648 research outputs found

    DNA Sequencing Resolves Misdiagnosed and Rare Genetic Disorders

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    This chapter focuses on the mandatory requirement of DNA sequencing approaches for genetic diagnosis and recurrence prevention of inherited diseases. Sequencing the DNA and coded transcripts has intensely promoted our understanding of functional genomics and the fundamental importance of non-coding genomic sequences in causing heritable diseases, when mutated. Though Sanger sequencing, the first employed approach in identifying genetic mutations has been replaced nowadays in many laboratories with the highly robust massive parallel sequencing techniques, “Sanger” remains vital in countries with limited resources and also of essential importance in validating the results of large scale sequencing technologies. Next generation sequencing (NGS) enabled the parallel sequencing of the whole exome (WES) and whole genome (WGS) regions of human genome and has revolutionized the field of genetic and genomic research in human. WES and WGS have facilitated the identification of the role of previously unrecognized genes in causing neurologic phenotypes, brain structural malformation, and resolved the causal genes in puzzling and misdiagnosed genetic phenotypes. Role of fusion genes and non-coding RNA in causing neurogenetic recessive diseases has been uncovered by the application of NGS platforms, published examples are presented in this chapter. Extensive phenotypic variability that retained patients either as misdiagnosed or undiagnosed cases for years has been correctly diagnosed through NGS research applications

    An algorithm for optimal sizing of the capacitor banks under non-sinusoidal and unbalanced conditions

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    In non-sinusoidal and unbalanced systems, optimal sizing of the capacitor banks is not a straightforward task as in sinusoidal and balanced systems. In this paper, by means of qualitative and quantitative analysis, it is interpreted that the classical capacitor selection algorithm widely implemented in Reactive Power Control (RPC) relays does not achieve optimal power factor improvement in non-sinusoidal and unbalanced systems. Accordingly, a computationally efficient algorithm is proposed to find the optimal capacitor bank for smart RPC relays. It is further shown in a simulated test case by using Matlab software that the proposed algorithm provides better power factor improvement when compared with the classical algorithm. It is also figured out from the simulation results that both algorithms cause almost the same harmonic distortion and unbalance deterioration levels in the system

    A filter design approach to maximize ampacity of cables in nonsinusoidal power systems

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    This paper presents an optimal design of the C-type passive filters for the effective utilization of the power cables under nonsinusoidal conditions based on maximization of the harmonic derating factor (HDF) of a power cable, where maintaining the load true power factor at an acceptable range is desired. According to IEEE Standard 519, the total harmonic distortions of the voltage and current measured at the point of common coupling are taken into account as main constraints of the proposed approach. The presented numerical results show that the proposed approach provides higher current carrying capacity, or ampacity of the cables under nonsinusoidal conditions when compared to the traditional approaches based on minimization of the current total harmonic distortion and maximization of the true load power factor. A numerical case study is presented to demonstrate the proposed approach

    Optimal design of single-tuned passive filters using response surface methodology

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    This paper presents an approach based on Response Surface Methodology (RSM) to find the optimal parameters of the single-tuned passive filters for harmonic mitigation. The main advantages of RSM can be underlined as easy implementation and effective computation. Using RSM, the single-tuned harmonic filter is designed to minimize voltage total harmonic distortion (THDV) and current total harmonic distortion (THDI). Power factor (PF) is also incorporated in the design procedure as a constraint. To show the validity of the proposed approach, RSM and Classical Direct Search (Grid Search) methods are evaluated for a typical industrial power system

    Case Report: Management of unusual site for contrast media extravasation in right external jugular vein

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    AbstractContrast media extravasation is well known complication during power/pressure injection of contrast material. Despite reports of many cases of extravasation few consequences have been reported. We present a very rare case of contrast media extravasation in the neck after right external jugular vein cannulation which mandated early surgical intervention. On literature search, we did not find any similar report of such unique case

    Bacteriological and Molecular Identification of Thermophilic Campylobacters of Animal and Human Origins in Beni-Suef Governorate, Egypt

