Search results for: LYRM7 gene defect

Authors: Rita Alfattal, Maryam Alfarhan, Adeeb M. Algaith, Buthaina Albash, Reem M. Elshafie, Asma Alshammari, Ahmad Alahmad, Fatima Dashti, Rasha Alsafi, Hind Alsharhan

Abstract:

Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron‐sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it. We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous LYRM 7 variant, c.2T>C, (p.Met1?). Like previously reported individuals, our 4-year-old male proband presented with recurrent metabolic and lactic acidosis, encephalopathy, and myopathy. Further, he has additional, previously unreported features, including an acute stroke like episode with bilateral central blindness and optic neuropathy, recurrent hyperglycemia and hypertension associated with metabolic crisis. However, he has no signs of psychomotor regression. He has been stable clinically with residual left-sided reduced visual acuity and amblyopia, and no more metabolic crises for 2-year-period while on the mitochondrial cocktail. Although the reported brain MRI findings in other affected individuals are homogenous, it is slightly different in our index, revealing evidence of bilateral almost symmetric multifocal periventricular T2 hyperintensities with hyperintensities of the optic nerves, optic chiasm, and corona radiata but with no cavitation or cystic changes. This report describes new clinical and radiological findings of LYRM7-associated disease. The report also summarizes the clinical and molecular data of previously reported individuals describing the full phenotypic spectrum.

Keywords: LYRM7 gene defect, mitochondrial disease, , lactic acidosis, , genetic disorder

Procedia PDF Downloads 42

Authors: Hamad Aljassmi, Sangwon Han

Abstract:

Various solutions for preventing construction defects have been suggested. However, a construction company may have difficulties adopting all these suggestions due to financial and practical constraints. Based on this recognition, this paper aims to identify the most significant defect causes and formulate their defect generation mechanism in order to help a construction company to set priorities of its defect prevention strategies. For this goal, we conducted a questionnaire survey of 106 industry professionals and identified five most significant causes including: (1) organizational culture, (2) time pressure and constraints, (3) workplace quality system, (4) financial constraints upon operational expenses and (5) inadequate employee training or learning opportunities.

Keywords: defect, quality, failure, risk

Procedia PDF Downloads 592

Authors: Melikulov A. A., Toshpulotov Sh. G., Akhmedova M. F., Beshimov A. S., Rakhimov M. K. Zokirov N. K.

Abstract:

Postinfarction ventricular septal defect (PVSD) is a rare but life-threatening complication of acute myocardial infarction. Currently, an alternative direction of minimally invasive treatment of postinfarction ventricular septal defect (PVSD) is being developed - transcatheter closure of the defect using an occluder, but surgical closure of the defect remains the <> correction of post-infarction VSD. Our article presents a case of successful surgical treatment of a patient with a large post-infarction rupture of the interventricular septum (IVS) and post-infarction LV aneurysm under cardiopulmonary bypass and parallel perfusion.

Keywords: echocardiography, myocardial infarction, ventricular septal defect, parallel perfusion

Procedia PDF Downloads 47

Authors: Sunthorn Sittisakuljaroen

Abstract:

The edge waviness in hot rolled steel is a common defect. Variables that effect for such defect include as raw material and machine. These variables are necessary to consider. This research studied the defect of edge waviness for SS 400 of metal sheet manufacture. Defect of metal sheets divided into two groups. The specimens were investigated on chemical composition and mechanical properties to find the difference. The results of investigate showed that not different to a standard significantly. Therefore the roll milled machine for sample need to adjustable rollers for press on metal sheet which was more appropriate to adjustable at both ends.

