Search results for: Clara Gonçalves

Authors: Susana Gonçalves, Joana Lencart, Anabela Gregório Dias

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Introduction: In combination with chemotherapy, Total Body Irradiation (TBI) is most used as part of the conditioning regimen prior to allogeneic hematopoietic stem cell transplantation. Conventional TBI techniques have a long application time but non-conformality of beam-application with the inability to individually spare organs at risk. Our institution’s intention is to start using Volumetric Modulated Arc Therapy (VMAT) techniques to increase homogeneity of delivered radiation. As a first approach, a dosimetric plan was performed on a computed tomography (CT) scan of a Rando Alderson antropomorfic phantom (head and torso), using a set of six arcs distributed along the phantom. However, a full body anthropomorphic phantom is essential to carry out technique validation and implementation. Our aim is to define the physical and chemical characteristics and the ideal manufacturing procedure of upper and lower limbs to our anthropomorphic phantom, for later validate TBI using VMAT. Materials and Methods: To study the better fit between our phantom and limbs, a CT scan of Rando Alderson anthropomorphic phantom was acquired. CT was performed on GE Healthcare equipment (model Optima CT580 W), with slice thickness of 2.5 mm. This CT was also used to access the electronic density of soft tissue and bone through Hounsfield units (HU) analysis. Results: CT images were analyzed and measures were made for the ideal upper and lower limbs. Upper limbs should be build under the following measures: 43cm length and 7cm diameter (next to the shoulder section). Lower limbs should be build under the following measures: 79cm length and 16.5cm diameter (next to the thigh section). As expected, soft tissue and bone have very different electronic density. This is important to choose and analyze different materials to better represent soft tissue and bone characteristics. The approximate HU values of the soft tissue and for bone shall be 35HU and 250HU, respectively. Conclusion: At the moment, several compounds are being developed based on different types of resins and additives in order to be able to control and mimic the various constituent densities of the tissues. Concurrently, several manufacturing techniques are being explored to make it possible to produce the upper and lower limbs in a simple and non-expensive way, in order to finally carry out a systematic and appropriate study of the total body irradiation. This preliminary study was a good starting point to demonstrate the feasibility of TBI with VMAT.

Keywords: TBI, VMAT, anthropomorphic phantom, tissue equivalent materials

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Authors: Clara Voyvodic

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Transitions from conflict to peace are by no means smooth nor linear, particularly from the perspective of those living through them. Over the last few decades, the changing focus in peacebuilding studies has come to appreciate the everyday experience of communities and how that provides a lens through which the relative success or efficacy of these transitions can be understood. In particular, the demobilization of a significant conflict actor is not without consequences, not just for the macro-view of state stabilization and peace, but for the communities who find themselves without a clear authority of territorial control. In Colombia, the demobilization and disarmament of the FARC guerilla group provided a brief respite to the conflict and a major political win for President Manuel Santos. However, this victory has proven short-lived. Drawing from extensive field research in Colombia within the last year, including interviews with local communities and actors operating in these regions, field observations, and other primary resources, this paper examines the post-accord transitions in Colombia and the everyday security experiences of local communities in regions formerly controlled by the FARC. In order to do so, the research focused on a semi-ethnographic approach in the northern region of the department of Antioquia and the coastal area of the border department of Nariño that documented how individuals within these marginalized communities have come to understand and negotiate their security in the years following the accord and the demobilization of the FARC. This presentation will argue that the removal of the FARC as an informal governance actor opened a space for multiple actors to attempt to control the same territory, including the state. This shift has had a clear impact on the everyday security experiences of the local communities. With an exploration of the dynamics of local governance and its impact on lived security experiences, this research seeks to demonstrate how distinct patterns of armed group behavior are emerging not only from a vacuum of control left by the FARC but from an increase in state presence that nonetheless remains inconsistent and unpersuasive as a monopoly of force in the region. The increased multiplicity of actors, particularly the state, has meant that the normal (informal) rules for communities to navigate these territories are no longer in play as the identities, actions, and intentions of different competing groups have become frustratingly opaque. This research provides a prescient analysis on how the shifting dynamics of territorial control in a post-peace accord landscape produce uncertain realities that affect the daily lives of the local communities and endanger the long-term prospect of human-centered security.

Keywords: armed actors, conflict transitions, informal governance, post-accord, security experiences

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Authors: Carlos M. Goncalves, Luisa Duarte, Teresa Cartaxo

