Search results for: autosomal recessive genetic disorder (ARGD)

Authors: Muhammad Ashfaq, Muhammad Saleem Haider, Muhammad Ali, Muhammad Sajjad, Amna Ali, Urooj Mubashar

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Phenotypic diversity was confirmed by measuring different morphological traits i.e. seed traits (seed length, seed width, seed thickness, seed length-width ratio, 1000 grain weight) and root-shoot traits (shoot length, root length, shoot fresh weight, root fresh weight, root-shoot ratio, root numbers and root thickness). Variance and association study of desirable traits determine the genotypic differences among the rice germplasm. All the traits showed significant differences among the genotypes. The traits were studied in Randomized complete block design (RCBD) at different water levels. Some traits showed positive correlation with each other and beneficial for increasing the yield and production of the crop. Seed thickness has positive correlation with seed length and seed width (r= 0.104**, r=0.246**). On the other hand, various root shoot traits showed positive highly significant association at different water levels i.e. root length, fresh root weight, root thickness, shoot thickness and root numbers. Our main focus to study the performance/correlation of root shoots traits under stress condition. Fresh root weight, shoot thickness and root numbers showed positive significant association with shoot length, root length, fresh root and shoot weight (r=0.2530**, r=0.2891**, r=0.4626**, r=0.4515**, r=0.5781**, r=0.7164**, r=0.0603**, r= 0.5570**, r=0.5824**). Long root length genotypes favors and suitable for drought stress conditions and screening of diverse genotypes for the further development of new plant material that performing well under different environmental conditions. After screening genetic diversity of potential rice, lines were studied to check the polymorphism by using some SSR markers. DNA was extracted, and PCR analyses were done to study PIC values and allelic diversity of the genotypes. The main objective of this study is to screen out the genotypes on the basis of various genotypic and phenotypic traits.

Keywords: rice, morphological traits, association, germplasm, genetic diversity, water levels, variation

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Authors: M. Karthigayan, M. Rizon, Sazali Yaacob, R. Nagarajan, M. Muthukumaran, Thinaharan Ramachandran, Sargunam Thirugnanam

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In this paper, using a set of irregular and regular ellipse fitting equations using Genetic algorithm (GA) are applied to the lip and eye features to classify the human emotions. Two South East Asian (SEA) faces are considered in this work for the emotion classification. There are six emotions and one neutral are considered as the output. Each subject shows unique characteristic of the lip and eye features for various emotions. GA is adopted to optimize irregular ellipse characteristics of the lip and eye features in each emotion. That is, the top portion of lip configuration is a part of one ellipse and the bottom of different ellipse. Two ellipse based fitness equations are proposed for the lip configuration and relevant parameters that define the emotions are listed. The GA method has achieved reasonably successful classification of emotion. In some emotions classification, optimized data values of one emotion are messed or overlapped to other emotion ranges. In order to overcome the overlapping problem between the emotion optimized values and at the same time to improve the classification, a fuzzy clustering method (FCM) of approach has been implemented to offer better classification. The GA-FCM approach offers a reasonably good classification within the ranges of clusters and it had been proven by applying to two SEA subjects and have improved the classification rate.

Keywords: ellipse fitness function, genetic algorithm, emotion recognition, fuzzy clustering

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Authors: Lamis Naddaf, Yuval Tabach

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In this research, we identified the missense genetic variants that have the potential to enhance resistance against cancer. Such field has not been widely explored, as researchers tend to investigate mutations that cause diseases, in response to the suffering of patients, rather than those mutations that protect from them. In conjunction with the genomic revolution, and the advances in genetic engineering and synthetic biology, identifying the protective variants will increase the power of genotype-phenotype predictions and can have significant implications on improved risk estimation, diagnostics, prognosis and even for personalized therapy and drug discovery. To approach our goal, we systematically investigated the sites of the coding genomes and picked up the alleles that showed a correlation with the species’ cancer resistance. We predicted 250 protecting variants (PVs) with a 0.01 false discovery rate and more than 20 thousand PVs with a 0.25 false discovery rate. Cancer resistance in Mammals and reptiles was significantly predicted by the number of PVs a species has. Moreover, Genes enriched with the protecting variants are enriched in pathways relevant to tumor suppression like pathways of Hedgehog signaling and silencing, which its improper activation is associated with the most common form of cancer malignancy. We also showed that the PVs are more abundant in healthy people compared to cancer patients within different human races.

Keywords: comparative genomics, machine learning, cancer resistance, cancer-protecting alleles

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Authors: Evangelia-Chrysanthi Kouklari, Stella Tsermentseli, Claire P. Monks

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Executive function (EF) refers to a set of future-oriented and goal-directed cognitive skills that are crucial for problem solving and social behaviour, as well as the ability to organise oneself. It has been suggested that EF could be conceptualised as two distinct but interrelated constructs, one emotional (hot) and one cognitive (cool), as it facilitates both affective and cognitive regulation. Cool EF has been found to be strongly related to Theory of Mind (ToM) that is the ability to infer mental states, but research has not taken into account the association between hot EF and ToM in Autism Spectrum Disorder (ASD) to date. The present study investigates the associations between both hot and cool EF and ToM in school-aged children with ASD. This cross-sectional study assesses 79 school-aged children with ASD (7-15 years) and 91 controls matched for age and IQ, on tasks tapping cool EF (working memory, inhibition, planning), hot EF (effective decision making, delay discounting), and ToM (emotional understanding and false/no false belief). Significant group differences in each EF measure support a global executive dysfunction in ASD. Strong associations between hot EF and ToM in ASD are reported for the first time (i.e. ToM emotional understanding and delay discounting). These findings highlight that hot EF also makes a unique contribution to the developmental profile of ASD. Considering the role of both hot and cool EF in association with ToM in individuals with ASD may aid in gaining a greater understanding not just of how these complex multifaceted cognitive abilities relate to one another, but their joint role in the distinct developmental pathway followed in ASD.

