Search results for: reference gene
3031 Over Expression of Mapk8ip3 Patient Variants in Zebrafish to Establish a Spectrum of Phenotypes in a Rare-Neurodevelopmental Disorder
Authors: Kinnsley Travis, Camerron M. Crowder
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Mapk8ip3 (Mitogen-Activated Protein Kinase 8 Interacting Protein 3) is a gene that codes for the JIP3 protein, which is a part of the JIP scaffolding protein family. This protein is involved in axonal vesicle transport, elongation and regeneration. Variants in the Mapk8ip3 gene are associated with a rare-genetic condition that results in a neurodevelopmental disorder that can cause a range of phenotypes including global developmental delay and intellectual disability. Currently, there are 18 known individuals diagnosed to have sequenced confirmed Mapk8ip3 genetic disorders. This project focuses on examining the impact of a subset of missense patient variants on the Jip3 protein function by overexpressing the mRNA of these variants in a zebrafish knockout model for Jip3. Plasmids containing cDNA with individual missense variants were reverse transcribed, purified, and injected into single-cell zebrafish embryos (Wild Type, Jip3 -/+, and Jip3 -/-). At 6-days post mRNA microinjection, morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Morphologically, we compared the size and shape of the zebrafish during their development over a 5-day period. Total locomotive activity was assessed using the Microtracker assay and patterns of movement over time were examined using the DanioVision assay. Lastly, we used confocal microscopy to examine sensory axons for swelling and shortened length, which are phenotypes observed in the loss-of-function knockout Jip3 zebrafish model. Using these assays during embryonic development, we determined the impact of various missense variants on Jip3 protein function, compared to knockout and wild-type zebrafish embryo models. Variants in the gene Mapk8ip3 cause rare-neurodevelopmental disorders due to an essential role in axonal vesicle transport, elongation and regeneration. A subset of missense variants was examined by overexpressing the mRNA of these variants in a Jip3 knock-out zebrafish. Morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Using these assays, the spectrum of disorders can be phenotypically determined and the impact of variant location can be compared to knockout and wild-type zebrafish embryo models.Keywords: rare disease, neurodevelopmental disorders, mrna overexpression, zebrafish research
Procedia PDF Downloads 1093030 Gene Expression Meta-Analysis of Potential Shared and Unique Pathways Between Autoimmune Diseases Under anti-TNFα Therapy
Authors: Charalabos Antonatos, Mariza Panoutsopoulou, Georgios K. Georgakilas, Evangelos Evangelou, Yiannis Vasilopoulos
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The extended tissue damage and severe clinical outcomes of autoimmune diseases, accompanied by the high annual costs to the overall health care system, highlight the need for an efficient therapy. Increasing knowledge over the pathophysiology of specific chronic inflammatory diseases, namely Psoriasis (PsO), Inflammatory Bowel Diseases (IBD) consisting of Crohn’s disease (CD) and Ulcerative colitis (UC), and Rheumatoid Arthritis (RA), has provided insights into the underlying mechanisms that lead to the maintenance of the inflammation, such as Tumor Necrosis Factor alpha (TNF-α). Hence, the anti-TNFα biological agents pose as an ideal therapeutic approach. Despite the efficacy of anti-TNFα agents, several clinical trials have shown that 20-40% of patients do not respond to treatment. Nowadays, high-throughput technologies have been recruited in order to elucidate the complex interactions in multifactorial phenotypes, with the most ubiquitous ones referring to transcriptome quantification analyses. In this context, a random effects meta-analysis of available gene expression cDNA microarray datasets was performed between responders and non-responders to anti-TNFα therapy in patients with IBD, PsO, and RA. Publicly available datasets were systematically searched from inception to 10th of November 2020 and selected for further analysis if they assessed the response to anti-TNFα therapy with clinical score indexes from inflamed biopsies. Specifically, 4 IBD (79 responders/72 non-responders), 3 PsO (40 responders/11 non-responders) and 2 RA (16 responders/6 non-responders) datasetswere selected. After the separate pre-processing of each dataset, 4 separate meta-analyses were conducted; three disease-specific and a single combined meta-analysis on the disease-specific results. The MetaVolcano R package (v.1.8.0) was utilized for a random-effects meta-analysis through theRestricted Maximum Likelihood (RELM) method. The top 1% of the most consistently perturbed genes in the included datasets was highlighted through the TopConfects approach while maintaining a 5% False Discovery Rate (FDR). Genes were considered as Differentialy Expressed (DEGs) as those with P ≤ 0.05, |log2(FC)| ≥ log2(1.25) and perturbed in at least 75% of the included datasets. Over-representation analysis was performed using Gene Ontology and Reactome Pathways for both up- and down-regulated genes in all 4 performed meta-analyses. Protein-Protein interaction networks were also incorporated in the subsequentanalyses with STRING v11.5 and Cytoscape v3.9. Disease-specific meta-analyses detected multiple distinct pro-inflammatory and immune-related down-regulated genes for each disease, such asNFKBIA, IL36, and IRAK1, respectively. Pathway analyses revealed unique and shared pathways between each disease, such as Neutrophil Degranulation and Signaling by Interleukins. The combined meta-analysis unveiled 436 DEGs, 86 out of which were up- and 350 down-regulated, confirming the aforementioned shared pathways and genes, as well as uncovering genes that participate in anti-inflammatory pathways, namely IL-10 signaling. The identification of key biological pathways and regulatory elements is imperative for the accurate prediction of the patient’s response to biological drugs. Meta-analysis of such gene expression data could aid the challenging approach to unravel the complex interactions implicated in the response to anti-TNFα therapy in patients with PsO, IBD, and RA, as well as distinguish gene clusters and pathways that are altered through this heterogeneous phenotype.Keywords: anti-TNFα, autoimmune, meta-analysis, microarrays
Procedia PDF Downloads 1693029 Shoulder-Arm Mobility and Upper and Lower Extremity Muscle Function are Impaired in Patients with Systemic Sclerosis
Authors: F. Bringby, A. Nordin, L. Björnådal, E. Svenungsson, C. Boström, H Alexanderson
