Search results for: genetic disease management
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 13512

Search results for: genetic disease management

13422 Genetic Variation of Autosomal STR Loci from Unrelated Individual in Iraq

Authors: H. Imad, Q. Cheah, J. Mohammad, O. Aamera

Abstract:

The aim of this study is twofold. One is to determine the genetic structure of Iraq population and the second objective of the study was to evaluate the importance of these loci for forensic genetic purposes. FTA® Technology (FTA™ paper DNA extraction) utilized to extract DNA. Twenty STR loci and Amelogenin including D3S1358, D13S317, PentaE, D16S539, D18S51, D2S1338, CSF1PO, Penta D, THO1, vWA, D21S11, D7S820, TPOX, D8S1179, FGA, D2S1338, D5S818, D6S1043, D12S391, D19S433, and Amelogenin amplified by using power plex21® kit. PCR products detected by genetic analyzer 3730xL then data analyzed by PowerStatsV1.2. Based on the allelic frequencies, several statistical parameters of genetic and forensic efficiency have been estimated. This includes the homozygosity and heterozygosity, effective number of alleles (n), the polymorphism information content (PIC), the power of discrimination (DP), and the power of exclusion (PE). The power of discrimination values for all tested loci was from 75% to 96% therefore, those loci can be safely used to establish a DNA-based database for Iraq population.

Keywords: autosomal STR, genetic variation, Middle and South of Iraq, statistical parameters

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13421 Wheat Dihaploid and Somaclonal Lines Screening for Resistance to P. nodorum

Authors: Lidia Kowalska, Edward Arseniuk

Abstract:

Glume and leaf blotch is a disease of wheat caused by necrotrophic fungus Parastagonospora nodorum. It is a serious pathogen in many wheat-growing areas throughout the world. Use of resistant cultivars is the most effective and economical means to control the above-mentioned disease. Plant breeders and pathologists have worked intensively to incorporate resistance to the pathogen in new cultivars. Conventional methods of breeding for resistance can be supported by using the biotechnological ones, i.e., somatic embryogenesis and androgenesis. Therefore, an effort was undertaken to compare genetic variation in P. nodorum resistance among winter wheat somaclones, dihaploids and conventional varieties. For the purpose, a population of 16 somaclonal and 4 dihaploid wheat lines from six crosses were used to assess their resistance to P. nodorum under field conditions. Lines were grown in disease-free (fungicide protected) and inoculated micro plots in 2 replications of a split-plot design in a single environment. The plant leaves were inoculated with a mixture of P. nodorum isolates three times. Spore concentrations were adjusted to 4 x 10⁶ of viable spores per one milliliter. The disease severity was rated on a scale, where > 90% – susceptible, < 10% - resistant. Disease ratings of plant leaves showed statistically significant differences among all lines tested. Higher resistance to P. nodorum was observed more often on leaves of somaclonal lines than on dihaploid ones. On average, disease, severity reached 15% on leaves of somaclones and 30% on leaves of dihaploids. Some of the genotypes were showing low leaf infection, e.g. dihaploid D-33 (disease severity 4%) and a somaclone S-1 (disease severity 2%). The results from this study prove that dihaploid and somaclonal variation might be successfully used as an additional source of wheat resistance to the pathogen and it could be recommended to use in commercial breeding programs. The reported results prove that biotechnological methods may effectively be used in breeding for disease resistance of wheat to fungal necrotrophic pathogens.

Keywords: glume and leaf blotch, somaclonal, androgenic variation, wheat, resistance breeding

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13420 Assessment of Genetic Diversity of Iranian Purslane (Portulaca Oleracea L.) Accessions Using ISSR Makers

Authors: Mehdi Mohebodini, Iman Khalili-Baseri, Mehdi Behnamian, Sara Dezhsetan

Abstract:

Diversity analysis at the molecular level using PCR-based markers is the efficient and rapid method of identifying the relationships and differences among the genotypes. In the present study, genetic diversity and relationships among 20 collected purslane accessions were evaluated using ISSR markers. The genotyping data were used to understand the relationships among the collected accessions and identify genetically diverse purslane accessions. The 25 primers gave a total of 92 bands, of which 62 were polymorphic (67.4%). The genetic diversity as estimated by Shannon’s information index was 0.55, revealing a quite high level of genetic diversity in the germplasm. The average number of an observed allele, effective allele, polymorphic information content (PIC) and Nei’s index were 2, 1.65, 0.37 and 0.37, respectively.

Keywords: Portulaca oleracea L., genetic diversity, ISSR, germplasm

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13419 Genetic and Non-Genetic Factors Affecting the Response to Clopidogrel Therapy

Authors: Snezana Mugosa, Zoran Todorovic, Zoran Bukumiric, Ivan Radosavljevic, Natasa Djordjevic

Abstract:

Introduction: Various studies have shown that the frequency of clopidogrel resistance ranges from 4-40%. The aim of this study was to provide in depth analysis of genetic and non-genetic factors that influence clopidogrel resistance in cardiology patients. Methods: We have conducted a prospective study in 200 hospitalized patients hospitalized at Cardiology Centre of the Clinical Centre of Montenegro. CYP2C19 genetic testing was conducted, and the PREDICT score was calculated in 102 out of 200 patients treated with clopidogrel in order to determine the influence of genetic and non-genetic factors on outcomes of interest. Adverse cardiovascular events and adverse reactions to clopidogrel were assessed during 12 months follow up period. Results: PREDICT score and CYP2C19 enzymatic activity were found to be statistically significant predictors of expressing lack of therapeutic efficacy of clopidogrel by multivariate logistic regression, without multicollinearity or interaction between the predictors (p = 0.002 and 0.009, respectively). Conclusions: Pharmacogenetics analyses that were done in the Montenegrin population of patients for the first time suggest that these analyses can predict patient response to the certain therapy. Stepwise approach could be used in assessing the clopidogrel resistance in cardiology patients, combining the PREDICT score, platelet aggregation test, and genetic testing for CYP2C19 polymorphism.