Keywords: ASD, executive function, school age, theory of mind

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Authors: Mohammad Muhebbullah Ibne Hoque, Zheng Jun, Wang Guoying

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Salinity stress is one of the most important abiotic factors contributing to crop growth and yield loss. Exploring the genetic basis is necessary to develop maize varieties with salinity tolerance. In order to discover the inherent basis for salinity tolerance traits in maize, 121 polymorphic SSR markers were used to analyze 163 F2 individuals derived from a single cross of inbred line B73 (a salt susceptible inbred line) and CZ-7 (a salt tolerant inbred line). A linkage map was constructed and the map covered 1195.2 cM of maize genome with an average distance of 9.88 cM between marker loci. Ten salt tolerance traits at seedling stage were evaluated for QTL analysis in maize seedlings. A total of 41 QTLs associated with seedling shoot and root traits were detected, with 16 and 25 QTLs under non-salinity and salinity condition, respectively. And only 4 major stable QTLs were detected in two environments. The detected QTLs were distributed on chromosomes 1, 2, 4, 5, 6, 7, 8, 9, and chromosome 10. Phenotypic variability for the identified QTLs for all the traits was in the range from 6.27 to 21.97%. Fourteen QTLs with more than 10% contributions were observed. Our results and the markers associated with the major QTL detected in this study have the potential application for genetic improvement of salt tolerance in maize through marker-assisted selection.

Keywords: salt tolerance, seedling stage, root shoot traits, quantitative trait loci, simple sequence repeat, maize

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Authors: Christian Angerer, Markus Lienkamp

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Electric vehicles offer a high variety of possible drivetrain topologies with up to 4 motors. Multi-motor-designs can have several advantages regarding traction, vehicle dynamics, safety and even efficiency. With a rising number of motors, the whole drivetrain becomes more complex. All permutations of gearings, drivetrain-layouts, motor-types and –sizes lead up in a very large solution space. Single elements of this solution space can be analyzed by simulation methods. In addition to longitudinal vehicle behavior, which most optimization-approaches are restricted to, also lateral dynamics are important for vehicle dynamics, stability and efficiency. In order to compete large solution spaces and to find an optimal result, genetic algorithm based optimization is state-of-the-art. As lateral dynamics simulation is way more CPU-intensive, optimization takes much more time than in case of longitudinal-only simulation. Therefore, this paper shows an approach how to create meta-models from a 14-degree of freedom vehicle model in order to enable a numerically efficient drivetrain-layout optimization process under consideration of lateral dynamics. Different meta-modelling approaches such as neural networks or DoE are implemented and comparatively discussed.

Keywords: driving dynamics, drivetrain layout, genetic optimization, meta-modeling, lateral dynamicx

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Authors: Anil Kumar, Diwakar Aggarwal, M. Sudhakara Reddy

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The wood of Eucalyptus, Populus and bamboos are some important species used as raw material for the manufacture of pulp. However, higher levels of lignin pose a problem during Kraft pulping and yield of pulp is also lower. In order to increase the yield of pulp per unit wood and reduce the use of chemicals during kraft pulping it is important to reduce the lignin content and/or increase cellulose content in wood. Cellulose biosynthesis in wood takes place by the coordinated action of many enzymes. The two important enzymes are KORRIGAN and SUCROSE SYNTHASE. KORRIGAN (Endo-1,4--glucanase) is implicated in the process of editing growing cellulose chains and improvement of the crystallinity of produced cellulose, whereas SUCROSE SYNTHASE is involved in providing substrate (UDP-glucose) for growing cellulose chains. The present study was aimed at the cloning, characterization and overexpression of these genes in Eucalyptus and Populus. An efficient shoot organogenesis protocol from leaf explants taken from micro shoots of the species has been developed. Agrobacterium mediated genetic transformation using Agrobacterium tumefaciens strain EHA105 and LBA4404 harboring binary vector pBI121 was achieved. Both the genes were cloned from cDNA library of Populus deltoides. These were subsequently characterized using various bioinformatics tools. The cloned genes were then inserted into pBI121 under the CaMV35S promotors replacing GUS gene. The constructs were then mobilized into above strains of Agrobacterium and used for the transformation work. Subsequently, genetic transformation of these clones with target genes following already developed protocol is in progress. Four transgenic lines of Eucalyptus tereticornis overexpressing Korrigan gene under the strong constitutive promoters CaMV35S have been developed, which are being further evaluated. Work on development of more transgenic lines overexpressing these genes in Populus and Eucalyptus is also in progress. This presentation will focus on important developments in this direction.

Keywords: Eucalyptus tereticornis, genetic transformation, Kraft pulping Populus deltoides

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Authors: Basheer Idrees Balarabe, Aminu Hamisu Kura, Nabila Shehu

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As the power demand rapidly increases, the generation and transmission systems are affected because of inadequate resources, environmental restrictions and other losses. The role of transient stability control in maintaining the steady-state operation in the occurrence of large disturbance and fault is to describe the ability of the power system to survive serious contingency in time. The application of a Unified power flow controller (UPFC) plays a vital role in controlling the active and reactive power flows in a transmission line. In this research, a genetic algorithm (GA) method is applied to determine the optimal location of the UPFC device in a power system network for the enhancement of the power-system Transient Stability. Optimal location of UPFC has Significantly Improved the transient stability, the damping oscillation and reduced the peak over shoot. The GA optimization Technique proposed was iteratively searches the optimal location of UPFC and maintains the unusual bus voltages within the satisfy limits. The result indicated that transient stability is improved and achieved the faster steady state. Simulations were performed on the IEEE 14 Bus test systems using the MATLAB/Simulink platform.

