Search results for: process hygiene criteria
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 17219

Search results for: process hygiene criteria

9089 Plants as Alternative Covers at Contaminated Sites

Authors: M. Grifoni, G. Petruzzelli, M. Barbafieri, I. Rosellini, B. Pezzarossa, F. Pedron

Abstract:

Evapotranspiration (ET) covers are an alternative cover system that utilizes water balance approach to maximize the ET process to reduce the contaminants leaching through the soil profile. Microcosm tests allow to identify in a short time the most suitable plant species to be used as alternative covers, their survival capacity, and simultaneously the transpiration and evaporation rate of the cover in a specific contaminated soil. This work shows the soil characterization and ET results of microcosm tests carried out on two contaminated soils by using Triticum durum and Helianthus annuus species. The data indicated that transpiration was higher than evaporation, supporting the use of plants as alternative cover at this contaminated site.

Keywords: contaminated sites, evapotranspiration cover, evapotranspiration, microcosm experiments

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9088 Sintering of YNbO3:Eu3+ Compound: Correlation between Luminescence and Spark Plasma Sintering Effect

Authors: Veronique Jubera, Ka-Young Kim, U-Chan Chung, Amelie Veillere, Jean-Marc Heintz

Abstract:

Emitting materials and all solid state lasers are widely used in the field of optical applications and materials science as a source of excitement, instrumental measurements, medical applications, metal shaping etc. Recently promising optical efficiencies were recorded on ceramics which result from a cheaper and faster ways to obtain crystallized materials. The choice and optimization of the sintering process is the key point to fabricate transparent ceramics. It includes a high control on the preparation of the powder with the choice of an adequate synthesis, a pre-heat-treatment, the reproducibility of the sintering cycle, the polishing and post-annealing of the ceramic. The densification is the main factor needed to reach a satisfying transparency, and many technologies are now available. The symmetry of the unit cell plays a crucial role in the diffusion rate of the material. Therefore, the cubic symmetry compounds having an isotropic refractive index is preferred. The cubic Y3NbO7 matrix is an interesting host which can accept a high concentration of rare earth doping element and it has been demonstrated that SPS is an efficient way to sinter this material. The optimization of diffusion losses requires a microstructure of fine ceramics, generally less than one hundred nanometers. In this case, grain growth is not an obstacle to transparency. The ceramics properties are then isotropic thereby to free-shaping step by orienting the ceramics as this is the case for the compounds of lower symmetry. After optimization of the synthesis route, several SPS parameters as heating rate, holding, dwell time and pressure were adjusted in order to increase the densification of the Eu3+ doped Y3NbO7 pellets. The luminescence data coupled with X-Ray diffraction analysis and electronic diffraction microscopy highlight the existence of several distorted environments of the doping element in the studied defective fluorite-type host lattice. Indeed, the fast and high crystallization rate obtained to put in evidence a lack of miscibility in the phase diagram, being the final composition of the pellet driven by the ratio between niobium and yttrium elements. By following the luminescence properties, we demonstrate a direct impact on the SPS process on this material.

Keywords: emission, niobate of rare earth, Spark plasma sintering, lack of miscibility

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9087 Measuring Biobased Content of Building Materials Using Carbon-14 Testing

Authors: Haley Gershon

Abstract:

The transition from using fossil fuel-based building material to formulating eco-friendly and biobased building materials plays a key role in sustainable building. The growing demand on a global level for biobased materials in the building and construction industries heightens the importance of carbon-14 testing, an analytical method used to determine the percentage of biobased content that comprises a material’s ingredients. This presentation will focus on the use of carbon-14 analysis within the building materials sector. Carbon-14, also known as radiocarbon, is a weakly radioactive isotope present in all living organisms. Any fossil material older than 50,000 years will not contain any carbon-14 content. The radiocarbon method is thus used to determine the amount of carbon-14 content present in a given sample. Carbon-14 testing is performed according to ASTM D6866, a standard test method developed specifically for biobased content determination of material in solid, liquid, or gaseous form, which requires radiocarbon dating. Samples are combusted and converted into a solid graphite form and then pressed onto a metal disc and mounted onto a wheel of an accelerator mass spectrometer (AMS) machine for the analysis. The AMS instrument is used in order to count the amount of carbon-14 present. By submitting samples for carbon-14 analysis, manufacturers of building materials can confirm the biobased content of ingredients used. Biobased testing through carbon-14 analysis reports results as percent biobased content, indicating the percentage of ingredients coming from biomass sourced carbon versus fossil carbon. The analysis is performed according to standardized methods such as ASTM D6866, ISO 16620, and EN 16640. Products 100% sourced from plants, animals, or microbiological material are therefore 100% biobased, while products sourced only from fossil fuel material are 0% biobased. Any result in between 0% and 100% biobased indicates that there is a mixture of both biomass-derived and fossil fuel-derived sources. Furthermore, biobased testing for building materials allows manufacturers to submit eligible material for certification and eco-label programs such as the United States Department of Agriculture (USDA) BioPreferred Program. This program includes a voluntary labeling initiative for biobased products, in which companies may apply to receive and display the USDA Certified Biobased Product label, stating third-party verification and displaying a product’s percentage of biobased content. The USDA program includes a specific category for Building Materials. In order to qualify for the biobased certification under this product category, examples of product criteria that must be met include minimum 62% biobased content for wall coverings, minimum 25% biobased content for lumber, and a minimum 91% biobased content for floor coverings (non-carpet). As a result, consumers can easily identify plant-based products in the marketplace.

Keywords: carbon-14 testing, biobased, biobased content, radiocarbon dating, accelerator mass spectrometry, AMS, materials

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9086 Analyzing Transit Network Design versus Urban Dispersion

Authors: Hugo Badia

Abstract:

This research answers which is the most suitable transit network structure to serve specific demand requirements in an increasing urban dispersion process. Two main approaches of network design are found in the literature. On the one hand, a traditional answer, widespread in our cities, that develops a high number of lines to connect most of origin-destination pairs by direct trips; an approach based on the idea that users averse to transfers. On the other hand, some authors advocate an alternative design characterized by simple networks where transfer is essential to complete most of trips. To answer which of them is the best option, we use a two-step methodology. First, by means of an analytical model, three basic network structures are compared: a radial scheme, starting point for the other two structures, a direct trip-based network, and a transfer-based one, which represent the two alternative transit network designs. The model optimizes the network configuration with regard to the total cost for each structure. For a scenario of dispersion, the best alternative is the structure with the minimum cost. This dispersion degree is defined in a simple way considering that only a central area attracts all trips. If this area is small, we have a high concentrated mobility pattern; if this area is too large, the city is highly decentralized. In this first step, we can determine the area of applicability for each structure in function to that urban dispersion degree. The analytical results show that a radial structure is suitable when the demand is so centralized, however, when this demand starts to scatter, new transit lines should be implemented to avoid transfers. If the urban dispersion advances, the introduction of more lines is no longer a good alternative, in this case, the best solution is a change of structure, from direct trips to a network based on transfers. The area of applicability of each network strategy is not constant, it depends on the characteristics of demand, city and transport technology. In the second step, we translate analytical results to a real case study by the relationship between the parameters of dispersion of the model and direct measures of dispersion in a real city. Two dimensions of the urban sprawl process are considered: concentration, defined by Gini coefficient, and centralization by area based centralization index. Once it is estimated the real dispersion degree, we are able to identify in which area of applicability the city is located. In summary, from a strategic point of view, we can obtain with this methodology which is the best network design approach for a city, comparing the theoretical results with the real dispersion degree.

