Search results for: genetic diagnosis

Authors: J. J. Mathew

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Pulmonary tuberculosis is highly prevalent in the Indian subcontinent. Most cases of pulmonary tuberculosis are diagnosed with sputum examinations and the vast majority of these are undertaken by the government run establishments. However, mycobacterial cultures are not routinely done, unless drug resistance is detected based on clinical response. Modern diagnostic tests like bronchoscopy and Genexpert are not routinely employed in the government institutions for the diagnosis of pulmonary tuberculosis, but have been accepted widely by good private institutions. The utility of these investigations in the private sector is not yet well recognized. This retrospective study aims to assess the usefulness of bronchoscopy and Genexpert in the diagnosis of pulmonary tuberculosis in quaternary care private hospital in India. 30 patients with respiratory symptoms raising the possibility of tuberculosis based on clinical and radiological features, but without any significant sputum production, were subject to bronchoscopy and BAL samples taken for microbiological studies, including Genexpert. 6 out of the 30 patients were found to be Genexpert positive and none of them showed Rifampicin resistance. All the 6 cases had upper zone predominant disease. One of the 6 cases of tuberculosis had another co-existent bacterial infection according to the routine culture studies. 6 other cases were proven to be due to other bacterial infections alone, 2 had a malignant diagnosis and the remaining cases were thought to be non-infective pathologies. The Genexpert results were made available within 48 hours in the 6 positive cases. All of them were commenced on standard anti-tuberculous regimen with excellent clinical response. The other infective cases were also managed successfully based on the drug susceptibilities. The study has shown the usefulness of these investigations as early intervention enabled diagnosis facilitating treatment and prevention of any clinical deterioration. The study lends support to early bronchoscopy and Genexpert testing in suspected cases of pulmonary tuberculosis without significant sputum production, in a high prevalence country which normally relies on sputum examination for the diagnosis of pulmonary tuberculosis.

Keywords: pulmonary, tuberculosis, bronchoscopy, genexpert

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Authors: M. Maatar, M. Mekadem, M. Medale, B. Hadjed, B. Imine

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In this paper, numerical simulations have been carried out to study the performances of a flapping wing used as an energy collector. Metamodeling and genetic algorithms are used to detect the optimal configuration, improving power coefficient and/or efficiency. Radial basis functions and genetic algorithms have been applied to solve this problem. Three optimization factors are controlled, namely dimensionless heave amplitude h₀, pitch amplitude θ₀ and flapping frequency f. ANSYS FLUENT software has been used to solve the principal equations at a Reynolds number of 1100, while the heave and pitch motion of a NACA0015 airfoil has been realized using a developed function (UDF). The results reveal an average power coefficient and efficiency of 0.78 and 0.338 with an inexpensive low-fidelity model and a total relative error of 4.1% versus the simulation. The performances of the simulated optimum RBF-NSGA-II have been improved by 1.2% compared with the validated model.

Keywords: numerical simulation, flapping wing, energy extraction, power coefficient, efficiency, RBF, NSGA-II

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Authors: Katalin Gombos, Bence Gálik, Krisztina Ildikó Kalács, Krisztina Gödöny, Ákos Várnagy, József Bódis, Attila Gyenesei, Gábor L. Kovács

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Although non-invasive pre-implantation genetic testing for aneuploidy (NIPGT-A) is potentially appropriate to assess chromosomal ploidy of the embryo, practical application of it in a routine IVF center has not been started in the absence of a recommendation. We developed a comprehensive workflow for a clinically applicable strategy for NIPGT-A based on next-generation sequencing (NGS) technology. We performed MALBAC whole genome amplification and NGS on spent blastocyst culture media of Day 3 embryos fertilized with intra-cytoplasmic sperm injection (ICSI). Spent embryonic culture media of morphologically good quality score embryos were enrolled in further analysis with the blank culture media as background control. Chromosomal abnormalities were identified by an optimized bioinformatics pipeline applying a copy number variation (CNV) detecting algorithm. We demonstrate a comprehensive workflow covering both wet- and dry-lab procedures supporting a clinically applicable strategy for NIPGT-A. It can be carried out within 48 h which is critical for the same-cycle blastocyst transfer, but also suitable for “freeze all” and “elective frozen embryo” strategies. The described integrated approach of non-invasive evaluation of embryonic DNA content of the culture media can potentially supplement existing pre-implantation genetic screening methods.

Keywords: next generation sequencing, in vitro fertilization, embryo assessment, non-invasive pre-implantation genetic testing

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Authors: Marina Franulovic, Robert Basan, Bozidar Krizan

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Constitutive modelling of material behaviour is becoming increasingly important in prediction of possible failures in highly loaded engineering components, and consequently, optimization of their design. In order to account for large number of phenomena that occur in the material during operation, such as kinematic hardening effect in low cycle fatigue behaviour of steels, complex nonlinear material models are used ever more frequently, despite of the complexity of determination of their parameters. As a method for the determination of these parameters, genetic algorithm is good choice because of its capability to provide very good approximation of the solution in systems with large number of unknown variables. For the application of genetic algorithm to parameter identification, inverse analysis must be primarily defined. It is used as a tool to fine-tune calculated stress-strain values with experimental ones. In order to choose proper objective function for inverse analysis among already existent and newly developed functions, the research is performed to investigate its influence on material behaviour modelling.