Keywords: edge waviness, hot rolling steel, metal sheet defect, SS 400, roll leveller

Procedia PDF Downloads 365

Authors: Mostafa Firoozabadi, Alireza Foroughi Nematollahi

Abstract:

Wet mills are one of the most important equipment in the mining industries and any defect occurrence in them can stop the production line and it can make some irrecoverable damages to the system. Electromotors are the significant parts of a mill and their monitoring is a necessary process to prevent unwanted defects. The purpose of this study is to investigate the Electromotor bearing defects, theoretically and practically, using the vibration analysis method. When a defect happens in a bearing, it can be transferred to the other parts of the equipment like inner ring, outer ring, balls, and the bearing cage. The electromotor defects source can be electrical or mechanical. Sometimes, the electrical and mechanical defect frequencies are modulated and the bearing defect detection becomes difficult. In this paper, to detect the electromotor bearing defects, the electrical and mechanical defect frequencies are extracted firstly. Then, by calculating the bearing defect frequencies, and the spectrum and time signal analysis, the bearing defects are detected. In addition, the obtained frequency determines that the bearing level in which the defect has happened and by comparing this level to the standards it determines the bearing remaining lifetime. Finally, the defect length is calculated by theoretical equations to demonstrate that there is no need to replace the bearing. The results of the proposed method, which has been implemented on the wet mills in the Golgohar mining and industrial company in Iran, show that this method is capable of detecting the electromotor bearing defects accurately and on time.

Keywords: bearing defect length, defect frequency, electromotor defects, vibration analysis

Procedia PDF Downloads 470

Authors: Aedah Abd Rahman, Nurdatillah Hasim

Abstract:

Software quality issues require special attention especially in view of the demands of quality software product to meet customer satisfaction. Software development projects in most organisations need proper defect management process in order to produce high quality software product and reduce the number of defects. The research question of this study is how to produce high quality software and reducing the number of defects. Therefore, the objective of this paper is to provide a framework for managing software defects by following defined life cycle processes. The methodology starts by reviewing defects, defect models, best practices and standards. A framework for defect management life cycle is proposed. The major contribution of this study is to define a defect management road map in software development. The adoption of an effective defect management process helps to achieve the ultimate goal of producing high quality software products and contributes towards continuous software process improvement.

Keywords: defects, defect management, life cycle process, software quality

Procedia PDF Downloads 275

Authors: Sangdeok Lee, Sangwon Han, Changtaek Hyun

Abstract:

Construction defects are major components that result in negative impacts on project performance including schedule delays and cost overruns. Since construction defects generally occur when a few associated causes combine, a thorough understanding of defect causality is required in order to more systematically prevent construction defects. To address this issue, this paper uses association rule mining (ARM) to quantify the causality between defect causes, and social network analysis (SNA) to find indirect causality among them. The suggested approach is validated with 350 defect instances from concrete works in 32 projects in Korea. The results show that the interrelationships revealed by the approach reflect the characteristics of the concrete task and the important causes that should be prevented.

Keywords: causality, defect causes, social network analysis, association rule mining

Procedia PDF Downloads 331

Authors: Yu-Chen Hu

Abstract:

Gene editing by CRISPR and gene regulation by microRNA or CRISPR activation have dramatically changed the way to manipulate cellular gene expression and cell fate. In recent years, various gene editing and gene manipulation technologies have been applied to control stem cell differentiation to enhance tissue regeneration. This research will focus on how to develop CRISPR, CRISPR activation (CRISPRa), CRISPR inhibition (CRISPRi), as well as bi-directional CRISPR-AI gene regulation technologies to control cell differentiation and bone regeneration. Moreover, in this study, CRISPR/Cas13d-mediated RNA editng for miRNA editing and bone regeneration will be discussed.

Keywords: gene therapy, bone regeneration, stem cell, CRISPR, gene regulation

Procedia PDF Downloads 51

Authors: Azzeddine Abdelalim, Fatiha Rogti

Abstract:

