Search results for: genetic disease

Authors: Fouad Chebib, Marie Hogan, Ziad El-Zoghby, Maria Irazabal, Sarah Senum, Christina Heyer, Charles Madsen, Emilie Cornec-Le Gall, Atta Behfar, Barbara Ehrlich, Peter Harris, Vicente Torres

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Background: Mutations in PKD1 and PKD2, the genes encoding the proteins polycystin-1 (PC1) and polycystin-2 (PC2) cause autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a systemic disease associated with several extrarenal manifestations. Animal models have suggested an important role for the polycystins in cardiovascular function. The aim of the current study is to evaluate the association of various cardiomyopathies in a large cohort of patients with ADPKD. Methods: Clinical data was retrieved from medical records for all patients with ADPKD and cardiomyopathies (n=159). Genetic analysis was performed on available DNA by direct sequencing. Results: Among the 58 patients included in this case series, 39 patients had idiopathic dilated cardiomyopathy (IDCM), 17 had hypertrophic obstructive cardiomyopathy (HOCM), and 2 had left ventricular noncompaction (LVNC). The mean age at cardiomyopathy diagnosis was 53.3, 59.9 and 53.5 years in IDCM, HOCM and LVNC patients respectively. The median left ventricular ejection fraction at initial diagnosis of IDCM was 25%. Average basal septal thickness was 19.9 mm in patients with HOCM. Genetic data was available in 19, 8 and 2 cases of IDCM, HOCM, and LVNC respectively. PKD1 mutations were detected in 47.4%, 62.5% and 100% of IDCM, HOCM and LVNC cases. PKD2 mutations were detected only in IDCM cases and were overrepresented (36.8%) relative to the expected frequency in ADPKD (~15%). The prevalence of IDCM, HOCM, and LVNC in our ADPKD clinical cohort was 1:17, 1:39 and 1:333 respectively. When compared to the general population, IDCM and HOCM was approximately 10-fold more prevalent in patients with ADPKD. Conclusions: In summary, we suggest that PKD1 or PKD2 mutations may predispose to idiopathic dilated or hypertrophic cardiomyopathy. There is a trend for patients with PKD2 mutations to develop the former and for patients with PKD1 mutations to develop the latter. Predisposition to various cardiomyopathies may be another extrarenal manifestation of ADPKD.

Keywords: autosomal dominant polycystic kidney (ADPKD), polycystic kidney disease, cardiovascular, cardiomyopathy, idiopathic dilated cardiomyopathy, hypertrophic cardiomyopathy, left ventricular noncompaction

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Authors: Atlal El-Assaad

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Viruses change with time through mutations and result in new variants that may persist or disappear. A Mutation refers to an actual change in the virus genetic sequence, and a variant is a viral genome that may contain one or more mutations. Critical mutations may cause the virus to be more transmissible, with high disease severity, and more vulnerable to diagnostics, therapeutics, and vaccines. Thus, variants carrying such mutations may increase the risk to human health and are considered variants of concern (VOC). Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) - the contagious in humans, positive-sense single-stranded RNA virus that caused coronavirus disease 2019 (COVID-19) - has been studied thoroughly, and several variants were revealed across the world with their corresponding mutations. SARS-CoV-2 has four structural proteins, known as the S (spike), E (envelope), M (membrane), and N (nucleocapsid) proteins, but prior study and vaccines development focused on genetic mutations in the S protein due to its vital role in allowing the virus to attach and fuse with the membrane of a host cell. Specifically, subunit S1 catalyzes attachment, whereas subunit S2 mediates fusion. In this perspective, we studied all charged amino acid mutations of the SARS-CoV-2 viral spike protein S1 when bound to Antibody CC12.1 in a crystal structure and assessed the effect of different mutations. We generated all missense mutants of SARS-CoV-2 protein amino acids (AAs) within the SARS-CoV-2:CC12.1 complex model. To generate the family of mutants in each complex, we mutated every charged amino acid with all other charged amino acids (Lysine (K), Arginine (R), Glutamic Acid (E), and Aspartic Acid (D)) and studied the new binding of the complex after each mutation. We applied Poisson-Boltzmann electrostatic calculations feeding into free energy calculations to determine the effect of each mutation on binding. After analyzing our data, we identified charged amino acids keys for binding. Furthermore, we validated those findings against published experimental genetic data. Our results are the first to propose in silico potential life-threatening mutations of SARS-CoV-2 beyond the present mutations found in the five common variants found worldwide.

