• Journal of Genetic Medicine
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• v.19 no.2
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• pp.76-84
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• 2022

Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility of WES prospectively in undiagnosed genetic diseases. Materials and Methods: WES tests were performed on 110 patients (age range, 0-28 years) with suspected rare genetic diseases. WES tests were performed at a single reference laboratory and the variants reported were reviewed by clinical geneticists, pediatricians, neurologists, and laboratory physicians. Results: The patients' symptoms varied with abnormalities in the head or neck, including facial dysmorphism, being the most common, identified in 85.4% of patients, followed by abnormalities in the nervous system (83.6%). The average number of systems manifesting phenotypic abnormalities per patient was 3.9±1.7. The age at presentation was 2.1±2.7 years old (range, 0-15 years), and the age at WES testing was 6.7±5.3 years (range, 0-28 years). In total, WES test reported 100 pathogenic/likely pathogenic variants or variants of uncertain significance for 79 out of 110 probands (71.8%). Of the 79 patients with positive or inconclusive calls, 55 (50.0%) patients were determined to have good genotype-phenotype correlations after careful review. Further clinical reassessment and family member testing determined 45 (40.9%) patients to have been identified with a molecular diagnosis. Conclusion: This study showed a 40.9% diagnostic yield for WES test for a heterogeneous patient cohort with suspected rare genetic diseases. WES could be the feasible genetic test modality to overcome the diversity and complexity of rare disease diagnostics.

• Geomechanics and Engineering
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• v.31 no.1
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• pp.113-127
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• 2022

The undrained shear strength of soil is considered one of the engineering parameters of utmost significance in geotechnical design methods. In-situ experiments like cone penetration tests (CPT) have been used in the last several years to estimate the undrained shear strength depending on the characteristics of the soil. Nevertheless, the majority of these techniques rely on correlation presumptions, which may lead to uneven accuracy. This research's general aim is to extend a new united soft computing model, which is a combination of random forest (RF) with grasshopper optimization algorithm (GOA) to the pile set-up parameters' better approximation from CPT, based on two different types of data as inputs. Data type 1 contains pile parameters, and data type 2 consists of soil properties. The contribution of this article is that hybrid GOA - RF for the first time, was suggested to forecast the pile set-up parameter from CPT. In order to do this, CPT data and related bore log data were gathered from 70 various locations across Louisiana. With an R² greater than 0.9098, which denotes the permissible relationship between measured and anticipated values, the results demonstrated that both models perform well in forecasting the set-up parameter. It is comprehensible that, in the training and testing step, the model with data type 2 has finer capability than the model using data type 1, with R² and RMSE are 0.9272 and 0.0305 for the training step and 0.9182 and 0.0415 for the testing step. All in all, the models' results depict that the A parameter could be forecasted with adequate precision from the CPT data with the usage of hybrid GOA - RF models. However, the RF model with soil features as input parameters results in a finer commentary of pile set-up parameters.

• Restorative Dentistry and Endodontics
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• v.47 no.4
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• pp.36.1-36.17
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• 2022

Objectives: This study aimed to evaluate the effect of aging on the marginal quality of glass hybrid (GH) material used to elevate dentin gingival margins, and to analyze the consistency of the results obtained by 3 in vitro methods. Materials and Methods: Ten teeth received compound class II cavities with subgingival margins. The dentin gingival margins were elevated with GH, followed by resin composite. The GH/gingival dentin interfaces were examined through digital microscopy, scanning electron microscopy (SEM) using resin replicas, and according to the World Dental Federation (FDI) criteria. After initial evaluations, all teeth were subjected to 10,000 thermal cycles, followed by repeating the same marginal evaluations and energy dispersive spectroscopy (EDS) analysis for the interfacial zone of 2 specimens. Marginal quality was expressed as the percentage of continuous margin at ×200 for microscopic techniques and as the frequency of each score for FDI ranking. Data were analyzed using the paired sample t-test, Wilcoxon signed-rank test, and Pearson and Spearmen correlation coefficients. Results: None of the testing techniques proved the significance of the aging factor. Moderate and strong significant correlations were found between the testing techniques. The EDS results suggested the presence of an ion-exchange layer along the GH/gingival dentin interface of aged specimens. Conclusions: The marginal quality of the GH/dentin gingival interface defied aging by thermocycling. The replica SEM and FDI ranking results had stronger correlations with each other than either showed with the digital microscopy results.

• Journal of Veterinary Science
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• v.25 no.1
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• pp.2.1-2.14
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• 2024

Background: Sufficient surgical resection is necessary for effective tumor control, but is usually limited for vertebral tumors, especially in the cervical spine in small animal neurosurgery. Objective: To evaluate the primary stability and safety of customized three-dimensional (3D)-printed implants for cervical spine reconstruction after total vertebrectomy. Methods: Customized guides and implants were designed based on computed tomography (CT) imaging of five beagle cadavers and were 3D-printed. They were used to reconstruct C5 after total vertebrectomy. Postoperative CT images were obtained to evaluate the safety and accuracy of screw positioning. After harvesting 10 vertebral specimens (C3-C7) from intact (group A) and implanted spines (group B), implant stability was analyzed using a 4-point bending test comparing with groups A and C (reconstituted with plate and pins/polymethylmethacrylate after testing in Group A). Results: All customized implants were applied without gross neurovascular damage. In addition, 90% of the screws were in a safe area, with 7.5% in grade 1 (< 1.3 mm) and 2.5% in grade 2 (> 1.3 mm). The mean entry point and angular deviations were 0.81 ± 0.43 mm and 6.50 ± 5.11°, respectively. Groups B and C significantly decreased the range of motion (ROM) in C3-C7 compared with intact spines (p = 0.033, and 0.018). Both groups reduced overall ROM and neutral zone in C4-C6, but only group B showed significance (p = 0.005, and 0.027). Conclusion: Customized 3D-printed implants could safely and accurately replace a cervical vertebra in dog cadavers while providing primary stability.