The degradation phenomenon in polymer solar cells (PCSs) has not been clearly explained yet. In fact, there are many causes that show up and influence these cells in a variety of ways. Also, there has been a growing concern over this degradation in the photovoltaic community. One of the main variables deciding PSCs photovoltaic output is defect states. In this research, devices modeling is carried out to analyze the multiple effects of degradation by applying high defect states (HDS) on ideal PSCs, mainly poly(3-hexylthiophene) (P3HT) absorber layer. Besides, a comparative study is conducted between P3HT and other PSCs by a simulation program called Solar Cell Capacitance Simulator (SCAPS). The adjustments to the defect parameters in several absorber layers explain the effect of HDS on the total output properties of PSCs. The performance parameters for HDS, quantum efficiency, and energy band were therefore examined. This research attempts to explain the degradation process of PSCs and the causes of their low efficiency. It was found that the defects often affect PSCs performance, but defect states have a little effect on output when the defect level is less than 1014cm-3, which gives similar performance values with P3HT cells when these defects is about 1019cm-3. The high defect states can cause up to 11% relative reduction in conversion efficiency of ideal P3HT. In the center of the band gap, defect states become more noxious. This approach is for one of the degradation processes potential of PSCs especially that use fullerene derivative acceptors.

Keywords: degradation, high defect states, polymer solar cells, SCAPS-1D

Procedia PDF Downloads 57

Authors: Fadhl Alakwaa

Abstract:

One of the sustainable goals of the system biology is understanding gene-gene interactions. Hence, gene regulatory networks (GRN) need to be constructed for understanding the disease ontology and to reduce the cost of drug development. To construct gene regulatory from gene expression we need to overcome many challenges such as data denoising and dimensionality. In this paper, we develop an integrated system to reduce data dimension and remove the noise. The generated network from our system was validated via available interaction databases and was compared to previous methods. The result revealed the performance of our proposed method.

Keywords: gene regulatory network, biclustering, denoising, system biology

Procedia PDF Downloads 208

Authors: Rajeev Kumar, Angad Singh Kushwaha, Amritanshu Pandey, S. K. Srivastava

Abstract:

Photonic crystals (PCs) have attracted much attention due to its electromagnetic properties and potential applications. In PCs, there is certain range of wavelength where electromagnetic waves are not allowed to pass are called photonic band gap (PBG). A localized defect mode will appear within PBG, due to change in the interference behavior of light, when we create a defect in the periodic structure. We can also create different types of defect structures by inserting or removing a layer from the periodic layered structure in two and three-dimensional PCs. We can design microcavity, waveguide, and perfect mirror by creating a point defect, line defect, and palanar defect in two and three- dimensional PC structure. One-dimensional and two-dimensional PCs with defects were reported theoretically and experimentally by Smith et al.. in conventional photonic band gap structure. In the present paper, we have presented the defect mode tunability in tilted non-graded photonic crystal (NGPC) and linearly graded photonic crystal (LGPC) using lead sulphide (PbS) and titanium dioxide (TiO2) in the infrared region. A birefringent defect layer is created in NGPC and LGPC using potassium titany phosphate (KTP). With the help of transfer matrix method, the transmission properties of proposed structure is investigated for transverse electric (TE) and transverse magnetic (TM) polarization. NGPC and LGPC without defect layer is also investigated. We have found that a photonic band gap (PBG) arises in the infrared region. An additional defect layer of KTP is created in NGPC and LGPC structure. We have seen that an additional transmission mode appers in PBG region. It is due to the addition of defect layer. We have also seen the effect, linear gradation in thickness, angle of incidence, tilt angle, and thickness of defect layer, on PBG and additional transmission mode. We have observed that the additional transmission mode and PBG can be tuned by changing the above parameters. The proposed structure may be used as channeled filter, optical switches, monochromator, and broadband optical reflector.

Keywords: defect modes, graded photonic crystal, photonic crystal, tilt angle

Procedia PDF Downloads 345

Authors: P. Selyshchev

Abstract:

We consider fluctuations of defects density taking into account their interaction. Stochastic field of displacement generation rate gives random defect distribution. We determinate statistical characteristics (mean and dispersion) of random field of point defect distribution as function of defect generation parameters, temperature and properties of irradiated crystal.

Keywords: irradiation, primary defects, interaction, fluctuations

Procedia PDF Downloads 298

Authors: Restu Misrianti

Abstract:

The amino acid variation of Asn (allele A) at position 631 in Mx gene was specific to positive antiviral to avian viral desease. This research was aimed at identifying polymorphism of Mx gene in duck using molecular technique. Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique was used to select the genotype of AA, AG and GG. There were thirteen duck from Indragiri Hulu regency (Riau Province) used in this experiment. DNA amplification results showed that the Mx gene in duck is found in a 73 bp fragment. Mx gene in duck did not show any polymorphism. The frequency of the resistant allele (AA) was 0%, while the frequency of the susceptible allele (GG) was 100%.