Keywords: genetic algorithm, kinematic hardening, material model, objective function

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Authors: Reema K. AlEssa, Sahar Alshomer, Abdullah Alfaleh, Sultan ALkhenaizan, Mohammed Albalwi

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Ichthyosis is a disorder of abnormal keratinization, characterized by excessive scaling, and consists of more than twenty subtypes varied in severity, mode of inheritance, and the genes involved. There is insufficient data in the literature about the epidemiology and characteristics of ichthyosis locally. Our aim is to identify the histopathological features and genetic profile of ichthyosis. Method: It is an observational retrospective case series study conducted in March 2020, included all patients who were diagnosed with Ichthyosis and confirmed by histological and molecular findings over the last 20 years in King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia. Molecular analysis was performed by testing genomic DNA and checking genetic variations using the AmpliSeq panel. All disease-causing variants were checked against HGMD, ClinVar, Genome Aggregation Database (gnomAD), and Exome Aggregation Consortium (ExAC) databases. Result: A total of 60 cases of Ichthyosis were identified with a mean age of 13 ± 9.2. There is an almost equal distribution between female patients 29 (48%) and males 31 (52%). The majority of them were Saudis, 94%. More than half of patients presented with general scaling 33 (55%), followed by dryness and coarse skin 19 (31.6%) and hyperlinearity 5 (8.33%). Family history and history of consanguinity were seen in 26 (43.3% ), 13 (22%), respectively. History of colloidal babies was found in 6 (10%) cases of ichthyosis. The most frequent genes were ALOX12B, ALOXE3, CERS3, CYP4F22, DOLK, FLG2, GJB2, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1, TGM5, VPS33B. Most frequent variations were detected in CYP4F22 in 16 cases (26.6%) followed by ALOXE3 6 (10%) and STS 6 (10%) then TGM1 5 (8.3) and ALOX12B 5 (8.3). The analysis of molecular genetic identified 23 different genetic variations in the genes of ichthyosis, of which 13 were novel mutations. Homozygous mutations were detected in the majority of ichthyosis cases, 54 (90%), and only 1 case was heterozygous. Few cases, 4 (6.6%) had an unknown type of ichthyosis with a negative genetic result. Conclusion: 13 novel mutations were discovered. Also, about half of ichthyosis patients had a positive history of consanguinity.

Keywords: ichthyosis, genetic profile, molecular characterization, congenital ichthyosis

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Authors: Shih-Yu Wang, Shun-Wen Hsiao

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In the field of cybersecurity, there exists many vendors giving malware samples classified results, namely naming after the label that contains some important information which is also called AV label. Lots of researchers relay on AV labels for research. Unfortunately, AV labels are too cluttered. They do not have a fixed format and fixed naming rules because the naming results were based on each classifiers' viewpoints. A way to fix the problem is taking a majority vote. However, voting can sometimes create problems of bias. Thus, we create a novel ensemble approach which does not rely on the cacophonous naming result but depend on group identification to aggregate everyone's opinion. To achieve this purpose, we develop an scoring system called Pairwise Consensus Score (PCS) to calculate result similarity. The entire method architecture combine Genetic Algorithm and PCS to find maximum consensus in the group. Experimental results revealed that our method outperformed the majority voting by 10% in term of the score.

Keywords: genetic algorithm, ensemble learning, malware family, malware labeling, AV labels

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Authors: Nayer Mofidtabatabaei

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Advancements in artificial intelligence (AI) have transformed various fields, including psychology and behavioral sciences. This paper explores the diverse ways in which AI is applied to enhance research, diagnosis, therapy, and understanding of human behavior and mental health. We discuss the potential benefits and challenges associated with AI in these fields, emphasizing the ethical considerations and the need for collaboration between AI researchers and psychological and behavioral science experts. Artificial Intelligence (AI) has gained prominence in recent years, revolutionizing multiple industries, including healthcare, finance, and entertainment. One area where AI holds significant promise is the field of psychology and behavioral sciences. AI applications in this domain range from improving the accuracy of diagnosis and treatment to understanding complex human behavior patterns. This paper aims to provide an overview of the various AI applications in psychological and behavioral sciences, highlighting their potential impact, challenges, and ethical considerations. Mental Health Diagnosis AI-driven tools, such as natural language processing and sentiment analysis, can analyze large datasets of text and speech to detect signs of mental health issues. For example, chatbots and virtual therapists can provide initial assessments and support to individuals suffering from anxiety or depression. Autism Spectrum Disorder (ASD) Diagnosis AI algorithms can assist in early ASD diagnosis by analyzing video and audio recordings of children's behavior. These tools help identify subtle behavioral markers, enabling earlier intervention and treatment. Personalized Therapy AI-based therapy platforms use personalized algorithms to adapt therapeutic interventions based on an individual's progress and needs. These platforms can provide continuous support and resources for patients, making therapy more accessible and effective. Virtual Reality Therapy Virtual reality (VR) combined with AI can create immersive therapeutic environments for treating phobias, PTSD, and social anxiety. AI algorithms can adapt VR scenarios in real-time to suit the patient's progress and comfort level. Data Analysis AI aids researchers in processing vast amounts of data, including survey responses, brain imaging, and genetic information. Privacy Concerns Collecting and analyzing personal data for AI applications in psychology and behavioral sciences raise significant privacy concerns. Researchers must ensure the ethical use and protection of sensitive information. Bias and Fairness AI algorithms can inherit biases present in training data, potentially leading to biased assessments or recommendations. Efforts to mitigate bias and ensure fairness in AI applications are crucial. Transparency and Accountability AI-driven decisions in psychology and behavioral sciences should be transparent and subject to accountability. Patients and practitioners should understand how AI algorithms operate and make decisions. AI applications in psychological and behavioral sciences have the potential to transform the field by enhancing diagnosis, therapy, and research. However, these advancements come with ethical challenges that require careful consideration. Collaboration between AI researchers and psychological and behavioral science experts is essential to harness AI's full potential while upholding ethical standards and privacy protections. The future of AI in psychology and behavioral sciences holds great promise, but it must be navigated with caution and responsibility.