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Patients with systemic sclerosis (SSc) have reduced hand function and self-reported limitations in daily activities. Few studies have explored limitations in shoulder-arm mobility and muscle function, or if there are differences in physical function between diffuse cutaneous (dcSSc) and limited cutaneous (lcSSc) SSc. The purpose of this study was to describe objectively assessed shoulder-arm mobility, lower extremity muscle function and muscle endurance in SSc and evaluate possible differences between lcSSc and dcSSc. 121 patients with SSc were included in this cross sectional study. Shoulder-arm mobility were examined using the Shoulder Function Assessment Scale (SFA) including 5 tasks ,lower extremity muscle function was measured by Timed stands test (TST) and muscle endurance in shoulder- and hip flexors were assessed by the Functional Index 2 (FI-2). Patients with dcSSc had median SFA hand to back score 5 (4-6) and median “hand to seat” score of 5 (4-6) compared to patients with lcSSc with corresponding median values of 6 (4-6) and 6 (5-6) respectively (p<0.01-p<0.05). 50% of both patientsgroups had lower muscle function assessed by the TST compared to age- and gender matched reference values but there were no differences in TST between the two patient groups. There was no difference in FI-2 scores between dcSSc and lcSSc. The whole group had 40 (28-83) % and 38 (32-72) % of maximal FI-2 shoulder flexion score on the right and left sides, and 40 (23-63) % and 37 (23-62) % of maximal FI-2 hip flexion score on the right and left sides. Reference values for the FI-2 indicate that healthy individuals perform in mean 100 % of maximal score. Patients with dcSSc were more limited than patients with lcSSc. Patients with SSc have reduced muscle function compared to reference values. These results highlights the importance of assessing shoulder-arm mobility and muscle function as well as a need for further research to identify exercise interventions to target these limitations.Keywords: diffuse, limited, mobility, muscle function, physical therapy, systemic sclerosis
Procedia PDF Downloads 3843028 Assessment of E-Learning Facilities in Open and Distance Learning and Information Need by Students
Authors: Sabo Elizabeth
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Electronic learning is increasingly popular learning approach in higher educational institutions due to vast growth of internet technology. This approach is important in human capital development. An investigation of open distance and e-learning facilities and information need by open and distance learning students was carried out in Jalingo, Nigeria. Structured questionnaires were administered to 70 registered ODL students of the NOUN. Information sourced from the respondents covered demographic, economic and institutional variables. Data collected for demographic variables were computed as frequency count and percentages. Assessment of the effectiveness of ODL facilities and information need among open and distance learning students was computed on a three or four point Likert Rating Scale. Findings indicated that there are more men compared to women. A large proportion of the respondents are married and there are more matured students in ODL compared to the youth. A high proportion of the ODL students obtained qualifications higher than the secondary school certificate. The proportion of computer literate ODL students was high, and large number of the students does not own a laptop computer. Inadequate e -books and reference materials, internet gadgets and inadequate books (hard copies) and reference material are factors that limit utilization of e-learning facilities in the study areas. Inadequate computer facilities and power back up caused inconveniences and delay in administering and use of e learning facilities. To a high extent, open and distance learning students needed information on university time table and schedule of activities, availability and access to books (hard and e-books) and reference materials. The respondents emphasized that contact with course coordinators via internet will provide a better learning and academic performance.Keywords: open and distance learning, information required, electronic books, internet gadgets, Likert scale test
Procedia PDF Downloads 3183027 Comprehensive Multi-Omics Study Highlights Osteopontin/SPP1 in Ovarian Aging Control
Authors: Chia-Jung Li, Li-Te Lin, Kuan-Hao Tsui
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The study identifies SPP1 as a potential gene associated with ovarian aging, revealing a significant decline in its expression in aged ovaries. SPP1, also known as osteopontin (OPN), is a multifunctional glycoprotein involved with regulatory proteins and pro-inflammatory immune chemokines. However, its genetic links to ovarian aging have not been extensively explored. Spatial transcriptomic analyses were conducted on ovaries from young and aged female mice, along with a sample from a 73-year-old individual. Additionally, single-cell RNA sequencing analysis was performed to identify associations between SPP1 and key genes. The study focused on crucial genes, including ITGAV, ITGB1, CD44, MMP3, and FN1, with a particular emphasis on the correlation between SPP1 and ITGB1. The findings indicate a significant decline in SPP1 expression in aged ovaries, which was consistent in the 73-year-old sample. Single-cell RNA sequencing unveiled associations between SPP1 and key genes, emphasizing a strong co-expression correlation between SPP1 and ITGB1. While the study provides valuable insights, further research is necessary to understand the broader implications and potential applications of SPP1 in ovarian aging. Translating these findings to clinical settings requires careful consideration. The identification of SPP1 as a gene implicated in ovarian aging opens new avenues for advancing precision medicine and refining treatment strategies for conditions related to ovarian aging.Keywords: SPP1, ovarian aging, spatial transcriptomic, single-cell RNA sequencing
Procedia PDF Downloads 273026 Antibiotic Susceptibility Profile and Horizontal Gene Transfer in Pseudomonas sp. Isolated from Clinical Specimens
Authors: Sadaf Ilyas, Saba Riaz
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The extensive use of antibiotics has led to increases emergence of antibiotic-resistant organisms. Pseudomonas is a notorious opportunistic pathogen involoved in nosocomial infections and exhibit innate resistance to many antibiotics. The present study was conducted to assess the prevalence, levels of antimicrobial susceptibility and resistance mechanisms of Pseudomonas. A total of thirty clinical strains of Pseudomonas were isolated from different clinical sites of infection. All clinical specimens were collected from Chughtais Lahore Lab. Jail road, during 8-07-2010 to 11-01-2011. Biochemical characterization was done using routine biochemical tests. Antimicrobial susceptibility was determined by Kirby-Baeur method. The plasmids were isolated from all the strains and digested with restriction enzyme PstI and EcoRI. Transfer of Multi-resistance plasmid was checked via transformation and conjugation to confirm the plasmid mediated resistance to antibiotics. The prevalence of Pseudomonas in clinical specimens was found out to be 14% of all bacterial infections. IPM has shown to be the most effective drug against Pseudomonas followed by CES, PTB and meropenem, wheareas most of the Pseudomonas strains have developed significant resistance against Penicillins and some Cephalasporins. Antibiotic resistance determinants were carried by plasmids, as they conferred resistance to transformed K1 strains. The isolates readily undergo conjugation, transferring the resistant genes to other strains, illustrating the high rates of cross infection and nosocomial infection in the immunocompromised patients.Keywords: pseudomonas, antibiotics, drug resistance, horizontal gene transfer
Procedia PDF Downloads 3383025 Functional Profiling of a Circular RNA from the Huntingtin (HTT) Gene
Authors: Laura Gantley, Vanessa M. Conn, Stuart Webb, Kirsty Kirk, Marta Gabryelska, Duncan Holds, Brett W. Stringer, Simon J. Conn