Keywords: UPFC, transient stability, GA, IEEE, MATLAB and SIMULINK

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Authors: Aftab Khan, Ashfaq Khan

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The research paper focuses on an interesting challenge faced in Blind Image Deblurring (BID). It relates to the estimation of arbitrarily shaped or non-parametric Point Spread Functions (PSFs) of motion blur caused by camera handshake. These PSFs exhibit much more complex shapes than their parametric counterparts and deblurring in this case requires intricate ways to estimate the blur and effectively remove it. This research work introduces a novel blind deblurring scheme visualized for deblurring images corrupted by arbitrarily shaped PSFs. It is based on Genetic Algorithm (GA) and utilises the Blind/Reference-less Image Spatial QUality Evaluator (BRISQUE) measure as the fitness function for arbitrarily shaped PSF estimation. The proposed BID scheme has been compared with other single image motion deblurring schemes as benchmark. Validation has been carried out on various blurred images. Results of both benchmark and real images are presented. Non-reference image quality measures were used to quantify the deblurring results. For benchmark images, the proposed BID scheme using BRISQUE converges in close vicinity of the original blurring functions.

Keywords: blind deconvolution, blind image deblurring, genetic algorithm, image restoration, image quality measures

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

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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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Authors: Lamis Naddaf, Yuval Tabach

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We identified missense genetic variants with the potential to enhance resistance against cancer. Such a field has not been widely explored as researchers tend to investigate the mutations that cause diseases, in response to the suffering of patients, rather than those mutations that protect from them. In conjunction with the genomic revolution and the advances in genetic engineering and synthetic biology, identifying the protective variants will increase the power of genotype-phenotype predictions and have significant implications for improved risk estimation, diagnostics, prognosis, and even personalized therapy and drug discovery. To approach our goal, we systematically investigated the sites of the coding genomes and selected the alleles that showed a correlation with the species’ cancer resistance. Interestingly, we found several amino acids that are more generally preferred (like the Proline) or avoided (like the Cysteine) by the resistant species. Furthermore, Cancer resistance in mammals and reptiles is significantly predicted by the number of the predicted protecting variants (PVs) a species has. Moreover, PVs-enriched-genes are enriched in pathways relevant to tumor suppression. For example, they are enriched in the Hedgehog signaling and silencing pathways, which its improper activation is associated with the most common form of cancer malignancy. We also showed that the PVs are mostly more abundant in healthy people compared to cancer patients within different human races.

Keywords: cancer resistance, protecting variant, naked mole rat, comparative genomics

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Authors: Komal Saeed

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Introduction: Rhinoplasty is considered one of the challenging aesthetic procedures. Psychosocial concerns motivate the urge for aesthetic procedures especially rhinoplasty. Males who fall in this category are designated as single, immature, male, over expectant and narcissistic (SIMON) in literature. As of yet, there is no term that depicts females showing similar characteristics. The purpose of this study is to evaluate the incidence of body dysmorphic disorder (BDD) in females seeking rhinoplasty and to introduce a term for such individuals. Materials and Methods: A prospective, questionnaire based, qualitative study was conducted in the Department Of Plastic Surgery between March 2018 and March 2020. 110 female candidates seeking aesthetic rhinoplasty were included in the study. BDD was evaluated using the Dysmorphic Concerns Questionnaire, DCQ. Data were analyzed using SPSS version 25 software and correlation between the groups was evaluated. Results: Out of 110 female subjects, 77.3% (n=85) were single, 16.4% (n=18) were married and 6.4% (n=7) were divorced. BDD was found in 41.8% (n=46) of the candidates, majority being single (n=41, 89.1%) and having educational status above diploma (n=39, 84.8%). There was a statistically higher percentage of young adults between 24 and 28 years (n=33, 71.7%) having BDD (p= 0.0001). Conclusion: Considering the high frequency of BDD among females seeking rhinoplasty, a standardized term ‘SIFON’ is introduced to describe such individuals who are S; single, I; immature, F; female, O; over expectant, N; narcissistic as apposed to SIMON in males. These individuals perceive aesthetic procedures as a solution to their body dissatisfaction. Therefore, preoperative counseling seems necessary to avoid unsatisfactory outcomes secondary to mental health.

Keywords: aesthetic rhinoplasty, body dismorphic disorder, single, immature, obsessive

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Authors: Haile Berihulay, Chenglong Luo

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Avian influenza, commonly known as bird flu, is a highly contagious viral disease primarily affecting poultry and wild birds, with significant implications for both animal health and public safety. The influenza virus (IV) is notorious for its ability to mutate and infect multiple species, including humans, leading to severe consequences. Avian influenza poses considerable pandemic risks due to the potential evolution of low pathogenic avian influenza (LPAI) into highly pathogenic avian influenza (HPAI), which can cause rapid outbreaks in domestic flocks. While AVI viruses typically do not replicate well in humans, strains such as H5N1 and H7N9 have crossed the species barrier, raising alarm over human infections. The recent documentation of human transmission of the H5N8 strain from birds underscores the ongoing threat posed by avian influenza. This review necessitates a thorough discussion about the genetic foundation of viral pathogens, identifying key candidate genes linked to disease resilience, and discussing powerful tools. This review can help researchers to comprehensively overview the disease severity and combat related to AIV, which causes significant economic impact and set effective control strategies to mitigate the risks associated with avian influenza outbreaks.