Keywords: artificial intelligence, psychological sciences, behavioral sciences, diagnosis and therapy, ethical considerations

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Authors: Adesoji Tunbosun Jaiyeola, Josiah Adeyemo

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Sediment yield can be considered to be the total sediment load that leaves a drainage basin. The knowledge of the quantity of sediments present in a river at a particular time can lead to better flood capacity in reservoirs and consequently help to control over-bane flooding. Furthermore, as sediment accumulates in the reservoir, it gradually loses its ability to store water for the purposes for which it was built. The development of hydrological models to forecast the quantity of sediment present in a reservoir helps planners and managers of water resources systems, to understand the system better in terms of its problems and alternative ways to address them. The application of artificial intelligence models and technique to such real-life situations have proven to be an effective approach of solving complex problems. This paper makes an extensive review of literature relevant to the theories and applications of evolutionary algorithms, and most especially genetic programming. The successful applications of genetic programming as a soft computing technique were reviewed in sediment modelling and other branches of knowledge. Some fundamental issues such as benchmark, generalization ability, bloat and over-fitting and other open issues relating to the working principles of GP, which needs to be addressed by the GP community were also highlighted. This review aim to give GP theoreticians, researchers and the general community of GP enough research direction, valuable guide and also keep all stakeholders abreast of the issues which need attention during the next decade for the advancement of GP.

Keywords: benchmark, bloat, generalization, genetic programming, over-fitting, sediment yield

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Authors: Rohit Kothari, Muneer Mohamed, Vivekanandh K., Sunmeet Sandhu, Preema Sinha, Anuj Bhatnagar

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Introduction: Hyper-IgE syndrome is a rare primary immunodeficiency syndrome characterised by triad of severe atopic dermatitis, recurrent pulmonary infections, and recurrent staphylococcal skin infections. The diagnosis requires a high degree of suspicion, typical clinical features, and not mere rise in serum-IgE levels, which may be seen in multiple conditions. Genetic studies are not always possible in a resource poor setting. This study highlights various presentations of Hyper-IgE syndrome in skin of color children. Case-series: Our study had six children of Hyper-IgE syndrome aged twomonths to tenyears. All had onset in first ten months of life except one with a late-onset at two years. All had recurrent eczematoid rash, which responded poorly to conventional treatment, secondary infection, multiple episodes of hospitalisation for pulmonary infection, and raised serum IgE levels. One case had occasional vesicles, bullae, and crusted plaques over both the extremities. Genetic study was possible in only one of them who was found to have pathogenic homozygous deletions of exon-15 to 18 in DOCK8 gene following which he underwent bone marrow transplant (BMT), however, succumbed to lower respiratory tract infection two months after BMT and rest of them received multiple courses of antibiotics, oral/ topical steroids, and cyclosporine intermittently with variable response. Discussion: Our study highlights various characteristics, presentation, and management of this rare syndrome in children. Knowledge of these manifestations in skin of color will facilitate early identification and contribute to optimal care of the patients as representative data on the same is limited in literature.

Keywords: absolute eosinophil count, atopic dermatitis, eczematous rash, hyper-immunoglobulin E syndrome, pulmonary infection, serum IgE, skin of color

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Authors: Muhamad Afiq Faisal, Yahaya, Mohd Faizal, Hamzah

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Genetic modification technology allows scientists to alter the genetic information of a particular organism. The technology allows the production of genetically modified organism (GMO) that has the enhanced property compared to the unmodified organism. The application of such technology is not only in agriculture industry, it is now has been applied extensively in biopharmaceutical industry such as transgenic vaccines. In Malaysia, Biosafety Act 2007 has been enacted in which all GMO-based products must be labeled with adequate information before being marketed. This paper aims to determine the awareness level amongst Malaysian consumers on the GM products available in the market and the efficiency of information supplied in the GM product labeling. The result of the survey will serve as a guideline for Malaysia government agency bodies to provide comprehensive yet efficient information to consumers for the purpose of GM product labeling in the near future. In conclusion, the efficiency of information delivery plays a vital role in ensuring that the information is being conveyed clearly to Malaysian consumers during the selection process of GM products available in the market.

Keywords: genetic modification technology, genetically modified organisms, genetically modified organism products labeling, Biosafety Act 2007

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Authors: T. Toathom, M. Munlin, P. Sugunnasil

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The traveling salesman problem (TSP) is one of the best-known problems in optimization problem. There are many research regarding the TSP. One of the most usage tool for this problem is the genetic algorithm (GA). The chromosome of the GA for TSP is normally encoded by the order of the visited city. However, the traditional chromosome encoding scheme has some limitations which are twofold: the large solution space and the inability to encapsulate some information. The number of solution for a certain problem is exponentially grow by the number of city. Moreover, the traditional chromosome encoding scheme fails to recognize the misplaced correct relation. It implies that the tradition method focuses only on exact solution. In this work, we relax some of the concept in the GA for TSP which is the exactness of the solution. The proposed work exploits the relation between cities in order to reduce the solution space in the chromosome encoding. In this paper, a second order GA is proposed to solve the TSP. The term second order refers to how the solution is encoded into chromosome. The chromosome is divided into 2 types: the high order chromosome and the low order chromosome. The high order chromosome is the chromosome that focus on the relation between cities such as the city A should be visited before city B. On the other hand, the low order chromosome is a type of chromosome that is derived from a high order chromosome. In other word, low order chromosome is encoded by the traditional chromosome encoding scheme. The genetic operation, mutation and crossover, will be performed on the high order chromosome. Then, the high order chromosome will be mapped to a group of low order chromosomes whose characteristics are satisfied with the high order chromosome. From the mapped set of chromosomes, the champion chromosome will be selected based on the fitness value which will be later used as a representative for the high order chromosome. The experiment is performed on the city data from TSPLIB.