Keywords: SARS-CoV-2, variant, ionic amino acid, protein-protein interactions, missense mutation, AESOP

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Authors: Tuhina-khatun, Mohamed Hanafi Musa, Mohd Rafii Yosup, Wong Mui Yun, Aktar-uz-Zaman, Mahbod Sahebi

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Suppression subtractive hybridization (SSH) method is valuable tool for identifying differentially regulated genes in disease specific or tissue specific genes important for cellular growth and differentiation. It is a widely used method for separating DNA molecules that distinguish two closely related DNA samples. SSH is one of the most powerful and popular methods for generating subtracted cDNA or genomic DNA libraries. It is based primarily on a suppression polymerase chain reaction (PCR) technique and combines normalization and subtraction in a solitary procedure. The normalization step equalizes the abundance of DNA fragments within the target population, and the subtraction step excludes sequences that are common to the populations being compared. This dramatically increases the probability of obtaining low-abundance differentially expressed cDNAs or genomic DNA fragments and simplifies analysis of the subtracted library. SSH technique is applicable to many comparative and functional genetic studies for the identification of disease, developmental, tissue specific, or other differentially expressed genes, as well as for the recovery of genomic DNA fragments distinguishing the samples under comparison.

Keywords: suppression subtractive hybridization, differentially expressed genes, disease specific genes, tissue specific genes

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Authors: Pármenas Costa Macedo do Nascimento

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Periodontal disease is the most common disease in the oral cavity of felines. It starts with the accumulation of bacteria on the tooth surface supporting the tissues of the periodontal tissue, namely gums, alveolar bone, cementum, and periodontal ligament. The main clinical symptom observed by the owner is bad breath, which may lead to local and systemic consequences depending on the stage of periodontal disease, such as bleeding and bone loss. Therefore, the study is important to educate tutors to take better care of the felines oral health in order to try to prevent the disease. For this epidemiological study, the target population has been felines, located on the outskirts of Manaus, in the state of Amazonas, with a geographic area of 155.68 km², with no defined breed, from October 1st to 10th, 2021, whose samples has been randomly selected, with a detailed profile. The variables of interest for this study have been: absence or presence of periodontal disease, gender, age (delimited by age group), and condition (domiciled or homeless). Using a sample of 40 felines from 4 districts of the east side of Manaus chosen at random, an oral exam has been made to identify the studied disease. The animal's apparent age, condition, sex, and presence or absence of periodontal disease has been noted. It has been observed that 70% (28/40) of them had periodontal disease, mostly females, aged between 0 and 5 years and domiciled, totaling 30% (12/40).

Keywords: felines, oral cavity, oral exam, periodontal disease

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Authors: Farahnaz Amini, Woo Yun Kin, Lazwani Kolandaiveloo

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Availability of different genetic tests after completion of Human Genome Project increases the physicians’ responsibility to keep themselves update on the potential implementation of these genetic tests in their daily practice. However, due to numbers of barriers, still many of physicians are not either aware of these tests or are not willing to offer or refer their patients for genetic tests. This study was conducted an anonymous, cross-sectional, mailed-based survey to develop a primary data of Malaysian physicians’ level of knowledge and perception of gene profiling. Questionnaire had 29 questions. Total scores on selected questions were used to assess the level of knowledge. The highest possible score was 11. Descriptive statistics, one way ANOVA and chi-squared test was used for statistical analysis. Sixty three completed questionnaires was returned by 27 general practitioners (GPs) and 36 medical specialists. Responders’ age range from 24 to 55 years old (mean 30.2 ± 6.4). About 40% of the participants rated themselves as having poor level of knowledge in genetics in general whilst 60% believed that they have fair level of knowledge. However, almost half (46%) of the respondents felt that they were not knowledgeable about available genetic tests. A majority (94%) of the responders were not aware of any lab or company which is offering gene profiling services in Malaysia. Only 4% of participants were aware of using gene profiling for detection of dosage of some drugs. Respondents perceived greater utility of gene profiling for breast cancer (38%) compared to the colorectal familial cancer (3%). The score of knowledge ranged from 2 to 8 (mean 4.38 ± 1.67). Non-significant differences between score of knowledge of GPs and specialists were observed, with score of 4.19 and 4.58 respectively. There was no significant association between any demographic factors and level of knowledge. However, those who graduated between years 2001 to 2005 had higher level of knowledge. Overall, 83% of participants showed relatively high level of perception on value of gene profiling to detect patient’s risk of disease. However, low perception was observed for both statements of using gene profiling for general population in order to alter their lifestyle (25%) as well as having the full sequence of a patient genome for the purpose of determining a patient’s best match for treatment (18%). The lack of clinical guidelines, limited provider knowledge and awareness, lack of time and resources to educate patients, lack of evidence-based clinical information and cost of tests were the most barriers of ordering gene profiling mentioned by physicians. In conclusion Malaysian physicians who participate in this study had mediocre level of knowledge and awareness in gene profiling. The low exposure to the genetic questions and problems might be a key predictor of lack of awareness and knowledge on available genetic tests. Educational and training workshop might be useful in helping Malaysian physicians incorporate genetic profiling into practice for eligible patients.