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The aim of this work was to understand the reasons behind the underutilization of electroconvulsive therapy (ECT) in the younger population and raise possible solutions. We conducted a non-systematic review of literature throughout a search on PubMed, using the terms ‘children’, ‘adolescents’ and ‘electroconvulsive’, ‘therapy’. Candidate articles written in languages other than English were excluded. Articles were selected according to title and/or abstract’s content relevance, resulting in a total of 5 articles. ECT is a recognized effective treatment in adults for several psychiatric conditions. As in adults, ECT in children and adolescents is proven most beneficial in the treatment of severe mood disorders, catatonia, and, to a lesser extent, schizophrenia. ECT in adults has also been used to treat autism’s self-injurious behaviours, Tourette’s syndrome and resistant first-episode schizophrenia disorder. Despite growing evidence on its safety and effectiveness in children and adolescents, like those found in adults, ECT remains a controversial and underused treatment in patients this age, even when it is clearly indicated. There are various possible reasons to this; limited awareness among professionals (lack of knowledge and experience among child psychiatrists), stigmatic public opinion (despite positive feedback from patients and families, there is an unfavourable and inaccurate representation in the media, contributing to a negative public opinion), legal restrictions and ethical controversies (restrictive regulations such as a minimum age for administration), lack of randomized trials (the currently available studies are retrospective, with small size samples, and most of the publications are either case reports or case series). This shows the need to raise awareness and knowledge, not only for mental health professionals, but also to the general population, through the media, regarding indications, methods and safety of ECT in order to provide reliable information to the patient and families. Large-scale longitudinal studies are also useful to further demonstrate the efficacy and safety of ECT and can aid in the formulation of algorithms and guidelines as without these changes, the availability of ECT to the younger population will remain restricted by regulations and social stigma. In conclusion, these results highlight that lack of adequate knowledge and accurate information are the most important factors behind the underutilization of ECT in younger population. Mental healthcare professionals occupy a cornerstone position; if data is given by a well-informed healthcare professional instead of the media, general population (including patients and their families) will probably regard the procedure in a more favourable way. So, the starting point should be to improve health care professional’s knowledge and experience on this choice of treatment.

Keywords: adolescents, children, electroconvulsive, therapy

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Authors: Clara Tramuta, Floris Irene, Daniela Manila Bianchi, Monica Pitti, Giulia Federica Cazzaniga, Lucia Decastelli

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This work presents the results obtained by the Regional Reference Centre for Salmonella Typing (CeRTiS) in a retrospective study aimed to investigate, through Pulsed-field Gel Electrophoresis (PFGE) analysis, the genetic relatedness of emerging Salmonella serotypes of human origin circulating in North-West of Italy. Furthermore, the goal of this work was to create a Regional database to facilitate foodborne outbreak investigation and to monitor them at an earlier stage. A total of 112 strains, isolated from 2016 to 2018 in hospital laboratories, were included in this study. The isolates were previously identified as Salmonella according to standard microbiological techniques and serotyping was performed according to ISO 6579-3 and the Kaufmann-White scheme using O and H antisera (Statens Serum Institut®). All strains were characterized by PFGE: analysis was conducted according to a standardized PulseNet protocol. The restriction enzyme XbaI was used to generate several distinguishable genomic fragments on the agarose gel. PFGE was performed on a CHEF Mapper system, separating large fragments and generating comparable genetic patterns. The agarose gel was then stained with GelRed® and photographed under ultraviolet transillumination. The PFGE patterns obtained from the 112 strains were compared using Bionumerics version 7.6 software with the Dice coefficient with 2% band tolerance and 2% optimization. For each serotype, the data obtained with the PFGE were compared according to the geographical origin and the year in which they were isolated. Salmonella strains were identified as follow: S. Derby n. 34; S. Infantis n. 38; S. Napoli n. 40. All the isolates had appreciable restricted digestion patterns ranging from approximately 40 to 1100 kb. In general, a fairly heterogeneous distribution of pulsotypes has emerged in the different provinces. Cluster analysis indicated high genetic similarity (≥ 83%) among strains of S. Derby (n. 30; 88%), S. Infantis (n. 36; 95%) and S. Napoli (n. 38; 95%) circulating in north-western Italy. The study underlines the genomic similarities shared by the emerging Salmonella strains in Northwest Italy and allowed to create a database to detect outbreaks in an early stage. Therefore, the results confirmed that PFGE is a powerful and discriminatory tool to investigate the genetic relationships among strains in order to monitoring and control Salmonellosis outbreak spread. Pulsed-field gel electrophoresis (PFGE) still represents one of the most suitable approaches to characterize strains, in particular for the laboratories for which NGS techniques are not available.

Keywords: emerging Salmonella serotypes, genetic characterization, human strains, PFGE

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Authors: Carolina Mayen Huerta, Clara Ivanescu, Paloma Marcos

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Due to their unique geographic challenges and the imperative to combat climate change, Small Island Developing States (SIDS) are experiencing rapid growth in the renewable energy (RE) sector. However, women's representation in formal employment within this burgeoning field remains significantly lower than their male counterparts. Conventional methodologies often overlook critical geographic data that influence women's job prospects. To address this gap, this paper introduces a Multicriteria Evaluation (MCE) framework designed to identify spatially enabling environments and restrictions affecting women's access to formal employment and business opportunities in the SIDS' RE sector. The proposed MCE framework comprises 24 key factors categorized into four dimensions: Individual, Contextual, Accessibility, and Place Characterization. "Individual factors" encompass personal attributes influencing women's career development, including caregiving responsibilities, exposure to domestic violence, and disparities in education. "Contextual factors" pertain to the legal and policy environment, influencing workplace gender discrimination, financial autonomy, and overall gender empowerment. "Accessibility factors" evaluate women's day-to-day mobility, considering travel patterns, access to public transport, educational facilities, RE job opportunities, healthcare facilities, and financial services. Finally, "Place Characterization factors" enclose attributes of geographical locations or environments. This dimension includes walkability, public transport availability, safety, electricity access, digital inclusion, fragility, conflict, violence, water and sanitation, and climatic factors in specific regions. The analytical framework proposed in this paper incorporates a spatial methodology to visualize regions within countries where conducive environments for women to access RE jobs exist. In areas where these environments are absent, the methodology serves as a decision-making tool to reinforce critical factors, such as transportation, education, and internet access, which currently hinder access to employment opportunities. This approach is designed to equip policymakers and institutions with data-driven insights, enabling them to make evidence-based decisions that consider the geographic dimensions of disparity. These insights, in turn, can help ensure the efficient allocation of resources to achieve gender equity objectives.