Keywords: genetic algorithm, traveling salesman problem, initial population, chromosomes encoding

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Authors: Roseline Oghogho Osaseri, Osaseri E. I.

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Lassa fever is an epidemic hemorrhagic fever caused by the Lassa virus, an extremely virulent arena virus. This highly fatal disorder kills 10% to 50% of its victims, but those who survive its early stages usually recover and acquire immunity to secondary attacks. One of the major challenges in giving proper treatment is lack of fast and accurate diagnosis of the disease due to multiplicity of symptoms associated with the disease which could be similar to other clinical conditions and makes it difficult to diagnose early. This paper proposed an Adaptive Neuro Fuzzy Inference System (ANFIS) for the prediction of Lass Fever. In the design of the diagnostic system, four main attributes were considered as the input parameters and one output parameter for the system. The input parameters are Temperature on admission (TA), White Blood Count (WBC), Proteinuria (P) and Abdominal Pain (AP). Sixty-one percent of the datasets were used in training the system while fifty-nine used in testing. Experimental results from this study gave a reliable and accurate prediction of Lassa fever when compared with clinically confirmed cases. In this study, we have proposed Lassa fever diagnostic system to aid surgeons and medical healthcare practictionals in health care facilities who do not have ready access to Polymerase Chain Reaction (PCR) diagnosis to predict possible Lassa fever infection.

Keywords: anfis, lassa fever, medical diagnosis, soft computing

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Authors: Roozbeh Aghamajidi

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Shaft spillways are circling spillways used generally for emptying unexpected floods on earth and concrete dams. There are different types of shaft spillways: Stepped and Smooth spillways. Stepped spillways pass more flow discharges through themselves in comparison to smooth spillways. Therefore, awareness of flow behavior of these spillways helps using them better and more efficiently. Moreover, using vortex breaker has great effect on passing flow through shaft spillway. In order to use more efficiently, the risk of flow pressure decreases to less than fluid vapor pressure, called cavitations, should be prevented as far as possible. At this research, it has been tried to study different behavior of spillway with different vortex shapes on spillway crest on flow. From the viewpoint of the effects of flow regime changes on spillway, changes of step dimensions, and the change of type of discharge will be studied effectively. Therefore, two spillway models with three different vortex breakers and three arrangements have been used to assess the hydraulic characteristics of flow. With regard to the inlet discharge to spillway, the parameters of pressure and flow velocity on spillway surface have been measured at several points and after each run. Using these kinds of information leads us to create better design criteria of spillway profile. To achieve these purposes, optimization has important role and genetic algorithm are utilized to study the emptying discharge. As a result, it turned out that the best type of spillway with maximum discharge coefficient is smooth spillway with ogee shapes as vortex breaker and 3 number as arrangement. Besides it has been concluded that the genetic algorithm can be used to optimize the results.

Keywords: shaft spillway, vortex breaker, flow, genetic algorithm

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Authors: Ajay Kumar Yadav, Masum Paudel, Ritesh Chaudhary

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Background: Understanding the diagnosis and the treatment plan is very important for the patient which reflects the effectiveness of the patient care as well as counseling. Large groups of patients do not understand their emergency care plan or their discharge instructions. With only a little more than 2/3ʳᵈ of the adult population is literate and poorly distributed health service institutions in Nepal, exploring the current status of patient understanding of their diagnosis and treatment would help identify interventions to improve patient compliance with the provided care and the treatment outcomes. Objectives: This study was conducted to identify and describe the areas of patients’ understanding and confusion regarding emergency care and discharge instructions at the Emergency ward of B. P. Koirala Institute of Health Sciences teaching hospital, Dharan, Nepal. Methods: A cross-sectional study was conducted among 426 patients discharged from the emergency unit of BPKIHS. Cases who are leaving against medical advice absconded cases and those patients who came just for vaccination are excluded from the study. Patients’ understanding of the treatment plan and diagnosis was measured. Results: There were 60% men in this study. More than half of the participants reported not being able to read English. More than 90% of the respondents reported they could not read their prescription at all. While patient could point out their understanding of their diagnosis at discharge, most of them could not tell the names and the dosage of all the drugs prescribed to them at discharge. More than 95% of the patients could not tell the most common side effects of the drugs that they are prescribed. Conclusions: There is a need to further explore the factors influencing the understanding of the patients regarding their treatment plan. Interventions to understand the health literacy needs and ways to improve the health literacy of the patients are needed.

Keywords: discharge instruction, emergency ward, health literacy, treatment plan

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Authors: Kelechi Emmanuel, Kyaw Thein Aung, William Burch

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Introduction: Although rewarding in more ways than one, rural medicine can be challenging. The factors that lead to the challenges experienced in rural medicine include but are not limited to scarcity of resources, poor patient education inadequately trained professionals. This is the first single center study done on the challenges of and ways to improve diagnosis in rural medicine. Materials and Methods: Questionnaires were given to providers in a single hospital in rural Tennessee USA. In which providers were asked the question ‘In the past six months, what measures have you taken to improve your diagnostic accuracy given limited resources. Results: The questionnaire was passed to ten physicians working in a two hundred and twentyfive hospital bed. Physicians who participated included physicians in hospital medicine, emergency medicine, surgery, cardiology and gastroenterology. The study found that improved physical examination skills, access to specialist especially via telemedicine and affiliation to centers with more experienced professionals improved diagnosis and overall patient outcome in rural medicine. Conclusion: From this single center study, there is evidence to show that in addition to honing physical examination skills and having access to immediate results of testing done; hospital collaborations and access to highly trained specialist via telemedicine does improve diagnosis in rural medicine.