Keywords: gene profiling, knowledge, Malaysia, physician

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Authors: A. Al Yousef, A. Toulon, L. Petit, S. Fraitag, F. Ruemmele, S. Hadj-Rabia, C. Bodemer

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Cutaneous Crohn’s disease (CCD) refers to an extremely rare granulomatous inflammation of the skin that is non-contiguous to the bowel tract. These cutaneous lesions can occur prior to, concurrent with, or after the gastrointestinal manifestations. In adults, CCD most frequently occurs in the setting of well-documented intestinal disease. Only 20% of cases occur prior to its development. Review of CCD in children, reveals that 86% of cases (24 of 28) occurring in patients without a known diagnosis of intestinal Crohn’s disease. Overall, the genitalia was the most commonly involved location, representing 21 of the 28 cases with 16 vulvar and 5 penile/scrotal lesions.

Keywords: Crohn’s disease, cutaneous manifestations, children, atypical axillary involvement

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Authors: Soumaya Sallem, Marc Olivas

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This contribution presents a method for detecting, locating, and characterizing soft faults in a complex wired network. The proposed method is based on multi-carrier reflectometry MCTDR (Multi-Carrier Time Domain Reflectometry) combined with a multi-objective genetic algorithm. In order to ensure complete network coverage and eliminate diagnosis ambiguities, the MCTDR test signal is injected at several points on the network, and the data is merged between different reflectometers (sensors) distributed on the network. An adapted multi-objective genetic algorithm is used to merge data in order to obtain more accurate faults location and characterization. The proposed method performances are evaluated from numerical and experimental results.

Keywords: wired network, reflectometry, network distributed diagnosis, multi-objective genetic algorithm

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Authors: Terence Soule, Tami Al Ghamdi

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To study how the partial knowledge transfer may affect the Genetic Algorithm (GA) performance, we model the Transfer Learning (TL) process using GA as the model solver. The objective of the TL is to transfer the knowledge from one problem to another related problem. This process imitates how humans think in their daily life. In this paper, we proposed to study a case where the knowledge transferred from the S problem has less information than what the T problem needs. We sampled the transferred population using different strategies of TL. The results showed transfer part of the knowledge is helpful and speeds the GA process of finding a solution to the problem.

Keywords: transfer learning, partial transfer, evolutionary computation, genetic algorithm

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Authors: Moheb R. Girgis, Tarek M. Mahmoud, Bahgat A. Abdullatif, Ahmed M. Rabie

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Mesh clients, mesh routers and gateways are components of Wireless Mesh Network (WMN). In WMN, gateways connect to Internet using wireline links and supply Internet access services for users. We usually need multiple gateways, which takes time and costs a lot of money set up, due to the limited wireless channel bit rate. WMN is a highly developed technology that offers to end users a wireless broadband access. It offers a high degree of flexibility contrasted to conventional networks; however, this attribute comes at the expense of a more complex construction. Therefore, a challenge is the planning and optimization of WMNs. In this paper, we concentrate on this challenge using a genetic algorithm and simulated annealing. The genetic algorithm and simulated annealing enable searching for a low-cost WMN configuration with constraints and determine the number of used gateways. Experimental results proved that the performance of the genetic algorithm and simulated annealing in minimizing WMN network costs while satisfying quality of service. The proposed models are presented to significantly outperform the existing solutions.