• Journal of the Korean Wood Science and Technology
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• v.52 no.2
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• pp.157-174
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• 2024

This study investigates the influence of varying concentrations of boric acid (BA) preservative on the physical and mechanical properties of light red meranti (LRM) found in Sarawak. LRM or Shorea leprosula samples were treated with various concentrations of BA via the dip diffusion method using American Society for Testing and Materials (ASTM) standards. The physical property, particularly the retention rate and mechanical properties, bending strength, modulus of elasticity (MOE), tensile and compression strength parallel to grain of impregnated and control samples were tested to determine the effects of BA preservative. The retention rate was found to increase with increasing BA concentration and higher surface area to volume ratio. The mechanical properties in terms of the MOE and tensile strength parallel to grain were found to be greater than those of the control samples, whereas the bending strength and tensile strength parallel to grain were lower. Amongst the results, only the retention rate and MOE showed significant interaction effects at 5% level of significance between all factors tested (samples size and BA concentration for retention rate and BA concentration for MOE).

• Journal of Korean Society of Transportation
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• v.26 no.4
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• pp.185-194
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• 2008

When forecasting demand for a new road, a select link analysis is usually used to understand the OD pairs that send trips along paths that use the selected link (i.e., the new road). These OD pairs and their associated volumes are listed in a select link analysis. However, there is no research about other methods to obtain these results, so experts are almost always dependent on select link analysis results to obtain these results. The purpose of this study is to propose a model with a different approach from select link analysis to obtain the previously mentioned results. Time and spatial characteristics of networks are used in this new approach. Select link analysis results are used as a comparison index for the results by the proposed model. Also, two case studies (interzonal trips and intracity trips) are performed to validate the significance of the model. Consequently, a correlation coefficient between the results by the proposed model and the comparison index shows high significance: 0.82.

• Journal of Korea Society of Industrial Information Systems
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• v.23 no.6
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• pp.113-123
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• 2018

There are no studies related to the cryptocurrency exchange, unlike the explosive topic and the active transaction of the cryptourrency around the world. In this study, variables were constructed based on the previous researches to examine the effects of e-service qualities(information quality, transaction quality, design quality, safety quality), satisfaction and continuance intention of cryptocurrency exchange. The samples consist of 180 survey data drawn from the users of cryptocurrency exchange. The collected data were analyzed by SPSS 24.0 and AMOS 21.0. According to results of the reliability and validity test, all were found reliable, and all items were included. As a result of hypothesis testing through path analysis, First, the e-service qualities (information quality, transaction quality, design quality, safety quality) of the cryptocurrency exchange showed positive effects on satisfaction at the significance level of 1% and 5%. Second, e-service qualities (information quality, transaction quality, design quality, safety quality) of the cryptocurrency exchange were found to have positive effects on continuance intention at the significance level of 1% and 5%. Third, the satisfaction of the cryptocurrency exchange has a positive effect on continuance intention at 1% level of significance.

• Smart Structures and Systems
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• v.19 no.2
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• pp.195-202
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• 2017

The aim of this paper is to develop a novel method to determine the severity of a damage in a thin plate. This paper presents a novel fault detection and diagnosis approach employing a new electromagnetic acoustic transducer, called EMAT, together with a complex signal processing method. The method consists in the recognition of a fault that exists within the structure, the fault location, i.e. the identification of the geometric position of damage, and the determining the significance of the damage, which indicates the importance or severity of the defect. The main scientific novelties presented in this paper is: to develop of a new type of electromagnetic acoustic transducer; to incorporate wavelet transforms for signal representation enhancements; to investigate multi-parametric analysis for noise identification and defect classification; to study attenuation curves properties for defect localization improvement; flaw sizing and location algorithm development.

• The Korean Journal of Applied Statistics
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• v.31 no.4
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• pp.475-484
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• 2018

Gamma generalized linear models are useful for non-negative and skewed responses. However, these models have received less attention than Poisson and binomial generalized linear models. In particular, hypothesis testing for the significance of regression coefficients has not been thoroughly studied. In this paper we assess the performance of various test statistics for gamma generalized linear models based on numerical studies. Our results show that the likelihood ratio test and F-type test are generally recommended and that the partial deviance test should be avoided in practice.

• The Korean Journal of Applied Statistics
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• v.23 no.4
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• pp.705-713
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• 2010

Predicting survival from microarray data is not easy due to the problem of high dimensionality of data and the existence of censored observations. Also the limitation of individual gene analysis causes the shift of focus to the level of gene sets with functionally related genes. For developing a survival prediction model based on pathway information, the methods for selecting a supergene using principal component analysis and testing its significance for each pathway are discussed. Besides, the performance of gene filtering is compared.