Keywords: rural medicine, diagnostic accuracy, diagnosis, telemedicine

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Authors: Henrik L. Funke, Lars Ulke-Winter, Sandra Gelbrich, Lothar Kroll

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This work reports about an approach for an automatic adaptation of concrete formulations based on genetic algorithms (GA) to optimize a wide range of different fit-functions. In order to achieve the goal, a method was developed which provides a numerical description of a fibre reinforced concrete (FRC) mixture regarding the production technology and the property spectrum of the concrete. In a first step, the FRC mixture with seven fixed components was characterized by varying amounts of the components. For that purpose, ten concrete mixtures were prepared and tested. The testing procedure comprised flow spread, compressive and bending tensile strength. The analysis and approximation of the determined data was carried out by GAs. The aim was to obtain a closed mathematical expression which best describes the given seven-point cloud of FRC by applying a Gene Expression Programming with Free Coefficients (GEP-FC) strategy. The seven-parametric FRC-mixtures model which is generated according to this method correlated well with the measured data. The developed procedure can be used for concrete mixtures finding closed mathematical expressions, which are based on the measured data.

Keywords: concrete design, fibre reinforced concrete, genetic algorithms, GEP-FC

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Authors: Mitakshara Sharma, Sonal Sharma

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Vesiculobullous diseases are heterogeneous group of dermatological disorders with protean manifestations. The most important technique for the patients with vesiculobullous diseases is conventional histopathology and confirmatory tests like direct immunofluorescence (DIF) and indirect immunofluorescence (IIF). DIF has been used for decades to investigate pathophysiology and in the diagnosis. It detects molecules such as immunoglobulins and complement components. It is done on the perilesional skin. Diagnosis of DIF test depends on features like primary site of the immune deposits, class of immunoglobulin, number of immune deposits and deposition at other sites. The aim of the study is to correlate DIF with clinical and histopathological findings and to analyze the utility of DIF in the diagnosis of these disorders. It is a retrospective descriptive study conducted for 2 years from 2015 to 2017 in Department of Pathology, GTB Hospital on perilesional punch biopsies of vesiculobullous lesions. Biopsies were sent in Michael’s medium. The specimens were washed, frozen and incubated with fluorescein isothiocyanate (FITC) tagged antihuman antibodies IgA, IgG, IgM, C3 & F and were viewed under fluorescent microscope. Out of 401 skin biopsies submitted for DIF, 285 were vesiculobullous diseases, in which the most common was Pemphigus vulgaris (34%) followed by Bullous pemphigoid (21.5%), Dermatitis herpetiformis (16%), Pemphigus foliaceus (11.9%), Linear IgA disease (11.9%), Epidermolysisbullosa (2.39%) and Pemphigus herpetiformis (1.7%). We will be presenting the DIF findings in the all these vesiculobullous diseases. DIF in conjugation with histopathology gives the best diagnostic yield in these lesions. It also helps in the diagnosis whenever there is a clinical and histopathological overlap.

Keywords: antibodies, direct immunofluorescence, pemphigus, vesiculobullous

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Authors: Mukhtiar Singh, Sumeet Nagar

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Vehicle routing problem (VRP) is a combinatorial optimization and nonlinear programming problem aiming to optimize decisions regarding given set of routes for a fleet of vehicles in order to provide cost-effective and efficient delivery of both services and goods to the intended customers. This paper proposes the application of integrated particle swarm optimization (PSO) and genetic optimization algorithm (GA) to address the Vehicle routing problem in sugarcane industry in India. Suger industry is very prominent agro-based industry in India due to its impacts on rural livelihood and estimated to be employing around 5 lakhs workers directly in sugar mills. Due to various inadequacies, inefficiencies and inappropriateness associated with the current vehicle routing model it costs huge money loss to the industry which needs to be addressed in proper context. The proposed algorithm utilizes the crossover operation that originally appears in genetic algorithm (GA) to improve its flexibility and manipulation more readily and avoid being trapped in local optimum, and simultaneously for improving the convergence speed of the algorithm, level set theory is also added to it. We employ the hybrid approach to an example of VRP and compare its result with those generated by PSO, GA, and parallel PSO algorithms. The experimental comparison results indicate that the performance of hybrid algorithm is superior to others, and it will become an effective approach for solving discrete combinatory problems.

Keywords: fuzzy logic, genetic algorithm, particle swarm optimization, vehicle routing problem

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Authors: Marziyeh Bahrami, Hamed Pahlevan Hsseini, Behnam Ghamami, Arman Alvanpour, Hamed Ezzati, Amir Salar Sadeghi

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One of the ways to increase the efficiency of services in the system of agents and, of course, in the world of cloud computing, is to use virtualization techniques. The aim of this research is to create changes in cloud computing services that will reduce as much as possible the energy consumption related to the migration of virtual machines and, in some way, the energy related to the allocation of resources and reduce the amount of pollution. So far, several methods have been proposed to increase the efficiency of cloud computing services in order to save energy in the cloud environment. The method presented in this article tries to prevent energy consumption by data centers and the subsequent production of carbon and biological pollutants as much as possible by increasing the efficiency of cloud computing services. The results show that the proposed algorithm, using the improvement in virtualization techniques and with the help of a genetic algorithm, improves the efficiency of cloud services in the matter of migrating virtual machines and finally saves consumption. becomes energy.