Keywords: wireless mesh networks, genetic algorithms, simulated annealing, topology design

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Authors: J. G. Batista, T. S. Santiago, E. A. Ribeiro, G. A. P. Thé

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This work deals with parameter identification of permanent magnet motors, a class of ac motor which is particularly important in industrial automation due to characteristics like applications high performance, are very attractive for applications with limited space and reducing the need to eliminate because they have reduced size and volume and can operate in a wide speed range, without independent ventilation. By using experimental data and genetic algorithm we have been able to extract values for both the motor inductance and the electromechanical coupling constant, which are then compared to measure and/or expected values.

Keywords: modeling, AC servomotor, permanent magnet synchronous motor-PMSM, genetic algorithm, vector control, robotic manipulator, control

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Authors: Subramaniam Iyer

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The most common disease that is pertaining to all human beings is heart-related. The reasons for coronary artery disease are due to lifestyle and eating habits. Due to this, many people mentally become sick, feeling that soon they will die due to their heart problems. This results in stress and anxiety, which has become common amongst all the Indians. Medicines are the commonest curative remedy in India, but it is proposed through this article some remedies through yoga. This article does not guarantee a 100% result, but it is a preventive remedy for coronary artery disease. Yoga is giving a new lease of life to many, so to tackle chronic diseases, it provides remedies that will be lifelong. It is brought to many people by Patanjali. Yoga will provide support to patients having coronary artery disease through its various relevant postures (asanas), which can be done very easily. Yoga does not send a message that if you do it regularly, you will be relieved from a particular disease. If it is performed every day, it will add vital energy for a smooth life, even if you are suffering from any chronic disease. In this article, we will be providing 6 postures (asanas), which can be performed at any time in the day, but the early morning will always be preferred (empty stomach) to get a good result. Secondly, these postures must be implemented after due consultation with your physician. If your physician disapproves, don’t do these postures as it will be harmful to your body.

Keywords: coronary artery, yoga, disease, remedy, medicine

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Authors: Mehdi Rostamzadeh

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Genetic Algorithms (GAs) are an adaptive heuristic search algorithm premised on the evolutionary ideas of natural selection and genetic. In this study, we apply GAs for fundamental and technical models of exchange rate determination in exchange rate market. In this framework, we estimated absolute and relative purchasing power parity, Mundell-Fleming, sticky and flexible prices (monetary models), equilibrium exchange rate and portfolio balance model as fundamental models and Auto Regressive (AR), Moving Average (MA), Auto-Regressive with Moving Average (ARMA) and Mean Reversion (MR) as technical models for Iranian Rial against European Union’s Euro using monthly data from January 1992 to December 2014. Then, we put these models into the genetic algorithm system for measuring their optimal weight for each model. These optimal weights have been measured according to four criteria i.e. R-Squared (R2), mean square error (MSE), mean absolute percentage error (MAPE) and root mean square error (RMSE).Based on obtained Results, it seems that for explaining of Iranian Rial against EU Euro exchange rate behavior, fundamental models are better than technical models.

Keywords: exchange rate, genetic algorithm, fundamental models, technical models

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Authors: M. A. Rubio, A. Urquia

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Genetic algorithms (GA) are applied to the solution of high-dimensional optimization problems. Additionally, sensitivity analysis (SA) is usually carried out to determine the effect on optimal solutions of changes in parameter values of the objective function. These two analyses (i.e., optimization and sensitivity analysis) are computationally intensive when applied to high-dimensional functions. The approach presented in this paper consists in performing the SA during the GA execution, by statistically analyzing the data obtained of running the GA. The advantage is that in this case SA does not involve making additional evaluations of the objective function and, consequently, this proposed approach requires less computational effort than conducting optimization and SA in two consecutive steps.

Keywords: optimization, sensitivity, genetic algorithms, model calibration

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Authors: Habu Musa, Nusaibah Binti Syd Ali

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Oil palm industries particularly in Malaysia and Indonesia are being devastated by Ganoderma disease caused by Ganoderma spp. To date, this disease has been causing serious oil palm yield losses and collapse of oil palm trees, thus affecting its contribution to the producer’s economy. Research on sustainable and eco-friendly remedy to counter Ganoderma disease is on the upsurge to avoid the current control measures via synthetic fungicides. Trichoderma species have been the most studied and valued microbes as biological control agents in an effort to combat a wide range of plant diseases sustainably. Therefore, in this current study, the potential of Trichoderma spp. (Trichoderma asperellum, Trichoderma harzianum, and Trichoderma virens) as a consortium approach was evaluated as biological control agents against Ganoderma disease on oil palm. The consortium of Trichoderma spp. applied found to be the most effective treatment in suppressing Ganoderma disease with 83.03% and 89.16% from the foliar and bole symptoms respectively. Besides, it exhibited tremendous enhancement in the oil palm seedling vegetative growth parameters. Also, it had highly induced significant activity of peroxidase, polyphenol oxidase and total phenolic content was recorded in the consortium treatment compared to the control treatment. Disease development was slower in the seedlings treated with consortium of Trichoderma spp. compared to the positive control, which exhibited with the highest percentage of disease severity.