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Trinucleotide repeat disorders comprise ~20 severe, inherited human neuromuscular and neurodegenerative disorders, which are a result of an abnormal expansion of repetitive sequences in the DNA. The most common of these, Huntington’s disease, results from the expansion of the CAG repeat region in exon 1 of the HTT gene via an unknown mechanism. Non-coding RNAs have been implicated in the initiation and progression of many diseases; thus, we focus on one circular RNA (circRNA) molecule arising from non-canonical splicing (back splicing) of HTT pre-mRNA. This circRNA and its mouse orthologue were transgenically overexpressed in human cells (SHSY-5Y and HEK293T) and mouse cells (Mb1), respectively. High-content imaging and flow cytometry demonstrated the overexpression of this circRNA reduces cell proliferation, reduces nuclear size independent of cellular size, and alters cell cycle progression. Analysis of protein by western blot and immunofluorescence demonstrated no change to HTT protein levels but altered nuclear-cytoplasmic distribution without impacting the expansion of the HTT repeat region. As these phenotypic and genotypic changes are found in Huntington’s disease patients, these results may suggest that this circRNA may play a functional role in the progression of Huntington’s disease.Keywords: cell biology, circular RNAs, Huntington’s disease, molecular biology, neurodegenerative disorders
Procedia PDF Downloads 933024 Teaching Italian Sign Language in Higher Education
Authors: Maria Tagarelli De Monte
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Since its formal recognition in 2021, Italian Sign Language (LIS) and interpreters’ education has become a topic for higher education in Italian universities. In April 2022, Italian universities have been invited to present their proposals to create sign language courses for interpreters’ training for both LIS and tactile LIS. As a result, a few universities have presented a three-year course leading candidate students from the introductory level to interpreters. In such a context, there is an open debate not only on the fact that three years may not be enough to prepare skillful interpreters but also on the need to refer to international standards in the definition of the training path to follow. Among these, are the Common European Framework of Reference (CEFR) for languages and Dublin’s descriptors. This contribution will discuss the potentials and the challenges given by LIS training in academic settings, by comparing traditional studies to the requests coming from universities. Particular attention will be given to the use of CEFR as a reference document for the Italian Sign Language Curriculum. Its use has given me the chance to reflect on how LIS can be taught in higher education, and the adaptations that need to be addressed to respect the visual-gestural nature of sign language and the formal requirements of academic settings.Keywords: Italian sign language, higher education, sign language curriculum, interpreters education, CEFR
Procedia PDF Downloads 373023 Processes Controlling Release of Phosphorus (P) from Catchment Soils and the Relationship between Total Phosphorus (TP) and Humic Substances (HS) in Scottish Loch Waters
Authors: Xiaoyun Hui, Fiona Gentle, Clemens Engelke, Margaret C. Graham
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Although past work has shown that phosphorus (P), an important nutrient, may form complexes with aqueous humic substances (HS), the principal component of natural organic matter, the nature of such interactions is poorly understood. Humic complexation may not only enhance P concentrations but it may change its bioavailability within such waters and, in addition, influence its transport within catchment settings. This project is examining the relationships and associations of P, HS, and iron (Fe) in Loch Meadie, Sutherland, North Scotland, a mesohumic freshwater loch which has been assessed as reference condition with respect to P. The aim is to identify characteristic spectroscopic parameters which can enhance the performance of the model currently used to predict reference condition TP levels for highly-coloured Scottish lochs under the Water Framework Directive. In addition to Loch Meadie, samples from other reference condition lochs in north Scotland and Shetland were analysed. By including different types of reference condition lochs (clear water, mesohumic and polyhumic water) this allowed the relationship between total phosphorus (TP) and HS to be more fully explored. The pH, [TP], [Fe], UV/Vis absorbance/spectra, [TOC] and [DOC] for loch water samples have been obtained using accredited methods. Loch waters were neutral to slightly acidic/alkaline (pH 6-8). [TP] in loch waters were lower than 50 µg L-1, and in Loch Meadie waters were typically <10 µg L-1. [Fe] in loch waters were mainly <0.6 mg L-1, but for some loch water samples, [Fe] were in the range 1.0-1.8 mg L-1and there was a positive correlation with [TOC] (r2=0.61). Lochs were classified as clear water, mesohumic or polyhumic based on water colour. The range of colour values of sampled lochs in each category were 0.2–0.3, 0.2–0.5 and 0.5–0.8 a.u. (10 mm pathlength), respectively. There was also a strong positive correlation between [DOC] and water colour (R2=0.84). The UV/Vis spectra (200-700 nm) for water samples were featureless with only a slight “shoulder” observed in the 270–290 nm region. Ultrafiltration was then used to separate colloidal and truly dissolved components from the loch waters and, since it contained the majority of aqueous P and Fe, the colloidal component was fractionated by gel filtration chromatography method. Gel filtration chromatographic fractionation of the colloids revealed two brown-coloured bands which had distinctive UV/Vis spectral features. The first eluting band had larger and more aromatic HS molecules than the second band, and in addition both P and Fe were primarily associated with the larger, more aromatic HS. This result demonstrated that P was able to form complexes with Fe-rich components of HS, and thus provided a scientific basis for the significant correlation between [Fe] and [TP] that the previous monitoring data of reference condition lochs from Scottish Environment Protection Agency (SEPA) showed. The distinctive features of the HS will be used as the basis for an improved spectroscopic tool.Keywords: total phosphorus, humic substances, Scottish loch water, WFD model
Procedia PDF Downloads 5423022 Numerical Simulation of Ultraviolet Disinfection in a Water Reactor
Authors: H. Shokouhmand, H. Sobhani, B. Sajadi, M. Degheh
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In recent years, experimental and numerical investigation of water UV reactors has increased significantly. The main drawback of experimental methods is confined and expensive survey of UV reactors features. In this study, a CFD model utilizing the eulerian-lagrangian framework is applied to analysis the disinfection performance of a closed conduit reactor which contains four UV lamps perpendicular to the flow. A discrete ordinates (DO) model was employed to evaluate the UV irradiance field. To investigate the importance of each of lamps on the inactivation performance, in addition to the reference model (with 4 bright lamps), several models with one or two bright lamps in various arrangements were considered. All results were reported in three inactivation kinetics. The results showed that the log inactivation of the two central bright lamps model was between 88-99 percent, close to the reference model results. Also, whatever the lamps are closer to the main flow region, they have more effect on microbial inactivation. The effect of some operational parameters such as water flow rate, inlet water temperature, and lamps power were also studied.Keywords: Eulerian-Lagrangian framework, inactivation kinetics, log inactivation, water UV reactor
