Mutation Analysis of the ATP7B Gene in 43 Vietnamese Wilson’s Disease Patients

Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of ATP7B were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment.

Effective Dose and Size Specific Dose Estimation with and without Tube Current Modulation for Thoracic Computed Tomography Examinations: A Phantom Study

The purpose of this study is to reduce radiation dose for chest CT examination by including Tube Current Modulation (TCM) to a standard CT protocol. A scan of an anthropomorphic male Alderson phantom was performed on a 128-slice scanner. The estimation of effective dose (ED) in both scans with and without mAs modulation was done via multiplication of Dose Length Product (DLP) to a conversion factor. Results were compared to those measured with a CT-Expo software. The size specific dose estimation (SSDE) values were obtained by multiplication of the volume CT dose index (CTDIvol) with a conversion size factor related to the phantom’s effective diameter. Objective assessment of image quality was performed with Signal to Noise Ratio (SNR) measurements in phantom. SPSS software was used for data analysis. Results showed including CARE Dose 4D; ED was lowered by 48.35% and 51.51% using DLP and CT-expo, respectively. In addition, ED ranges between 7.01 mSv and 6.6 mSv in case of standard protocol, while it ranges between 3.62 mSv and 3.2 mSv with TCM. Similar results are found for SSDE; dose was higher without TCM of 16.25 mGy and was lower by 48.8% including TCM. The SNR values calculated were significantly different (p=0.03

Numerical Analysis and Design of Dielectric to Plasmonic Waveguides Couplers

In this work, efficient directional coupler composed of dielectric waveguides and metallic film has been analyzed in details by simulations using finite element method (FEM). The structure consists of a step-index fiber with dielectric core, silica cladding, and a metal nanowire parallel to the core. The results show that an efficient conversion of optical dielectric modes to long range plasmonic is possible. Low insertion losses in conjunction with short coupling length and a broadband operation can be achieved under certain conditions. This kind of couplers has potential applications for the design of photonic integrated circuits for signal routing between dielectric/plasmonic waveguides, sensing, lithography, and optical storage systems. A high efficient focusing of light in a very small region can be obtained.

Nonlinear Dynamic Analysis of Base-Isolated Structures Using a Mixed Integration Method: Stability Aspects and Computational Efficiency

In order to reduce numerical computations in the nonlinear dynamic analysis of seismically base-isolated structures, a Mixed Explicit-Implicit time integration Method (MEIM) has been proposed. Adopting the explicit conditionally stable central difference method to compute the nonlinear response of the base isolation system, and the implicit unconditionally stable Newmark’s constant average acceleration method to determine the superstructure linear response, the proposed MEIM, which is conditionally stable due to the use of the central difference method, allows to avoid the iterative procedure generally required by conventional monolithic solution approaches within each time step of the analysis. The main aim of this paper is to investigate the stability and computational efficiency of the MEIM when employed to perform the nonlinear time history analysis of base-isolated structures with sliding bearings. Indeed, in this case, the critical time step could become smaller than the one used to define accurately the earthquake excitation due to the very high initial stiffness values of such devices. The numerical results obtained from nonlinear dynamic analyses of a base-isolated structure with a friction pendulum bearing system, performed by using the proposed MEIM, are compared to those obtained adopting a conventional monolithic solution approach, i.e. the implicit unconditionally stable Newmark’s constant acceleration method employed in conjunction with the iterative pseudo-force procedure. According to the numerical results, in the presented numerical application, the MEIM does not have stability problems being the critical time step larger than the ground acceleration one despite of the high initial stiffness of the friction pendulum bearings. In addition, compared to the conventional monolithic solution approach, the proposed algorithm preserves its computational efficiency even when it is adopted to perform the nonlinear dynamic analysis using a smaller time step.