Keywords: analytical network design model, network structure, public transport, urban dispersion

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9085 Effect of Pulp Density on Biodesulfurization of Mongolian Lignite Coal

Authors: Ashish Pathak, Dong-Jin Kim, Byoung-Gon Kim

Abstract:

Biological processes based on oxidation of sulfur compounds by chemolithotrophic microorganisms are emerging as an efficient and eco-friendly technique for removal of sulfur from the coal. In the present article, study was carried out to investigate the potential of biodesulfurization process in removing the sulfur from lignite coal sample collected from a Mongolian coal mine. The batch biodesulfurization experiments were conducted in 2.5 L borosilicate baffle type reactors at 35 ºC using Acidithiobacillus ferrooxidans. The effect of pulp density on efficiency of biodesulfurization was investigated at different solids concentration (1-10%) of coal. The results of the present study suggested that the rate of desulfurization was retarded at higher coal pulp density. The optimum pulp density found 5% at which about 48% of the total sulfur was removed from the coal.

Keywords: biodesulfurization, bioreactor, coal, pyrite

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9084 Microfluidic Plasmonic Bio-Sensing of Exosomes by Using a Gold Nano-Island Platform

Authors: Srinivas Bathini, Duraichelvan Raju, Simona Badilescu, Muthukumaran Packirisamy

Abstract:

A bio-sensing method, based on the plasmonic property of gold nano-islands, has been developed for detection of exosomes in a clinical setting. The position of the gold plasmon band in the UV-Visible spectrum depends on the size and shape of gold nanoparticles as well as on the surrounding environment. By adsorbing various chemical entities, or binding them, the gold plasmon band will shift toward longer wavelengths and the shift is proportional to the concentration. Exosomes transport cargoes of molecules and genetic materials to proximal and distal cells. Presently, the standard method for their isolation and quantification from body fluids is by ultracentrifugation, not a practical method to be implemented in a clinical setting. Thus, a versatile and cutting-edge platform is required to selectively detect and isolate exosomes for further analysis at clinical level. The new sensing protocol, instead of antibodies, makes use of a specially synthesized polypeptide (Vn96), to capture and quantify the exosomes from different media, by binding the heat shock proteins from exosomes. The protocol has been established and optimized by using a glass substrate, in order to facilitate the next stage, namely the transfer of the protocol to a microfluidic environment. After each step of the protocol, the UV-Vis spectrum was recorded and the position of gold Localized Surface Plasmon Resonance (LSPR) band was measured. The sensing process was modelled, taking into account the characteristics of the nano-island structure, prepared by thermal convection and annealing. The optimal molar ratios of the most important chemical entities, involved in the detection of exosomes were calculated as well. Indeed, it was found that the results of the sensing process depend on the two major steps: the molar ratios of streptavidin to biotin-PEG-Vn96 and, the final step, the capture of exosomes by the biotin-PEG-Vn96 complex. The microfluidic device designed for sensing of exosomes consists of a glass substrate, sealed by a PDMS layer that contains the channel and a collecting chamber. In the device, the solutions of linker, cross-linker, etc., are pumped over the gold nano-islands and an Ocean Optics spectrometer is used to measure the position of the Au plasmon band at each step of the sensing. The experiments have shown that the shift of the Au LSPR band is proportional to the concentration of exosomes and, thereby, exosomes can be accurately quantified. An important advantage of the method is the ability to discriminate between exosomes having different origins.

Keywords: exosomes, gold nano-islands, microfluidics, plasmonic biosensing

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9083 Virtual Assessment of Measurement Error in the Fractional Flow Reserve

Authors: Keltoum Chahour, Mickael Binois

Abstract:

Due to a lack of standardization during the invasive fractional flow reserve (FFR) procedure, the index is subject to many sources of uncertainties. In this paper, we investigate -through simulation- the effect of the (FFR) device position and configuration on the obtained value of the (FFR) fraction. For this purpose, we use computational fluid dynamics (CFD) in a 3D domain corresponding to a diseased arterial portion. The (FFR) pressure captor is introduced inside it with a given length and coefficient of bending to capture the (FFR) value. To get over the computational limitations, basically, the time of the simulation is about 2h 15min for one (FFR) value; we generate a Gaussian Process (GP) model for (FFR) prediction. The (GP) model indicates good accuracy and demonstrates the effective error in the measurement created by the random configuration of the pressure captor.

Keywords: fractional flow reserve, Gaussian processes, computational fluid dynamics, drift

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9082 Effects of Centrifugation, Encapsulation Method and Different Coating Materials on the Total Antioxidant Activity of the Microcapsules of Powdered Cherry Laurels

Authors: B. Cilek Tatar, G. Sumnu, M. Oztop, E. Ayaz

Abstract:

Encapsulation protects sensitive food ingredients against heat, oxygen, moisture and pH until they are released to the system. It can mask the unwanted taste of nutrients that are added to the foods for fortification purposes. Cherry laurels (Prunus laurocerasus) contain phenolic compounds which decrease the proneness to several chronic diseases such as types of cancer and cardiovascular diseases. The objective of this research was to study the effects of centrifugation, different coating materials and homogenization methods on microencapsulation of powders obtained from cherry laurels. In this study, maltodextrin and mixture of maltodextrin:whey protein with a ratio of 1:3 (w/w) were chosen as coating materials. Total solid content of coating materials was kept constant as 10% (w/w). Capsules were obtained from powders of freeze-dried cherry laurels through encapsulation process by silent crusher homogenizer or microfluidization. Freeze-dried cherry laurels were core materials and core to coating ratio was chosen as 1:10 by weight. To homogenize the mixture, high speed homogenizer was used at 4000 rpm for 5 min. Then, silent crusher or microfluidizer was used to complete encapsulation process. The mixtures were treated either by silent crusher for 1 min at 75000 rpm or microfluidizer at 50 MPa for 3 passes. Freeze drying for 48 hours was applied to emulsions to obtain capsules in powder form. After these steps, dry capsules were grounded manually into a fine powder. The microcapsules were analyzed for total antioxidant activity with DPPH (1,1-diphenyl-2-picrylhydrazyl) radical scavenging method. Prior to high speed homogenization, the samples were centrifuged (4000 rpm, 1 min). Centrifugation was found to have positive effect on total antioxidant activity of capsules. Microcapsules treated by microfluidizer were found to have higher total antioxidant activities than those treated by silent crusher. It was found that increasing whey protein concentration in coating material (using maltodextrin:whey protein 1:3 mixture) had positive effect on total antioxidant activity for both silent crusher and microfluidization methods. Therefore, capsules prepared by microfluidization of centrifuged mixtures can be selected as the best conditions for encapsulation of cherry laurel powder by considering their total antioxidant activity. In this study, it was shown that capsules prepared by these methods can be recommended to be incorporated into foods in order to enhance their functionality by increasing antioxidant activity.

Keywords: antioxidant activity, cherry laurel, microencapsulation, microfluidization

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9081 The Use of Information and Communication Technology within and between Emergency Medical Teams during a Disaster: A Qualitative study

Authors: Badryah Alshehri, Kevin Gormley, Gillian Prue, Karen McCutcheon

Abstract:

In a disaster event, sharing patient information between the pre-hospital Emergency Medical Services (EMS) and Emergency Department (ED) hospitals is a complex process during which important information may be altered or lost due to poor communication. The aim of this study was to critically discuss the current evidence base in relation to communication between pre- EMS hospital and ED hospital professionals by the use of Information and Communication Systems (ICT). This study followed the systematic approach; six electronic databases were searched: CINAHL, Medline, Embase, PubMed, Web of Science, and IEEE Xplore Digital Library were comprehensively searched in January 2018 and a second search was completed in April 2020 to capture more recent publications. The study selection process was undertaken independently by the study authors. Both qualitative and quantitative studies were chosen that focused on factors that are positively or negatively associated with coordinated communication between pre-hospital EMS and ED teams in a disaster event. These studies were assessed for quality, and the data were analyzed according to the key screening themes which emerged from the literature search. Twenty-two studies were included. Eleven studies employed quantitative methods, seven studies used qualitative methods, and four studies used mixed methods. Four themes emerged on communication between EMTs (pre-hospital EMS and ED staff) in a disaster event using the ICT. (1) Disaster preparedness plans and coordination. This theme reported that disaster plans are in place in hospitals, and in some cases, there are interagency agreements with pre-hospital and relevant stakeholders. However, the findings showed that the disaster plans highlighted in these studies lacked information regarding coordinated communications within and between the pre-hospital and hospital. (2) Communication systems used in the disaster. This theme highlighted that although various communication systems are used between and within hospitals and pre-hospitals, technical issues have influenced communication between teams during disasters. (3) Integrated information management systems. This theme suggested the need for an integrated health information system that can help pre-hospital and hospital staff to record patient data and ensure the data is shared. (4) Disaster training and drills. While some studies analyzed disaster drills and training, the majority of these studies were focused on hospital departments other than EMTs. These studies suggest the need for simulation disaster training and drills, including EMTs. This review demonstrates that considerable gaps remain in the understanding of the communication between the EMS and ED hospital staff in relation to response in disasters. The review shows that although different types of ICTs are used, various issues remain which affect coordinated communication among the relevant professionals.

Keywords: emergency medical teams, communication, information and communication technologies, disaster

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9080 The Agency of Award Systems in Architecture: The Case of Cyprus

Authors: Christakis Chatzichristou, Elias Kranos

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Architectural awards, especially if they are given by the state, recognize excellence in the field and, at the same time, strongly contribute to the making of the architectural culture of a place. The present research looks at the houses that have been awarded through such a system in Cyprus in order to discuss the values promoted, directly or not, by such a setup which is quite similar to other prestigious award systems such as the Mies van de Rohe Prize in Europe. In fact, many of the projects signed out through the state award system end up being selected to represent the country for the European awards. The residential architecture encouraged by such systems is quite interesting in that the most public of institutions influence how the most private unit of society is architecturally accommodated. The methodology uses both qualitative as well as quantitative research tools in order to analyze: the official state call for entries to the competition; the final report of the evaluation committee; the spatial characteristics of the houses through the Space Syntax methodology; the statements of the architects regarding their intentions and the final outcome; the feelings of the owners and users of the houses regarding the design process as well as the degree of satisfaction regarding the final product. The above-mentioned analyses allow for a more thorough discussion regarding not only the values promoted explicitly by the system through the brief that describes what the evaluation committee is looking for but also the values that are actually being promoted indirectly through the results of the actual evaluation itself. The findings suggest that: the strong emphasis in brief on bioclimatic design and issues of sustainability weakens significantly, if at all present, in the actual selection process; continuous improvement seems to be fuzzily used as a concept; most of the houses tend to have a similar spatial genotype; most of the houses have similar aesthetic qualities; discrepancies between the proposed lifestyle through the design and the actual use of the spaces do not seem to be acknowledged in the evaluation as an issue; the temporal factor seems to be ignored as the projects are required to be ‘finished projects’ as though the users and their needs do not change through time. The research suggests that, rather than preserving a critical attitude regarding the role of the architect in society, the state award system tends, like any other non-reflective social organism, to simply promote its own unexamined values as well as prejudices. This is perhaps more evident in the shared aesthetic character of the awarded houses and less so in the hidden spatial genotype to which they belong. If the design of houses is indeed a great opportunity for architecture to contribute in a more deliberate manner to the evolution of society, then what the present study shows is that this opportunity seems to be largely missed. The findings may serve better less as a verdict and more as a chance for introspection and discussion.