Procedia PDF Downloads 2403021 A Comparative Soft Computing Approach to Supplier Performance Prediction Using GEP and ANN Models: An Automotive Case Study
Authors: Seyed Esmail Seyedi Bariran, Khairul Salleh Mohamed Sahari
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In multi-echelon supply chain networks, optimal supplier selection significantly depends on the accuracy of suppliers’ performance prediction. Different methods of multi criteria decision making such as ANN, GA, Fuzzy, AHP, etc have been previously used to predict the supplier performance but the “black-box” characteristic of these methods is yet a major concern to be resolved. Therefore, the primary objective in this paper is to implement an artificial intelligence-based gene expression programming (GEP) model to compare the prediction accuracy with that of ANN. A full factorial design with %95 confidence interval is initially applied to determine the appropriate set of criteria for supplier performance evaluation. A test-train approach is then utilized for the ANN and GEP exclusively. The training results are used to find the optimal network architecture and the testing data will determine the prediction accuracy of each method based on measures of root mean square error (RMSE) and correlation coefficient (R2). The results of a case study conducted in Supplying Automotive Parts Co. (SAPCO) with more than 100 local and foreign supply chain members revealed that, in comparison with ANN, gene expression programming has a significant preference in predicting supplier performance by referring to the respective RMSE and R-squared values. Moreover, using GEP, a mathematical function was also derived to solve the issue of ANN black-box structure in modeling the performance prediction.Keywords: Supplier Performance Prediction, ANN, GEP, Automotive, SAPCO
Procedia PDF Downloads 4113020 Expression of Slit Diaphragm Genes of Chicken Embryo Mesonephros
Authors: Mohammed Abdelsabour-Khalaf, F. Yusuf , B Brand-Saberi
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Purpose: Applications of nanotechnology nowadays extended to include a wide range of scientific areas such electron micrscopy and gene expression. The aim of the current study was to investigate the developmental expression pattern of genes involved in human glomerulo-nephropathies associated with massive proteinuria and podocyte differentiation using the chicken mesonephros as a model system. Method: We performed in situ hybridization using chicken specific mRNA probes for genes expressed in the early nephron and slit diaphragm genes. The probes used were cNeph1, cNeph2, cSim1, cLmx1b, and cAtoh8. Chicken embryos from Hamburger Hamilton developmental stage HH19 (E3) to HH 34 (E9) were used for the in situ hybridization (ISH). ISH was performed on whole mount embryos which were sectioned by vibratome. Results: Our result show that Neph1, Neph2, Sim1. Lmx1b and Atoh8 genes are dynamically expressed during nephron morphogenesis and Neph1 and Atoh8 are also specifically expressed in the podocytes during late stages of differentiation. Conclusion: We conclude from our results that the genes implicated in congenital and acquired glomerulo-nephropathies like Neph1 and Neph2 are dynamically expressed during mesonephros development pointing towards a role in the formation of the filtration barrier and the differentiation of the mesonephric podocytes. Thus the avian mesonephros could serve as a model to study human kidney diseases.Keywords: mesonephros, chicken embryo, gene expression, immunohistochemistry
Procedia PDF Downloads 6103019 Competition Between the Effects of Pesticides and Immune-activation on the Expression of Toll Pathway Genes
Authors: Dani Sukkar, Ali Kanso, Philippe Laval-Gilly, Jairo Falla-Angel
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The honeybees' immune system is challenged by different risk factors that induce various responses. However, complex scenarios where bees are exposed to different pesticides simultaneously with immune activation are not well evaluated. The Toll pathway is one of the main signaling pathways studied in invertebrate immune responses, and it is a good indicator of the effect of such complex interactions in addition to key signaling elements of other pathways like Relish of the immune deficiency (IMD) pathway or Eater, the phagocytosis receptor or vitellogenin levels. Honeybee hemocytes extracted from 5th instar larvae were exposed to imidacloprid and/or amitraz with or without the presence of the zymosan a as an immune activator. The gene expression of multiple immune related genes were studied, including spaetzle, Toll, myD88, relish, eater and vitellogenin, by real-time polymerase chain reaction after RNA extraction. The results demonstrated that the Toll pathway is mainly affected by the pesticides; imidacloprid and amitraz, especially by their different combinations. Furthermore, immune activation by zymosan A, a fungal cell-wall component, acts to mitigate to some extent the effect of pesticides on the different levels of the Toll pathway. In addition, imidacloprid, amitraz, and zymosan A have complex and context-specific interactions depending on the levels of immune activation and the pathway evaluated affecting immune-gene expression differently.Keywords: toll pathway, immune modulation, β-glucan, imidacloprid, amitraz, honeybees, immune genes
Procedia PDF Downloads 713018 Estimation of Solar Radiation Power Using Reference Evaluation of Solar Transmittance, 2 Bands Model: Case Study of Semarang, Central Java, Indonesia
Authors: Benedictus Asriparusa
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Solar radiation is a green renewable energy which has the potential to answer the needs of energy problems on the period. Knowing how to estimate the strength of the solar radiation force may be one solution of sustainable energy development in an integrated manner. Unfortunately, a fairly extensive area of Indonesia is still very low availability of solar radiation data. Therefore, we need a method to estimate the exact strength of solar radiation. In this study, author used a model Reference Evaluation of Solar Transmittance, 2 Bands (REST 2). Validation of REST 2 model has been performed in Spain, India, Colorado, Saudi Arabia, and several other areas. But it is not widely used in Indonesia. Indonesian region study area is represented by the area of Semarang, Central Java. Solar radiation values estimated using REST 2 model was then verified by field data and gives average RMSE value of 6.53%. Based on the value, it can be concluded that the model REST 2 can be used to estimate the value of solar radiation in clear sky conditions in parts of Indonesia.Keywords: estimation, solar radiation power, REST 2, solar transmittance
Procedia PDF Downloads 4233017 CRISPR-Mediated Genome Editing for Yield Enhancement in Tomato
Authors: Aswini M. S.