Keywords: Avian, candidate genes, chicken, molecular, pathogen, virus

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Authors: Anchal Rana

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Indian Himalayas with their diverse climatic conditions are home to many rare and endangered medicinal flora. One such species is Polygonatum verticillatum Linn., popularly known as King Solomon’s Seal or Solomon’s Seal. Its mention as an incredible medicinal herb comes from 5000 years ago in Indian Materia Medica as a component of Ashtavarga, a poly-herbal formulation comprising of eight herbs illustrated as world’s first ever revitalizing and rejuvenating nutraceutical food, which is now commercialised in the name ‘Chaywanprash’. It is an erect tall (60 to 120 cm) perennial herb with sessile, linear leaves and white pendulous flowers. The species grows well in an altitude range of 1600 to 3600 m amsl, and propagates mostly through rhizomes. The rhizomes are potential source for significant phytochemicals like flavonoids, phenolics, lectins, terpenoids, allantoin, diosgenin, β-Sitosterol and quinine. The presence of such phytochemicals makes the species an asset for antioxidant, cardiotonic, demulcent, diuretic, energizer, emollient, aphrodisiac, appetizer, glactagogue, etc. properties. Having profound concentrations of macro and micronutrients, species has fine prospects of being used as a diet supplement. However, due to unscientific and gregarious uprooting, it has been assigned a status of ‘vulnerable’ and ‘endangered’ in the Conservation Assessment and Management Plan (CAMP) process conducted by Foundation for Revitalisation of Local Health Traditions (FRLHT) during 2010, according to IUCN Red-List Criteria. Further, destructive harvesting, land use disturbances, heavy livestock grazing, climatic changes and habitat fragmentation have substantially contributed towards anomaly of the species. It, therefore, became imperative to conserve the diversity of the species and make judicious use in future research and commercial programme and schemes. A Gene Bank was therefore established at High Altitude Herbal Garden of the Forest Research Institute, Dehradun, India situated at Chakarata (30042’52.99’’N, 77051’36.77’’E, 2205 m amsl) consisting 149 accessions collected from thirty-one geographical locations spread over three Himalayan States of Jammu and Kashmir, Himachal Pradesh, and Uttarakhand. The present investigations purport towards sampling and collection of divergent germplasm followed by planting and cultivation techniques. The ultimate aim is thereby focussed on analysing genetic diversity of the species and capturing promising genotypes for carrying out further genetic improvement programme so to contribute towards sustainable development and healthcare.

Keywords: Polygonatum verticillatum Linn., phytochemicals, genetic diversity, conservation, gene bank

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Authors: C. Flynn, Q. Yuan, C. Reinhardt

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Alzheimer’s Disease (AD) is a progressive neurodegenerative disorder affecting broad areas of the cerebral cortex and hippocampus. More than 95% of AD cases are representative of sporadic AD, where both genetic and environmental risk factors play a role. The main pathological features of AD include the widespread deposition of amyloid-beta and neurofibrillary tau tangles in the brain. The earliest brain pathology related to AD has been defined as hyperphosphorylated soluble tau in the noradrenergic locus coeruleus (LC) neurons, characterized by Braak. However, the cause of this pathology and the ultimate progression of AD is not understood. Increasing research points to a connection between the gut microbiota and the brain, and mounting evidence has shown that there is a bidirectional interaction between the two, known as the gut-brain axis. This axis can allow for bidirectional movement of neuroinflammatory cytokines and pathogenic misfolded proteins, as seen in AD. Prebiotics and probiotics have been shown to have a beneficial effect on gut health and can strengthen the gut-barrier as well as the blood-brain barrier, preventing the spread of these pathogens across the gut-brain axis. Our laboratory has recently established a pretangle tau rat model, in which we selectively express pseudo-phosphorylated human tau (htauE14) in the LC neurons of TH-Cre rats. LC htauE14 produced pathological changes in rats resembling those of the preclinical AD pathology (reduced olfactory discrimination and LC degeneration). In this work, we will investigate the effects of pre/probiotic ingestion on AD behavioral deficits, blood inflammation/cytokines, and various brain markers in our experimental rat model of AD. Rats will be infused with an adeno-associated viral vector containing a human tau gene pseudophosphorylated at 14 sites (common in LC pretangles) into 2-3 month TH-Cre rats. Fecal and blood samples will be taken at pre-surgery, and various post-surgery time points. A collection of behavioral tests will be performed, and immunohistochemistry/western blotting techniques will be used to observe various biomarkers. This work aims to elucidate the relationship between gut health and AD progression by strengthening gut-brain relationship and aims to observe the overall effect on tau formation and tau pathology in AD brains.

Keywords: alzheimer’s disease, aging, gut microbiome, neurodegeneration

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Authors: Jean Pierre Kabue, Emma Meader, Afsatou Ndama Traore, Paul R. Hunter, Natasha Potgieter