Keywords: award systems, houses, spatial genotype, aesthetic qualities

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9079 Laparoscopic Resection Shows Comparable Outcomes to Open Thoracotomy for Thoracoabdominal Neuroblastomas: A Meta-Analysis and Systematic Review

Authors: Peter J. Fusco, Dave M. Mathew, Chris Mathew, Kenneth H. Levy, Kathryn S. Varghese, Stephanie Salazar-Restrepo, Serena M. Mathew, Sofia Khaja, Eamon Vega, Mia Polizzi, Alyssa Mullane, Adham Ahmed

Abstract:

Background: Laparoscopic (LS) removal of neuroblastomas in children has been reported to offer favorable outcomes compared to the conventional open thoracotomy (OT) procedure. Critical perioperative measures such as blood loss, operative time, length of stay, and time to postoperative chemotherapy have all supported laparoscopic use rather than its more invasive counterpart. Herein, a pairwise meta-analysis was performed comparing perioperative outcomes between LS and OT in thoracoabdominal neuroblastoma cases. Methods: A comprehensive literature search was performed on PubMed, Ovid EMBASE, and Scopus databases to identify studies comparing the outcomes of pediatric patients with thoracoabdominal neuroblastomas undergoing resection via OT or LS. After deduplication, 4,227 studies were identified and subjected to initial title screening with exclusion and inclusion criteria to ensure relevance. When studies contained overlapping cohorts, only the larger series were included. Primary outcomes include estimated blood loss (EBL), hospital length of stay (LOS), and mortality, while secondary outcomes were tumor recurrence, post-operative complications, and operation length. The “meta” and “metafor” packages were used in R, version 4.0.2, to pool risk ratios (RR) or standardized mean differences (SMD) in addition to their 95% confidence intervals in the random effects model via the Mantel-Haenszel method. Heterogeneity between studies was assessed using the I² test, while publication bias was assessed via funnel plot. Results: The pooled analysis included 209 patients from 5 studies (141 OT, 68 LS). Of the included studies, 2 originated from the United States, 1 from Toronto, 1 from China, and 1was from a Japanese center. Mean age between study cohorts ranged from 2.4 to 5.3 years old, with female patients occupying between 30.8% to 50% of the study populations. No statistically significant difference was found between the two groups for LOS (SMD -1.02; p=0.083), mortality (RR 0.30; p=0.251), recurrence(RR 0.31; p=0.162), post-operative complications (RR 0.73; p=0.732), or operation length (SMD -0.07; p=0.648). Of note, LS appeared to be protective in the analysis for EBL, although it did not reach statistical significance (SMD -0.4174; p= 0.051). Conclusion: Despite promising literature assessing LS removal of pediatric neuroblastomas, results showed it was non-superior to OT for any explored perioperative outcomes. Given the limited comparative data on the subject, it is evident that randomized trials are necessary to further the efficacy of the conclusions reached.

Keywords: laparoscopy, neuroblastoma, thoracoabdominal, thoracotomy

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9078 Healthcare Associated Infections in an Intensive Care Unit in Tunisia: Incidence and Risk Factors

Authors: Nabiha Bouafia, Asma Ben Cheikh, Asma Ammar, Olfa Ezzi, Mohamed Mahjoub, Khaoula Meddeb, Imed Chouchene, Hamadi Boussarsar, Mansour Njah

Abstract:

Background: Hospital acquired infections (HAI) cause significant morbidity, mortality, length of stay and hospital costs, especially in the intensive care unit (ICU), because of the debilitated immune systems of their patients and exposure to invasive devices. The aims of this study were to determine the rate and the risk factors of HAI in an ICU of a university hospital in Tunisia. Materials/Methods: A prospective study was conducted in the 8-bed adult medical ICU of a University Hospital (Sousse Tunisia) during 14 months from September 15th, 2015 to November 15th, 2016. Patients admitted for more than 48h were included. Their surveillance was stopped after the discharge from ICU or death. HAIs were defined according to standard Centers for Disease Control and Prevention criteria. Risk factors were analyzed by conditional stepwise logistic regression. The p-value of < 0.05 was considered significant. Results: During the study, 192 patients had admitted for more than 48 hours. Their mean age was 59.3± 18.20 years and 57.1% were male. Acute respiratory failure was the main reason of admission (72%). The mean SAPS II score calculated at admission was 32.5 ± 14 (range: 6 - 78). The exposure to the mechanical ventilation (MV) and the central venous catheter were observed in 169 (88 %) and 144 (75 %) patients, respectively. Seventy-three patients (38.02%) developed 94 HAIs. The incidence density of HAIs was 41.53 per 1000 patient day. Mortality rate in patients with HAIs was 65.8 %( n= 48). Regarding the type of infection, Ventilator Associated Pneumoniae (VAP) and central venous catheter Associated Infections (CVC AI) were the most frequent with Incidence density: 14.88/1000 days of MV for VAP and 20.02/1000 CVC days for CVC AI. There were 5 Peripheral Venous Catheter Associated Infections, 2 urinary tract infections, and 21 other HAIs. Gram-negative bacteria were the most common germs identified in HAIs: Multidrug resistant Acinetobacter Baumanii (45%) and Klebsiella pneumoniae (10.96%) were the most frequently isolated. Univariate analysis showed that transfer from another hospital department (p= 0.001), intubation (p < 10-4), tracheostomy (p < 10-4), age (p=0.028), grade of acute respiratory failure (p=0.01), duration of sedation (p < 10-4), number of CVC (p < 10-4), length of mechanical ventilation (p < 10-4) and length of stay (p < 10-4), were associated to high risk of HAIS in ICU. Multivariate analysis reveals that independent risk factors for HAIs are: transfer from another hospital department: OR=13.44, IC 95% [3.9, 44.2], p < 10-4, duration of sedation: OR= 1.18, IC 95% [1.049, 1.325], p=0.006, high number of CVC: OR=2.78, IC 95% [1.73, 4.487], p < 10-4, and length of stay in ICU: OR= 1.14, IC 95% [1.066,1.22], p < 10-4. Conclusion: Prevention of nosocomial infections in ICUs is a priority of health care systems all around the world. Yet, their control requires an understanding of epidemiological data collected in these units.

Keywords: healthcare associated infections, incidence, intensive care unit, risk factors

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9077 The Effects of Myelin Basic Protein Charge Isomers on the Methyl Cycle Metabolites in Glial Cells

Authors: Elene Zhuravliova, Tamar Barbakadze, Irina Kalandadze, Elnari Zaalishvili, Lali Shanshiashvili, David Mikeladze

Abstract:

Background: Multiple sclerosis (MS) is an inflammatory, neurodegenerative disease, which is accompanied by demyelination and autoimmune response to myelin proteins. Among post-translational modifications, which mediate the modulation of inflammatory pathways during MS, methylation is the main one. The methylation of DNA, also amino acids lysine and arginine, occurs in the cell. It was found that decreased trans-methylation is associated with neuroinflammatory diseases. Therefore, abnormal regulation of the methyl cycle could induce demyelination through the action on PAD (peptidyl-arginine-deiminase) gene promoter. PAD takes part in protein citrullination and targets myelin basic protein (MBP), which is affected during demyelination. To determine whether MBP charge isomers are changing the methyl cycle, we have estimated the concentrations of methyl cycle metabolites in MBP-activated primary astrocytes and oligodendrocytes. For this purpose, the action of the citrullinated MBP- C8 and the most cationic MBP-C1 isomers on the primary cells were investigated. Methods: Primary oligodendrocyte and astrocyte cell cultures were prepared from whole brains of 2-day-old Wistar rats. The methyl cycle metabolites, including homocysteine, S-adenosylmethionine (SAM), and S-adenosylhomocysteine (SAH), were estimated by HPLC analysis using fluorescence detection and prior derivatization. Results: We found that the action of MBP-C8 and MBP-C1 induces a decrease in the concentration of both methyl cycle metabolites, S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH), in astrocytes compared to the control cells. As for oligodendrocytes, the concentration of SAM was increased by the addition of MBP-C1, while MBP-C8 has no significant effect. As for SAH, its concentration was increased compared to the control cells by the action of both MBP-C1 and MBP-C8. A significant increase in homocysteine concentration was observed by the action of the MBP-C8 isomer in both oligodendrocytes and astrocytes. Conclusion: These data suggest that MBP charge isomers change the concentration of methyl cycle metabolites. MBP-C8 citrullinated isomer causes elevation of homocysteine in astrocytes and oligodendrocytes, which may be the reason for decreased astrocyte proliferation and increased oligodendrocyte cell death which takes place in neurodegenerative processes. Elevated homocysteine levels and subsequent abnormal regulation of methyl cycles in oligodendrocytes possibly change the methylation of DNA that activates PAD gene promoter and induces the synthesis of PAD, which in turn provokes the process of citrullination, which is the accompanying process of demyelination. Acknowledgment: This research was supported by the SRNSF Georgia RF17_534 grant.

Keywords: myelin basic protein, astrocytes, methyl cycle metabolites, homocysteine, oligodendrocytes

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9076 Recrystallization Behavior and Microstructural Evolution of Nickel Base Superalloy AD730 Billet during Hot Forging at Subsolvus Temperatures

Authors: Marcos Perez, Christian Dumont, Olivier Nodin, Sebastien Nouveau

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Nickel superalloys are used to manufacture high-temperature rotary engine parts such as high-pressure disks in gas turbine engines. High strength at high operating temperatures is required due to the levels of stress and heat the disk must withstand. Therefore it is necessary parts made from materials that can maintain mechanical strength at high temperatures whilst remain comparatively low in cost. A manufacturing process referred to as the triple melt process has made the production of cast and wrought (C&W) nickel superalloys possible. This means that the balance of cost and performance at high temperature may be optimized. AD730TM is a newly developed Ni-based superalloy for turbine disk applications, with reported superior service properties around 700°C when compared to Inconel 718 and several other alloys. The cast ingot is converted into billet during either cogging process or open die forging. The semi-finished billet is then further processed into its final geometry by forging, heat treating, and machining. Conventional ingot-to-billet conversion is an expensive and complex operation, requiring a significant amount of steps to break up the coarse as-cast structure and interdendritic regions. Due to the size of conventional ingots, it is difficult to achieve a uniformly high level of strain for recrystallization, resulting in non-recrystallized regions that retain large unrecrystallized grains. Non-uniform grain distributions will also affect the ultrasonic inspectability response, which is used to find defects in the final component. The main aim is to analyze the recrystallization behavior and microstructural evolution of AD730 at subsolvus temperatures from a semi-finished product (billet) under conditions representative of both cogging and hot forging operations. Special attention to the presence of large unrecrystallized grains was paid. Double truncated cones (DTCs) were hot forged at subsolvus temperatures in hydraulic press, followed by air cooling. SEM and EBSD analysis were conducted in the as-received (billet) and the as-forged conditions. AD730 from billet alloy presents a complex microstructure characterized by a mixture of several constituents. Large unrecrystallized grains present a substructure characterized by large misorientation gradients with the formation of medium to high angle boundaries in their interior, especially close to the grain boundaries, denoting inhomogeneous strain distribution. A fine distribution of intragranular precipitates was found in their interior, playing a key role on strain distribution and subsequent recrystallization behaviour during hot forging. Continuous dynamic recrystallization (CDRX) mechanism was found to be operating in the large unrecrystallized grains, promoting the formation intragranular DRX grains and the gradual recrystallization of these grains. Evidences that hetero-epitaxial recrystallization mechanism is operating in AD730 billet material were found. Coherent γ-shells around primary γ’ precipitates were found. However, no significant contribution to the overall recrystallization during hot forging was found. By contrast, strain presents the strongest effect on the microstructural evolution of AD730, increasing the recrystallization fraction and refining the structure. Regions with low level of deformation (ε ≤ 0.6) were translated into large fractions of unrecrystallized structures (strain accumulation). The presence of undissolved secondary γ’ precipitates (pinning effect), prior to hot forging operations, could explain these results.

Keywords: AD730 alloy, continuous dynamic recrystallization, hot forging, γ’ precipitates

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9075 A New Approach for Assertions Processing during Assertion-Based Software Testing

Authors: Ali M. Alakeel

Abstract:

Assertion-based software testing has been shown to be a promising tool for generating test cases that reveal program faults. Because the number of assertions may be very large for industry-size programs, one of the main concerns to the applicability of assertion-based testing is the amount of search time required to explore a large number of assertions. This paper presents a new approach for assertions exploration during the process of Assertion-Based software testing. Our initial exterminations with the proposed approach show that the performance of Assertion-Based testing may be improved, therefore, making this approach more efficient when applied on programs with large number of assertions.

Keywords: software testing, assertion-based testing, program assertions, generating test

Procedia PDF Downloads 435
9074 Study of a Developed Model Describing a Vacuum Membrane Distillation Unit Coupled to Solar Energy

Authors: Fatma Khaled, Khaoula Hidouri, Bechir Chaouachi

Abstract:

Desalination using solar energy coupled with membrane techniques such as vacuum membrane distillation (VMD) is considered as an interesting alternative for the production of pure water. During this work, a developed model of a polytetrafluoroethylene (PTFE) hollow fiber membrane module of a VMD unit of seawater was carried out. This simulation leads to establishing a comparison between the effects of two different equations of the vaporization latent heat on the membrane surface temperature and on the unit productivity. Besides, in order to study the effect of putting membrane modules in series on the outlet fluid temperature and on the productivity of the process, a simulation was executed.