Keywords: gender, women, spatial analysis, renewable energy, access

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Authors: Carolina Mayen Huerta, Clara Ivanescu, Paloma Marcos

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Due to their unique geographic challenges and the imperative to combat climate change, Small Island Developing States (SIDS) are experiencing rapid growth in the renewable energy (RE) sector. However, women's representation in formal employment within this burgeoning field remains significantly lower than their male counterparts. Conventional methodologies often overlook critical geographic data that influence women's job prospects. To address this gap, this paper introduces a Multicriteria Evaluation (MCE) framework designed to identify spatially enabling environments and restrictions affecting women's access to formal employment and business opportunities in the SIDS' RE sector. The proposed MCE framework comprises 24 key factors categorized into four dimensions: Individual, Contextual, Accessibility, and Place Characterization. "Individual factors" encompass personal attributes influencing women's career development, including caregiving responsibilities, exposure to domestic violence, and disparities in education. "Contextual factors" pertain to the legal and policy environment, influencing workplace gender discrimination, financial autonomy, and overall gender empowerment. "Accessibility factors" evaluate women's day-to-day mobility, considering travel patterns, access to public transport, educational facilities, RE job opportunities, healthcare facilities, and financial services. Finally, "Place Characterization factors" enclose attributes of geographical locations or environments. This dimension includes walkability, public transport availability, safety, electricity access, digital inclusion, fragility, conflict, violence, water and sanitation, and climatic factors in specific regions. The analytical framework proposed in this paper incorporates a spatial methodology to visualize regions within countries where conducive environments for women to access RE jobs exist. In areas where these environments are absent, the methodology serves as a decision-making tool to reinforce critical factors, such as transportation, education, and internet access, which currently hinder access to employment opportunities. This approach is designed to equip policymakers and institutions with data-driven insights, enabling them to make evidence-based decisions that consider the geographic dimensions of disparity. These insights, in turn, can help ensure the efficient allocation of resources to achieve gender equity objectives.

Keywords: gender, women, spatial analysis, renewable energy, access

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Authors: Felipe M. de Freitas, Icaro V. Soares, Lucas L. L. Fortes, Sandro T. M. Gonçalves, Úrsula D. C. Resende

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The SPICE-based simulators are quite robust and widely used for simulation of electronic circuits, their algorithms support linear and non-linear lumped components and they can manipulate an expressive amount of encapsulated elements. Despite the great potential of these simulators based on SPICE in the analysis of quasi-static electromagnetic field interaction, that is, at low frequency, these simulators are limited when applied to microwave hybrid circuits in which there are both lumped and distributed elements. Usually the spatial discretization of the FDTD (Finite-Difference Time-Domain) method is done according to the actual size of the element under analysis. After spatial discretization, the Courant Stability Criterion calculates the maximum temporal discretization accepted for such spatial discretization and for the propagation velocity of the wave. This criterion guarantees the stability conditions for the leapfrogging of the Yee algorithm; however, it is known that for the field update, the stability of the complete FDTD procedure depends on factors other than just the stability of the Yee algorithm, because the FDTD program needs other algorithms in order to be useful in engineering problems. Examples of these algorithms are Absorbent Boundary Conditions (ABCs), excitation sources, subcellular techniques, grouped elements, and non-uniform or non-orthogonal meshes. In this work, the influence of the stability of the FDTD method in the modeling of concentrated elements such as resistive sources, resistors, capacitors, inductors and diode will be evaluated. In this paper is proposed, therefore, the electromagnetic modeling of electronic components in order to create models that satisfy the needs for simulations of circuits in ultra-wide frequencies. The models of the resistive source, the resistor, the capacitor, the inductor, and the diode will be evaluated, among the mathematical models for lumped components in the LE-FDTD method (Lumped-Element Finite-Difference Time-Domain), through the parametric analysis of Yee cells size which discretizes the lumped components. In this way, it is sought to find an ideal cell size so that the analysis in FDTD environment is in greater agreement with the expected circuit behavior, maintaining the stability conditions of this method. Based on the mathematical models and the theoretical basis of the required extensions of the FDTD method, the computational implementation of the models in Matlab® environment is carried out. The boundary condition Mur is used as the absorbing boundary of the FDTD method. The validation of the model is done through the comparison between the obtained results by the FDTD method through the electric field values and the currents in the components, and the analytical results using circuit parameters.