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Norovirus is now considered the most common cause of outbreaks of nonbacterial gastroenteritis. Limited data are available for Norovirus strains in Africa, especially in rural and peri-urban areas. Despite the excessive burden of diarrhea disease in developing countries, Norovirus infections have been to date mostly reported in developed countries. There is a need to investigate intensively the role of viral agents associated with diarrhea in different settings in Africa continent. To determine the prevalence and genetic diversity of Norovirus strains circulating in the rural communities in the Limpopo Province, South Africa and investigate the genetic relationship between Norovirus strains, a cross-sectional study was performed on human stools collected from rural communities. Between July 2014 and April 2015, outpatient children under 5 years of age from rural communities of Vhembe District, South Africa, were recorded for the study. A total of 303 stool specimens were collected from those with diarrhea (n=253) and without (n=50) diarrhea. NoVs were identified using real-time one-step RT-PCR. Partial Sequence analyses were performed to genotype the strains. Phylogenetic analyses were performed to compare identified NoVs genotypes to the worldwide circulating strains. Norovirus detection rate was 41.1% (104/253) in children with diarrhea. There was no significant difference (OR=1.24; 95% CI 0.66-2.33) in Norovirus detection between symptomatic and asymptomatic children. Comparison of the median CT values for NoV in children with diarrhea and without diarrhea revealed significant statistical difference of estimated GII viral load from both groups, with a much higher viral burden in children with diarrhea. To our knowledge, this is the first study reporting on the differences in estimated viral load of GII and GI NoV positive cases and controls. GII.Pe (n=9) were the predominant genotypes followed by GII.Pe/GII.4 Sydney 2012 (n=8) suspected recombinant and GII.4 Sydney 2012 variants(n=7). Two unassigned GII.4 variants and an unusual RdRp genotype GII.P15 were found. With note, the rare GIIP15 identified in this study has a common ancestor with GIIP15 strain from Japan previously reported as GII/untypeable recombinant strain implicated in a gastroenteritis outbreak. To our knowledge, this is the first report of this unusual genotype in the African continent. Though not confirmed predictive of diarrhea disease in this study, the high detection rate of NoV is an indication of subsequent exposure of children from rural communities to enteric pathogens due to poor sanitation and hygiene practices. The results reveal that the difference between asymptomatic and symptomatic children with NoV may possibly be related to the NoV genogroups involved. The findings emphasize NoV genetic diversity and predominance of GII.Pe/GII.4 Sydney 2012, indicative of increased NoV activity. An uncommon GII.P15 and two unassigned GII.4 variants were also identified from rural settings of the Vhembe District/South Africa. NoV surveillance is required to help to inform investigations into NoV evolution, and to support vaccine development programmes in Africa.

Keywords: asymptomatic, common, outpatients, norovirus genetic diversity, sporadic gastroenteritis, South African rural communities, symptomatic

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Authors: Sait Ozsoy, Hacer Yasar Teke, Mustafa Dalgic, Cetin Ketenci, Ertugrul Gok, Kenan Karbeyaz, Azem Irez, Mesut Akyol

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Self-mutilating behavior or self-injury behavior (SIB) is defined as: intentional harm to one’s body without intends to commit suicide”. SIB cases are commonly seen in psychiatry and forensic medicine practices. Despite variety of SIB methods, cuts in the skin is the most common (70-97%) injury in this group of patients. Subjects with SIB have one or more other comorbidities which include depression, anxiety, depersonalization, and feeling of worthlessness, borderline personality disorder, antisocial behaviors, and histrionic personality. These individuals feel a high level of hostility towards themselves and their surroundings. Researches have also revealed a strong relationship between antisocial personality disorder, criminal behavior, and SIB. This study has retrospectively evaluated 6,599 autopsy cases performed at forensic medicine institutes of six major cities (Ankara, Izmir, Diyarbakir, Erzurum, Trabzon, Eskisehir) of Turkey in 2013. The study group consisted of all cases with SIB findings (psychopathic cuts, cigarette burns, scars, and etc.). The relationship between causes of death in the study group (SIB subjects) and the control group was investigated. The control group was created from subjects without signs of SIB. Mann-Whitney U test was used for age variables and Chi-square test for categorical variables. Multinomial logistic regression analysis was used in order to analyze group differences in respect to manner of death (natural, accident, homicide, suicide) and analysis of risk factors associated with each group was determined by the Binomial logistic regression analysis. This study used SPSS statistics 15.0 for all its statistical and calculation needs. The statistical significance was p <0.05. There was no significant difference between accidental and natural death among the groups (p=0.737). Also there was a unit increase in number of cuts in psychopathic group while number of accidental death decreased (95% CI: 0.941-0.993) by 0.967 times (p=0.015). In contrast, there was a significant difference between suicidal and natural death (p<0.001), and also between homicidal and natural death (p=0.025). SIB is often seen with borderline and antisocial personality disorder but may be associated with many psychiatric illnesses. Studies have shown a relationship between antisocial personality disorders with criminal behavior and SIB with suicidal behavior. In our study, rate of suicide, murder and intoxication was higher compared to the control group. It could be concluded that SIB can be used as a predictor of possibility of one’s harm to him/herself and other people.

Keywords: autopsy, cause of death, forensic science, self-injury behaviour

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Authors: Nikk Leavitt, Peter Kellett, Cheryl Currie, Richard Larouche

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Background: Masculinity has been associated with poor mental health outcomes in adult men and is colloquially referred to as toxic. Masculinity is traditionally measured using the Male Role Norms Inventory, which examines behaviors that may be common in men but that are themselves associated with poor mental health regardless of gender (e.g., aggressiveness). The purpose of this study was to examine if masculinity is associated with generalized anxiety among men using this inventory vs. a man’s personal definition of it. Method: An online survey collected data from 1,200 men aged 18-65 across Canada in July 2022. Masculinity was measured using: 1) the Male Role Norms Inventory Short Form and 2) by asking men to self-define what being masculine means. Men were then asked to rate the extent they perceived themselves to be masculine on a scale of 1 to 10 based on their definition of the construct. Generalized anxiety disorder was measured using the GAD-7. Multiple linear regression was used to examine associations between each masculinity score and anxiety score, adjusting for confounders. Results: The masculinity score measured using the inventory was positively associated with increased anxiety scores among men (β = 0.02, p < 0.01). Masculinity subscales most strongly correlated with higher anxiety were restrictive emotionality (β = 0.29, p < 0.01) and dominance (β = 0.30, p < 0.01). When traditional masculinity was replaced by a man’s self-rated masculinity score in the model, the reverse association was found, with increasing masculinity resulting in a significantly reduced anxiety score (β = -0.13, p = 0.04). Discussion: These findings highlight the need to revisit the ways in which masculinity is defined and operationalized in research to better understand its impacts on men’s mental health. The findings also highlight the importance of allowing participants to self-define gender-based constructs, given they are fluid and socially constructed.