Keywords: consumption reduction, cloud computing, genetic algorithm, live migration, virtual Machine

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Authors: Ovidiu Domşa, Nicolae Bold

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Using Information and Communication Technologies (ICT) notions in education and three basic processes of education (teaching, learning and assessment) can bring benefits to the pupils and the professional development of teachers. In this matter, we refer to these notions as concepts taken from the informatics area and apply them to the domain of education. These notions refer to genetic algorithms and arborescent structures, used in the specific process of assessment or evaluation. This paper uses these kinds of notions to generate subtrees from a main tree of tests related between them by their degree of difficulty. These subtrees must contain the highest number of connections between the nodes and the lowest number of missing edges (which are subtrees of the main tree) and, in the particular case of the non-existence of a subtree with no missing edges, the subtrees which have the lowest (minimal) number of missing edges between the nodes, where a node is a test and an edge is a direct connection between two tests which differs by one degree of difficulty. The subtrees are represented as sequences. The tests are the same (a number coding a test represents that test in every sequence) and they are reused for each sequence of tests.

Keywords: chromosome, genetic algorithm, subtree, test

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Authors: Ying Shen, Weihua Zhu

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Medical images are important to help identifying different diseases, for example, Magnetic resonance imaging (MRI) can be used to investigate the brain, spinal cord, bones, joints, breasts, blood vessels, and heart. Image segmentation, in medical image analysis, is usually the first step to find out some characteristics with similar color, intensity or texture so that the diagnosis could be further carried out based on these features. This paper introduces an improved C-means model to segment the MRI images. The model is based on information entropy to evaluate the segmentation results by achieving global optimization. Several contributions are significant. Firstly, Genetic Algorithm (GA) is used for achieving global optimization in this model where fuzzy C-means clustering algorithm (FCMA) is not capable of doing that. Secondly, the information entropy after segmentation is used for measuring the effectiveness of MRI image processing. Experimental results show the outperformance of the proposed model by comparing with traditional approaches.

Keywords: magnetic resonance image (MRI), c-means model, image segmentation, information entropy

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Authors: Anas H. Aljemely, Jianping Xuan

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Rolling bearing fault diagnosis plays a pivotal issue in the rotating machinery of modern manufacturing. In this research, a raw vibration signal and improved deep learning method for bearing fault diagnosis are proposed. The multi-dimensional scales of raw vibration signals are selected for evaluation condition monitoring system, and the deep learning process has shown its effectiveness in fault diagnosis. In the proposed method, employing an Exponential linear unit (ELU) layer in a convolutional neural network (CNN) that conducts the identical function on positive data, an exponential nonlinearity on negative inputs, and a particular convolutional operation to extract valuable features. The identification results show the improved method has achieved the highest accuracy with a 100-dimensional scale and increase the training and testing speed.

Keywords: bearing fault prognostics, developed CNN model, multiple-scale evaluation, deep learning features

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Authors: Wajid Mumtaz, Aamir Saeed Malik, Syed Saad Azhar Ali, Mohd Azhar Mohd Yasin

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In this paper, a technique based on electroencephalogram (EEG) analysis is presented, aiming for diagnosing major depressive disorder (MDD) among a potential population of MDD patients and healthy controls. EEG is recognized as a clinical modality during applications such as seizure diagnosis, index for anesthesia, detection of brain death or stroke. However, its usability for psychiatric illnesses such as MDD is less studied. Therefore, in this study, for the sake of diagnosis, 2 groups of study participants were recruited, 1) MDD patients, 2) healthy people as controls. EEG data acquired from both groups were analyzed involving inter-hemispheric asymmetry and composite permutation entropy index (CPEI). To automate the process, derived quantities from EEG were utilized as inputs to classifier such as logistic regression (LR) and support vector machine (SVM). The learning of these classification models was tested with a test dataset. Their learning efficiency is provided as accuracy of classifying MDD patients from controls, their sensitivities and specificities were reported, accordingly (LR =81.7 % and SVM =81.5 %). Based on the results, it is concluded that the derived measures are indicators for diagnosing MDD from a potential population of normal controls. In addition, the results motivate further exploring other measures for the same purpose.

Keywords: major depressive disorder, diagnosis based on EEG, EEG derived features, CPEI, inter-hemispheric asymmetry

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Authors: Kelsi Hagerty, Ami Rosen, Aaliyah Heyward, Nadia Ali, Emily Brown, Erin Demo, Yue Guan, Modele Ogunniyi, Brianna McDaniels, Alanna Morris, Kunal Bhatt