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Tomato (Solanum lycopersicum L.) is one of the most significant vegetable crops in terms of its economic benefits. Both fresh and processed tomatoes are consumed. Tomatoes have a limited genetic base, which makes breeding extremely challenging. Plant breeding has become much simpler and more effective with genome editing tools of CRISPR and CRISPR-associated 9 protein (CRISPR/Cas9), which address the problems with traditional breeding, chemical/physical mutagenesis, and transgenics. With the use of CRISPR/Cas9, a number of tomato traits have been functionally distinguished and edited. These traits include plant architecture as well as flower characters (leaf, flower, male sterility, and parthenocarpy), fruit ripening, quality and nutrition (lycopene, carotenoid, GABA, TSS, and shelf-life), disease resistance (late blight, TYLCV, and powdery mildew), tolerance to abiotic stress (heat, drought, and salinity) and resistance to herbicides. This study explores the potential of CRISPR/Cas9 genome editing for enhancing yield in tomato plants. The study utilized the CRISPR/Cas9 genome editing technology to functionally edit various traits in tomatoes. The de novo domestication of elite features from wild cousins to cultivated tomatoes and vice versa has been demonstrated by the introgression of CRISPR/Cas9. The CycB (Lycopene beta someri) gene-mediated Cas9 editing increased the lycopene content in tomato. Also, Cas9-mediated editing of the AGL6 (Agamous-like 6) gene resulted in parthenocarpic fruit development under heat-stress conditions. The advent of CRISPR/Cas has rendered it possible to use digital resources for single guide RNA design and multiplexing, cloning (such as Golden Gate cloning, GoldenBraid, etc.), creating robust CRISPR/Cas constructs, and implementing effective transformation protocols like the Agrobacterium and DNA free protoplast method for Cas9-gRNAs ribonucleoproteins (RNPs) complex. Additionally, homologous recombination (HR)-based gene knock-in (HKI) via geminivirus replicon and base/prime editing (Target-AID technology) remains possible. Hence, CRISPR/Cas facilitates fast and efficient breeding in the improvement of tomatoes.Keywords: CRISPR-Cas, biotic and abiotic stress, flower and fruit traits, genome editing, polygenic trait, tomato and trait introgression
Procedia PDF Downloads 573016 Identification and Characterisation of Oil Sludge Degrading Bacteria Isolated from Compost
Authors: O. Ubani, H. I. Atagana, M. S. Thantsha, R. Adeleke
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The oil sludge components (polycyclic aromatic hydrocarbons, PAHs) have been found to be cytotoxic, mutagenic and potentially carcinogenic and microorganisms such as bacteria and fungi can degrade the oil sludge to less toxic compounds such as carbon dioxide, water and salts. In the present study, we isolated different bacteria with PAH-degrading potentials from the co-composting of oil sludge and different animal manure. These bacteria were isolated on the mineral base medium and mineral salt agar plates as a growth control. A total of 31 morphologically distinct isolates were carefully selected from 5 different compost treatments for identification using polymerase chain reaction (PCR) of the 16S rDNA gene with specific primers (16S-P1 PCR and 16S-P2 PCR). The amplicons were sequenced and sequences were compared with the known nucleotides from the gene bank database. The phylogenetical analyses of the isolates showed that they belong to 3 different clades namely Firmicutes, Proteobacteria and Actinobacteria. These bacteria identified were closely related to genera Bacillus, Arthrobacter, Staphylococcus, Brevibacterium, Variovorax, Paenibacillus, Ralstonia and Geobacillus species. The results showed that Bacillus species were more dominant in all treated compost piles. Based on their characteristics these bacterial isolates have high potential to utilise PAHs of different molecular weights as carbon and energy sources. These identified bacteria are of special significance in their capacity to emulsify the PAHs and their ability to utilize them. Thus, they could be potentially useful for bioremediation of oil sludge and composting processes.Keywords: bioaugmentation, biodegradation, bioremediation, composting, oil sludge, PAHs, animal manures
Procedia PDF Downloads 2453015 Stability Design by Geometrical Nonlinear Analysis Using Equivalent Geometric Imperfections
Authors: S. Fominow, C. Dobert
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The present article describes the research that deals with the development of equivalent geometric imperfections for the stability design of steel members considering lateral-torsional buckling. The application of these equivalent imperfections takes into account the stiffness-reducing effects due to inelasticity and residual stresses, which lead to a reduction of the load carrying capacity of slender members and structures. This allows the application of a simplified design method, that is performed in three steps. Application of equivalent geometric imperfections, determination of internal forces using geometrical non-linear analysis (GNIA) and verification of the cross-section resistance at the most unfavourable location. All three verification steps are closely related and influence the results. The derivation of the equivalent imperfections was carried out in several steps. First, reference lateral-torsional buckling resistances for various rolled I-sections, slenderness grades, load shapes and steel grades were determined. This was done either with geometric and material non-linear analysis with geometrical imperfections and residual stresses (GMNIA) or for standard cases based on the equivalent member method. With the aim of obtaining identical lateral-torsional buckling resistances as the reference resistances from the application of the design method, the required sizes for equivalent imperfections were derived. For this purpose, a program based on the FEM method has been developed. Based on these results, several proposals for the specification of equivalent geometric imperfections have been developed. These differ in the shape of the applied equivalent geometric imperfection, the model of the cross-sectional resistance and the steel grade. The proposed design methods allow a wide range of applications and a reliable calculation of the lateral-torsional buckling resistances, as comparisons between the calculated resistances and the reference resistances have shown.Keywords: equivalent geometric imperfections, GMNIA, lateral-torsional buckling, non-linear finite element analysis
Procedia PDF Downloads 1493014 Career Anchors and Domain Specialization in Management Education: A Deviation Analysis
Authors: Santosh Kumar Sharma
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In view of management education with special reference to India, it has been noted that students have deviations between their career anchors and domain of specialization. As a consequence, they face problems in their summer internships and placements in the corporate sector. Eventually, they either change their career track or leave the management profession, which is a serious concern from the perspective of human capital. However, there is no substantial literature in the given context. Therefore, the present study contributes to the global discourse of management education and its spillover effect on human resource management. The objective of the present study is to analyze the deviation between career anchors and domain specialization with reference to management education in India. The present study is exploratory in nature, wherein data has been collected from a significant number of post-graduate students who are pursuing management education from a premium business school in India, followed by descriptive analysis. The present research contributes to the professional development of management students from the perspective of human capital, which is eventually related to various factors of the Indian economy.Keywords: India, management education, domain specialization, placements