Keywords: vacuum membrane distillation, membrane module, membrane temperature, productivity

Procedia PDF Downloads 174
9073 Female Autism Spectrum Disorder and Understanding Rigid Repetitive Behaviors

Authors: Erin Micali, Katerina Tolstikova, Cheryl Maykel, Elizabeth Harwood

Abstract:

Female ASD is seldomly studied separately from males. Further, females with ASD are disproportionately underrepresented in the research at a rate of 3:1 (male to female). As such, much of the current understanding about female rigid repetitive behaviors (RRBs) stems from research’s understanding of male RRBs. This can be detrimental to understanding female ASD because this understanding of female RRBs largely discounts female camouflaging and the possibility that females present their autistic symptoms differently. Current literature suggests that females with ASD engage in fewer RRBs than males with ASD and when females do engage in RRBs, they are likely to engage in more subtle, less overt obsessions and repetitive behaviors than males. Method: The current study utilized a mixed methods research design to identify the type and frequency of RRBs that females with ASD engaged in by using a cross-sectional design. The researcher recruited only females to be part of the present study with the criteria they be at least age six and not have co-occurring cognitive impairment. Results: The researcher collected previous testing data (Autism Diagnostic Interview-Revised (ADI-R), Child or Adolescent/Adult Sensory Profile-2, Autism/ Empathy Quotient, Yale Brown Obsessive Compulsive Checklist, Rigid Repetitive Behavior Checklist (evaluator created list), and demographic questionnaire) from 25 total participants. The participants ages ranged from six to 52. The participants were 96% Caucasion and 4% Latin American. Qualitative analysis found the current participant pool engaged in six RRB themes including repetitive behaviors, socially restrictive behaviors, repetitive speech, difficulty with transition, obsessive behaviors, and restricted interests. The current dataset engaged in socially restrictive behaviors and restrictive interests most frequently. Within the main themes 40 subthemes were isolated, defined, and analyzed. Further, preliminary quantitative analysis was run to determine if age impacted camouflaging behaviors and overall presentation of RRBs. Within this dataset this was not founded. Further qualitative data will be run to determine if this dataset engaged in more overt or subtle RRBs to confirm or rebuff previous research. The researcher intends to run SPSS analysis to determine if there was statistical difference between each RRB theme and overall presentation. Secondly, each participant will be analyzed for presentation of RRB, age, and previous diagnoses. Conclusion: The present study aimed to assist in diagnostic clarity. This was achieved by collecting data from a female only participant pool across the lifespan. Current data aided in clarity of the type of RRBs engage in. A limited sample size was a barrier in this study.

Keywords: autism spectrum disorder, camouflaging, rigid repetitive behaviors, gender disparity

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9072 Membranes for Direct Lithium Extraction (DLE)

Authors: Amir Razmjou, Elika Karbassi Yazdi

Abstract:

Several direct lithium extraction (DLE) technologies have been developed for Li extraction from different brines. Although laboratory studies showed that they can technically recover Li to 90%, challenges still remain in developing a sustainable process that can serve as a foundation for the lithium dependent low-carbon economy. There is a continuing quest for DLE technologies that do not need extensive pre-treatments, fewer materials, and have simplified extraction processes with high Li selectivity. Here, an overview of DLE technologies will be provided with an emphasis on the basic principles of the materials’ design for the development of membranes with nanochannels and nanopores with Li ion selectivity. We have used a variety of building blocks such as nano-clay, organic frameworks, Graphene/oxide, MXene, etc., to fabricate the membranes. Molecular dynamic simulation (MD) and density functional theory (DFT) were used to reveal new mechanisms by which high Li selectivity was obtained.

Keywords: lithium recovery, membrane, lithium selectivity, decarbonization

Procedia PDF Downloads 94
9071 A Study on Big Data Analytics, Applications and Challenges

Authors: Chhavi Rana

Abstract:

The aim of the paper is to highlight the existing development in the field of big data analytics. Applications like bioinformatics, smart infrastructure projects, Healthcare, and business intelligence contain voluminous and incremental data, which is hard to organise and analyse and can be dealt with using the framework and model in this field of study. An organization's decision-making strategy can be enhanced using big data analytics and applying different machine learning techniques and statistical tools on such complex data sets that will consequently make better things for society. This paper reviews the current state of the art in this field of study as well as different application domains of big data analytics. It also elaborates on various frameworks in the process of Analysis using different machine-learning techniques. Finally, the paper concludes by stating different challenges and issues raised in existing research.

Keywords: big data, big data analytics, machine learning, review

Procedia PDF Downloads 66
9070 A Study on Big Data Analytics, Applications, and Challenges

Authors: Chhavi Rana

Abstract:

The aim of the paper is to highlight the existing development in the field of big data analytics. Applications like bioinformatics, smart infrastructure projects, healthcare, and business intelligence contain voluminous and incremental data which is hard to organise and analyse and can be dealt with using the framework and model in this field of study. An organisation decision-making strategy can be enhanced by using big data analytics and applying different machine learning techniques and statistical tools to such complex data sets that will consequently make better things for society. This paper reviews the current state of the art in this field of study as well as different application domains of big data analytics. It also elaborates various frameworks in the process of analysis using different machine learning techniques. Finally, the paper concludes by stating different challenges and issues raised in existing research.

Keywords: big data, big data analytics, machine learning, review

Procedia PDF Downloads 80
9069 Polydopamine Nanoparticle as a Stable and Capacious Nano-Reservoir of Rifampicin

Authors: Tasnuva Tamanna, Aimin Yu

Abstract:

Application of nanoscience in biomedical field has come across as a new era. This study involves the synthesis of nano drug carrier with antibiotic loading. Based on the founding that polydopamine (PDA) nanoparticles could be formed via self-polymerization of dopamine at alkaline pH, one-step synthesis of rifampicin coupled polydopamine (PDA-R) nanoparticles was achieved by adding rifampicin into the dopamine solution. The successful yield of PDA nanoparticles with or without the presence of rifampicin during the polymerization process was characterized by scanning electron microscopy, Fourier transform infrared spectroscopy, and Raman spectroscopy. Drug loading was monitored by UV-vis spectroscopy and the loading efficiency of rifampicin was calculated to be 76%. Such highly capacious nano-reservoir was found very stable with little drug leakage at pH 3.