An Advanced Exponential Model for Seismic Isolators Having Hardening or Softening Behavior at Large Displacements

In this paper, an advanced Nonlinear Exponential Model (NEM), able to simulate the uniaxial dynamic behavior of seismic isolators having a continuously decreasing tangent stiffness with increasing displacement in the relatively large displacements range and a hardening or softening behavior at large displacements, is presented. The mathematical model is validated by comparing the experimental force-displacement hysteresis loops obtained during cyclic tests, conducted on a helical wire rope isolator and a recycled rubber-fiber reinforced bearing, with those predicted analytically. Good agreement between the experimental and simulated results shows that the proposed model can be an effective numerical tool to predict the force-displacement relationship of seismic isolation devices within the large displacements range. Compared to the widely used Bouc-Wen model, unable to simulate the response of seismic isolators at large displacements, the proposed one allows to avoid the numerical solution of a first order nonlinear ordinary differential equation for each time step of a nonlinear time history analysis, thus reducing the computation effort. Furthermore, the proposed model can simulate the smooth transition of the hysteresis loops from small to large displacements by adopting only one set of five parameters determined from the experimental hysteresis loops having the largest amplitude.

Simulation of Dynamic Behavior of Seismic Isolators Using a Parallel Elasto-Plastic Model

In this paper, a one-dimensional (1d) Parallel Elasto- Plastic Model (PEPM), able to simulate the uniaxial dynamic behavior of seismic isolators having a continuously decreasing tangent stiffness with increasing displacement, is presented. The parallel modeling concept is applied to discretize the continuously decreasing tangent stiffness function, thus allowing to simulate the dynamic behavior of seismic isolation bearings by putting linear elastic and nonlinear elastic-perfectly plastic elements in parallel. The mathematical model has been validated by comparing the experimental force-displacement hysteresis loops, obtained testing a helical wire rope isolator and a recycled rubber-fiber reinforced bearing, with those predicted numerically. Good agreement between the simulated and experimental results shows that the proposed model can be an effective numerical tool to predict the forcedisplacement relationship of seismic isolators within relatively large displacements. Compared to the widely used Bouc-Wen model, the proposed one allows to avoid the numerical solution of a first order ordinary nonlinear differential equation for each time step of a nonlinear time history analysis, thus reducing the computation effort, and requires the evaluation of only three model parameters from experimental tests, namely the initial tangent stiffness, the asymptotic tangent stiffness, and a parameter defining the transition from the initial to the asymptotic tangent stiffness.

Nonlinear Dynamic Analysis of Base-Isolated Structures Using a Partitioned Solution Approach and an Exponential Model

The solution of the nonlinear dynamic equilibrium equations of base-isolated structures adopting a conventional monolithic solution approach, i.e. an implicit single-step time integration method employed with an iteration procedure, and the use of existing nonlinear analytical models, such as differential equation models, to simulate the dynamic behavior of seismic isolators can require a significant computational effort. In order to reduce numerical computations, a partitioned solution method and a one dimensional nonlinear analytical model are presented in this paper. A partitioned solution approach can be easily applied to base-isolated structures in which the base isolation system is much more flexible than the superstructure. Thus, in this work, the explicit conditionally stable central difference method is used to evaluate the base isolation system nonlinear response and the implicit unconditionally stable Newmark’s constant average acceleration method is adopted to predict the superstructure linear response with the benefit in avoiding iterations in each time step of a nonlinear dynamic analysis. The proposed mathematical model is able to simulate the dynamic behavior of seismic isolators without requiring the solution of a nonlinear differential equation, as in the case of widely used differential equation model. The proposed mixed explicit-implicit time integration method and nonlinear exponential model are adopted to analyze a three dimensional seismically isolated structure with a lead rubber bearing system subjected to earthquake excitation. The numerical results show the good accuracy and the significant computational efficiency of the proposed solution approach and analytical model compared to the conventional solution method and mathematical model adopted in this work. Furthermore, the low stiffness value of the base isolation system with lead rubber bearings allows to have a critical time step considerably larger than the imposed ground acceleration time step, thus avoiding stability problems in the proposed mixed method.