Procedia PDF Downloads 753013 Association of Transforming Growth Factor-β1 Gene 1800469 C > T and 1982073 C > T Polymorphism with Type 2 Diabetic Foot Ulcer Patient in Cipto Mangunkusumo National Hospital Jakarta
Authors: Dedy Pratama, Akhmadu Muradi, Hilman Ibrahim, Patrianef Darwis, Alexander Jayadi Utama, Raden Suhartono, D. Suryandari, Luluk Yunaini, Tom Ch Adriani
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Objective: Diabetic Foot Ulcer (DFU) is one of the complications of Type 2 Diabetes Mellitus (T2DM) that can lead to disability and death. Inadequate vascularization condition will affect healing process of DFU. Therefore, we investigated the expression of polymorphism TGF- β1 in the relation of the occurrence of DFU in T2DM. Methods: We designed a case-control study to investigate the polymorphism TGF- β1 gene 1800469 C > T and 1982073 C > T in T2DM in Cipto Mangunkusumo National Hospital (RSCM) Jakarta from June to December 2016. We used PCR techniques and compared the results in a group of T2DM patients with DFU as the case study and without DFU as the control group. Results: There were 203 patients, 102 patients with DFU and 101 patients control without DFU. 49,8% is male and 50,2% female with mean age about 56 years. Distribution of wild-type genotype TGF-B1 1800469 C > T wild type CC was found in 44,8%, the number of mutant heterozygote CT was 10,8% and mutant homozygote is 11,3%. Distribution of TGF-B1 1982073 C>T wild type CC was 32,5%, mutant heterozygote is 38,9% and mutant homozygote 25,1%. Conclusion: Distribution of alleles from TGF-B1 1800469 C > T is C 75% and T 25% and from TGF-B1 1982073 C > T is C53,8% and T 46,2%. In the other word polymorphism TGF- β1 plays a role in the occurrence and healing process of the DFU in T2DM patients.Keywords: diabetic foot ulcers, diabetes mellitus, polymorphism, TGF-β1
Procedia PDF Downloads 2803012 Prevalence of Complement Factor H (Y402H) Gene Polymorphism and Its Impact on the Predisposition of Syrians to Age-Related Macular Degeneration (AMD) and Response to Bevacizumab Intravitreal Injection
Authors: Loubna Safar, Lama Youssef, Majd Aljamali
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Age-related macular degeneration (AMD) is one of the leading causes of blindness worldwide. Complement factor H polymorphism (Y402H) is thought to play a potential role in the predisposition to AMD and response of patients with exudative AMD to treatment with anti-Vascular Endothelial Growth Factor (anti-VEGF). This study aimed to investigate the frequency of Y402H among Syrians, its impact on their susceptibility to AMD, and the hypothesized role of Y402H in patients' response to intravitreal anti-VEGF (i.e.,, bevacizumab). Our case-control study encompassed unrelated 54 AMD cases and 44 controls. Genotyping was determined by standard sequencing of PCR products. Frequency was compared between patients and controls, and correlation between genotype and response to treatment was assessed in 20 patients with wet AMD who received a therapeutic course of three intravitreal bevacizumab injections (once monthly). Our results revealed a significantly higher prevalence of the risk allele C among AMD cases (51.9%) in comparison with controls (37.5%) (P= 0.04, OR= 1.386, CI= 0.999- 1.923). Patients with the TT genotype (no risk allele) exhibited a significantly better primary response rate, reached 87.5% compared to only 41.7% in patients carrying the risk allele C (TC + CC), (P= 0.04, OR= 9.8, CI=0.899- 106.84). The findings of this study prove the importance of investigating Y402H polymorphism as a prognostic marker for predicting response to bevacizumab in AMD patients.Keywords: age-related macular degeneration, bevacizumab, complement factor H gene, polymorphism, Y402H
Procedia PDF Downloads 1473011 Evaluating the Performance of Existing Full-Reference Quality Metrics on High Dynamic Range (HDR) Video Content
Authors: Maryam Azimi, Amin Banitalebi-Dehkordi, Yuanyuan Dong, Mahsa T. Pourazad, Panos Nasiopoulos
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While there exists a wide variety of Low Dynamic Range (LDR) quality metrics, only a limited number of metrics are designed specifically for the High Dynamic Range (HDR) content. With the introduction of HDR video compression standardization effort by international standardization bodies, the need for an efficient video quality metric for HDR applications has become more pronounced. The objective of this study is to compare the performance of the existing full-reference LDR and HDR video quality metrics on HDR content and identify the most effective one for HDR applications. To this end, a new HDR video data set is created, which consists of representative indoor and outdoor video sequences with different brightness, motion levels and different representing types of distortions. The quality of each distorted video in this data set is evaluated both subjectively and objectively. The correlation between the subjective and objective results confirm that VIF quality metric outperforms all to their tested metrics in the presence of the tested types of distortions.Keywords: HDR, dynamic range, LDR, subjective evaluation, video compression, HEVC, video quality metrics
Procedia PDF Downloads 5123010 Gold Nanoprobes Assay for the Identification of Foodborn Pathogens Such as Staphylococcus aureus, Listeria monocytogenes and Salmonella enteritis
Authors: D. P. Houhoula, J. Papaparaskevas, S. Konteles, A. Dargenta, A. Farka, C. Spyrou, M. Ziaka, S. Koussisis, E. Charvalos
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Objectives: Nanotechnology is providing revolutionary opportunities for the rapid and simple diagnosis of many infectious diseases. Staphylococcus aureus, Listeria monocytogenes and Salmonella enteritis are important human pathogens. Diagnostic assays for bacterial culture and identification are time consuming and laborious. There is an urgent need to develop rapid, sensitive, and inexpensive diagnostic tests. In this study, a gold nanoprobe strategy developed and relies on the colorimetric differentiation of specific DNA sequences based approach on differential aggregation profiles in the presence or absence of specific target hybridization. Method: Gold nanoparticles (AuNPs) were purchased from Nanopartz. They were conjugated with thiolated oligonucleotides specific for the femA gene for the identification of members of Staphylococcus aureus, the mecA gene for the differentiation of Staphylococcus aureus and MRSA Staphylococcus aureus, hly gene encoding the pore-forming cytolysin listeriolysin for the identification of Listeria monocytogenes and the invA sequence for the identification of Salmonella enteritis. DNA isolation from Staphylococcus aureus Listeria monocytogenes and Salmonella enteritis cultures was performed using the commercial kit Nucleospin Tissue (Macherey Nagel). Specifically 20μl of DNA was diluted in 10mMPBS (pH5). After the denaturation of 10min, 20μl of AuNPs was added followed by the annealing step at 58oC. The presence of a complementary target prevents aggregation with the addition of acid and the solution remains pink, whereas in the opposite event it turns to purple. The color could be detected visually and it was confirmed with an absorption spectrum. Results: Specifically, 0.123 μg/μl DNA of St. aureus, L.monocytogenes and Salmonella enteritis was serially diluted from 1:10 to 1:100. Blanks containing PBS buffer instead of DNA were used. The application of the proposed method on isolated bacteria produced positive results with all the species of St. aureus and L. monocytogenes and Salmonella enteritis using the femA, mecA, hly and invA genes respectively. The minimum detection limit of the assay was defined at 0.2 ng/μL of DNA. Below of 0.2 ng/μL of bacterial DNA the solution turned purple after addition of HCl, defining the minimum detection limit of the assay. None of the blank samples was positive. The specificity was 100%. The application of the proposed method produced exactly the same results every time (n = 4) the evaluation was repeated (100% repeatability) using the femA, hly and invA genes. Using the gene mecA for the differentiation of Staphylococcus aureus and MRSA Staphylococcus aureus the method had a repeatability 50%. Conclusion: The proposed method could be used as a highly specific and sensitive screening tool for the detection and differentiation of Staphylococcus aureus Listeria monocytogenes and Salmonella enteritis. The use AuNPs for the colorimetric detection of DNA targets represents an inexpensive and easy-to-perform alternative to common molecular assays. The technology described here, may develop into a platform that could accommodate detection of many bacterial species.Keywords: gold nanoparticles, pathogens, nanotechnology, bacteria