Keywords: hybrid circuits, LE-FDTD, lumped element, parametric analysis

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Authors: Daniela Manila Bianchi, Samantha Lupi, Elisa Barcucci, Sandra Fragassi, Clara Tramuta, Lucia Decastelli

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Introduction: The undeclared allergens detection in food products plays a fundamental role in the safety of the allergic consumer. The protection of allergic consumers is guaranteed, in Europe, by Regulation (EU) No 1169/2011 of the European Parliament, which governs the consumer's right to information and identifies 14 food allergens to be mandatorily indicated on food labels: among these, an egg is included. An egg can be present as an ingredient or as contamination in raw and cooked products. The main allergen egg proteins are ovomucoid, ovalbumin, lysozyme, and ovotransferrin. This study presents the results of a survey conducted in Northern Italy aimed at detecting the presence of undeclared egg proteins in food matrices in the latest ten years (2011-2021). Method: In the period January 2011 - October 2021, a total of 1205 different types of food matrices (ready-to-eat, meats, and meat products, bakery and pastry products, baby foods, food supplements, pasta, fish and fish products, preparations for soups and broths) were delivered to Food Control Laboratory of Istituto Zooprofilattico Sperimentale of Piemonte Liguria and Valle d’Aosta to be analyzed as official samples in the frame of Regional Monitoring Plan of Food Safety or in the contest of food poisoning. The laboratory is ISO 17025 accredited, and since 2019, it has represented the National Reference Centre for the detection in foods of substances causing food allergies or intolerances (CreNaRiA). All samples were stored in the laboratory according to food business operator instructions and analyzed within the expiry date for the detection of undeclared egg proteins. Analyses were performed with RIDASCREEN®FAST Ei/Egg (R-Biopharm ® Italia srl) kit: the method was internally validated and accredited with a Limit of Detection (LOD) equal to 2 ppm (mg/Kg). It is a sandwich enzyme immunoassay for the quantitative analysis of whole egg powder in foods. Results: The results obtained through this study showed that egg proteins were found in 2% (n. 28) of food matrices, including meats and meat products (n. 16), fish and fish products (n. 4), bakery and pastry products (n. 4), pasta (n. 2), preparations for soups and broths (n.1) and ready-to-eat (n. 1). In particular, in 2011 egg proteins were detected in 5% of samples, in 2012 in 4%, in 2013, 2016 and 2018 in 2%, in 2014, 2015 and 2019 in 3%. No egg protein traces were detected in 2017, 2020, and 2021. Discussion: Food allergies occur in the Western World in 2% of adults and up to 8% of children. Allergy to eggs is one of the most common food allergies in the pediatrics context. The percentage of positivity obtained from this study is, however, low. The trend over the ten years has been slightly variable, with comparable data.

Keywords: allergens, food, egg proteins, immunoassay

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Authors: Rafael Santos, Clara Pimenta Do Vale, Barbara Bogoni, Poul Henning Kirkegaard

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In the last decades, the relevance of hand drawing has decreased in the scope of architectural education. However, some schools continue to recognize its decisive role, not only in the architectural design teaching, but in the whole of architectural training. With this paper it is intended to present the results of a research developed on the following problem: the practise of hand drawing as a premier form of representation in architectural design teaching. The research had as its object the educational model of the Faculty of Architecture of the University of Porto (FAUP) and was led by three main objectives: to identify the circumstance that promoted hand drawing as a form of representation in FAUP's model; to characterize the types of hand drawing and their role in that model; to determine the particularities of hand drawing as a premier form of representation in architectural design teaching. Methodologically, the research was conducted according to a qualitative embedded single-case study design. The object – i.e., the educational model – was approached in FAUP case considering its Context and three embedded unities of analysis: the educational Purposes, Principles and Practices. In order to guide the procedures of data collection and analysis, a Matrix for the Characterization (MCC) was developed. As a methodological tool, the MCC allowed to relate the three embedded unities of analysis with the three main sources of evidence where the object manifests itself: the professors, expressing how the model is Assumed; the architectural design classes, expressing how the model is Achieved; and the students, expressing how the model is Acquired. The main research methods used were the naturalistic and participatory observation, in-person-interview and documentary and bibliographic review. The results reveal that the educational model of FAUP – following the model of the former Porto School – was largely due to the methodological foundations created with the hand drawing teaching-learning processes. In the absence of a culture of explicit theoretical elaboration or systematic research, hand drawing was the support for the continuity of the school, an expression of a unified thought about what should be the reflection and practice of architecture. As a form of representation, hand drawing plays a transversal role in the entire educational model, since its purposes are not limited to the conception of architectural design – it is also a means for perception, analysis and synthesis. Regarding the architectural design teaching, there seems to be an understanding of three complementary dimensions of didactics: the instrumental, methodological and propositional dimension. At FAUP, hand drawing is recognized as the common denominator among these dimensions, according to the idea of "globality of drawing". It is expected that the knowledge base developed in this research may have three main contributions: to contribute to the maintenance and valorisation of FAUP’s model; through the precise description of the methodological procedures, to contribute by transferability to similar studies; through the critical and objective framework of the problem underlying the hand drawing in architectural design teaching, to contribute to the broader discussion concerning the contemporary challenges on architectural education.