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Hereditary transthyretin amyloidosis (hATTR) is a progressive, multi-systemic, and life-threatening disease caused by a disruption in the TTR protein that delivers thyroxine and retinol to the liver. This disruption causes the protein to misfold into amyloid fibrils, leading to the accumulation of the amyloid fibrils in the heart, nerves, and GI tract. Over 130 variants in the TTR gene are known to cause hATTR. The Val122Ile variant is the most common in the United States and is seen almost exclusively in people of African descent. TTR variants are inherited in an autosomal dominant fashion and have incomplete penetrance and variable expressivity. Individuals with hATTR may exhibit symptoms from as early as 30 years to as late as 80 years of age. hATTR is characterized by a wide range of clinical symptoms such as cardiomyopathy, neuropathy, carpal tunnel syndrome, and GI complications. Without treatment, hATTR leads to progressive disease and can ultimately lead to heart failure. hATTR disproportionately affects individuals of African descent; the estimated prevalence of hATTR among Black individuals in the US is 3.4%. Unfortunately, hATTR is often underdiagnosed and misdiagnosed because many symptoms of the disease overlap with other cardiac conditions. Due to the progressive nature of the disease, multi-systemic manifestations that can lead to a shortened lifespan, and the availability of free genetic testing and promising FDA-approved therapies that enhance treatability, early identification of individuals with a pathogenic hATTR variant is important, as this can significantly impact medical management for patients and their relatives. Furthermore, recent literature suggests that TTR genetic testing should be performed in all patients with suspicion of TTR-related cardiomyopathy, regardless of age, and that follow-up with genetic counseling services is recommended. Relatives of patients with hATTR benefit from genetic testing because testing can identify carriers early and allow relatives to receive regular screening and management. Despite the striking prevalence of hATTR among Black individuals, hATTR remains underdiagnosed in this patient population, and germline genetic testing for hATTR in Black individuals seems to be underrepresented, though the reasons for this have not yet been brought to light. Historically, Black patients experience a number of barriers to seeking healthcare that has been hypothesized to perpetuate the underdiagnosis of hATTR, such as lack of access and mistrust of healthcare professionals. Prior research has described a myriad of factors that shape an individual’s decision about whether to pursue presymptomatic genetic testing for a familial pathogenic variant, such as family closeness and communication, family dynamics, and a desire to inform other family members about potential health risks. This study explores these factors through 10 in-depth interviews with patients with hATTR about what factors may be contributing to the underdiagnosis of hATTR in the Black population. Participants were selected from the Emory University Amyloidosis clinic based on having a molecular diagnosis of hATTR. Interviews were recorded and transcribed verbatim, then coded using MAXQDA software. Thematic analysis was completed to draw commonalities between participants. Upon preliminary analysis, several themes have emerged. Barriers identified include i) Misdiagnosis and a prolonged diagnostic odyssey, ii) Family communication and dynamics surrounding health issues, iii) Perceptions of healthcare and one’s own health risks, and iv) The need for more intimate provider-patient relationships and communication. Overall, this study gleaned valuable insight from members of the Black community about possible factors contributing to the underdiagnosis of hATTR, as well as potential solutions to go about resolving this issue.

Keywords: cardiac amyloidosis, heart failure, TTR, genetic testing

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Authors: Fariborz Ahmadi, Hamid Salehi, Khosrow Karimi

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A sensor network is set of sensor nodes that cooperate together to perform a predefined tasks. The important problem in this network is power consumption. So, in this paper one algorithm based on the eurygaster life is introduced to minimize power consumption by the nodes of these networks. In this method the search space of problem is divided into several partitions and each partition is investigated separately. The evaluation results show that our approach is more efficient in comparison to other evolutionary algorithm like genetic algorithm.

Keywords: evolutionary computation, genetic algorithm, particle swarm optimization, sensor network optimization

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Authors: Ghaleb Bin Huraib, Fahad Al Harthi, Mohammad Mustafa, Abdulrahman Al-Asmari

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Introduction: Vitiligo is an acquired pigmentary skin disorder with the regional disappearance of melanocytes. Vitiligo affects 0.1 to 2% of the global population, and the incidence varies substantially depending on ethnicity. Glutathione S-transferase (GST) is a multigene family of enzymes that detoxify oxidative stress products. The oxidative stress-related GSTM1/GSTT1 genes deletion may cause epidermal melanocytes destruction and the development of vitiligo. Hence, the present study aimed to investigate the association of GST gene polymorphisms with vitiligo in the Saudi population, if any. Materials and Methods: The present study includes 129 vitiligo cases and 130 age-matched healthy controls. The proportion of male and female patients with vitiligo is almost equal. The multiplex polymerase chain reaction (PCR) method was used for polymorphic analysis. Results: Increased odds of generalized vitiligo was observed with the null genotypes of GSTT1- gene (OR = 1.91, 95% CI = 1.07-3.42, p = 0.019). The possible genetic combinations of GSTM1/GSTT1 and their genotypic distribution showed the frequency of GSTM1+/GSTT1+ 62/130 (47.69%) and GSTM1-/GSTT1+ 52/130 (40.00%) were higher in controls than in cases 44/129 (34.11%), 43/129 (33.34%), respectively while GSTM1+/GSTT1- and GSTM1-/GSTT1- null genotypes were higher 22/129 (17.05%) and 20/129 (15.50%) in vitiligo patients as compared to controls 11/130 (8.46%), 5/130 (3.84%), respectively. The strength of association of different genetic combinations with cases have shown GSTM1+/GSTT1- (OR = 2.81, 95% CI = 1.24-6.40, p = 0.009) and GSTM1-/GSTT1- (OR = 5.63, 95% CI = 1.96 - 16.16, p = 0.0004) were significantly higher in vitiligo cases as compared to controls. We did not observe any significant association of age and gender of patients with GST gene polymorphisms. Conclusions: The GSTT1-, GSTM1+/GSTT1- and GSTM1-/GSTT1- null genotypes were significantly associated with vitiligo. These genetic polymorphisms may be the associative genetic risk factor for vitiligo among Saudis. It could be used as a genetic marker for screening vitiligo patients among Saudis. Further studies on GSTs gene polymorphism in larger sample sizes from different geographical areas and ethnicity are needed to strengthen the present findings.

Keywords: vitiligo, GSTM1, GSTT1, gene polymorphism, oxidative stress

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Authors: Gehan Labib Abuelenain, Azza Fahmi, Salma Awad Mahmoud

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Toxoplasmosis is a global parasitic disease caused by the protozoan Toxoplasma gondii (T. gondii), with a high infection rate that affects one third of the human population and results in severe implications in pregnant women, neonates, and immunocompromised patients. Anti-parasitic treatments and schemes available against toxoplasmosis have barely evolved over the last two decades. The available T. gondii therapeutics cannot completely eradicate tissue cysts produced by the parasite and are not well-tolerated by immunocompromised patients. This work aims to highlight new trends in Toxoplasma gondii diagnosis by providing a comprehensive overview of the field, summarizing recent findings, and discussing the new technological advancements in toxoplasma diagnosis and treatment. Advancements in therapeutics utilizing trends in molecular biophysics, such as biosensors, epigenetics, and artificial intelligence (AI), might provide solutions for disease management and prevention. These insights will provide tools to identify research gaps and proffer planning options for disease control.