Keywords: biological control, ganoderma disease, trichoderma, disease severity

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Authors: Dilani Wimalasiri, Robert Brkljaca, Sylvia Urban, Terrence Piva, Tien Huynh

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Momordica cochinchinensis (Cucurbitaceae) is used as food and traditional medicine in South East Asia and is commonly known as Red Gac. The fruit aril consists 70 times higher lycopene and 10 times higher β-carotene than all known fruits and vegetables. Despite its nutritional value there is little information available on its genetic variation and its influence on nutritional value. In this study; genetic and nutritional variation (lycopene and β-carotene) was investigated among 47 M. cochinchinensis samples collected from Australia, Thailand and Vietnam using molecular markers (RAPD and ISSR) and HPLC, respectively. UPGMA based cluster analysis of genetic data grouped Northern and Central Vietnam samples together but were separated from Australia, Thailand and Southern Vietnam samples. The concentration of lycopene was significantly higher among the samples collected from Central Vietnam (p<0.05) and the concentration of β-carotene was significantly higher among the samples collected from Northern Vietnam (p<0.05) indicating the existence of best varieties. This study provides vital information in genetic diversity and facilitates the selection and breeding for nutritious M. cochinchinensis varieties.

Keywords: momordica cochinchinensis, lycopene, beta carotene, genetic diversity

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Authors: Zia Amjad, Salem S. Alghamdi

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This experiment was carried out at student educational farm College of Food and Agriculture, KSU, kingdom of Saudi Arabia; in order to characterize 154 V. faba accessions based on UPOV and IBPGR descriptors. 24 agro-morphological characters including 11 quantitative and 13 qualitative were observed for genetic variation. All the results were analyzed using multivariate analysis i.e. principle component analysis (PCA). First six principle components (PC) had Eigen-value greater than one; accounted for 72% of available V. faba genetic diversity. However first three components revealed more than 10% of genetic diversity each i.e. 22.36%, 15.86% and 10.89% respectively. PCA distributed the V. faba accessions into different groups based on their performance for the characters under observation. PC-1 which represented 22.36% of the genetic diversity was positively associated with stipule spot pigmentation, intensity of streaks, pod degree of curvature and to some extent with 100 seed weight. PC-2 covered 15.86 of the genetic diversity and showed positive association for average seed weight per plant, pod length, number of seeds per plant, 100 seed weight, stipule spot pigmentation, intensity of streaks (same as in PC-1) and to some extent for pod degree of curvature and number of pods per plant. PC-3 revealed 10.89% of genetic diversity and expressed positive association for number of pods per plant and number of leaflets per plant.

Keywords: agro morphological characterization, diversity, vicia faba, PCA

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Authors: Qazi Salman Khalid, Muhammad Khalid, Shahid Maqsood

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This paper presents a solution for optimizing the cycle time in an assembly line with human-robot collaboration and diverse operators. A genetic algorithm with tailored parameters is used to address the assembly line balancing problem in the automobile sector. A mathematical model is developed, depicting the problem. Currently, the firm runs on the largest candidate rule; however, it causes a lag in orders, which ultimately gets penalized. The results of the study show that the proposed GA is effective in providing efficient solutions and that the cycle time has significantly impacted productivity.

Keywords: line balancing, cycle time, genetic algorithm, productivity

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Authors: Bajraktarevic Adnan, Djukic Branka, Sporisevic Lutvo, Krdzalic Zecevic Belma, Uzicanin Sajra, Hadzimuratovic Admir, Hadzimuratovic Hadzipasic Emina, Abduzaimovic Alisa, Kustric Amer, Suljevic Ismet, Serafi Ismail, Tahmiscija Indira, Khatib Hakam, Semic Jusufagic Aida, Haas Helmut, Vladicic Aleksandra, Aplenc Richard, Kadic Deovic Aida