Keywords: clopidogrel, pharmacogenetics, pharmacotherapy, PREDICT score

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13418 THRAP2 Gene Identified as a Candidate Susceptibility Gene of Thyroid Autoimmune Diseases Pedigree in Tunisian Population

Authors: Ghazi Chabchoub, Mouna Feki, Mohamed Abid, Hammadi Ayadi

Abstract:

Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), are inherited as complex traits. Genetic factors associated with AITDs have been tentatively identified by candidate gene and genome scanning approaches. We analysed three intragenic microsatellite markers in the thyroid hormone receptor associated protein 2 gene (THRAP2), mapped near D12S79 marker, which have a potential role in immune function and inflammation [THRAP2-1(TG)n, THRAP2-2 (AC)n and THRAP2-3 (AC)n]. Our study population concerned 12 patients affected with AITDs belonging to a multiplex Tunisian family with high prevalence of AITDs. Fluorescent genotyping was carried out on ABI 3100 sequencers (Applied Biosystems USA) with the use of GENESCAN for semi-automated fragment sizing and GENOTYPER peak-calling software. Statistical analysis was performed using the non parametric Lod score (NPL) by Merlin software. Merlin outputs non-parametric NPLall (Z) and LOD scores and their corresponding asymptotic P values. The analysis for three intragenic markers in the THRAP2 gene revealed strong evidence for linkage (NPL=3.68, P=0.00012). Our results suggested the possible role of THRAP2 gene in AITDs susceptibility in this family.

Keywords: autoimmunity, autoimmune disease, genetic, linkage analysis

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13417 Susceptibility Assessment and Genetic Diversity of Iranian and CIMMYT Wheat Genotypes to Common Root Rot Disease Bipolaris sorokiniana

Authors: Mehdi Nasr Esfahani, Abdal-Rasool Gholamalian, Abdelfattah A. Dababat

Abstract:

Wheat, Triticum aestivum L. is one of the most important and strategic crops in the human diet. Several diseases threaten this particular crop. Common root rot disease of wheat by a fungal agent, Bipolaris sorokiniana is one of the important diseases, causing considerable losses worldwide. Resistant sources are the only feasible and effective method of control for managing diseases. In this study, the response of 33 domestic and exotic wheat genotypes, including cultivars and promising lines were screened to B. sorokiniana at greenhouse and field conditions, based on five scoring scale indexes of 0 to 100 severity percentage. The screening was continued on resistant wheat genotypes and repeated several times to confirm the greenhouse and field results. Statistical and cluster analysis of data was performed using SAS and SPSS software, respectively. The results showed that, the response of wheat genotypes to the disease in the greenhouse and field conditions was highly significant. The highest rate of common root rot disease infection, B. sorokiniana in the greenhouse and field, was of CVS. Karkheh and Beck Cross-Roshan with 60.83% and 59.16% disease severity respectively, and the lowest one were in cv. Alvand with 18.33%, followed by cv. Baharan with 19.16% disease severity, with a highly significant difference respectively. The remaining wheat genotypes were located in between these two highest and lowest infected groups to B. sorokiniana significantly. There was a high correlation coefficient between the related statistical groups and cluster analysis.

Keywords: wheat, rot, root, crown, fungus, genotype, resistance

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13416 Genetic Algorithm Optimization of Microcantilever Based Resonator

Authors: Manjula Sutagundar, B. G. Sheeparamatti, D. S. Jangamshetti

Abstract:

Micro Electro Mechanical Systems (MEMS) resonators have shown the potential of replacing quartz crystal technology for sensing and high frequency signal processing applications because of inherent advantages like small size, high quality factor, low cost, compatibility with integrated circuit chips. This paper presents the optimization and modelling and simulation of the optimized micro cantilever resonator. The objective of the work is to optimize the dimensions of a micro cantilever resonator for a specified range of resonant frequency and specific quality factor. Optimization is carried out using genetic algorithm. The genetic algorithm is implemented using MATLAB. The micro cantilever resonator is modelled in CoventorWare using the optimized dimensions obtained from genetic algorithm. The modeled cantilever is analysed for resonance frequency.

Keywords: MEMS resonator, genetic algorithm, modelling and simulation, optimization

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13415 Geographic Legacies for Modern Day Disease Research: Autism Spectrum Disorder as a Case-Control Study

Authors: Rebecca Richards Steed, James Van Derslice, Ken Smith, Richard Medina, Amanda Bakian

Abstract:

Elucidating gene-environment interactions for heritable disease outcomes is an emerging area of disease research, with genetic studies informing hypotheses for environment and gene interactions underlying some of the most confounding diseases of our time, like autism spectrum disorder (ASD). Geography has thus far played a key role in identifying environmental factors contributing to disease, but its use can be broadened to include genetic and environmental factors that have a synergistic effect on disease. Through the use of family pedigrees and disease outcomes with life-course residential histories, space-time clustering of generations at critical developmental windows can provide further understanding of (1) environmental factors that contribute to disease patterns in families, (2) susceptible critical windows of development most impacted by environment, (3) and that are most likely to lead to an ASD diagnosis. This paper introduces a retrospective case-control study that utilizes pedigree data, health data, and residential life-course location points to find space-time clustering of ancestors with a grandchild/child with a clinical diagnosis of ASD. Finding space-time clusters of ancestors at critical developmental windows serves as a proxy for shared environmental exposures. The authors refer to geographic life-course exposures as geographic legacies. Identifying space-time clusters of ancestors creates a bridge for researching exposures of past generations that may impact modern-day progeny health. Results from the space-time cluster analysis show multiple clusters for the maternal and paternal pedigrees. The paternal grandparent pedigree resulted in the most space-time clustering for birth and childhood developmental windows. No statistically significant clustering was found for adolescent years. These results will be further studied to identify the specific share of space-time environmental exposures. In conclusion, this study has found significant space-time clusters of parents, and grandparents for both maternal and paternal lineage. These results will be used to identify what environmental exposures have been shared with family members at critical developmental windows of time, and additional analysis will be applied.

Keywords: family pedigree, environmental exposure, geographic legacy, medical geography, transgenerational inheritance

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13414 Genetic Diversity Analysis in Triticum Aestivum Using Microsatellite Markers

Authors: Prachi Sharma, Mukesh Kumar Rana

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In the present study, the simple sequence repeat(SSR) markers have been used in analysis of genetic diversity of 37 genotypes of Triticum aestivum. The DNA was extracted using cTAB method. The DNA was quantified using the fluorimeter. The annealing temperatures for 27 primer pairs were standardized using gradient PCR, out of which 16 primers gave satisfactory amplification at temperature ranging from 50-62⁰ C. Out of 16 polymorphic SSR markers only 10 SSR primer pairs were used in the study generating 34 reproducible amplicons among 37 genotypes out of which 30 were polymorphic. Primer pairs Xgwm533, Xgwm 160, Xgwm 408, Xgwm 120, Xgwm 186, Xgwm 261 produced maximum percent of polymorphic bands (100%). The bands ranged on an average of 3.4 bands per primer. The genetic relationship was determined using Jaccard pair wise similarity co-efficient and UPGMA cluster analysis with NTSYS Pc.2 software. The values of similarity index range from 0-1. The similarity coefficient ranged from 0.13 to 0.97. A minimum genetic similarity (0.13) was observed between VL 804 and HPW 288, meaning they are only 13% similar. More number of available SSR markers can be useful for supporting the genetic diversity analysis in the above wheat genotypes.

Keywords: wheat, genetic diversity, microsatellite, polymorphism

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13413 Meniere's Disease and its Prevalence, Symptoms, Risk Factors and Associated Treatment Solutions for this Disease

Authors: Amirreza Razzaghipour Sorkhab

Abstract:

One of the most common disorders among humans is hearing impairment. This paper provides an evidence base that recovers understanding of Meniere’s disease and highlights the physical and mental health correlates of the disorder. Meniere's disease is more common in the elderly. The term idiopathic endolymphatic hydrops has been attributed to this disease by some in the previous. Meniere’s disease demonstrations a genetic tendency, and a family history is found in 10% of cases, with an autosomal dominant inheritance pattern. The COCH gene may be one of the hereditary factors contributing to Meniere’s disease, and the possibility of a COCH mutation should be considered in patients with Meniere’s disease symptoms. Should be considered Missense mutations in the COCH gene cause the autosomal dominant sensorineural hearing loss and vestibular disorder. Meniere’s disease is a complex, heterogeneous disorder of the inner ear and that is characterized by episodes of vertigo lasting from minutes to hours, fluctuating sensorineural hearing loss, tinnitus, and aural fullness. The existing evidence supports the suggestion that age and sleep disorder are risk factors for Meniere's disease. Many factors have been reported to precipitate the progress of Menier, including endolymphatic hydrops, immunology, viral infection, inheritance, vestibular migraine, and altered intra-labyrinthine fluid dynamics. Although there is currently no treatment that has a proven helpful effect on hearing levels or on the long-term evolution of the disease, however, in the primary stages, the hearing may improve among attacks, but a permanent hearing loss occurs in the majority of cases. Current publications have proposed a role for the intratympanic use of medicine, mostly aminoglycosides, for the control of vertigo. more than 85% of patients with Meniere's disease are helped by either changes in lifestyle and medical treatment or minimally aggressive surgical procedures such as intratympanic steroid therapy, intratympanic gentamicin therapy, and endolymphatic sac surgery. However, unilateral vestibular extirpation methods (intratympanic gentamicin, vestibular nerve section, or labyrinthectomy) are more predictable but invasive approaches to control the vertigo attacks. Medical therapy aimed at reducing endolymph volume, such as low-sodium diet, diuretic use, is the typical initial treatment.

Keywords: meniere's disease, endolymphatic hydrops, hearing loss, vertigo, tinnitus, COCH gene

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13412 A Genetic Algorithm to Schedule the Flow Shop Problem under Preventive Maintenance Activities

Authors: J. Kaabi, Y. Harrath

Abstract:

This paper studied the flow shop scheduling problem under machine availability constraints. The machines are subject to flexible preventive maintenance activities. The nonresumable scenario for the jobs was considered. That is, when a job is interrupted by an unavailability period of a machine it should be restarted from the beginning. The objective is to minimize the total tardiness time for the jobs and the advance/tardiness for the maintenance activities. To solve the problem, a genetic algorithm was developed and successfully tested and validated on many problem instances. The computational results showed that the new genetic algorithm outperforms another earlier proposed algorithm.