An Adaptive Dimensionality Reduction Approach for Hyperspectral Imagery Semantic Interpretation

With the development of HyperSpectral Imagery (HSI) technology, the spectral resolution of HSI became denser, which resulted in large number of spectral bands, high correlation between neighboring, and high data redundancy. However, the semantic interpretation is a challenging task for HSI analysis due to the high dimensionality and the high correlation of the different spectral bands. In fact, this work presents a dimensionality reduction approach that allows to overcome the different issues improving the semantic interpretation of HSI. Therefore, in order to preserve the spatial information, the Tensor Locality Preserving Projection (TLPP) has been applied to transform the original HSI. In the second step, knowledge has been extracted based on the adjacency graph to describe the different pixels. Based on the transformation matrix using TLPP, a weighted matrix has been constructed to rank the different spectral bands based on their contribution score. Thus, the relevant bands have been adaptively selected based on the weighted matrix. The performance of the presented approach has been validated by implementing several experiments, and the obtained results demonstrate the efficiency of this approach compared to various existing dimensionality reduction techniques. Also, according to the experimental results, we can conclude that this approach can adaptively select the relevant spectral improving the semantic interpretation of HSI.

The Role of the Internal Audit Unit in Detecting and Preventing Fraud at Public Universities in West Java, Indonesia

This study aims to identify the extent of the role of the Satuan Pengawas Intern (Internal Audit Unit) in detecting and preventing fraud in public universities in West Java under the Ministry of Research, Technology and Higher Education. The research method applied was a qualitative case study approach, while the unit of analysis for this study is the Internal Audit Unit at each public university. Results of this study indicate that the Internal Audit Unit is able to detect and prevent fraud within a public university environment by means of red flags to mark accounting anomalies. These stem from inaccurate budget planning that prompts inappropriate use of funds, exacerbated by late disbursements of funds, which potentially lead to fictitious transactions, and discrepancies in recording state-owned assets into a state property management system (SIMAK BMN), which, if not conducted properly, potentially causes loss to the state.

Detecting Tomato Flowers in Greenhouses Using Computer Vision

This paper presents an image analysis algorithm to detect and count yellow tomato flowers in a greenhouse with uneven illumination conditions, complex growth conditions and different flower sizes. The algorithm is designed to be employed on a drone that flies in greenhouses to accomplish several tasks such as pollination and yield estimation. Detecting the flowers can provide useful information for the farmer, such as the number of flowers in a row, and the number of flowers that were pollinated since the last visit to the row. The developed algorithm is designed to handle the real world difficulties in a greenhouse which include varying lighting conditions, shadowing, and occlusion, while considering the computational limitations of the simple processor in the drone. The algorithm identifies flowers using an adaptive global threshold, segmentation over the HSV color space, and morphological cues. The adaptive threshold divides the images into darker and lighter images. Then, segmentation on the hue, saturation and volume is performed accordingly, and classification is done according to size and location of the flowers. 1069 images of greenhouse tomato flowers were acquired in a commercial greenhouse in Israel, using two different RGB Cameras – an LG G4 smartphone and a Canon PowerShot A590. The images were acquired from multiple angles and distances and were sampled manually at various periods along the day to obtain varying lighting conditions. Ground truth was created by manually tagging approximately 25,000 individual flowers in the images. Sensitivity analyses on the acquisition angle of the images, periods throughout the day, different cameras and thresholding types were performed. Precision, recall and their derived F1 score were calculated. Results indicate better performance for the view angle facing the flowers than any other angle. Acquiring images in the afternoon resulted with the best precision and recall results. Applying a global adaptive threshold improved the median F1 score by 3%. Results showed no difference between the two cameras used. Using hue values of 0.12-0.18 in the segmentation process provided the best results in precision and recall, and the best F1 score. The precision and recall average for all the images when using these values was 74% and 75% respectively with an F1 score of 0.73. Further analysis showed a 5% increase in precision and recall when analyzing images acquired in the afternoon and from the front viewpoint.