Procedia PDF Downloads 3353009 Nourishing the Hive: The Interplay of Nutrition, Gene Expression, and Queen Egg-Laying in Honeybee Colonies
Authors: Damien P. Fevre, Peter K. Dearden
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Honeybee population sustainability is a critical concern for environmental stability and human food security. The success of a colony relies heavily on the egg-laying capacity of the queen, as it determines the production of thousands of worker bees who, in turn, perform essential functions in foraging and transforming food to make it digestible for the colony. The main sources of nutrition for honeybees are nectar, providing carbohydrates, and pollen, providing protein. This study delves into the impact of the proportion of these macronutrients on the food consumption patterns of nurse bees responsible for feeding the queen and how it affects the characteristics of the eggs produced. Using nutritional geometry, qRT-PCR, and RNA-seq analysis, this study sheds light on the pivotal role of nutrition in influencing gene expression in nurse bees, honeybee queen egg-laying capacity and embryonic development. Interestingly, while nutrition is crucial, the queen's genotype plays an even more significant role in this complex relationship, highlighting the importance of genotype-by-environment interactions. Understanding the interplay between genotype and nutrition is key to optimizing beekeeping management and strategic queen breeding practices. The findings from this study have significant implications for beekeeping practices, emphasizing the need for an appropriate nutrition to support the social nutrition of Apis mellifera. Implementing these insights can lead to improved colony health, increased productivity, and sustainable honeybee conservation efforts.Keywords: honeybee, egg-laying, nutrition, transcriptomics
Procedia PDF Downloads 793008 Mapping Crime against Women in India: Spatio-Temporal Analysis, 2001-2012
Authors: Ritvik Chauhan, Vijay Kumar Baraik
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Women are most vulnerable to crime despite occupying central position in shaping a society as the first teacher of children. In India too, having equal rights and constitutional safeguards, the incidences of crime against them are large and grave. In this context of crime against women, especially rape has been increasing over time. This paper explores the spatial and temporal aspects of crime against women in India with special reference to rape. It also examines the crime against women with its spatial, socio-economic and demographic associates using related data obtained from the National Crime Records Bureau India, Indian Census and other government sources of the Government of India. The simple statistical, choropleth mapping and other cartographic representation methods have been used to see the crime rates, spatio-temporal patterns of crime, and association of crime with its correlates. The major findings are visible spatial variations across the country and are also in the rising trends in terms of incidence and rates over the reference period. The study also indicates that the geographical associations are somewhat observed. However, selected indicators of socio-economic factors seem to have no significant bearing on crime against women at this level.Keywords: crime against women, crime mapping, trend analysis, society
Procedia PDF Downloads 3203007 Behaviour of Hybrid Steel Fibre Reinforced High Strength Concrete
Authors: Emdad K. Z. Balanji, M. Neaz Sheikh, Muhammad N. S. Hadi
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This paper presents results of an experimental investigation on the behaviour of Hybrid Steel Fibre Reinforced High Strength Concrete (HSFR-HSC) cylinder specimens (150 mm x 300 mm) under uniaxial compression. Three different combinations of HSFR-HSC specimens and reference specimens without steel fibres were prepared. The first combination of HSFR-HSC included 1.5% Micro Steel (MS) fibre and 1% Deformed Steel (DS) fibre. The second combination included 1.5% MS fibre and 1.5% Hooked-end Steel (HS) fibre. The third combination included 1% DS fibre and 1.5% HS fibre. The experimental results showed that the addition of hybrid steel fibres improved the ductility of high strength concrete. The combination of MS fibre and HS fibre in high strength concrete mixes showed best stress-strain behaviour compared to the other combinations and the reference specimens.Keywords: high strength concrete, micro steel fibre (MS), deformed steel fibre (DS), hooked-end steel fibre (HS), hybrid steel fibre
Procedia PDF Downloads 5353006 SNP g.1007A>G within the Porcine DNAL4 Gene Affects Sperm Motility Traits
Authors: I. Wiedemann, A. R. Sharifi, A. Mählmeyer, C. Knorr
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A requirement for sperm motility is a morphologically intact flagellum with a central axoneme. The flagellar beating is caused by the varying activation and inactivation of dynein molecules which are located in the axoneme. DNAL4 (dynein, axonemal, light chain 4) is regarded as a possible functional candidate gene encoding a small subunit of the dyneins. In the present study, 5814bp of the porcine DNAL4 (GenBank Acc. No. AM284696.1, 6097 bp, 4 exons) were comparatively sequenced using three boars with a high motility (>68%) and three with a low motility (<60%). Primers were self-designed except for those covering exons 1, 2 and 3. Prior to sequencing, the PCR products were purified. Sequencing was performed with an ABI PRISM 3100 Genetic Analyzer using the BigDyeTM Terminator v3.1 Cycle Sequencing Reaction Kit. Finally, 23 SNPs were described and genotyped for 82 AI boars representing the breeds Piétrain, German Large White and German Landrace. The genotypes were used to assess possible associations with standard spermatological parameters (ejaculate volume, density, and sperm motility (undiluted (Motud), 24h (Mot1) and 48h (Mot2) after semen collection) that were regularly recorded on the AI station. The analysis included a total of 8,833 spermatological data sets which ranged from 2 to 295 sets per boar in five years. Only SNP g.1007A>G had a significant effect. Finally, the gene substitution effect using the following statistical model was calculated: Yijk= µ+αi+βj+αβij+b1Sijk+b2Aijk+b3T ijk + b4Vijk+b5(α*A)ijk +b6(β*A)ijk+b7(A*T)ijk+Uijk+eijk where Yijk is the semen characteristics, µ is the general mean, α is the main effect of breed, β is the main effect of season, S is the effect of SNP (g.1007A > G), A is the effect of age at semen collection, V is the effect of diluter, αβ, α*A, β*A, A*T are interactions between the fixed effects, b1-b7 are regression coefficients between y and the respective covariate, U is the random effect of repeated observation on animal and e is the random error. The results from the single marker regression analysis revealed highly significant effects (p < 0.0001) of SNP g.1007A > G on Mot1 resp. on Mot2, resulting in a marked reduction by 11.4% resp. 15.4%. Furthermore a loss of Motud by 4.6% was detected (p < 0.0178). Considering the SNP g.1007A > G as a main factor (dominant-recessive model), significant differences between genotypes AA and AG as well as AA and GG for Mot1 and Mot2 exist. For Motud there was a significant difference between AA and GG.Keywords: association, DNAL4, porcine, sperm traits