Keywords: flow shop scheduling, genetic algorithm, maintenance, priority rules

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13411 Comparison of Crossover Types to Obtain Optimal Queries Using Adaptive Genetic Algorithm

Authors: Wafa’ Alma'Aitah, Khaled Almakadmeh

Abstract:

this study presents an information retrieval system of using genetic algorithm to increase information retrieval efficiency. Using vector space model, information retrieval is based on the similarity measurement between query and documents. Documents with high similarity to query are judge more relevant to the query and should be retrieved first. Using genetic algorithms, each query is represented by a chromosome; these chromosomes are fed into genetic operator process: selection, crossover, and mutation until an optimized query chromosome is obtained for document retrieval. Results show that information retrieval with adaptive crossover probability and single point type crossover and roulette wheel as selection type give the highest recall. The proposed approach is verified using (242) proceedings abstracts collected from the Saudi Arabian national conference.

Keywords: genetic algorithm, information retrieval, optimal queries, crossover

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13410 Morpho-Genetic Assessment of Guava (Psidium guajava L.) Genetic Resources in Pakistan

Authors: Asim Mehmood, Abdul Karim, Muhammad J. Jaskani, Faisal S. Awan, Muhammad W. Sajid

Abstract:

Guava (Psidium guajava L.) is an important commercial fruit crop of Pakistan. It is an allogamous crop having 25-40% cross pollination which on the one hand leads to clonal degradation and on the other hand can add variations to generated new cultivars. Morpho-genetic characterization of 37 guava accessions was carried out for study of the genetic diversity among guava accessions located in province Punjab, Pakistan. For morphological analysis, 17 morphological traits were studied, and strong positive correlation was found among the 7 morphological traits which included thickness of outer flesh in relation to core diameter, fruit length, fruit width, fruit juiciness, fruit size, fruit sweetness and number of seeds. For genetic characterization, 18 microsatellites were used, and the sizes of reproducible and scorable bands ranged from 150 to 320 bp. These 18 primer pairs amplified a total of 85 alleles in P. guajava, with an average total number of 4.7 alleles per locus and no more than two displayed bands (nuclear SSR loci). The phylogenetic tree based on the morphological and genetic traits showed the diversity of these 37 guava genotypes into two major groups. These results indicated that Pakistani guava is quite diverse and a more detail study is needed to define the level of genetic variability.

Keywords: Psidium guajava L, genetic diversity, SSR markers, polymorphism, dendrogram

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13409 The Impact of a Lower Health Literacy in the Self-Management of Patients with a Multiple Sclerosis: A Literature Review

Authors: Helga Martins, Idália Matias

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Background:Multiple sclerosis is a chronic inflammatory autoimmune demyelinating disease that affects young adults. Multiple sclerosis is a chronic disease in which the patient needs to self-manage the disease and the therapeutic regimen. Consequently, the promotion of health literacy assumes a relevant role for the accessibility, understanding, and use of information in order to promote and maintain the health of patients with multiple sclerosis. Aim: To determine the impact of lower health literacy in the self-management of patients with a multiple sclerosis. Methods: Literature review based on a search on the following electronic databases: CINAHLand MEDLINE; comprising all results published between September 2016 and September 2021. The search strategy was: (“Self-management [MeSH]” AND “Multiple sclerosis[MeSH]”AND “Health literacy[MeSH]”). The inclusion criteria were: original papers reporting about multiple sclerosis patients; participants with age above 18 years old, written in English, Spanish, French, or Portuguese. Two independent reviewers have done the screening and analysis of the results. 38 citations were identified, and after duplicates removal, a total of 25 results were screened; 14 were included after the application of the inclusion criteria. Results: The lower health literacy in the self-management of patients with a multiple sclerosis is related toless healthy choices, riskier health behavior, poor health outcomes, decreased of adhering to the therapeutic regimen after discharge, less self-management of chronic illness, and increased the time of hospitalization. Conclusion: Inadequate levels of health literacy contribute to poor health outcomes, unsuccessful self-management of chronic illness, and inadequate adherence to the therapeutic regimen. Therefore, health literacy is important for health policy and the healthcare services, as it can be understood as a mediator of self-management of multiple sclerosis disease.

Keywords: health literacy, multiple sclerosis, review, self-management

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13408 Data Mining in Healthcare for Predictive Analytics

Authors: Ruzanna Muradyan

Abstract:

Medical data mining is a crucial field in contemporary healthcare that offers cutting-edge tactics with enormous potential to transform patient care. This abstract examines how sophisticated data mining techniques could transform the healthcare industry, with a special focus on how they might improve patient outcomes. Healthcare data repositories have dynamically evolved, producing a rich tapestry of different, multi-dimensional information that includes genetic profiles, lifestyle markers, electronic health records, and more. By utilizing data mining techniques inside this vast library, a variety of prospects for precision medicine, predictive analytics, and insight production become visible. Predictive modeling for illness prediction, risk stratification, and therapy efficacy evaluations are important points of focus. Healthcare providers may use this abundance of data to tailor treatment plans, identify high-risk patient populations, and forecast disease trajectories by applying machine learning algorithms and predictive analytics. Better patient outcomes, more efficient use of resources, and early treatments are made possible by this proactive strategy. Furthermore, data mining techniques act as catalysts to reveal complex relationships between apparently unrelated data pieces, providing enhanced insights into the cause of disease, genetic susceptibilities, and environmental factors. Healthcare practitioners can get practical insights that guide disease prevention, customized patient counseling, and focused therapies by analyzing these associations. The abstract explores the problems and ethical issues that come with using data mining techniques in the healthcare industry. In order to properly use these approaches, it is essential to find a balance between data privacy, security issues, and the interpretability of complex models. Finally, this abstract demonstrates the revolutionary power of modern data mining methodologies in transforming the healthcare sector. Healthcare practitioners and researchers can uncover unique insights, enhance clinical decision-making, and ultimately elevate patient care to unprecedented levels of precision and efficacy by employing cutting-edge methodologies.