Keywords: masculinity, generalized anxiety disorder, race, intersectionality

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Authors: Hieu Van Dong, Giang Thi Huong Tran, Giap Van Nguyen, Tung Duy Dao, Vuong Nghia Bui, Le Thi My Huynh, Yohei Takeda, Haruko Ogawa, Kunitoshi Imai

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Chicken anemia virus (CAV) has a ubiquitous and worldwide distribution in chicken production. Our group previously reported high seroprevalence of CAV in chickens in northern Vietnam. In the present study, 330 tissue samples collected from commercial and breeder chicken farms in eleven provinces in northern Vietnam were tested for the CAV infection. We found that 157 out of 330 (47.58%) chickens were positive with CAV genes by real-time PCR method. Nine CAV strains obtained from the different location and time were forwarded to the full-length sequence of CAV VP1 gene. Phylogenetic analysis of the Vietnamese CAV vp1 gene indicated that the CAVs circulating in northern Vietnam were divided into three distinct genotypes, II, III, and V, but not clustered with the vaccine strains. Among the three genotypes, genotype III was the major one widely spread in Vietnam, and that included three sub-genotypes, IIIa, IIIb, and IIIc. The Vietnamese CAV strains were closely related to the Chinese, Taiwanese, and USA strains. All the CAV isolates had glutamine at amino acid position 394 in the VP1 gene, suggesting that they might be highly pathogenic strains. One strain was defined to be genotype V, which had not been reported for Vietnamese CAVs. Additional studies are required to further evaluate the pathogenicity of CAV strains circulating in Vietnam.

Keywords: chicken anemia virus, genotype, genetic characteristics, Vietnam

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Authors: Stephanie A. Schauder, Gosia Sylwestrzak

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Overweight and obese women report avoiding preventive care due to fear of weight-related bias from medical professionals. Gynecological exams, due to their sensitive and personally invasive nature, are especially susceptible to avoidance. This research investigates the association between body mass index (BMI) and screening rates for breast and cervical cancer using claims data from 1.3 million members of a large health insurance company. Because obesity is associated with increased cancer risk, screenings for these cancers should increase as BMI increases. However, this paper finds that the distribution of cancer screening rates by BMI take an inverted U-shape with underweight and obese members having the lowest screening rates. For cervical cancer screening, those in the target population with a BMI of 23 have the highest screening rate at 68%, while Obese Class III members have a screening rate of 50%. Those in the underweight category have a screening rate of 58%. This relationship persists even after controlling for health and demographic covariates in regression analysis. Interestingly, there is no association between BMI and BRCA (BReast CAncer gene) genetic testing. This is consistent with the narrative that stigma causes avoidance because genetic testing does not involve any assessment of a person’s body. More work must be done to determine how to increase cancer screening rates in those who may feel stigmatized due to their weight.

Keywords: cancer screening, cervical cancer, breast cancer, weight stigma, avoidance of care

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Authors: Palash Dey, Sudip Talukdar

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In this work, a cross-breed approach is presented for obtaining both the amount of the damage intensity and location of damage existing in thin-walled members. This cross-breed approach is developed based on response surface methodology (RSM) and genetic algorithm (GA). Theoretical finite element (FE) model of cracked angle section thin walled curved beam has been linked to the developed approach to carry out trial experiments to generate response surface functions (RSFs) of free, forced and heterogeneous dynamic response data. Subsequently, the error between the computed response surface functions and measured dynamic response data has been minimized using GA to find out the optimum damage parameters (amount of the damage intensity and location). A single crack of varying location and depth has been considered in this study. The presented approach has been found to reveal good accuracy in prediction of crack parameters and possess great potential in crack detection as it requires only the current response of a cracked beam.

Keywords: damage parameters, finite element, genetic algorithm, response surface methodology, thin walled curved beam

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Authors: Cetin Arslan, Senol Tayan

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Social media is one of the most important and effective means of social interaction among people in which they create, share and exchange their ideas via photos, videos or voice messages. Although there are lots of communication tools, social media sites are the most prominent ones that allows the users articulate themselves in a matter of seconds all around the world with almost any expenses and thus, they became very popular and widespread after its emergence. As the usage of social media increases, it becomes an effective instrument in social matters. While it is possible to use social media to emphasize basic human rights and protest some failures of any government as in “Arab Spring”, it is also possible to spread propaganda and misinformation just to cause long lasting insurgency, upheaval, turmoil or disorder as an instrument of intervention to internal affairs and state sovereignty by some hostile groups or countries. It is certain that “social media” has positive effects on democracies letting people have chance to express themselves and to organize, but it is also obvious that the misuse of it, is very common that even a five-minute-long video can cause to wage a campaign against a country. Although it looks anti-democratic, when you consider the catastrophic effects of misuse of social media, it is a kind of area that serious precautions are to be taken without limiting democratic rights while allowing constant and perpetual share but preventing the criminal events. This article begins with the current developments in social media and gives some examples on misuse of it. Second part tries to put emphasize on the legal basis that can prevent criminal activities and the upheavals and insurgencies against state security. Last part makes comparison between democratic countries and international organizations’’ actions against such activities and proposes some further actions that are compatible with democratic norms.