Keywords: duck, Mx gene, PCR, RFLP

Procedia PDF Downloads 294

Authors: Qiang Wang, Hongyang Yu, MingRong Lai, Miao Luo

Abstract:

This paper presents a method for accurately localizing and interacting with known surface defects by overlaying patterns onto real-world surfaces using a projection system. Given the world coordinates of the defects, we project corresponding patterns onto the surfaces, providing an intuitive visualization of the specific defect locations. To enable users to interact with and retrieve more information about individual defects, we implement a gesture recognition system based on a pruned and optimized version of YOLOv6. This lightweight model achieves an accuracy of 82.8% and is suitable for deployment on low-performance devices. Our approach demonstrates the potential for enhancing defect identification, inspection processes, and user interaction in various applications.

Keywords: defect localization, projection mapping, gesture recognition, YOLOv6

Procedia PDF Downloads 51

Authors: Saeid Doaei

Abstract:

The various studies have examined the relationship between FTO gene expression and macronutrients levels. In order to obtain better viewpoint from this interactions, all of the existing studies were reviewed systematically. All published papers have been obtained and reviewed using standard and sensitive keywords from databases such as CINAHL, Embase, PubMed, PsycInfo, and the Cochrane, from 1990 to 2016. The results indicated that all of 6 studies that met the inclusion criteria (from a total of 428 published article) found FTO gene expression changes at short-term follow-ups. Four of six studies found an increased FTO gene expression after calorie restriction, while two of them indicated decreased FTO gene expression. The effect of protein, carbohydrate and fat were separately assessed and suggested by all of six studies. In conclusion, the level of FTO gene expression in hypothalamus is related to macronutrients levels. Future research should evaluate the long-term impact of dietary interventions.

Keywords: obesity, gene expression, FTO, macronutrients

Procedia PDF Downloads 237

Authors: Mona Heydari, Ehsan Motamedian, Seyed Abbas Shojaosadati

Abstract:

Prediction of perturbations after genetic manipulation (especially gene knockout) is one of the important challenges in systems biology. In this paper, a new algorithm is introduced that integrates microarray data into the metabolic model. The algorithm was used to study the change in the cell phenotype after knockout of Gss gene in Escherichia coli BW25113. Algorithm implementation indicated that gene deletion resulted in more activation of the metabolic network. Growth yield was more and less regulating gene were identified for mutant in comparison with the wild-type strain.

Keywords: metabolic network, gene knockout, flux balance analysis, microarray data, integration

Procedia PDF Downloads 552

Authors: Khalid Kaddoura, Ahmed Assad, Tarek Zayed

Abstract:

Sewer pipelines are prone to deterioration over-time. In fact, their deterioration does not follow a fixed downward pattern. This is in fact due to the defects that propagate through their service life. Sewer pipeline defects are categorized into distinct groups. However, the main two groups are the structural and operational defects. By definition, the structural defects influence the structural integrity of the sewer pipelines such as deformation, cracks, fractures, holes, etc. However, the operational defects are the ones that affect the flow of the sewer medium in the pipelines such as: roots, debris, attached deposits, infiltration, etc. Yet, the process for each defect to emerge follows a cause and effect relationship. Deformation, which is the change of the sewer pipeline geometry, is one type of an influencing defect that could be found in many sewer pipelines due to many surrounding factors. This defect could lead to collapse if the percentage exceeds 15%. Therefore, it is essential to predict the deformation percentage before confronting such a situation. Accordingly, this study will predict the percentage of the deformation defect in sewer pipelines adopting the multiple regression analysis. Several factors will be considered in establishing the model, which are expected to influence the defamation defect severity. Besides, this study will construct a time-based curve to understand how the defect would evolve overtime. Thus, this study is expected to be an asset for decision-makers as it will provide informative conclusions about the deformation defect severity. As a result, inspections will be minimized and so the budgets.