Keywords: architectural design teaching, architectural education, forms of representation, hand drawing

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Authors: Ivo Zution Goncalves, Christopher M. U. Neale, Hiran Medeiros, Everardo Mantovani, Natalia Souza

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Multispectral and thermal infrared imagery from satellite sensors coupled with climate and soil datasets were used to estimate evapotranspiration and biomass in center pivots planted to maize in Brazil during the 2016 season. The hybrid remote sensing based model named Spatial EvapoTranspiration Modelling Interface (SETMI) was applied using multispectral and thermal infrared imagery from the Landsat Thematic Mapper instrument. Field data collected by the IRRIGER center pivot management company included daily weather information such as maximum and minimum temperature, precipitation, relative humidity for estimating reference evapotranspiration. In addition, soil water content data were obtained every 0.20 m in the soil profile down to 0.60 m depth throughout the season. Early season soil samples were used to obtain water-holding capacity, wilting point, saturated hydraulic conductivity, initial volumetric soil water content, layer thickness, and saturated volumetric water content. Crop canopy development parameters and irrigation application depths were also inputs of the model. The modeling approach is based on the reflectance-based crop coefficient approach contained within the SETMI hybrid ET model using relationships developed in Nebraska. The model was applied to several fields located in Minas Gerais State in Brazil with approximate latitude: -16.630434 and longitude: -47.192876. The model provides estimates of real crop evapotranspiration (ET), crop irrigation requirements and all soil water balance outputs, including biomass estimation using multi-temporal satellite image inputs. An interpolation scheme based on the growing degree-day concept was used to model the periods between satellite inputs, filling the gaps between image dates and obtaining daily data. Actual and accumulated ET, accumulated cold temperature and water stress and crop water requirements estimated by the model were compared with data measured at the experimental fields. Results indicate that the SETMI modeling approach using data assimilation, showed reliable daily ET and crop water requirements for maize, interpolated between remote sensing observations, confirming the applicability of the SETMI model using new relationships developed in Nebraska for estimating mainly ET and water requirements in Brazil under tropical conditions.

Keywords: basal crop coefficient, irrigation, remote sensing, SETMI

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Authors: Catarina Bento, Ana Carolina Gonçalves, Fábio Jesus, Luís Rodrigues Silva

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Increasing evidence suggests that a diet rich in fruits and vegetables plays important roles in the prevention of chronic diseases, such as heart disease, cancer, stroke, diabetes, Alzheimer’s disease, among others. Fruits and vegetables gained prominence due their richness in bioactive compounds, being the focus of many studies due to their biological properties acting as health promoters. Prunus avium Linnaeus (L.), commonly known as sweet cherry has been the centre of attention due to its health benefits, and has been highly studied. In Portugal, most of the cherry production comes from the Fundão region. The Saco is one of the most important cultivar produced in this region, attributed with geographical protection. In this work, we prepared 3 extracts through solid-phase extraction (SPE): a whole extract, fraction I (non-coloured phenolics) and fraction II (coloured phenolics). The three extracts were used to determine the phenolic profile of Saco cultivar by liquid chromatography with diode array detection (LC-DAD) technique. This was followed by the evaluation of their biological potential, testing the extracts’ capacity to scavenge free-radicals (DPPH•, nitric oxide (•NO) and superoxide radical (O2●-)) and to inhibit α-glucosidase enzyme of all extracts. Additionally, we evaluated, for the first time, the protective effects against peroxyl radical (ROO•)-induced hemoglobin oxidation and hemolysis in human erythrocytes. A total of 16 non-coloured phenolics were detected, 3-O-caffeoylquinic and ρ-coumaroylquinic acids were the main ones, and 6 anthocyanins were found, among which cyanidin-3-O-rutinoside represented the majority. In respect to antioxidant activity, Saco showed great antioxidant potential in a concentration-dependent manner, demonstrated through the DPPH•,•NO and O2●-radicals, and greater ability to inhibit the α-glucosidase enzyme in comparison to the regular drug acarbose used to treat diabetes. Additionally, Saco proved to be effective to protect erythrocytes against oxidative damage in a concentration-dependent manner against hemoglobin oxidation and hemolysis. Our work demonstrated that Saco cultivar is an excellent source of phenolic compounds which are natural antioxidants that easily capture reactive species, such as ROO• before they can attack the erythrocytes’ membrane. In a general way, the whole extract showed the best efficiency, most likely due to a synergetic interaction between the different compounds. Finally, comparing the two separate fractions, the coloured fraction showed the most activity in all the assays, proving to be the biggest contributor of Saco cherries’ biological activity.