Keywords: drug loading, nanoparticles, polydopamine, rifampicin

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9068 Comparison of Quality of Life One Year after Bariatric Intervention: Systematic Review of the Literature with Bayesian Network Meta-Analysis

Authors: Piotr Tylec, Alicja Dudek, Grzegorz Torbicz, Magdalena Mizera, Natalia Gajewska, Michael Su, Tanawat Vongsurbchart, Tomasz Stefura, Magdalena Pisarska, Mateusz Rubinkiewicz, Piotr Malczak, Piotr Major, Michal Pedziwiatr

Abstract:

Introduction: Quality of life after bariatric surgery is an important factor when evaluating the final result of the treatment. Considering the vast surgical options, we tried to globally compare available methods in terms of quality of following the surgery. The aim of the study is to compare the quality of life a year after bariatric intervention using network meta-analysis methods. Material and Methods: We performed a systematic review according to PRISMA guidelines with Bayesian network meta-analysis. Inclusion criteria were: studies comparing at least two methods of weight loss treatment of which at least one is surgical, assessment of the quality of life one year after surgery by validated questionnaires. Primary outcomes were quality of life one year after bariatric procedure. The following aspects of quality of life were analyzed: physical, emotional, general health, vitality, role physical, social, mental, and bodily pain. All questionnaires were standardized and pooled to a single scale. Lifestyle intervention was considered as a referenced point. Results: An initial reference search yielded 5636 articles. 18 studies were evaluated. In comparison of total score of quality of life, we observed that laparoscopic sleeve gastrectomy (LSG) (median (M): 3.606, Credible Interval 97.5% (CrI): 1.039; 6.191), laparoscopic Roux en-Y gastric by-pass (LRYGB) (M: 4.973, CrI: 2.627; 7.317) and open Roux en-Y gastric by-pass (RYGB) (M: 9.735, CrI: 6.708; 12.760) had better results than other bariatric intervention in relation to lifestyle interventions. In the analysis of the physical aspects of quality of life, we notice better results in LSG (M: 3.348, CrI: 0.548; 6.147) and in LRYGB procedure (M: 5.070, CrI: 2.896; 7.208) than control intervention, and worst results in open RYGB (M: -9.212, CrI: -11.610; -6.844). Analyzing emotional aspects, we found better results than control intervention in LSG, in LRYGB, in open RYGB, and laparoscopic gastric plication. In general health better results were in LSG (M: 9.144, CrI: 4.704; 13.470), in LRYGB (M: 6.451, CrI: 10.240; 13.830) and in single-anastomosis gastric by-pass (M: 8.671, CrI: 1.986; 15.310), and worst results in open RYGB (M: -4.048, CrI: -7.984; -0.305). In social and vital aspects of quality of life, better results were observed in LSG and LRYGB than control intervention. We did not find any differences between bariatric interventions in physical role, mental and bodily aspects of quality of life. Conclusion: The network meta-analysis revealed that better quality of life in total score one year after bariatric interventions were after LSG, LRYGB, open RYGB. In physical and general health aspects worst quality of life was in open RYGB procedure. Other interventions did not significantly affect the quality of life after a year compared to dietary intervention.

Keywords: bariatric surgery, network meta-analysis, quality of life, one year follow-up

Procedia PDF Downloads 150
9067 A New Spell-Out Mechanism

Authors: Yusra Yahya

Abstract:

In this paper, a new spell-out mechanism is developed and defended. This mechanism builds on the role of phase heads as both the loci of spell-out features and the transfer triggers via either Phase Impenetrability Condition 1 (PIC1) and/or Phase Impenetrability Condition 2 (PIC2). The assumption here is that phase heads, mainly v*, can regulate the spell-out process by deciding both the type of spell-out applying and the timing of spell-out relevant. This paper also proposes a new form of the constraint Wrap call it Wrap-XP’ and it is assumed to apply to IP as a functional maximal projection. This extension is shown to fall as a natural result once we assume the new theory of phases and multiple spell-out. Moreover, it is proposed in this work that some forms of XP movement are not motivated by an EPP feature of a strong phase head mainly v*, but they are rather motivated by a last resort strategy to accomplish the spell-out instruction of this phase head.

Keywords: linguistics, syntax, phonology, phase theory, optimality theory

Procedia PDF Downloads 500
9066 The Relevance of Smart Technologies in Learning

Authors: Rachael Olubukola Afolabi

Abstract:

Immersive technologies known as X Reality or Cross Reality that include virtual reality augmented reality, and mixed reality have pervaded into the education system at different levels from elementary school to adult learning. Instructors, instructional designers, and learning experience specialists continue to find new ways to engage students in the learning process using technology. While the progression of web technologies has enhanced digital learning experiences, analytics on learning outcomes continue to be explored to determine the relevance of these technologies in learning. Digital learning has evolved from web 1.0 (static) to 4.0 (dynamic and interactive), and this evolution of technologies has also advanced teaching methods and approaches. This paper explores how these technologies are being utilized in learning and the results that educators and learners have identified as effective learning opportunities and approaches.

Keywords: immersive technologoes, virtual reality, augmented reality, technology in learning

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9065 The Control System Architecture of Space Environment Simulator

Authors: Zhan Haiyang, Gu Miao

Abstract:

This article mainly introduces the control system architecture of space environment simulator, simultaneously also briefly introduce the automation control technology of industrial process and the measurement technology of vacuum and cold black environment. According to the volume of chamber, the space environment simulator is divided into three types of small, medium and large. According to the classification and application of space environment simulator, the control system is divided into the control system of small, medium, large space environment simulator and the centralized control system of multiple space environment simulators.

Keywords: space environment simulator, control system, architecture, automation control technology

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9064 Pattern Recognition Search: An Advancement Over Interpolation Search

Authors: Shahpar Yilmaz, Yasir Nadeem, Syed A. Mehdi

Abstract:

Searching for a record in a dataset is always a frequent task for any data structure-related application. Hence, a fast and efficient algorithm for the approach has its importance in yielding the quickest results and enhancing the overall productivity of the company. Interpolation search is one such technique used to search through a sorted set of elements. This paper proposes a new algorithm, an advancement over interpolation search for the application of search over a sorted array. Pattern Recognition Search or PR Search (PRS), like interpolation search, is a pattern-based divide and conquer algorithm whose objective is to reduce the sample size in order to quicken the process and it does so by treating the array as a perfect arithmetic progression series and thereby deducing the key element’s position. We look to highlight some of the key drawbacks of interpolation search, which are accounted for in the Pattern Recognition Search.