Keywords: democracy, disorder, security, Social Media

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Authors: Natalia Koltovaya, Nadezhda Zhuchkina, Ksenia Lyubimova

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We study the biological effects induced by ionizing radiation in view of therapeutic exposure and the idea of space flights beyond Earth's magnetosphere. In particular, we examine the differences between base pair substitution induction by ionizing radiation in model haploid and diploid yeast Saccharomyces cerevisiae cells. Such mutations are difficult to study in higher eukaryotic systems. In our research, we have used a collection of six isogenic trp5-strains and 14 isogenic haploid and diploid cyc1-strains that are specific markers of all possible base-pair substitutions. These strains differ from each other only in single base substitutions within codon-50 of the trp5 gene or codon-22 of the cyc1 gene. Different mutation spectra for two different haploid genetic trp5- and cyc1-assays and different mutation spectra for the same genetic cyc1-system in cells with different ploidy — haploid and diploid — have been obtained. It was linear function for dose-dependence in haploid and exponential in diploid cells. We suggest that the differences between haploid yeast strains reflect the dependence on the sequence context, while the differences between haploid and diploid strains reflect the different molecular mechanisms of mutations.

Keywords: base pair substitutions, γ-rays, haploid and diploid cells, yeast Saccharomyces cerevisiae

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Authors: Zikra Faiz, Nisar Abid, Muhammad Waqas

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This study aim to examine the challenges faced by teachers during teaching to those students who are intellectually disable, suffering from autism spectrum disorder, learning disability, and ADHD at the primary level. The descriptive research design of quantitative approach was adopted to conduct this study; a cross-sectional survey method was used to collect data. The sample was comprised of 258 (43 male and 215 female) teachers who teach at special education institutes of Lahore district selected through proportionate stratified random sampling technique. Self-developed questionnaire was used which was comprised of 22 closed-ended items. Collected data were analyzed through descriptive and inferential statistical techniques by using Statistical Package for Social Sciences (SPSS) version 21. Results show that teachers faced problems during group activities, to handle bad behavior and different disabilities of students. It is concluded that there was a significant difference between male and female teachers perceptions about challenges faced during teaching with developmental disable students. Furthermore, there was a significant difference exist in the perceptions of teachers regarding challenges faced during teaching to students with developmental disabilities in term of teachers’ age and area of specialization. It is recommended that developmentally disable student require extra attention so that, teacher should trained through pre-service and in-service training to teach developmentally disabled students.

Keywords: intellectual disability, autism spectrum disorder, ADHD, learning disability

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Authors: Adewale I. Adeolu, Vivian U. Oleforuh-Okoleh, Sylvester N. Ibe

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Heritability and repeatability estimates are needed for the genetic evaluation of livestock populations and consequently for the purpose of upgrading or improvement. Pooled data on 604 progeny from three consecutive parities of purebred rabbit breeds (Chinchilla, Dutch and New Zealand white) raised in Derived Savanna Zone of Nigeria were used to estimate heritability and repeatability for pre-weaning body weights between 1st and 8th week of age. Traits studied include Individual kit weight at birth (IKWB), 2nd week (IK2W), 4th week (IK4W), 6th week (IK6W) and 8th week (IK8W). Nested random effects analysis of (Co)variances as described by Statistical Analysis System (SAS) were employed in the estimation. Respective heritability estimates from the sire component (h2s) and repeatability (R) as intra-class correlations of repeated measurements from the three parties for IKWB, IK2W, IK4W and IK8W are 0.59±0.24, 0.55±0.24, 0.93±0.31, 0.28±0.17, 0.64±0.26 and 0.12±0.14, 0.05±0.14, 0.58±0.02, 0.60±0.11, 0.20±0.14. Heritability and repeatability (except R for IKWB and IK2W) estimates are moderate to high. In conclusion, since pre-weaning body weights in the present study tended to be moderately to highly heritable and repeatable, improvement of rabbits raised in derived savanna zone can be realized through genetic selection criterions.

Keywords: heritability, nested design, parity, pooled data, repeatability

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Authors: Cely D. Magpantay, Geolynne Marie Adel, Cire-rine Mae Concepcion, Dessa Jean Orcajada, Jorgette Andrea Santos, Orian Laurace Canaman

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Mental illness initiative is very relevant in promoting the Mental Health Bill act of 2017. In the Philippines alone, the public is more open and receptive to people at risks with a mental condition. Although it is uncommon that parents can become more psychologically unfit compared to their children, research shows that parents who are suffering from mental illness have a more significant negative effect than another family member. The impact of parent’s mental health can put their children more susceptible to acquire the same disorder. The aim of the study is to explore the lived experiences of children whose parents suffered from mental illness. It discusses how their parent's mental condition in, anyway, affects their psychological development. Using Phenomenological Qualitative Research, an in-depth, interview was conducted to five (5) consenting adults who lived with their parents diagnosed with a mental disorder. Results are clustered into four themes. The first theme is the negative emotion towards parents, the second theme is the psychosocial dynamics in caring for the patient, third is accepting the disease, and fourth is a general perspective on the family. Each themes is validated by experts and the participants. This theme generates subcomponent like isolation, shallow relationship and debt of gratitude. Along with these themes comes the fear of having a family emerged. There is a growing need to strengthen the family ties even more because of parent’s mental illness. Therefore, parental mental illness has an effect on the children’s psychological and social development.

Keywords: lived experience in Philippines, mental health, parental mental illness, psychosocial dynamics

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Authors: Rabia Faridi, Rizwana Maqbool, Umara Sahar Rana, Zaheer Ahmad

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Climate change impacts agriculture, notably in Germany, where spring faba beans predominate. However, improved winter hardiness aligns with milder winters, enabling autumn-sown varieties. Genetic resistance to Ascochyta blight is vital for crop integration. Traditional breeding faces challenges due to complex inheritance. This study assessed 224 homozygous faba bean lines for Ascochyta resistance traits. To achieve h²>70%, 12 replicates were required (realized h²=87%). Genetic variation and strong trait correlations were observed. Five lines outperformed 29H, while three were highly susceptible. A genome-wide association study (GWAS) with 188 inbred lines and 2058 markers, including 17 guide SNP markers, identified 12 markers associated with resistance traits, potentially indicating new resistance genes. One guide marker (Vf-Mt1g014230-001) on chromosome III validated a known QTL. The guided marker approach complemented GWAS, facilitating marker-assisted selection for Ascochyta resistance. The Göttingen Winter Bean Population offers promise for resistance breeding.