Keywords: data mining, healthcare, patient care, predictive analytics, precision medicine, electronic health records, machine learning, predictive modeling, disease prognosis, risk stratification, treatment efficacy, genetic profiles, precision health

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13407 Fahr Dsease vs Fahr Syndrome in the Field of a Case Report

Authors: Angelis P. Barlampas

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Objective: The confusion of terms is a common practice in many situations of the everyday life. But, in some circumstances, such as in medicine, the precise meaning of a word curries a critical role for the health of the patient. Fahr disease and Fahr syndrome are often falsely used interchangeably, but they are two different conditions with different physical histories of different etiology and different medical management. A case of the seldom Fahr disease is presented, and a comparison with the more common Fahr syndrome follows. Materials and method: A 72 years old patient came to the emergency department, complaining of some kind of non specific medal disturbances, like anxiety, difficulty of concentrating, and tremor. The problems had a long course, but he had the impression of getting worse lately, so he decided to check them. Past history and laboratory tests were unremarkable. Then, a computed tomography examination was ordered. Results: The CT exam showed bilateral, hyperattenuating areas of heavy, dense calcium type deposits in basal ganglia, striatum, pallidum, thalami, the dentate nucleus, and the cerebral white matter of frontal, parietal and iniac lobes, as well as small areas of the pons. Taking into account the absence of any known preexisting illness and the fact that the emergency laboratory tests were without findings, a hypothesis of the rare Fahr disease was supposed. The suspicion was confirmed with further, more specific tests, which showed the lack of any other conditions which could probably share the same radiological image. Differentiating between Fahr disease and Fahr syndrome. Fahr disease: Primarily autosomal dominant Symmetrical and bilateral intracranial calcifications The patient is healthy until the middle age Absence of biochemical abnormalities. Family history consistent with autosomal dominant Fahr syndrome :Earlier between 30 to 40 years old. Symmetrical and bilateral intracranial calcifications Endocrinopathies: Idiopathic hypoparathyroidism, secondary hypoparathyroidism, hyperparathyroidism, pseudohypoparathyroidism ,pseudopseudohypoparathyroidism, e.t.c The disease appears at any age There are abnormal laboratory or imaging findings. Conclusion: Fahr disease and Fahr syndrome are not the same illness, although this is not well known to the inexperienced doctors. As clinical radiologists, we have to inform our colleagues that a radiological image, along with the patient's history, probably implies a rare condition and not something more usual and prompt the investigation to the right route. In our case, a genetic test could be done earlier and reveal the problem, and thus avoiding unnecessary and specific tests which cost in time and are uncomfortable to the patient.

Keywords: fahr disease, fahr syndrome, CT, brain calcifications

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13406 Klippel Feil Syndrome: A Case Report and Review of Literature

Authors: Rim Frikha, Nouha Bouayed Abdelmoula, Afifa Sellami, Salima Daoud, Tarek Rebai

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Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion of the cervical spine resulting from faulty segmentation along the embryo's developing axis. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated elucidation of the genetic etiology and management of the syndrome. We report a case of an isolated Klippel-Feil Syndrome with C5-C6 fusion on the cervical spine. It‘s the rarest form of congenital fused cervical vertebrae which is predisposed to the risk of spinal cord injury and neurologic problems. The aim of this paper was to review clinical heterogeneity; radiographic abnormalities and genetic etiology in Klippel-Feil Syndrome. We insist in comprehensive evaluation and delineation of diagnostic and prognostic classes.

Keywords: Klippel–Feil anomaly, genetic, clinical heterogeneity, radiographic abnormalities

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13405 Genetically Engineered Crops: Solution for Biotic and Abiotic Stresses in Crop Production

Authors: Deepak Loura

Abstract:

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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13404 Characterization of Bacteriophage for Biocontrol of Pseudomonas syringae, Causative Agent of Canker in Prunus spp.

Authors: Mojgan Rabiey, Shyamali Roy, Billy Quilty, Ryan Creeth, George Sundin, Robert W. Jackson

Abstract:

Bacterial canker is a major disease of Prunus species such as cherry (Prunus avium). It is caused by Pseudomonas syringae species including P. syringae pv. syringae (Pss) and P. syringae pv. morsprunorum race 1 (Psm1) and race 2 (Psm2). Concerns over the environmental impact of, and developing resistance to, copper controls call for alternative approaches to disease management. One method of control could be achieved using naturally occurring bacteriophage (phage) infective to the bacterial pathogens. Phages were isolated from soil, leaf, and bark of cherry trees in five locations in the South East of England. The phages were assessed for their host range against strains of Pss, Psm1, and Psm2. The phages exhibited a differential ability to infect and lyse different Pss and Psm isolates as well as some other P. syringae pathovars. However, the phages were unable to infect beneficial bacteria such as Pseudomonas fluorescens. A subset of 18 of these phages were further characterised genetically (Random Amplification of Polymorphic DNA-PCR fingerprinting and sequencing) and using electron microscopy. The phages are tentatively identified as belonging to the order Caudovirales and the families Myoviridae, Podoviridae, and Siphoviridae, with genetic material being dsDNA. Future research will fully sequence the phage genomes. The efficacy of the phage, both individually and in cocktails, to reduce disease progression in vivo will be investigated to understand the potential for practical use of these phages as biocontrol agents.