Keywords: deformation, prediction, regression analysis, sewer pipelines

Procedia PDF Downloads 155

Authors: Gaokai Liu

Abstract:

Automatic defect detection for nanomaterial images is widely required in industrial scenarios. Deep learning approaches are considered as the most effective solutions for the great majority of image-based tasks. In this paper, an edge guidance network for defect segmentation is proposed. First, the encoder path with multiple convolution and downsampling operations is applied to the acquisition of shared features. Then two decoder paths both are connected to the last convolution layer of the encoder and supervised by the edge and segmentation labels, respectively, to guide the whole training process. Meanwhile, the edge and encoder outputs from the same stage are concatenated to the segmentation corresponding part to further tune the segmentation result. Finally, the effectiveness of the proposed method is verified via the experiments on open nanofibrous datasets.

Keywords: deep learning, defect detection, image segmentation, nanomaterials

Procedia PDF Downloads 113

Authors: Yu-Lin Shen, Ming-Kuen Chang

Abstract:

In addition to a considerable amount of machinery and equipment, intricacies of the transmission pipeline exist in Petrochemical plants. Long term corrosion may lead to pipeline thinning and rupture, causing serious safety concerns. With the advances in non-destructive testing technology, more rapid and long-range ultrasonic detection techniques are often used for pipeline inspection, EMAT without coupling to detect, it is a non-contact ultrasonic, suitable for detecting elevated temperature or roughened e surface of line. In this study, we prepared artificial defects in pipeline for Electromagnetic Acoustic Transducer Testing (EMAT) to survey the relationship between the defect location, sizing and the EMAT signal. It was found that the signal amplitude of EMAT exhibited greater signal attenuation with larger defect depth and length.. In addition, with bigger flat hole diameter, greater amplitude attenuation was obtained. In summary, signal amplitude attenuation of EMAT was affected by the defect depth, defect length and the hole diameter and size.

Keywords: EMAT, artificial defect, NDT, ultrasonic testing

Procedia PDF Downloads 292

Authors: Mahmoud Saleh Mohammed Alkathy

Abstract:

Electricity generated from renewable resources may help the transition to clean energy. A reliable energy storage system is required to use this energy properly. To do this, a high breakdown strength (Eb) and a significant difference between spontaneous polarization (Pmax) and remnant polarization (Pr) are required. To achieve this, the defect dipoles in lead free BaTiO3 ferroelectric ceramics are created using Mg2+ and Ni2+ ions as acceptor co-doping in the Ti site. According to the structural analyses, the co-dopant ions were effectively incorporated into the BTO unit cell. According to the ferroelectric study, the co-doped samples display a double hysteresis loop, stronger polarization, and high breakdown strength. The formation of oxygen vacancies and defect dipoles prevent domains' movement, resulting in hysteresis loop pinching. This results in increased energy storage density and efficiency. The defect dipoles mechanism effect can be considered a fascinating technology that can guide the researcher working on developing energy storage for next-generation applications.

Keywords: microstructure, defect, energy storage, effciency

Procedia PDF Downloads 54

Authors: Yu-Lin Shen, Ming-Kuen Chang

Abstract:

In addition to a considerable amount of machinery and equipment, intricacies of the transmission pipeline exist in Petrochemical plants. Long term corrosion may lead to pipeline thinning and rupture, causing serious safety concerns. With the advances in non-destructive testing technology, more rapid and long-range ultrasonic detection techniques are often used for pipeline inspection, EMAT without coupling to detect, it is a non-contact ultrasonic, suitable for detecting elevated temperature or roughened e surface of line. In this study, we prepared artificial defects in pipeline for Electromagnetic Acoustic Transducer testing (EMAT) to survey the relationship between the defect location, sizing and the EMAT signal. It was found that the signal amplitude of EMAT exhibited greater signal attenuation with larger defect depth and length. In addition, with bigger flat hole diameter, greater amplitude attenuation was obtained. In summary, signal amplitude attenuation of EMAT was affected by the defect depth, defect length and the hole diameter and size.