Keywords: genome wide association studies, marker assisted breeding, faba bean, ascochyta blight

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Authors: Alla Tvardovskaya

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The family of a child with disabilities is an important mechanism of socialization. The relationship of mother and child with developmental difficulties is a significant predictor of the emergence, development and interiorization of various forms of mental activity. Complex impairments of the child form nonconstructive maternal attitude and destructive behavior strategies that complicate the dyadic relationship ‘mother-child’. The study of psychological characteristics of mother's personality was conducted within four years, and adaptive abilities of a child with a complex disorder were evaluated as well. 25 diads (25 mothers and 25 preschool children aged between 4-7 years with complex developmental disorders) took part in the study. Typological features of mothers rearing deafblind preschoolers are described. Constructive and non-constructive types of mothers’ attitude to a pre-school child with complex disorders are specified. The research shows that mothers of deafblind children are more depressed, they are engaged in children’s rearing more, and at the same time they experience difficulties to control negative emotions towards children or demonstrate impulsive behavior with a high level of anxiety. The correlation analysis of relationships between Vineland scales and the dominant type of mothers’ attitude to a child shows the presence of both general and specific links. Adaptive profile analysis of a child with complex disabilities allows to plan specific ways to increase their adaptation by developing a dyadic constructive relationship system. Techniques to develop constructive parental attitudes toward the child are proposed.

Keywords: adaptive behavior, complex disorder, constructive maternal attitude, deaf-blindness, pre-school child

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Authors: Sawitree Wongkittirungrueang

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The objectives of this research were: 1) to study the effect of social stories on social interaction of students with autism. The sample was Pratomsuksa level 5 student with autism, Khon Kaen University Demonstration School, who was diagnosed by the Physician as High Functioning Autism since he was able to read, write, calculate and was studying in inclusive classroom. However, he still had disability in social interaction to participate in social activity group and communication. He could not learn how to develop friendship or create relationship. He had inappropriate behavior in social context. He did not understand complex social situations. In addition, he did seemed not know time and place. He was not able to understand feeling of oneself as well as the others. Consequently, he could not express his emotion appropriately. He did not understand or express his non-verbal language for communicating with friends. He lacked of common interest or emotion with nearby persons. He greeted inappropriately or was not interested in greeting. In addition, he did not have eye contact. He used inadequate language etc. He was elected by Purposive Sampling. His parents were willing to allow them to participate in this study. The research instruments were the lesson plan of social stories, and the picture book of social stories. The instruments used for data collection, were the social interaction evaluation of autistic students. This research was Quasi Experimental Research as One Group Pre-test, Post-test Design. For the Pre-test, the experiment was conducted by social stories. Then, the Post-test was implemented. The statistic used for data analysis, included the Mean, and Standard Deviation. The research findings were shown by Graph. The findings revealed hat the autistic students taught by social stories indicated better social interaction after being taught by social stories.

Keywords: social story, autism spectrum disorder (ASD), autism, social interaction

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Authors: Uswah Ahmad Khan, Muhammad Moazam Fraz, Humayoon Shafique Satti, Qasim Aziz

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Approximately 10-14% of the global population experiences a functional disorder known as irritable bowel syndrome (IBS). The disorder is defined by persistent abdominal pain and an irregular bowel pattern. IBS significantly impairs work productivity and disrupts patients' daily lives and activities. Although IBS is widespread, there is still an incomplete understanding of its underlying pathophysiology. This study aims to help characterize the phenotype of IBS patients by differentiating the comorbidities found in IBS patients from those in non-IBS patients using machine learning algorithms. In this study, we extracted samples coding for IBS from the UK BioBank cohort and randomly selected patients without a code for IBS to create a total sample size of 18,000. We selected the codes for comorbidities of these cases from 2 years before and after their IBS diagnosis and compared them to the comorbidities in the non-IBS cohort. Machine learning models, including Decision Trees, Gradient Boosting, Support Vector Machine (SVM), AdaBoost, Logistic Regression, and XGBoost, were employed to assess their accuracy in predicting IBS. The most accurate model was then chosen to identify the features associated with IBS. In our case, we used XGBoost feature importance as a feature selection method. We applied different models to the top 10% of features, which numbered 50. Gradient Boosting, Logistic Regression and XGBoost algorithms yielded a diagnosis of IBS with an optimal accuracy of 71.08%, 71.427%, and 71.53%, respectively. Among the comorbidities most closely associated with IBS included gut diseases (Haemorrhoids, diverticular diseases), atopic conditions(asthma), and psychiatric comorbidities (depressive episodes or disorder, anxiety). This finding emphasizes the need for a comprehensive approach when evaluating the phenotype of IBS, suggesting the possibility of identifying new subsets of IBS rather than relying solely on the conventional classification based on stool type. Additionally, our study demonstrates the potential of machine learning algorithms in predicting the development of IBS based on comorbidities, which may enhance diagnosis and facilitate better management of modifiable risk factors for IBS. Further research is necessary to confirm our findings and establish cause and effect. Alternative feature selection methods and even larger and more diverse datasets may lead to more accurate classification models. Despite these limitations, our findings highlight the effectiveness of Logistic Regression and XGBoost in predicting IBS diagnosis.

Keywords: comorbidities, disease association, irritable bowel syndrome (IBS), predictive analytics

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