Keywords: biological potential, coloured phenolics, non-coloured phenolics, sweet cherry

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Authors: Carlos A. C. G. Neto, Natan C. G. e Silva , Thaís de O. Costa, Luciana R. B. Gonçalves, Maria V. P. Rocha

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β-galactosidases (E.C. 3.2.1.23) are enzymes that have attracted by catalyzing the hydrolysis of lactose and in producing galacto-oligosaccharides by favoring transgalactosylation reactions. These enzymes, when immobilized, can have some enzymatic characteristics substantially improved, and the coating of supports with multifunctional polymers is a promising alternative to enhance the stability of the biocatalysts, among which polyethylenimine (PEI) stands out. PEI has certain properties, such as being a flexible polymer that suits the structure of the enzyme, giving greater stability, especially for multimeric enzymes such as β-galactosidases. Besides that, protects them from environmental variations. The use of chitosan support coated with PEI could improve the catalytic efficiency of β-galactosidase from Kluyveromyces lactis in the transgalactosylation reaction for the production of prebiotics, such as lactulose since this strain is more effective in the hydrolysis reaction. In this context, the aim of the present work was first to develop biocatalysts of β-galactosidase from K. lactis immobilized on chitosan-coated with PEI, determining the immobilization parameters, its operational and thermal stability, and then to apply it in hydrolysis and transgalactolisation reactions to produce lactulose using whey as a substrate. The immobilization of β-galactosidase in chitosan previously functionalized with 0.8% (v/v) glutaraldehyde and then coated with 10% (w/v) PEI solution was evaluated using an enzymatic load of 10 mg protein per gram support. Subsequently, the hydrolysis and transgalactosylation reactions were conducted at 50 °C, 120 RPM for 20 minutes, using whey supplemented with fructose at a ratio of 1:2 lactose/fructose, totaling 200 g/L. Operational stability studies were performed in the same conditions for 10 cycles. Thermal stabilities of biocatalysts were conducted at 50 ºC in 50 mM phosphate buffer, pH 6.6 with 0.1 mM MnCl2. The biocatalyst whose support was coated was named CHI_GLU_PEI_GAL, and the one that was not coated was named CHI_GLU_GAL. The coating of the support with PEI considerably improved the parameters of immobilization. The immobilization yield increased from 56.53% to 97.45%, biocatalyst activity from 38.93 U/g to 95.26 U/g and the efficiency from 3.51% to 6.0% for uncoated and coated support, respectively. The biocatalyst CHI_GLU_PEI_GAL was better than CHI_GLU_GAL in the hydrolysis of lactose and production of lactulose, converting 97.05% of lactose at 5 min of reaction and producing 7.60 g/L lactulose in the same time interval. QUI_GLU_PEI_GAL biocatalyst was stable in the hydrolysis reactions of lactose during the 10 cycles evaluated, converting 73.45% lactose even after the tenth cycle, and in the lactulose production was stable until the fifth cycle evaluated, producing 10.95 g/L lactulose. However, the thermal stability of CHI_GLU_GAL biocatalyst was superior, with a half-life time 6 times higher, probably because the enzyme was immobilized by covalent bonding, which is stronger than adsorption (CHI_GLU_PEI_GAL). Therefore, the strategy of coating the supports with PEI has proven to be effective for the immobilization of β-galactosidase from K. lactis, considerably improving the immobilization parameters, as well as, the catalytic action of the enzyme. Besides that, this process can be economically viable due to the use of an industrial residue as a substrate.

Keywords: β-galactosidase, immobilization, kluyveromyces lactis, lactulose, polyethylenimine, transgalactosylation reaction, whey

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Authors: Amanda Cristina da Silva Reis, Bruno Paulino Venâncio, Cristina Theada Ferreira, Andrea Fialho do Prado, Lucimara Guedes dos Santos, Aline de Souza Gravatá, Larissa Lima Gonçalves, Isabella Aparecida Ferreira Moretto, João Carlos Ferrari Corrêa, Fernanda Ishida Corrêa

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Objective: To compare two protocols of Transcranial Magnetic Stimulation (TMS) on quadriceps muscle spasticity in individuals diagnosed with Multiple Sclerosis (MS). Method: Clinical, crossover study, in which six adult individuals diagnosed with MS and spasticity in the lower limbs were randomized to receive one session of high-frequency (≥5Hz) and low-frequency (≤ 1Hz) TMS on motor cortex (M1) hotspot for quadriceps muscle, with a one-week interval between the sessions. To assess the spasticity was applied the Ashworth scale and were analyzed the latency time (ms) of the motor evoked potential (MEP) and the central motor conduction time (CMCT) of the bilateral quadriceps muscle. Assessments were performed before and after each intervention. The difference between groups was analyzed using the Friedman test, with a significance level of 0.05 adopted. Results: All statistical analyzes were performed using the SPSS Statistic version 26 programs, with a significance level established for the analyzes at p<0.05. Shapiro Wilk normality test. Parametric data were represented as mean and standard deviation for non-parametric variables, median and interquartile range, and frequency and percentage for categorical variables. There was no clinical change in quadriceps spasticity assessed using the Ashworth scale for the 1 Hz (p=0.813) and 5 Hz (p= 0.232) protocols for both limbs. Motor Evoked Potential latency time: in the 5hz protocol, there was no significant change for the contralateral side from pre to post-treatment (p>0.05), and for the ipsilateral side, there was a decrease in latency time of 0.07 seconds (p<0.05 ); for the 1Hz protocol there was an increase of 0.04 seconds in the latency time (p<0.05) for the contralateral side to the stimulus, and for the ipsilateral side there was a decrease in the latency time of 0.04 seconds (p=<0.05), with a significant difference between the contralateral (p=0.007) and ipsilateral (p=0.014) groups. Central motor conduction time in the 1Hz protocol, there was no change for the contralateral side (p>0.05) and for the ipsilateral side (p>0.05). In the 5Hz protocol for the contralateral side, there was a small decrease in latency time (p<0.05) and for the ipsilateral side, there was a decrease of 0.6 seconds in the latency time (p<0.05) with a significant difference between groups (p=0.019). Conclusion: A high or low-frequency session does not change spasticity, but it is observed that when the low-frequency protocol was performed, there was an increase in latency time on the stimulated side, and a decrease in latency time on the non-stimulated side, considering then that inhibiting the motor cortex increases cortical excitability on the opposite side.