Keywords: toxoplamosis, diagnosis, therapeutics, biosensors, AI

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Authors: Sara Ataei, Maryam Taghizadeh-Ghehi, Amir Sarayani, Asieh Ashouri, Amirhossein Moslehi, Molouk Hadjibabaie, Kheirollah Gholami

Abstract:

Background: Acute kidney injury (AKI) is common in hematopoietic stem cell transplantation (HSCT) patients with an incidence of 21–73%. Prevention and early diagnosis reduces the frequency and severity of this complication. Predictive biomarkers are of major importance to timely diagnosis. Neutrophil gelatinase associated lipocalin (NGAL) is a widely investigated novel biomarker for early diagnosis of AKI. However, no study assessed NGAL for AKI diagnosis in HSCT patients. Methods: We performed further analyses on gathered data from our recent trial to evaluate the performance of urine NGAL (uNGAL) as an indicator of AKI in 72 allogeneic HSCT patients. AKI diagnosis and severity were assessed using Risk–Injury–Failure–Loss–End-stage renal disease and AKI Network criteria. We assessed uNGAL on days -6, -3, +3, +9 and +15. Results: Time-dependent Cox regression analysis revealed a statistically significant relationship between uNGAL and AKI occurrence. (HR=1.04 (1.008-1.07), P=0.01). There was a relation between uNGAL day +9 to baseline ratio and incidence of AKI (unadjusted HR=.1.047(1.012-1.083), P<0.01). The area under the receiver-operating characteristic curve for day +9 to baseline ratio was 0.86 (0.74-0.99, P<0.01) and a cut-off value of 2.62 was 85% sensitive and 83% specific in predicting AKI. Conclusions: Our results indicated that increase in uNGAL augmented the risk of AKI and the changes of day +9 uNGAL concentrations from baseline could be of value for predicting AKI in HSCT patients. Additionally uNGAL changes preceded serum creatinine rises by nearly 2 days.

Keywords: acute kidney injury, hemtopoietic stem cell transplantation, neutrophil gelatinase-associated lipocalin, Receiver-operating characteristic curve

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Authors: Xiyang Li, Qi Yu, Lun Zhang

Abstract:

In the face of natural disasters and other emergency situations, determining the optimal location of rescue centers is crucial for improving rescue efficiency and minimizing impact on affected populations. This paper proposes a method that integrates genetic algorithms (GA) and backpropagation neural networks (BPNN) to address the site selection optimization problem for emergency rescue centers. We utilize BPNN to accurately estimate the cost of delivering supplies from rescue centers to each temporary camp. Moreover, a genetic algorithm with a special partially matched crossover (PMX) strategy is employed to ensure that the number of temporary camps assigned to each rescue center adheres to predetermined limits. Using the population distribution data during the 2022 epidemic in Jiading District, Shanghai, as an experimental case, this paper verifies the effectiveness of the proposed method. The experimental results demonstrate that the BPNN-GA method proposed in this study outperforms existing algorithms in terms of computational efficiency and optimization performance. Especially considering the requirements for computational resources and response time in emergency situations, the proposed method shows its ability to achieve rapid convergence and optimal performance in the early and mid-stages. Future research could explore incorporating more real-world conditions and variables into the model to further improve its accuracy and applicability.

Keywords: emergency rescue centers, genetic algorithms, back-propagation neural networks, site selection optimization

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Authors: Mohamed Thani Ibouroi, Ali Cheha, Claudine Montgelard, Veronique Arnal, Dawiyat Massoudi, Guillelme Astruc, Said Ali Ousseni Dhurham, Aurelien Besnard

Abstract:

The Livingstone's flying fox (Pteropus livingstonii) and the Comorian fruit bat (P.seychellensis comorensis) are two endemic fruit bat species among the mostly threatened animals of the Comoros archipelagos. Despite their role as important ecosystem service providers like all flying fox species as pollinators and seed dispersers, little is known about their ecologies, population genetics and structures making difficult the development of evidence-based conservation strategies. In this study, we assess spatial distribution and ecological niche of both species using Species Distribution Modeling (SDM) based on the recent Ensemble of Small Models (ESMs) approach using presence-only data. Population structure and genetic diversity of the two species were assessed using both mitochondrial and microsatellite markers based on non-invasive genetic samples. Our ESMs highlight a clear niche partitioning of the two sympatric species. Livingstone’s flying fox has a very limited distribution, restricted on steep slope of natural forests at high elevation. On the contrary, the Comorian fruit bat has a relatively large geographic range spread over low elevations in farmlands and villages. Our genetic analysis shows a low genetic diversity for both fruit bats species. They also show that the Livingstone’s flying fox population of the two islands were genetically isolated while no evidence of genetic differentiation was detected for the Comorian fruit bats between islands. Our results support the idea that natural habitat loss, especially the natural forest loss and fragmentation are the important factors impacting the distribution of the Livingstone’s flying fox by limiting its foraging area and reducing its potential roosting sites. On the contrary, the Comorian fruit bats seem to be favored by human activities probably because its diets are less specialized. By this study, we concluded that the Livingstone’s flying fox species and its habitat are of high priority in term of conservation at the Comoros archipelagos scale.

Keywords: Comoros islands, ecological niche, habitat loss, population genetics, fruit bats, conservation biology

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