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    Thermophilic species of the genus Campylobacter are generally considered commensals of livestock and the leading cause of bacterial food-borne zoonoses. The present study was delineated to clarify the role of Campylobacter species as a diarrheagenic pathogen in animals and man and to investigate the fecal carriage rate of Campylobacters in animals and in-contact humans. A total number of 78 fecal samples were collected from diarrheic and non-diarrheic cattle (n=26), sheep (n=28) and humans (n=24). Samples were enriched in Preston broth, followed by streaking on selective Campylobacter agar base medium. The suspected colonies were tested morphologically and biochemically. Campylobacter spp. was recovered from 29 (37.17%) out of 78 fecal samples (34.61%, 42.85% and 33.33%) for cattle, sheep and humans, respectively. Positive correlation between the occurrence of diarrhea and the isolation of Campylobacters was observed in samples of human origin while in adult ruminants particularly sheep, high fecal carriage rate was observed in non-diarrheic animals. The isolates were identified to genus and species levels by polymerase chain reaction targeting the 16S rRNA gene, the mapA gene and the ceuE gene which revealed that all of isolates were Campylobacter jejuni. These findings pose a significant epidemiological implication where cattle and sheep act as vehicles of, and excrete Campylobacter jejuni which is capable of causing disease in the local community in the area of investigation

    EXTRACTION, ISOLATION, AND CHARACTERIZATION OF BIOACTIVE COMPOUNDS AND ESSENTIAL OIL FROM SYZYGIUM JAMBOS

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    Objectives: Over the past few decades, phenolic compounds become important due to it has been associated with protection against different diseasesand sensory point of vision. Hence, at the present study, there has been a growing interest to carry out structural elucidation and characterization ofthe pure isolates from Syzygium jambos.Methods: S. jambos dried powder leaves were extracted by soaking in 85% methanol solvent at room temperature 25±2°C. The antioxidative activityof the isolates was assessed according to 2,2'-diphenyl-1-picrylhydrazyl (DPPH) free radical scavenging and phosphomolybdenum assays.Results: A total of 8 compounds were isolated from the n-butanol extract of S. jambos (Family Myrtaceae) plant, they were identified as quercetin-3-O-rutinoside (1), prenylbenzoic acid 4-β-D-glucoside (2), morolic acid 3-O-caffeate (3), 5,4'-dihydroxy, 7-methoxy, 6-methyl-flavone (4),3,4,5-trihydroxybenzoic acid (5), quercetin (6), isoetin-7-O-β-D-glucopyranoside (7), and (4'-hydroxy-3'-methoxyphenol-β-D-[6-O-(4â€-hydroxy-3â€,5â€-dimethoxylbenzoate)] glucopyranoside) (8). Compounds 5 and 6 showed the most radical scavengers among the tested compounds with SC50 values of5.50 and 4.30 μg/ml, respectively, compared to ascorbic acid as standard and the total antioxidant capacity (TAC) values of 605.0 and 680.59 mg ascorbicacid equivalent/g compound, respectively. In vitro antimicrobial activities of the isolated compounds were tested using disc agar plate method againstfour pathogenic microbial strains including Gram-positive, Gram-negative bacteria and yeast with inhibition zones from 9 to 19 mm. Gas chromatographymassspectrometry analysis for the essential oil provides twenty four identified components representing 92% of its total oil composition.Conclusion: The results supported that S. jambos could be attributed to sources of natural antioxidant and antimicrobial applications

    The Effectiveness of a Program Based on Blended Learning in Developing Business Management and Decision-Making Skills Among Female Students of Samtah University College

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    The aim of this paper is to build a program based on blended learning to develop business management skills and decision-making skills. The research relied on the semi-experimental approach, one group application (pre-post), and the research sample consisted of (62) female students from the University College, Department of Home Economics. To achieve the objectives of the research, a test was prepared in business administration skills, including technical skills, communication skills, analytical skills, administrative skills, the test consisted of twenty items, the validity and reliability of the test were measured, and a test was prepared in decision-making skills, including the skills of setting goals and analyzing the problem, identifying alternatives and solutions, providing justifications for solutions, choosing the alternative, making the decision, implementing it and following it up, and the test consisted of (20) items, With measuring the validity and reliability of the test. The program based on blended learning was also developed by defining the foundations of the program, its objectives, scientific content, and scientific activities, with defining methods of implementing the program, methods of evaluation, and after field application procedures, the results of the research showed the effectiveness of the program based on blended learning in developing business management skills and decision-making skills. Among university college students, as the results of the research showed, there are statistically significant differences at the level of significance (0.01 ≥ α) between the mean scores of the research sample students in the pre and post applications of the business management skills test in favor of the post application. And there are statistically significant differences at the level of significance (0.01 ≥ α) between the mean scores of the research sample students in the pre and post applications to test decision-making skills in favor of the post application. It also showed the effectiveness of the program based on blended learning in developing decision-making skills in general, and each skill separately, with a positive correlation between the scores of the experimental group students in the post-application test of business management skills and the test of decision-making skills. The relationship between the development of business management skills and decision-making skills during the program based on blended education. The research recommended the employment of blended learning in university education, which provides many educational opportunities and paths, because it is distinguished by its integration and combination of the advantages of traditional learning and e-learning. tuition at the university
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