Keywords: EMAT, artificial defect, NDT, ultrasonic testing

Procedia PDF Downloads 313

Authors: Shaival Dalal, Nilesh Shah, Dinshaw Pardiwala, David Rajan, Satyen Sanghavi, Charul Bhanji

Abstract:

Autologous Chondrocyte Implantation (ACI) is used worldwide since 1998 to treat cartilage defect. GEL based ACI is a new tissue-engineering technique to treat full thickness cartilage defect with fibrin and thrombin as scaffold for chondrocytes. Purpose of this study is to see safety and efficacy of gel based ACI for knee cartilage defect in multiple centres with different surgeons. Gel-based Autologous Chondrocyte Implantation (GACI) has shown effectiveness in treating isolated cartilage defect of knee joint. Long term results are still needed to be studied. This study was followed-up up to two years and showed benefit to patients. All enrolled patients with a mean age of 28.5 years had an average defect size of3 square centimeters, and were grade IV as per ICRS grading. All patients were followed up several times and at several intervals at 6th week, 8th week, 11th week, 17th week, 29th week, 57th week after surgery. The outcomes were measured based on the IKDC (subjective and objective) and MOCART scores.

Keywords: knee, chondrocyte, autologous chondrocyte implantation, fibrin gel based

Procedia PDF Downloads 343

Authors: S. Sadegzadeh, A. Mousavi

Abstract:

Temperature-dependent tunable photonic crystals have attracted widespread interest in recent years. In this research, transmission characteristics of a one-dimensional photonic crystal structure with a single defect have been studied. Here, we assume two different defect layers: InSb as a semiconducting layer and HgBa₂Ca₂Cu₃O₁₀ as a high-temperature superconducting layer. Both the defect layers have temperature-dependent refractive indexes. Two different types of dielectric materials (Si as a high-refractive index dielectric and MgF₂ as a low-refractive index dielectric) are used to construct the asymmetric structures (Si/MgF₂)^NInSb(Si/MgF₂)^N named S.I, and (Si/MgF₂)^NHgBa₂Ca₂Cu₃O₁₀(Si/MgF₂)^N named S.II. It is found that in response to the temperature changes, transmission peaks within the photonic band gap of the S.II structure, in contrast to S.I, show a small wavelength shift. Furthermore, the results show that under the same conditions, S.I structure generates an extra defect mode in the transmission spectra. Besides high efficiency transmission property of S.II structure, it can be concluded that the semiconductor-dielectric photonic crystals are more sensitive to temperature variation than superconductor types.

Keywords: defect modes, photonic crystals, semiconductor, superconductor, transmission

Procedia PDF Downloads 255

Authors: Mohamed A. Alsharif, Peter A. Wallace, Donald M. Hepburn, Chengke Zhou

Abstract:

Worldwide, most PILC MV underground cables in use are approaching the end of their design life; hence, failures are likely to increase. This paper studies the electric field and potential distributions within the PILC insulted cable containing common void-defect. The finite element model of the performance of the belted PILC MV underground cable is presented. The variation of the electric field stress within the cable using the Finite Element Method (FEM) is concentrated. The effects of the void-defect within the insulation are given. Outcomes will lead to deeper understanding of the modeling of Paper Insulated Lead Covered (PILC) and electric field response of belted PILC insulted cable containing void defect.

Keywords: MV PILC cables, finite element model/COMSOL multiphysics, electric field stress, partial discharge degradation

Procedia PDF Downloads 456

Authors: Daniel Aberdam

Abstract:

Haploinsufficiency of PAX6 in humans is the main cause of congenital aniridia, a rare eye disease characterized by reduced visual acuity. Patients have also progressive disorders including cataract, glaucoma and corneal abnormalities making their condition very challenging to manage. Aniridia-related keratopathy (ARK), caused by a combination of factors including limbal stem-cell deficiency, impaired healing response, abnormal differentiation, and infiltration of conjunctival cells onto the corneal surface, affects up to 95% of patients. It usually begins in the first decade of life resulting in recurrent corneal erosions, sub-epithelial fibrosis with corneal decompensation and opacification. Unfortunately, current treatment options for aniridia patients are currently limited. Although animal models partially recapitulate this disease, there is no in vitro cellular model of AKT needed for drug/therapeutic tools screening and validation. We used genome editing (CRISPR/Cas9 technology) to introduce a nonsense mutation found in patients into one allele of the PAX6 gene into limbal stem cells. Resulting mutated clones, expressing half of the amount of PAX6 protein and thus representative of haploinsufficiency were further characterized. Sequencing analysis showed that no off-target mutations were induced. The mutated cells displayed reduced cell proliferation and cell migration but enhanced cell adhesion. Known PAX6 targets expression was also reduced. Remarkably, addition of soluble recombinant PAX6 protein into the culture medium was sufficient to activate endogenous PAX6 gene and, as a consequence, rescue the phenotype. It strongly suggests that our in vitro model recapitulates well the epithelial defect and becomes a powerful tool to identify drugs that could rescue the corneal defect in patients. Furthermore, we demonstrate that the homeotic transcription factor Pax6 is able to be uptake naturally by recipient cells to function into the nucleus.

Keywords: Pax6, crispr/cas9, limbal stem cells, aniridia, gene therapy

Procedia PDF Downloads 176

Authors: Alhadi Bustaman, Soeganda Formalidin, Titin Siswantining

Abstract:

DNA microarray technology is used to analyze thousand gene expression data simultaneously and a very important task for drug development and test, function annotation, and cancer diagnosis. Various clustering methods have been used for analyzing gene expression data. However, when analyzing very large and heterogeneous collections of gene expression data, conventional clustering methods often cannot produce a satisfactory solution. Biclustering algorithm has been used as an alternative approach to identifying structures from gene expression data. In this paper, we introduce a transform technique based on singular value decomposition to identify normalized matrix of gene expression data followed by Mixed-Clustering algorithm and the Lift algorithm, inspired in the node-deletion and node-addition phases proposed by Cheng and Church based on Agglomerative Hierarchical Clustering (AHC). Experimental study on standard datasets demonstrated the effectiveness of the algorithm in gene expression data.

Keywords: agglomerative hierarchical clustering (AHC), biclustering, gene expression data, lymphoma, singular value decomposition (SVD)

Procedia PDF Downloads 248

Authors: Dina Athariah, Desriani Desriani, Bugi Ratno Budiarto, Abinawanto Abinawanto, Dwi Wulandari

Abstract:

Breast cancer is a regulated by many genes. Defect in PIK3CA gene especially at position of exon 9 (E542K and E545K), called hot spot mutation induce early transformation of breast cells. The early detection of breast cancer based on mutation profile of this hot spot region would be hampered by the existence of pseudogene, marked by its substitution mutation at base 1658 (E545A) and deletion at 1659 that have been previously proven in several cancers. To the best of the authors’ knowledge, until recently no studies have been reported about pseudogene phenomenon in breast cancer. Here, we reported PCR optimization to to obtain true exon 9 of PIK3CA gene from its pseudogene hence increasing the validity of data. Material and methods: two genomic DNA with Dev and En code were used in this experiment. Two pairs of primer were design for Standard PCR method. The size of PCR products for each primer is 200bp and 400bp. While other primer was designed for Nested-PCR followed with DNA sequencing method. For Nested-PCR, we optimized the annealing temperature in first and second run of PCR, and the PCR cycle for first run PCR (15x versus 25x). Result: standard PCR using both primer pairs designed is failed to detect the true PIK3CA gene, appearing a substitution mutation at 1658 and deletion at 1659 of PCR product in sequence chromatogram indicated pseudogene. Meanwhile, Nested-PCR with optimum condition (annealing temperature for the first round at 55oC, annealing temperatung for the second round at 60,7oC with 15x PCR cycles) and could detect the true PIK3CA gene. Dev sample were identified as WT while En sample contain one substitution mutation at position 545 of exon 9, indicating amino acid changing from E to K. For the conclusion, pseudogene also exists in breast cancer and the apllication of optimazed Nested-PCR in this study could detect the true exon 9 of PIK3CA gene.