Keywords: multiple sclerosis, spasticity, motor evoked potential, transcranial magnetic stimulation

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Authors: Carlos A. C. G. Neto, Natan C. G. Silva, Thais O. Costa, Luciana R. B. Goncalves, Maria v. P. Rocha

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Galactosidases are enzymes responsible for catalyzing lactose hydrolysis reactions and also favoring transgalactosylation reactions for the production of prebiotics, among which lactulose stands out. These enzymes, when immobilized, can have some enzymatic characteristics substantially improved, and the coating of supports with multifunctional polymers in immobilization processes is a promising alternative in order to extend the useful life of the biocatalysts, for example, the coating with polyethyleneimine (PEI). PEI is a flexible polymer that suits the structure of the enzyme, giving greater stability, especially for multimeric enzymes such as β-galactosidases and also protects it from environmental variations, for example, pH and temperature. In addition, it can substantially improve the immobilization parameters and also the efficiency of enzymatic reactions. In this context, the aim of the present work was first to develop biocatalysts of β-galactosidase from Kluyveromyces lactis immobilized on PEI coated agarose, determining the immobilization parameters, its operational and thermal stability, and then to apply it in the hydrolysis of lactose and synthesis of lactulose, using whey as a substrate. This immobilization strategy was chosen in order to improve the catalytic efficiency of the enzyme in the transgalactosylation reaction for the production of prebiotics, and there are few studies with β-galactosidase from this strain. The immobilization of β-galactosidase in agarose previously functionalized with 48% (w/v) glycidol and then coated with 10% (w/v) PEI solution was evaluated using an enzymatic load of 10 mg/g of protein. Subsequently, the hydrolysis and transgalactosylation reactions were conducted at 50 °C, 120 RPM for 20 minutes, using whey (66.7 g/L of lactose) supplemented with 133.3 g/L fructose at a ratio of 1:2 (lactose/fructose). Operational stability studies were performed in the same conditions for 10 cycles. Thermal stabilities of biocatalysts were conducted at 50 ºC in 50 mM phosphate buffer, pH 6.6, with 0.1 mM MnCl2. The biocatalysts whose supports were coated were named AGA_GLY_PEI_GAL, and those that were not coated were named AGA_GLY_GAL. The coating of the support with PEI considerably improved immobilization yield (2.6-fold), the biocatalyst activity (1.4-fold), and efficiency (2.2-fold). The biocatalyst AGA_GLY_PEI_GAL was better than AGA_GLY_GAL in hydrolysis and transgalactosylation reactions, converting 88.92% of lactose at 5 min of reaction and obtaining a residual concentration of 5.24 g/L. Besides that, it was produced 13.90 g/L lactulose in the same time interval. AGA_GLY_PEI_GAL biocatalyst was stable during the 10 cycles evaluated, converting approximately 80% of lactose and producing 10.95 g/L of lactulose even after the tenth cycle. However, the thermal stability of AGA_GLY_GAL biocatalyst was superior, with a half-life time 5 times higher, probably because the enzyme was immobilized by covalent bonding, which is stronger than adsorption (AGA_GLY_PEI_GAL). Therefore, the strategy of coating the supports with PEI has proven to be effective for the immobilization of β-galactosidase from K. lactis, considerably improving the immobilization parameters, as well as the enzyme, catalyzed reactions. In addition, the use of whey as a raw material for lactulose production has proved to be an industrially advantageous alternative.

Keywords: β-galactosidase, immobilization, lactulose, polyethylenimine, whey

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Authors: Brian Yulianto, Syachrial, Saeful Aziz, Anggita Clara Shinta

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Indonesia, with a population of about two hundred and fifty million people in quantity, indicates the outstanding wealth of human resources. Hundreds of millions of the population scattered in various communities in various regions in Indonesia with the different characteristics of economic, social and unique culture. Broadly speaking, the community in Indonesia is divided into two classes, namely urban communities and rural communities. The rural communities characterized by low potential and management of natural and human resources, limited access of development, and lack of social and economic infrastructure, and scattered and isolated population. West Java is one of the provinces with the largest population in Indonesia. Based on data from the Central Bureau of Statistics in 2015 the number of population in West Java reached 46.7096 million souls spread over 18 districts and 9 cities. The big difference in geographical and social conditions of people in West Java from one region to another, especially the south to the north causing the gap is high. It is closely related to the flow of investment to promote the area. Poverty and underdevelopment are the classic problems that occur on a massive scale in the region as the effects of inequity in development. South Cianjur and Tasikmalaya area South became one of the portraits area where the existing potential has not been capable of prospering society. Tri Dharma College not only define the College as a pioneer implementation of education and research to improve the quality of human resources but also demanded to be a pioneer in the development through the concept of public service. Bandung Institute of Technology as one of the institutions of higher education to implement community service system through collaborative community work program "one of the university community" as one approach to developing villages. The program is based Community Service, where students are not only required to be able to take part in community service, but also able to develop a community development strategy that is comprehensive and integrity in cooperation with government agencies and non-government related as a real form of effort alignment potential, position and role from various parties. Areas of western Java in particular have high poverty rates and disparity. On the other hand, there are three fundamental pillars in the development of rural communities, namely economic development, community development, and the integrated infrastructure development. These pillars require the commitment of all components of community, including the students and colleges for upholding success. College’s community program is one of the approaches in the development of rural communities. ITB is committed to implement as one form of student community service as community-college programs that integrate all elements of the community which is called Kuliah Kerja Nyata-Thematic.