Keywords: bacteriophage, pseudomonas, bacterial cancker, biological control

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13403 Rare Diagnosis in Emergency Room: Moyamoya Disease

Authors: Ecem Deniz Kırkpantur, Ozge Ecmel Onur, Tuba Cimilli Ozturk, Ebru Unal Akoglu

Abstract:

Moyamoya disease is a unique chronic progressive cerebrovascular disease characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. The occurrence of Moyamoya disease is related to immune, genetic and other factors. There is no curative treatment for Moyamoya disease. Secondary prevention for patients with symptomatic Moyamoya disease is largely centered on surgical revascularization techniques. We present here a 62-year old male presented with headache and vision loss for 2 days. He was previously diagnosed with hypertension and glaucoma. On physical examination, left eye movements were restricted medially, both eyes were hyperemic and their movements were painful. Other neurological and physical examination were normal. His vital signs and laboratory results were within normal limits. Computed tomography (CT) showed dilated vascular structures around both lateral ventricles and atherosclerotic changes inside the walls of internal carotid artery (ICA). Magnetic resonance imaging (MRI) and angiography (MRA) revealed dilated venous vascular structures around lateral ventricles and hyper-intense gliosis in periventricular white matter. Ischemic gliosis around the lateral ventricles were present in the Digital Subtracted Angiography (DSA). After the neurology, ophthalmology and neurosurgery consultation, the patient was diagnosed with Moyamoya disease, pulse steroid therapy was started for vision loss, and super-selective DSA was planned for further investigation. Moyamoya disease is a rare condition, but it can be an important cause of stroke in both children and adults. It generally affects anterior circulation, but posterior cerebral circulation may also be affected, as well. In the differential diagnosis of acute vision loss, occipital stroke related to Moyamoya disease should be considered. Direct and indirect surgical revascularization surgeries may be used to effectively revascularize affected brain areas, and have been shown to reduce risk of stroke.

Keywords: headache, Moyamoya disease, stroke, visual loss

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13402 An Optimization Algorithm Based on Dynamic Schema with Dissimilarities and Similarities of Chromosomes

Authors: Radhwan Yousif Sedik Al-Jawadi

Abstract:

Optimization is necessary for finding appropriate solutions to a range of real-life problems. In particular, genetic (or more generally, evolutionary) algorithms have proved very useful in solving many problems for which analytical solutions are not available. In this paper, we present an optimization algorithm called Dynamic Schema with Dissimilarity and Similarity of Chromosomes (DSDSC) which is a variant of the classical genetic algorithm. This approach constructs new chromosomes from a schema and pairs of existing ones by exploring their dissimilarities and similarities. To show the effectiveness of the algorithm, it is tested and compared with the classical GA, on 15 two-dimensional optimization problems taken from literature. We have found that, in most cases, our method is better than the classical genetic algorithm.

Keywords: chromosome injection, dynamic schema, genetic algorithm, similarity and dissimilarity

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13401 Analysis of OPG Gene Polymorphism T245G (rs3134069) in Slovak Postmenopausal Women

Authors: I. Boroňová, J. Bernasovská, J. Kľoc, Z. Tomková, E. Petrejčíková, S. Mačeková, J. Poráčová, M. M. Blaščáková

Abstract:

Osteoporosis is a common multifactorial disease with a strong genetic component characterized by reduced bone mass and increased risk of fractures. Genetic factors play an important role in the pathogenesis of osteoporosis. The aim of our study was to identify the genotype and allele distribution of T245G polymorphism in OPG gene in Slovak postmenopausal women. A total of 200 unrelated Slovak postmenopausal women with diagnosed osteoporosis and 200 normal controls were genotyped for T245G (rs3134069) polymorphism of OPG gene. Genotyping was performed using the Custom Taqman®SNP Genotyping assays. Genotypes and alleles frequencies showed no significant differences (p=0.5551; p=0.6022). The results of the present study confirm the importance of T245G polymorphism in OPG gene in the pathogenesis of osteoporosis.

Keywords: OPG gene, T245G polymorphism, osteoporosis, T245G polymorphism, real-time PCR

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13400 Genetic Structure of Four Bovine Populations in the Philippines Using Microsatellites

Authors: Peter James C. Icalia, Agapita J. Salces, Loida Valenzuela, Kangseok Seo, Geronima Ludan

Abstract:

This study evaluated polymorphism of 11 microsatellite markers in four local genetic groups of cattle. Batanes cattle which has never been studied using microsatellites is evaluated for its genetic distance from the Ilocos cattle while Brahman and Holstein-Sahiwal are also included as there were insemination programs by the government using these two breeds. PCR products that were genotyped for each marker were analyzed using POPGENEv32. Results showed that 55% (Fst=0.5501) of the genetic variation is due to the differences between populations while the remaining 45% is due to individual variation. The Fst value also indicates that there were very great differences from population to population using the range proposed by Sewall and Wright. The constructed phylogenetic tree based on Nei’s genetic distance using the modified neighboor joining procedure of PHYLIPv3.5 showed the admixture of Brahman and Holstein-Sahiwal having them grouped in the same clade. Batanes and Ilocos cattle were grouped in a different cluster showing that they have descended from a single parental population. This would presumably address the claim that Batanes and Ilocos cattle are genetically distant from other groups and still exist despite the artificial insemination program of the government using Brahman and other imported breeds. The knowledge about the genetic structure of this population supports the development of conservation programs for the smallholder farmers.