Procedia PDF Downloads 4453005 The Application of Article 111 of the Constitution of Bangladesh in the Criminal Justice System as a Sentencing Guideline
Authors: Sadiya S. Silvee
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Generally, the decision of the higher court is binding on its subordinate courts. As provided in Article 111 of the Constitution, 'the law declared by the Appellate Division (AD) shall be binding on the High Court Division (HCD) and the law declared by either division of the Supreme Court shall be binding on all courts subordinate to it.' This means the judicial discipline requires the HCD to follow the decision of the AD and that it is necessary for the lower tiers of courts to accept the decision of the higher tiers as a binding precedent. Analyzing the application of Article 111 of the Constitution in the criminal justice system as a sentencing guideline, the paper, by examining whether there is any consistency in decision between one HC Bench and another HC Bench, explores whether HCD can per incuriam its previous decision. In doing so, the Death Reference (DR) Cases are contemplated. Furthermore, the paper shall examine whether the Court of Session follows the decision of the HCD while using their discretion to make the choice between death and imprisonment for life under section 302 of PC. The paper argues due to the absence of any specific direction for sentencing and inconsistency in jurisprudence among the HCD; the subordinate courts are in a dilemma.Keywords: death reference, sentencing factor, sentencing guideline, criminal justice system and constitution
Procedia PDF Downloads 1633004 DNA Barcoding Application in Study of Icthyo- Biodiversity in Rivers of Pakistan
Authors: Asma Karim
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Fish taxonomy plays a fundamental role in the study of biodiversity. However, traditional methods of fish taxonomy rely on morphological features, which can lead to confusion due to great similarities between closely related species. To overcome this limitation, modern taxonomy employs DNA barcoding as a species identification method. This involves using a short standardized mitochondrial DNA region as a barcode, specifically a 658 base pair fragment near the 5′ ends of the mitochondrial cytochrome c oxidase subunit 1 (CO1) gene, to exploit the diversity in this region for identification of species. To test the effectiveness and reliability of DNA barcoding, 25 fish specimens from nine different fish species found in various rivers of Pakistan were identified morphologically using a dichotomous key at the start of the study. Comprising nine freshwater fish species, including Mystus cavasius, Mystus bleekeri, Osteobrama cotio, Labeo rohita, Labeo culbasu, Labeo gonius, Cyprinus carpio, Catla catla and Cirrhinus mrigala from different rivers of Pakistan were used in the present study. DNA was extracted from one of the pectoral fins and a partial sequence of CO1 gene was amplified using the conventional PCR method. Analysis of the barcodes confirmed that genetically identified fishes were the same as those identified morphologically at the beginning of the study. The sequences were also analyzed for biodiversity and phylogenetic studies. Based on the results of the study, it can be concluded that DNA barcoding is an effective and reliable method for studying biodiversity and conducting phylogenetic analysis of different fish species in Pakistan.Keywords: DNA barcoding, fresh water fishes, taxonomy, biodiversity, Pakistan
Procedia PDF Downloads 973003 Benchmarking Electric Light versus Sunshine
Authors: Courret Gilles, Pidoux Damien
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Considering that sunshine is the ultimate reference in lighting, we have examined the spectral correlation between a series of electric light sources and sunlight. As the latter is marked by fluctuations, we have taken two spectra of reference: on the one hand, the CIE daylight standard illuminant, and on the other hand, the global illumination by the clear sky with the sun at 30° above the horizon. We determined the coefficients of correlation between the spectra filtered by the sensitivity of the CIE standard observer for photopic vision. We also calculated the luminous efficiency of the radiation in order to compare the ideal energy performances as well as the CIE color indexes Ra, Ra14, and Rf, since the choice of a light source requires a trade-off between color rendering and luminous efficiency. The benchmarking includes the most commonly used bulbs, various white LED (Lighting Emitting Diode) of warm white or cold white types, incandescent halogen as well as two HID lamps (High-Intensity Discharge) and two plasma lamps of different types, a solar simulator and a new version of the sulfur lamp. The latter obtains the best correlation, whether in comparison with the solar spectrum or that of the standard illuminant.Keywords: electric light sources, plasma lamp, daylighting, sunlight, spectral correlation
Procedia PDF Downloads 1743002 Haemoglobin Variants and Their Frequency Distribution in Human Population of Niger State, Nigeria
Authors: Akeem Akinboro, Bala Alhaj Kegun
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Haemoglobinopathy is a genetic disorder that has the potentiality to cause death of individuals in whom both the alpha (α) and beta (β) globin chains of the haemoglobin molecule are defective due to mutations in their genes. The haemoglobin genotype variants among some residents of Niger state, Nigeria, were determined using the secondary data available at Bida, Minna and Kotangora general hospitals of the state. A total of 1,639 data, representing 434, 655 and 550, collected from the outside patients who visited the medical laboratory units of the three general hospitals, respectively, over five years period (2015-2020) were analyzed into gene frequency, sex and age to determine their haemoglobin genotypes status. More males (51.6 – 58.7%) than females (41.3 – 48.4%) visited the three hospitals during the period covered and most of the patients were between 11 - 20 years old. The frequency of HbA allele in the human population was 0.72, 0.65, 0.68 for Bida, Minna and Kotangora, respectively, while it was 0.25, 0.29 and 0.28 for HbS allele. The HbC allele was prevalent at 0.03, 0.06 and 0.05 among the human population in Bida, Minna and Kotangora cities of Niger state. In overall, the prevalence of HbA, HbS and HbC alleles in Niger state of Nigeria was 0.68, 0.28 and 0.05. Minna being the capital city of Niger state and the most populous among the three cities in the state seems to have influx of more people who are carriers of abnormal haemoglobin genotypes which has resulted to higher frequency of HbS and HbC than those of the other two cities in this study. These results show that the pattern of haemoglobin genotypes frequency of Kontagora could be a prediction for the whole of Niger state. It is therefore necessary and important to take screening of blood for haemoglobin genotype serious among intending couples to prevent and reduce the possibility of having increase in the number of people with abnormal haemoglobin genotypes in the state.Keywords: haemoglobin, genotype, niger state, gene frequency, general hospitals
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