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Introduction: Joubert syndrome has an autosomal recessive pattern of inheritance. It is referred as the brain malfunctioning and caused due to the underdevelopment of the cerebellar vermis. Associated conditions involving the eye, the kidney, and ocular disease are well described. Aims: Research helps us better understand this diseases, Joubert syndrome and can lead to advances in diagnosis and treatment. Methods: Different several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome in ten different places in the world. Carrier testing and diagnosis are available if one of these gene mutations has been identified in an affected family member. Results: Authors have described eleven cases during twenty years of Joubert syndrome. It is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic molar tooth sign, and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. We made confirmation of diagnosis in twin sisters with Joubert syndrome with renal anomalies. Ocular symptoms have existed in seven cases (63.64%) from total eleven. Eleven cases were different sex, five boys (45.45%) and six girls (54.44%). Conclusions: Joubert syndrome is inherited as an autosomal recessive genetic disorder with several features of the disease.

Keywords: Joubert syndrome, cerebellooculorenal syndrome, autosomal recessive genetic disorder (ARGD), children

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Authors: Asho Ali

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Tuberculosis is a disease of grave concern which infects one-third of the global population. The high incidence of tuberculosis is further compounded by the increasing emergence of drug resistant strains including multi drug resistant (MDR). Global incidence MDR-TB is ~4%. Molecular epidemiological studies, based on the assumption that patients infected with clustered strains are epidemiologically linked, have helped understand the transmission dynamics of disease. It has also helped to investigate the basis of variation in Mycobacterium tuberculosis (MTB) strains, differences in transmission, and severity of disease or drug resistance mechanisms from across the globe. This has helped in developing strategies for the treatment and prevention of the disease including MDR.

Keywords: Mycobcaterium tuberculosis, molecular epidemiology, drug resistance, disease

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Authors: Deepak Loura

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Production and productivity of several crops in the country continue to be adversely affected by biotic (e.g., Insect-pests and diseases) and abiotic (e.g., water temperature and salinity) stresses. Over-dependence on pesticides and other chemicals is economically non-viable for the resource-poor farmers of our country. Further, pesticides can potentially affect human and environmental safety. While traditional breeding techniques and proper- management strategies continue to play a vital role in crop improvement, we need to judiciously use biotechnology approaches for the development of genetically modified crops addressing critical problems in the improvement of crop plants for sustainable agriculture. Modern biotechnology can help to increase crop production, reduce farming costs, and improve food quality and the safety of the environment. Genetic engineering is a new technology which allows plant breeders to produce plants with new gene combinations by genetic transformation of crop plants for improvement of agronomic traits. Advances in recombinant DNA technology have made it possible to have genes between widely divergent species to develop genetically modified or genetically engineered plants. Plant genetic engineering provides the strength to harness useful genes and alleles from indigenous microorganisms to enrich the gene pool for developing genetically modified (GM) crops that will have inbuilt (inherent) resistance to insect pests, diseases, and abiotic stresses. Plant biotechnology has made significant contributions in the past 20 years in the development of genetically engineered or genetically modified crops with multiple benefits. A variety of traits have been introduced in genetically engineered crops which include (i) herbicide resistance. (ii) pest resistance, (iii) viral resistance, (iv) slow ripening of fruits and vegetables, (v) fungal and bacterial resistance, (vi) abiotic stress tolerance (drought, salinity, temperature, flooding, etc.). (vii) quality improvement (starch, protein, and oil), (viii) value addition (vitamins, micro, and macro elements), (ix) pharmaceutical and therapeutic proteins, and (x) edible vaccines, etc. Multiple genes in transgenic crops can be useful in developing durable disease resistance and a broad insect-control spectrum and could lead to potential cost-saving advantages for farmers. The development of transgenic to produce high-value pharmaceuticals and the edible vaccine is also under progress, which requires much more research and development work before commercially viable products will be available. In addition, molecular-aided selection (MAS) is now routinely used to enhance the speed and precision of plant breeding. Newer technologies need to be developed and deployed for enhancing and sustaining agricultural productivity. There is a need to optimize the use of biotechnology in conjunction with conventional technologies to achieve higher productivity with fewer resources. Therefore, genetic modification/ engineering of crop plants assumes greater importance, which demands the development and adoption of newer technology for the genetic improvement of crops for increasing crop productivity.