Keywords: microsatellites, cattle, Philippines, populations, genetic structure

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13399 RNA-seq Analysis of Liver from NASH-HCC Model Mouse Treated with Streptozotocin-High Fat Diet

Authors: Bui Phuong Linh, Yuki Sakakibara, Ryuto Tanaka, Elizabeth H. Pigney, Taishi Hashiguchi

Abstract:

Non-alcoholic steatohepatitis (NASH) is a chronic liver disease, often associated with type II diabetes, which sometimes progresses to more serious conditions such as liver fibrosis and hepatocellular carcinoma (HCC). NASH has become an important health problem worldwide, buttherapeutic agents for NASH have not yet been approved, and animal models with high clinical correlation are required. TheSTAM™ mouse shows the same pathological progression as human NASH patients and has been widely used for both drug efficacy and basic research, such as lipid profiling and gut microbiota research. In this study, we analyzed the RNA-seq data of STAM™mice at each pathological stage (steatosis, steatohepatitis, liver fibrosis, and HCC) and examined the clinical correlation at the genetic level. NASH was induced in male mice by a single subcutaneous injection of 200 µg streptozotocin solution 2 days after birth and feeding with high fat dietafter 4 weeks of age. The mice were sacrificed and livers collected at 6, 8, 10, 12, 16, and 20 weeks of age. For liver samples, the left lateral lobe was snap frozen in liquid nitrogen and stored at -80˚C for RNA-seq analysis. Total RNA of the cells was isolated using RNeasy mini kit. The gene expression of the canonical pathways in NASH progression from steatosis to hepatocellular carcinoma were analyzed, such as immune system process, oxidation-reduction process, lipid metabolic process. Moreover, since it has been reported that genetic traits are involved in the development of NASH-HCC, we next analyzed the genetic mutations in the STAM™mice. The number of individuals showing mutations in Mtorinvolved in Insulin signaling increases as the disease progresses, especially in the liver cancer phase. These results indicated a clinical correlation of gene profiles in the STAM™mouse.

Keywords: steatosis, non-alcoholic steatohepatitis, fibrosis, hepatocellular carcinoma, RNA-seq

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13398 Foot-and-Mouth Virus Detection in Asymptomatic Dairy Cows without Foot-and-Mouth Disease Outbreak

Authors: Duanghathai Saipinta, Tanittian Panyamongkol, Witaya Suriyasathaporn

Abstract:

Animal management aims to provide a suitable environment for animals allowing maximal productivity in those animals. Prevention of disease is an important part of animal management. Foot-and-mouth disease (FMD) is a highly contagious viral disease in cattle and is an economically important animal disease worldwide. Monitoring the FMD virus in farms is useful management for the prevention of the FMD outbreak. A recent publication indicated collection samples from nasal swabs can be used for monitoring FMD in symptomatic cows. Therefore, the objectives of this study were to determine the FMD virus in asymptomatic dairy cattle using nasal swab samples during the absence of an FMD outbreak. The study was conducted from December 2020 to June 2021 using 185 asymptomatic signs of FMD dairy cattle in Chiang Mai Province, Thailand. By random cow selection, nasal mucosal swabs were used to collect samples from the selected cows and then were to evaluate the presence of FMD viruses using the real-time rt-PCR assay. In total, 4.9% of dairy cattle detected FMD virus, including 2 dairy farms in Mae-on (8 samples; 9.6%) and 1 farm in the Chai-Prakan district (1 sample; 1.2%). Interestingly, both farms in Mae-on were the outbreak of the FMD after this detection for 6 months. This indicated that the FMD virus presented in asymptomatic cattle might relate to the subsequent outbreak of FMD. The outbreak demonstrates the presence of the virus in the environment. In conclusion, monitoring of FMD can be performed by nasal swab collection. Further investigation is needed to show whether the FMD virus presented in asymptomatic FMD cattle could be the cause of the subsequent FMD outbreak or not.

Keywords: cattle, foot-and-mouth disease, nasal swab, real-time rt-PCR assay

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13397 How Participatory Climate Information Services Assist Farmers to Uptake Rice Disease Forecasts and Manage Diseases in Advance: Evidence from Coastal Bangladesh

Authors: Moriom Akter Mousumi, Spyridon Paparrizos, Fulco Ludwig

Abstract:

Rice yield reduction due to climate change-induced disease occurrence is becoming a great concern for coastal farmers of Bangladesh. The development of participatory climate information services (CIS) based on farmers’ needs could implicitly facilitate farmers to get disease forecasts and make better decisions to manage diseases. Therefore, this study aimed to investigate how participatory climate information services assist coastal rice farmers to take up rice disease forecasts and better manage rice diseases by improving their informed decision-making. Through participatory approaches, we developed a tailor-made agrometeorological service through the DROP app to forecast rice diseases and manage them in advance. During farmers field schools (FFS) we communicated 7-day disease forecasts during face-to-face weekly meetings using printed paper and, messenger app derived from DROP app. Results show that the majority of the farmers understand disease forecasts through visualization, symbols, and text. The majority of them use disease forecast information directly from the DROP app followed by face-to-face meetings, messenger app, and printed paper. Farmers participation and engagement during capacity building training at FFS also assist them in making more informed decisions and improved management of diseases using both preventive measures and chemical measures throughout the rice cultivation period. We conclude that the development of participatory CIS and the associated capacity-building and training of farmers has increased farmers' understanding and uptake of disease forecasts to better manage of rice diseases. Participatory services such as the DROP app offer great potential as an adaptation option for climate-smart rice production under changing climatic conditions.