Keywords: breast cancer, exon 9, hotspot mutation, PIK3CA, pseudogene

Procedia PDF Downloads 212

Authors: Yu-Lin Shen, Ming-Kuen Chang

Abstract:

In addition to a considerable amount of machinery and equipment, intricacies of the transmission pipeline exist in Petrochemical plants. Long term corrosion may lead to pipeline thinning and rupture, causing serious safety concerns. With the advances in non-destructive testing technology, more rapid and long-range ultrasonic detection techniques are often used for pipeline inspection, EMAT without coupling to detect, it is a non-contact ultrasonic, suitable for detecting elevated temperature or roughened e surface of line. In this study, we prepared artificial defects in pipeline for Electro Magnetic Acoustic Transducer Testing (EMAT) to survey the relationship between the defect location, sizing and the EMAT signal. It was found that the signal amplitude of EMAT exhibited greater signal attenuation with larger defect depth and length.. In addition, with bigger flat hole diameter, greater amplitude attenuation was obtained. In summary, signal amplitude attenuation of EMAT was affected by the defect depth, defect length and the hole diameter and size.

Keywords: EMAT, NDT, artificial defect, ultrasonic testing

Procedia PDF Downloads 434

Authors: Hazha Hidayat, Shayma Ibrahim

Abstract:

Folate metabolism plays a crucial role in the normal development of the neonatal central nervous system. It is regulated by MTHFR gene polymorphism. Any factors, which will affect this metabolism either by hereditary or gene mutation will lead to many mental disorders. The purpose of this study was to investigate whether MTHFR gene mutation contributes to the development of mental retardation and CP combined with mental retardation in Erbil city. DNA was isolated from the peripheral blood samples of 40 cases suffering from mental retardation (MR) and CP combined with MR were recruited, sequence the 4, 6, 7, 8 exons of the MTHFR gene were done to identify the variants. Exons were amplified by PCR technique and then sequenced according to Sanger method to show the differences with MTHFR reference sequences. We observed (14) mutations in 4, 6, 7, 8 exons in the MTHFR gene associated with Cerebral Palsy combined with mental retardation included deletion, insertion, Substitution. The current study provides additional evidence that multiple variations in the MTHFR gene are associated with mental retardation and Cerebral Palsy.

Keywords: methylenetetrahydrofolate reductase (MTHFR) gene, SNPs, homocysteine, sequencing

Procedia PDF Downloads 272

Authors: Mostafa Firoozabadi, Alireza Foroughi Nematollahi

Abstract:

Semi autogenous mills are designed for grinding or primary crushed ore, and are the most widely used in concentrators globally. Any defect occurrence in semi autogenous mills can stop the production line. A Gearbox is a significant part of a rotating machine or a mill, so, the gearbox monitoring is a necessary process to prevent the unwanted defects. When a defect happens in a gearbox bearing, this defect can be transferred to the other parts of the equipment like inner ring, outer ring, balls, and the bearing cage. Vibration analysis is one of the most effective and common ways to detect the bearing defects in the mills. Vibration signal in a mill can be made by different parts of the mill including electromotor, pinion girth gear, different rolling bearings, and tire. When a vibration signal, made by the aforementioned parts, is added to the gearbox vibration spectrum, an accurate and on time defect detection in the gearbox will be difficult. In this paper, a new method is proposed to detect the gearbox bearing defects in the semi autogenous mill on time and accurately, using the vibration signal analysis method. In this method, if the vibration values are increased in the vibration curve, the probability of defect occurrence is investigated by comparing the equipment vibration values and the standard ones. Then, all vibration frequencies are extracted from the vibration signal and the equipment defect is detected using the vibration spectrum curve. This method is implemented on the semi autogenous mills in the Golgohar mining and industrial company in Iran. The results show that the proposed method can detect the bearing looseness on time and accurately. After defect detection, the bearing is opened before the equipment failure and the predictive maintenance actions are implemented on it.

Keywords: condition monitoring, gearbox defects, predictive maintenance, vibration analysis

Procedia PDF Downloads 432