An Approach for Vocal Register Recognition Based on Spectral Analysis of Singing

Recognizing and controlling vocal registers during singing is a difficult task for beginner vocalist. It requires among others identifying which part of natural resonators is being used when a sound propagates through the body. Thus, an application has been designed allowing for sound recording, automatic vocal register recognition (VRR), and a graphical user interface providing real-time visualization of the signal and recognition results. Six spectral features are determined for each time frame and passed to the support vector machine classifier yielding a binary decision on the head or chest register assignment of the segment. The classification training and testing data have been recorded by ten professional female singers (soprano, aged 19-29) performing sounds for both chest and head register. The classification accuracy exceeded 93% in each of various validation schemes. Apart from a hard two-class clustering, the support vector classifier returns also information on the distance between particular feature vector and the discrimination hyperplane in a feature space. Such an information reflects the level of certainty of the vocal register classification in a fuzzy way. Thus, the designed recognition and training application is able to assess and visualize the continuous trend in singing in a user-friendly graphical mode providing an easy way to control the vocal emission.

Designing for Sustainable Public Housing from Property Management and Financial Feasibility Perspectives

Many public housing properties developed by local governments in Taiwan in the 1980s have deteriorated severely as these rental apartment buildings aged. The lack of building maintainability considerations during project design phase as well as insufficient maintenance funds have made it difficult and costly for local governments to maintain and keep public housing properties in good shape. In order to assist the local governments in achieving and delivering sustainable public housing, this paper intends to present a developed design evaluation method to be used to evaluate the presented design schemes from property management and financial feasibility perspectives during project design phase of public housing projects. The design evaluation results, i.e. the property management and financial implications of presented design schemes that could occur later during the building operation and maintenance phase, will be reported to the client (the government) and design schemes revised consequently. It is proposed that the design evaluation be performed from two main perspectives: (1) Operation and property management perspective: Three criteria such as spatial appropriateness, people and vehicle circulation and control, property management working spaces are used to evaluate the ‘operation and PM effectiveness’ of a design scheme. (2) Financial feasibility perspective: Four types of financial analyses are performed to assess the long term financial feasibility of a presented design scheme, such as operational and rental income analysis, management fund analysis, regular operational and property management service expense analysis, capital expense analysis. The ongoing Chung-Li Public Housing Project developed by the Taoyuan City Government will be used as a case to demonstrate how the presented design evaluation method is implemented. The results of property management assessment as well as the annual operational and capital expenses of a proposed design scheme are presented.

Applicability of Overhangs for Energy Saving in Existing High-Rise Housing in Different Climates

Upgrading the thermal performance of building envelope of existing residential buildings is an effective way to reduce heat gain or heat loss. Overhang device is a common solution for building envelope improvement as it can cut down solar heat gain and thereby can reduce the energy used for space cooling in summer time. Despite that, overhang can increase the demand for indoor heating in winter due to its function of lowering the solar heat gain. Obviously, overhang has different impacts on energy use in different climatic zones which have different energy demand. To evaluate the impact of overhang device on building energy performance under different climates of China, an energy analysis model is built up in a computer-based simulation program known as DesignBuilder based on the data of a typical high-rise residential building. The energy simulation results show that single overhang is able to cut down around 5% of the energy consumption of the case building in the stand-alone situation or about 2% when the building is surrounded by other buildings in regions which predominantly rely on space cooling though it has no contribution to energy reduction in cold region. In regions with cold summer and cold winter, adding overhang over windows can cut down around 4% and 1.8% energy use with and without adjoining buildings, respectively. The results indicate that overhang might not an effective shading device to reduce the energy consumption in the mixed climate or cold regions.

Privacy-Preserving Location Sharing System with Client/Server Architecture in Mobile Online Social Network

Location sharing is a fundamental service in mobile Online Social Networks (mOSNs), which raises significant privacy concerns in recent years. Now, most location-based service applications adopt client/server architecture. In this paper, a location sharing system, named CSLocShare, is presented to provide flexible privacy-preserving location sharing with client/server architecture in mOSNs. CSLocShare enables location sharing between both trusted social friends and untrusted strangers without the third-party server. In CSLocShare, Location-Storing Social Network Server (LSSNS) provides location-based services but do not know the users’ real locations. The thorough analysis indicates that the users’ location privacy is protected. Meanwhile, the storage and the communication cost are saved. CSLocShare is more suitable and effective in reality.