Keywords: biotechnology, plant genetic engineering, genetically modified, biotic, abiotic, disease resistance

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Authors: Shalini Tripathi, Pardeep Kumar

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The method of translating observed symptoms into disease names is known as disease diagnosis. The ability to solve clinical problems in a complex manner is critical to a doctor's effectiveness in providing health care. The accuracy of his or her expertise is crucial to the survival and well-being of his or her patients. Artificial Intelligence (AI) has a huge economic influence depending on how well it is applied. In the medical sector, human brain-simulated intellect can help not only with classification accuracy, but also with reducing diagnostic time, cost and pain associated with pathologies tests. In light of AI's present and prospective applications in the biomedical, we will identify them in the paper based on potential benefits and risks, social and ethical consequences and issues that might be contentious but have not been thoroughly discussed in publications and literature. Current apps, personal tracking tools, genetic tests and editing programmes, customizable models, web environments, virtual reality (VR) technologies and surgical robotics will all be investigated in this study. While AI holds a lot of potential in medical diagnostics, it is still a very new method, and many clinicians are uncertain about its reliability, specificity and how it can be integrated into clinical practice without jeopardising clinical expertise. To validate their effectiveness, more systemic refinement of these implementations, as well as training of physicians and healthcare facilities on how to effectively incorporate these strategies into clinical practice, will be needed.

Keywords: Artificial Intelligence, medical diagnosis, virtual reality, healthcare ethical implications 

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Authors: Elsheikh Asser

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Time and cost are the main goals of the construction project management. The first schedule developed may not be a suitable schedule for beginning or completing the project to achieve the target completion time at a minimum total cost. In general, there are trade-offs between time and cost (TCT) to complete the activities of a project. This research presents genetic algorithms (GAs) multi-objective model for project scheduling considering different scenarios such as least cost, least time, and target time.

Keywords: genetic algorithms, time-cost trade-off, multi-objective model, project scheduling

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Authors: Stephanie Newman

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Niemann-Pick Type C disease is a rare, usually fatal lysosomal storage disorder. Although clinically characterized by progressive neurodegeneration, there is also evidence of altered innate immune responses such as neuroinflammation that promote disease progression. We have initiated an investigation into whether phagocytosis, an important innate immune activity and the process by which particles are ingested is defective in NPC. Using an in vitro assay, we have shown that NPC macrophages have a deficiency in the phagocytosis of different particles. We plan to investigate the mechanistic basis for impaired phagocytosis, the contribution that this deficiency makes to disease pathology, and whether therapies that have shown in vivo benefit are able to restore phagocytic activity.

Keywords: Niemann Pick Disease C, phagocytosis, innate immunity, lysosomal storage disorder

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Authors: Faruk Emir, Simel Ayyıldız, Cem Şahin

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Behçet’s disease or Behçet’s syndrome is a chronic and multi-systemic inflammatory disease of unknown cause. This syndrome often presents with mucous membrane ulceration and ocular problems. As a systemic disease Behcet includes triple-symptom complex of recurrent oral aphthous ulcers, genital ulcers, and uveitis. Nearly all patients present with some form of painful oral mucocutaneous ulcerations in the form of aphthous ulcers. The aim of the treatment plan for Behçet’s Disease patients is to eliminate oral problems and increase the patient comfort.This clinical report represents the prosthodontic rehabilitation of Behcet’s disease patients mandibular total edentulism with the use of implant supported prosthesis that planned on custom abutments and bar retainers via CAD/CAM technology and patient satisfaction has been achieved in function and aesthetics.

Keywords: Behçet’s disease, CAD/CAM, custom-made manufacturing, titanium milled bar retainer

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Authors: Praveen S. Muthukumarana, Achala C. Aponso

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A large percentage of global crop harvest is lost due to crop diseases. Timely identification and treatment of crop diseases is difficult in many developing nations due to insufficient trained professionals in the field of agriculture. Many crop diseases can be accurately diagnosed by visual symptoms. In the past decade, deep learning has been successfully utilized in domains such as healthcare but adoption in agriculture for plant disease detection is rare. The literature shows that models trained with popular datasets such as PlantVillage does not generalize well on real world images. This paper attempts to find out how to make plant disease identification models that generalize well with real world images.