Keywords: array, complexity, index, sorting, space, time

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9063 Effect of Perioperative Multimodal Analgesia on Postoperative Opioid Consumption and Complications in Elderly Traumatic Hip Fracture Patients: A Systematic Review of Randomised Controlled Trials

Authors: Raheel Shakoor Siddiqui, Shahbaz Malik, Manikandar Srinivas Cheruvu, Sanjay Narayana Murthy, Livio DiMascio

Abstract:

Background: elderly traumatic hip fracture patients frequently present to trauma services globally. Rising low energy falls amongst an osteoporotic aging population is the commonest cause for injury. Hip fractures in this population are a major cause for severe pain, morbidity and mortality. The term hip fracture is interchangeable with neck of femur fracture, fractured neck of femur or proximal femur fracture. Hip fracture pain management protocols and guidelines suggest conventional analgesia, nerve block and opioid based treatment as rescue analgesia. There is a current global opioid crisis with overuse, abuse and dependence. Adverse opioid related complications in vulnerable elderly patients further adds to morbidity and mortality. Systematic reviews in literature have evidenced superiority of multimodal analgesia in osteoarthritic primary joint replacements compared to opioids however, this has not yet been conducted for elderly traumatic hip fracture patients. Aims: The primary aim of this systematic review is to provide standardised evidence following Cochrane and PRISMA guidance in determining advantages of perioperative multimodal analgesia over conventional opioid based treatments in elderly traumatic hip fractures. Methods: 5 databases were searched from January 2000-2023 which identified 8 randomised controlled trials and 446 total participants. These trials met defined PICOS eligibility criteria of patient mean age ≥ 65 years presenting with a unilateral traumatic fractured neck of femur for operative intervention. Analgesic intervention with perioperative multimodal analgesia has been compared to conventional opioid based analgesia. Outcomes of interest include, primarily, the change in postoperative opioid consumption within a 0-30 postoperative period and secondarily, the change in postoperative adverse events and complications. A qualitative synthesis has been performed due to clinical heterogenicity and variance amongst trials. Results: GRADE evidence of moderate quality supports perioperative multimodal analgesia leads to a reduction in postoperative opioid consumption however, low quality evidence supports a reduction of adverse effects and complications. Conclusion: Perioperative multimodal analgesia whether used preoperative, intraoperative and/or postoperative leads to a reduction in postoperative opioid consumption for elderly traumatic hip fracture patients. This review recommends the use of perioperative multimodal analgesia as part of hip fracture pain protocols however, caution and clinical judgement should be used as the risk of adverse effects may not be lower.

Keywords: trauma, orthopaedics, hip, fracture, neck of femur fracture, analgesia, multimodal analgesia, opioid

Procedia PDF Downloads 82
9062 Insider Theft Detection in Organizations Using Keylogger and Machine Learning

Authors: Shamatha Shetty, Sakshi Dhabadi, Prerana M., Indushree B.

Abstract:

About 66% of firms claim that insider attacks are more likely to happen. The frequency of insider incidents has increased by 47% in the last two years. The goal of this work is to prevent dangerous employee behavior by using keyloggers and the Machine Learning (ML) model. Every keystroke that the user enters is recorded by the keylogging program, also known as keystroke logging. Keyloggers are used to stop improper use of the system. This enables us to collect all textual data, save it in a CSV file, and analyze it using an ML algorithm and the VirusTotal API. Many large companies use it to methodically monitor how their employees use computers, the internet, and email. We are utilizing the SVM algorithm and the VirusTotal API to improve overall efficiency and accuracy in identifying specific patterns and words to automate and offer the report for improved monitoring.

Keywords: cyber security, machine learning, cyclic process, email notification

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9061 Simulating Drilling Using a CAD System

Authors: Panagiotis Kyratsis, Konstantinos Kakoulis

Abstract:

Nowadays, the rapid development of CAD systems’ programming environments results in the creation of multiple downstream applications, which are developed and becoming increasingly available. CAD based manufacturing simulations is gradually following the same trend. Drilling is the most popular hole-making process used in a variety of industries. A specially built piece of software that deals with the drilling kinematics is presented. The cutting forces are calculated based on the tool geometry, the cutting conditions and the tool/work piece materials. The results are verified by experimental work. Finally, the response surface methodology (RSM) is applied and mathematical models of the total thrust force and the thrust force developed because of the main cutting edges are proposed.

Keywords: CAD, application programming interface, response surface methodology, drilling, RSM

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9060 Molecular Defects Underlying Genital Ambiguity in Egyptian Patients: A Systematic Review

Authors: Y. Z. Gad

Abstract:

Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. The DSD are relatively prevalent in Egypt. In spite of that, the relative rarity of the individual disease types or their molecular pathologies frequently resulted in reporting on single or few cases. This augmented the challenging nature of phenotype-genotype correlation in this disease group and its utilization in the management of such medical emergency. Through critical assessment of the published DSD reports, the current review aims at analyzing the clinical characteristics of the various DSD forms in relation to the underlying molecular pathologies. A systematic literature search was done in Pubmed, using relevant keywords (Egypt versus DSD, genital ambiguity or ambiguous genitalia, the old terms of 'intersex, hermaphroditism and pseudohermaphroditism', and a list of the DSD entities and their related genes). The search yielded 24 reports of molecular data in Egyptian patients presenting with ambiguous genitalia. However, only 21 publications fulfilled the criteria of inclusion of detailed clinical descriptions and definitive molecular diagnoses of individual patients. Curation of the data yielded a total of 53 cases that were ascertained from 40 families. Fifty-one patients present with ambiguous genitalia only while 2 had multiple congenital anomalies. Parental consanguinity was noted in 60% of cases. Sex of rearing at initial presentation was female in 75% and 60% in 46,XY and 46,XX DSD cases, respectively. The external genital phenotype in 2/3 of the 46,XY DSD cases showed moderate undermasculinization [Quigley scores 3 & 4] and 1/3 had severe presentations [scores 5 & 6]. For 46,XX subjects, 1 had severe virilization of the external genitalia while 8 had moderate phenotype. Hormonal data were inconclusive or contradictory to final diagnosis in a forth of cases. Collectively, 31 families [31/40, 77.5%] with 46,XY DSD had molecular defects in the genes, 5 alpha reductase 2 (SRD5A2) [12/31], 17 beta-hydroxysteroid dehydrogenase 3 [8/31], androgen receptor [7/31], Steroidogenic factor 1 [2/31], luteinizing hormone receptor [1/31], and fibroblast growth factor receptor 1 [1/31]. In a multiethnic study, 9 families afflicted with 46,XX DSD due to 11 beta hydroxylase (CYP11B1) deficiency were documented. Two recurrent mutations, G34R and N160D, in SRD5A2 were present, respectively, in 42 and 17% of cases. Similarly, 4 recurrent mutations resulted in 89% of the CYP11B1 presentations. In conclusion, this analysis highlights the importance of autosomal recessive inheritance and inbreeding among DSD presentations, the importance of founder effect in at least 2 disorders, the difficulties in relating the genotype with the indeterminate genital phenotype, the under-reporting of some DSD subtypes, and the notion that the reported mutational profiles among Egyptian DSD cases are relatively different from those reported in other ethnic groups.

Keywords: disorders of sex development, genital ambiguity, mutation, molecular diagnosis, Egypt

Procedia PDF Downloads 125