Selection of Rayleigh Damping Coefficients for Seismic Response Analysis of Soil Layers

One good analysis method in seismic response analysis is direct time integration, which widely adopts Rayleigh damping. An approach is presented for selection of Rayleigh damping coefficients to be used in seismic analyses to produce a response that is consistent with Modal damping response. In the presented approach, the expression of the error of peak response, acquired through complete quadratic combination method, and Rayleigh damping coefficients was set up and then the coefficients were produced by minimizing the error. Two finite element modes of soil layers, excited by 28 seismic waves, were used to demonstrate the feasibility and validity.

Processing and Economic Analysis of Rain Tree (Samanea saman) Pods for Village Level Hydrous Bioethanol Production

Biofuel is one of the renewable energy sources adapted by the Philippine government in order to lessen the dependency on foreign fuel and to reduce carbon dioxide emissions. Rain tree pods were seen to be a promising source of bioethanol since it contains significant amount of fermentable sugars. The study was conducted to establish the complete procedure in processing rain tree pods for village level hydrous bioethanol production. Production processes were done for village level hydrous bioethanol production from collection, drying, storage, shredding, dilution, extraction, fermentation, and distillation. The feedstock was sundried, and moisture content was determined at a range of 20% to 26% prior to storage. Dilution ratio was 1:1.25 (1 kg of pods = 1.25 L of water) and after extraction process yielded a sugar concentration of 22 0Bx to 24 0Bx. The dilution period was three hours. After three hours of diluting the samples, the juice was extracted using extractor with a capacity of 64.10 L/hour. 150 L of rain tree pods juice was extracted and subjected to fermentation process using a village level anaerobic bioreactor. Fermentation with yeast (Saccharomyces cerevisiae) can fasten up the process, thus producing more ethanol at a shorter period of time; however, without yeast fermentation, it also produces ethanol at lower volume with slower fermentation process. Distillation of 150 L of fermented broth was done for six hours at 85 °C to 95 °C temperature (feedstock) and 74 °C to 95 °C temperature of the column head (vapor state of ethanol). The highest volume of ethanol recovered was established at with yeast fermentation at five-day duration with a value of 14.89 L and lowest actual ethanol content was found at without yeast fermentation at three-day duration having a value of 11.63 L. In general, the results suggested that rain tree pods had a very good potential as feedstock for bioethanol production. Fermentation of rain tree pods juice can be done with yeast and without yeast.

Estimation of Relative Subsidence of Collapsible Soils Using Electromagnetic Measurements

Collapsible soils are weak soils that appear to be stable in their natural state, normally dry condition, but rapidly deform under saturation (wetting), thus generating large and unexpected settlements which often yield disastrous consequences for structures unwittingly built on such deposits. In this study, a prediction model for the relative subsidence of stressed collapsible soils based on dielectric permittivity measurement is presented. Unlike most existing methods for soil subsidence prediction, this model does not require moisture content as an input parameter, thus providing the opportunity to obtain accurate estimation of the relative subsidence of collapsible soils using dielectric measurement only. The prediction model is developed based on an existing relative subsidence prediction model (which is dependent on soil moisture condition) and an advanced theoretical frequency and temperature-dependent electromagnetic mixing equation (which effectively removes the moisture content dependence of the original relative subsidence prediction model). For large scale sub-surface soil exploration purposes, the spatial sub-surface soil dielectric data over wide areas and high depths of weak (collapsible) soil deposits can be obtained using non-destructive high frequency electromagnetic (HF-EM) measurement techniques such as ground penetrating radar (GPR). For laboratory or small scale in-situ measurements, techniques such as an open-ended coaxial line with widely applicable time domain reflectometry (TDR) or vector network analysers (VNAs) are usually employed to obtain the soil dielectric data. By using soil dielectric data obtained from small or large scale non-destructive HF-EM investigations, the new model can effectively predict the relative subsidence of weak soils without the need to extract samples for moisture content measurement. Some of the resulting benefits are the preservation of the undisturbed nature of the soil as well as a reduction in the investigation costs and analysis time in the identification of weak (problematic) soils. The accuracy of prediction of the presented model is assessed by conducting relative subsidence tests on a collapsible soil at various initial soil conditions and a good match between the model prediction and experimental results is obtained.