Keywords: agriculture, convolutional neural network, deep learning, plant disease classification, plant disease detection, plant disease diagnosis

Procedia PDF Downloads 100

Authors: Zia Amjad, Salem Safar Alghamdi

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This experiment was carried out at student educational farm College of Food and Agriculture, KSU, kingdom of Saudi Arabia; in order to characterize 154 Vicia faba, characterization, PCA, ago-morphological diversity. Icia faba L. accessions were based on ipove and ibpgr descriptors. 24 agro-morphological characters including 11 quantitative and 13 qualitative were observed for genetic variation. All the results were analyzed using multivariate analysis i.e. principle component analysis. First 6 principle components with eigenvalue greater than one; accounted for 72% of available Vicia faba genetic diversity. However, first three components revealed more than 10% of genetic diversity each i.e. 22.36%, 15.86%, and 10.89% respectively. PCA distributed the V. faba accessions into different groups based on their performance for the characters under observation. PC-1 which represented 22.36% of the genetic diversity was positively associated with stipule spot pigmentation, intensity of streaks, pod degree of curvature and to some extent with 100 seed weight. PC-2 covered 15.86 of the genetic diversity and showed positive association for average seed weight per plant, pod length, number of seeds per plant, 100 seed weight, stipule spot pigmentation, intensity of streaks (same as in PC-1), and to some extent for pod degree of curvature and number of pods per plant. PC-3 revealed 10.89% of genetic diversity and expressed positive association for number of pods per plant and number of leaflets per plant.

Keywords: Vicia faba, characterization, PCA, ago-morphological diversity

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Authors: Elda Maraj, Shkelqim Kuka

Abstract:

Coronary heart disease causes many deaths in the world. Unfortunately, this problem will continue to increase in the future. In this paper, a fuzzy logic model to predict coronary heart disease is presented. This model has been developed with seven input variables and one output variable that was implemented for 30 patients in Albania. Here fuzzy logic toolbox of MATLAB is used. Fuzzy model inputs are considered as cholesterol, blood pressure, physical activity, age, BMI, smoking, and diabetes, whereas the output is the disease classification. The fuzzy sets and membership functions are chosen in an appropriate manner. Centroid method is used for defuzzification. The database is taken from University Hospital Center "Mother Teresa" in Tirana, Albania.

Keywords: coronary heart disease, fuzzy logic toolbox, membership function, prediction model

Procedia PDF Downloads 117

Authors: M. G. Gopisankar, A. Surendiran, M. Hemachandren

Abstract:

The dose requirement of warfarin to achieve target INR range varies in patients with prosthetic heart valve. This variation in is affected by both genetic and non-genetic factors. Earlier studies have identified role of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirement. Warfarin being a substrate for drug transporter, P-glycoprotein coded by ABCB1 gene, may also be influenced by its genetic polymorphisms. This study was aimed to study the effect of single nucleotide polymorphism (SNP), ABCB1 2677G > T on warfarin maintenance dose requirement in patients with steady-state International Normalized Ratio (INR). The median dose requirement was significantly different between the genotype groups GG vs. GT (35 ± 20; 42.5 ± 18, p < 0.05), GG vs. TT (35 ± 20; 41.25 ± 25, p<0.05). There was no significant difference between GT vs. TT. In conclusion, patients with variant allele require a higher weekly maintenance dose of warfarin compared to patients without variant allele.

Keywords: warfarin pharamcogenetics, pharmacogenomics of warfarin, ABCB1 and warfarin, pglycoprotein and warfarin

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Authors: Muhammad Asim Nazir

Abstract:

The investigations reported in this manuscript were carried on the screening of one hundred and seventy-eight chickpea germplasm lines/cultivars against wilt disease, caused by Fusarium oxysporum f. sp. ciceris. The screening was conducted in vivo (field) conditions. The field screening was accompanied with the study of some epidemiological factors affecting the occurrence and severity of the disease. Among the epidemiological factors maximum temperature range (28-40°C), minimum temperature range (12-24°C), relative humidity (19-44%), soil temperature (26-41°C) and soil moisture range (19-34°C) was studied for affecting the disease incidence/severity. The results revealed that air temperature was positively correlated with diseases. Soil temperature data revealed that in all cultivars disease incidence was maximum as 39°C. Most of the plants show 40-50% disease incidence. Disease incidence decreased at 33.5°C. The result of correlation of relative humidity of air and wilt incidence revealed that all cultivars/lines were negatively correlated with relative humidity. With increasing relative humidity wilt incidence decreased and vice versa.

Keywords: chickpea, epidemiological, screening, disease

Procedia PDF Downloads 606

Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le, Chi V. Phan

Abstract:

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

Keywords: ATP7B gene, mutation detection, presymptomatic diagnosis, Vietnamese Wilson’s disease

Procedia PDF Downloads 345