. To fully exploit the performance benefits of cooperative relaying, we develop an optimization framework to maximize the capacity as well as meet the minimal traffic demand for each Subscriber Station (SS). The problem of joint RS placement and bandwidth allocation is formulated into a mixed integer nonlinear program and solved through a heuristic approach based on genetic algorithm (GA). Moreover, an upper bound on the capacity is derived to assist the estimation of system performance given a network configuration. Numerical results are presented to demonstrate the effectiveness of the solution approach and the performance benefits due to RS placement and optimal bandwidth allocation through cooperative relaying. © 2009 IEEE.link_to_subscribed_fulltex

Fabrication of alginate modified brushite cement impregnated with antibiotic: Mechanical, thermal, and biological characterizations

Treatment of postsurgical infections, associated with orthopedic surgeries, has been a major concern for orthopedics. Several strategies including systematic and local administration of antibiotics have been proposed to this regard. The present work focused on fabricating alginate (Alg) modified brushite (Bru) cements, which could address osteogeneration and local antibiotic demands. To find the proper method of drug incorporation, Gentamicin sulfate (Gen) was loaded into the samples in the form of solution or powder. Several characterization tests including compression test, morphology, cytotoxicity, and cell adhesion assays were carried out to determine the proper concentration of Alg as a modifier of the Bru cement. The results indicated that addition of 1 wt% Alg led to superior mechanical and biological properties of the cement. Moreover, Alg addition changed the morphology of the cement from plate and needle-like structures to petal-like structure. Fourier transform infrared spectroscopy results confirmed the successful loading of Gen on the cements, specifically when Gen solution was used, and X-Ray Diffractometer result indicated that Gen caused a decrease in crystalline size. Furthermore, thermal analysis revealed that Gen-loaded sample had more stable structure as the transformation temperature slightly shifted to a higher one. The stability study confirmed the chemical stability and adequate mechanical performance of the cements within 1 month of soaking time. Finally, the addition of Alg has a positive impact on the release behavior at low concentration of Gen solution so that 20% decrease within 2 weeks of release experiment was remarkably detected