Keywords: participatory climate service, disease forecast, disease management, informed decision making, coastal Bangladesg

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13396 Study of Pathogenicity and Characterization of Fusarium oxysporum f.sp. albedinis by Isozymes Systemes

Authors: Abouamama Sidaoui, Noureddine Karkachi, Mebrouk Kihal

Abstract:

The characteristics of Fusarium oxysporium f.sp. albedinis (Foa) isolates were investigated using electrophoretic studies of isozymes systems (esterase and phosphatase). All the (F.o.a) isolates were pathogenic to the date palm seedlings cultivar Deglet Nour, but they did not induce any disease symptoms on control plants. Fusarium sp. isolated from soil did not show aggression against these seedlings. The isoenzymes profiles revealed polymorphic bands. The data were subjected to analysis with the JMP method. The isolates were delineated into two main groups A and B which were divided into sub-groups. 19 isolates create the group A, and four isolates (E1, E2, E3 and M15A) formed the group B. Analysis of isozyme banding patterns was found to be a reliable marker technology, efficient, and effective tools to find the genetic variability among isolates isolated in different geographical areas.

Keywords: genetic diversity, Fusarium oxysporium f. sp. albedinis, isozyme analysis, pathogenicity

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13395 Genetic Diversity and Variation of Nigerian Pigeon (Columba livia domestica) Populations Based on the Mitochondrial Coi Gene

Authors: Foluke E. Sola-Ojo, Ibraheem A. Abubakar, Semiu F. Bello, Isiaka H. Fatima, Sule Bisola, Adesina M. Olusegun, Adeniyi C. Adeola

Abstract:

The domesticated pigeon, Columba livia domestica, has many valuable characteristics, including high nutritional value and fast growth rate. There is a lack of information on its genetic diversity in Nigeria; thus, the genetic variability in mitochondrial cytochrome oxidase subunit I (COI) sequences of 150 domestic pigeons from four different locations was examined. Three haplotypes (HT) were identified in Nigerian populations; the most common haplotype, HT1, was shared with wild and domestic pigeons from Europe, America, and Asia, while HT2 and HT3 were unique to Nigeria. The overall haplotype diversity was 0.052± 0.025, and nucleotide diversity was 0.026± 0.068 across the four investigated populations. The phylogenetic tree showed significant clustering and genetic relationship of Nigerian domestic pigeons with other global pigeons. The median-joining network showed a star-like pattern suggesting population expansion. AMOVA results indicated that genetic variations in Nigerian pigeons mainly occurred within populations (99.93%), while the Neutrality tests results suggested that the Nigerian domestic pigeons’ population experienced recent expansion. This study showed a low genetic diversity and population differentiation among Nigerian domestic pigeons consistent with a relatively conservative COI sequence with few polymorphic sites. Furthermore, the COI gene could serve as a candidate molecular marker to investigate the genetic diversity and origin of pigeon species. The current data is insufficient for further conclusions; therefore, more research evidence from multiple molecular markers is required.

Keywords: Nigeria pigeon, COI, genetic diversity, genetic variation, conservation

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13394 Application of Molecular Markers for Crop Improvement

Authors: Monisha Isaac

Abstract:

Use of molecular markers for selecting plants with desired traits has been started long back. Due to their heritable characteristics, they are useful for identification and characterization of specific genotypes. The study involves various types of molecular markers used to select multiple desired characters in plants, their properties, and advantages to improve crop productivity in adverse climatological conditions for the purpose of providing food security to fast-growing global population. The study shows that genetic similarities obtained from molecular markers provide more accurate information and the genetic diversity can be better estimated from the genetic relationship obtained from the dendrogram. The information obtained from markers assisted characterization is more suitable for the crops of economic importance like sugarcane.

Keywords: molecular markers, crop productivity, genetic diversity, genotype

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13393 Sesame (Sesamum Indicum L.): Molecular Breeding and Transformation

Authors: Micheale Yifter Weldemichael, Stefaan Werbrouck, Hailay Mehari Gebremedhn

Abstract:

Sesame (Sesamum indicum L.) is among the most important oilseed crops for its high edible oil quality and quantity. Sesame is grown for food, medicinal, pharmaceutical, and industrial uses. Sesame is also cultivated as a main cash crop in Asia and Africa by smallholder farmers. Despite the global exponential increase in sesame cultivation area, its production and productivity remain low, mainly due to biotic and abiotic constraints. Notwithstanding the efforts to solve these problems, a low level of genetic variation and inadequate genomic resources hinder the progress of sesame improvement. The objective of this paper is, therefore, to review recent advances in the area of molecular breeding and transformation to overcome major production constraints and could result in enhanced and sustained sesame production. This paper reviews various researches conducted to date on molecular breeding and genetic transformation in sesame focusing on molecular markers used in assessing the available online database resources, genes responsible for key agronomic traits as well as transgenic technology and genome editing. The review concentrates on quantitative and semi-quantitative studies on molecular breeding for key agronomic traits such as improvement of yield components, oil and oil-related traits, disease and insect/pest resistance, and drought, waterlogging and salt tolerance, as well as sesame genetic transformation and genome editing techniques. Pitfalls and limitations of existing studies and methodologies used so far are identified and some priorities for future research directions in sesame genetic improvement are identified in this review.

Keywords: molecular breeding, oil, sesame, shattering

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