Precipitation Intensity: Duration Based Threshold Analysis for Initiation of Landslides in Upper Alaknanda Valley

The entire Himalayan range is globally renowned for rainfall-induced landslides. The prime focus of the study is to determine rainfall based threshold for initiation of landslides that can be used as an important component of an early warning system for alerting stake holders. This research deals with temporal dimension of slope failures due to extreme rainfall events along the National Highway-58 from Karanprayag to Badrinath in the Garhwal Himalaya, India. Post processed 3-hourly rainfall intensity data and its corresponding duration from daily rainfall data available from Tropical Rainfall Measuring Mission (TRMM) were used as the prime source of rainfall data. Landslide event records from Border Road Organization (BRO) and some ancillary landslide inventory data for 2013 and 2014 have been used to determine Intensity Duration (ID) based rainfall threshold. The derived governing threshold equation, I= 4.738D-0.025, has been considered for prediction of landslides of the study region. This equation was validated with an accuracy of 70% landslides during August and September 2014. The derived equation was considered for further prediction of landslides of the study region. From the obtained results and validation, it can be inferred that this equation can be used for initiation of landslides in the study area to work as a part of an early warning system. Results can significantly improve with ground based rainfall estimates and better database on landslide records. Thus, the study has demonstrated a very low cost method to get first-hand information on possibility of impending landslide in any region, thereby providing alert and better preparedness for landslide disaster mitigation.

The Contribution of the PCR-Enzymatic Digestion in the Positive Diagnosis of Proximal Spinal Muscular Atrophy in the Moroccan Population

The proximal spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterized by progressive muscle weakness due to the degeneration and loss of anterior motor neurons of the spinal cord. Depending on the age of onset of symptoms and their evolution, four types of SMA, varying in severity, result in a mutations of the SMN gene (survival of Motor neuron). We have analyzed the DNA of 295 patients referred to our genetic counseling; since January 1996 until October 2014; for suspected SMA. The homozygous deletion of exon 7 of the SMN gene was found in 133 patients; of which, 40.6% were born to consanguineous parents. In countries like Morocco, where the frequency of heterozygotes for SMA is high, genetic testing should be offered as first-line and, after careful clinical assessment, especially in newborns and infants with congenital hypotonia unexplained and prognosis compromise. The molecular diagnosis of SMA allows a quick and certainly diagnosis, provide adequate genetic counseling for families at risk and suggest, for couples who want prenatal diagnosis. The analysis of the SMN gene is a perfect example of genetic testing with an excellent cost/benefit ratio that can be of great interest in public health, especially in low-income countries. We emphasize in this work for the benefit of the generalization of molecular diagnosis of SMA by the technique of PCR-enzymatic digestion in other centers in Morocco.

Introduction of the Fluid-Structure Coupling into the Force Analysis Technique

This paper presents a method to take into account the fluid-structure coupling into an inverse method, the Force Analysis Technique (FAT). The FAT method, also called RIFF method (Filtered Windowed Inverse Resolution), allows to identify the force distribution from local vibration field. In order to only identify the external force applied on a structure, it is necessary to quantify the fluid-structure coupling, especially in naval application, where the fluid is heavy. This method can be decomposed in two parts, the first one consists in identifying the fluid-structure coupling and the second one to introduced it in the FAT method to reconstruct the external force. Results of simulations on a plate coupled with a cavity filled with water are presented.