Keywords: development in rural area, collaborative, student community service, Kuliah Kerja Nyata-Thematic ITB

Procedia PDF Downloads 207

Authors: Rakelane A. Mendes, Sandro T. M. Goncalves, Raphaella L. R. Silva

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The concepts of energy harvesting and wireless energy transfer have been widely discussed in recent times. There are some ways to create autonomous systems for collecting ambient energy, such as solar, vibratory, thermal, electromagnetic, radiofrequency (RF), among others. In the case of the RF it is possible to collect up to 100 μW / cm². To collect and/or transfer energy in RF systems, a device called rectenna is used, which is defined by the junction of an antenna and a rectifier circuit. The rectenna presented in this work is resonant at the frequencies of 1.8 GHz and 2.45 GHz. Frequencies at 1.8 GHz band are e part of the GSM / LTE band. The GSM (Global System for Mobile Communication) is a frequency band of mobile telephony, it is also called second generation mobile networks (2G), it came to standardize mobile telephony in the world and was originally developed for voice traffic. LTE (Long Term Evolution) or fourth generation (4G) has emerged to meet the demand for wireless access to services such as Internet access, online games, VoIP and video conferencing. The 2.45 GHz frequency is part of the ISM (Instrumentation, Scientific and Medical) frequency band, this band is internationally reserved for industrial, scientific and medical development with no need for licensing, and its only restrictions are related to maximum power transfer and bandwidth, which must be kept within certain limits (in Brazil the bandwidth is 2.4 - 2.4835 GHz). The rectenna presented in this work was designed to present efficiency above 50% for an input power of -15 dBm. It is known that for wireless energy capture systems the signal power is very low and varies greatly, for this reason this ultra-low input power was chosen. The Rectenna was built using the low cost FR4 (Flame Resistant) substrate, the antenna selected is a microfita antenna, consisting of a Meandered dipole, and this one was optimized using the software CST Studio. This antenna has high efficiency, high gain and high directivity. Gain is the quality of an antenna in capturing more or less efficiently the signals transmitted by another antenna and/or station. Directivity is the quality that an antenna has to better capture energy in a certain direction. The rectifier circuit used has series topology and was optimized using Keysight's ADS software. The rectifier circuit is the most complex part of the rectenna, since it includes the diode, which is a non-linear component. The chosen diode is the Schottky diode SMS 7630, this presents low barrier voltage (between 135-240 mV) and a wider band compared to other types of diodes, and these attributes make it perfect for this type of application. In the rectifier circuit are also used inductor and capacitor, these are part of the input and output filters of the rectifier circuit. The inductor has the function of decreasing the dispersion effect on the efficiency of the rectifier circuit. The capacitor has the function of eliminating the AC component of the rectifier circuit and making the signal undulating.

Keywords: dipole antenna, double-band, high efficiency, rectenna

Procedia PDF Downloads 99

Authors: Felipe M. de Freitas, Ícaro V. Soares, Lucas L. L. Fortes, Sandro T. M. Gonçalves, Úrsula D. C. Resende

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There is a dispersed energy in Radio Frequencies (RF) that can be reused to power electronics circuits such as: sensors, actuators, identification devices, among other systems, without wire connections or a battery supply requirement. In this context, there are different types of energy harvesting systems, including rectennas, coil systems, graphene and new materials. A secondary step of an energy harvesting system is the rectification of the collected signal which may be carried out, for example, by the combination of one or more Schottky diodes connected in series or shunt. In the case of a rectenna-based system, for instance, the diode used must be able to receive low power signals at ultra-high frequencies. Therefore, it is required low values of series resistance, junction capacitance and potential barrier voltage. Due to this low-power condition, voltage multiplier configurations are used such as voltage doublers or modified bridge converters. Lowpass filter (LPF) at the input, DC output filter, and a resistive load are also commonly used in the rectifier design. The electronic circuits projects are commonly analyzed through simulation in SPICE (Simulation Program with Integrated Circuit Emphasis) environment. Despite the remarkable potential of SPICE-based simulators for complex circuit modeling and analysis of quasi-static electromagnetic fields interaction, i.e., at low frequency, these simulators are limited and they cannot model properly applications of microwave hybrid circuits in which there are both, lumped elements as well as distributed elements. This work proposes, therefore, the electromagnetic modelling of electronic components in order to create models that satisfy the needs for simulations of circuits in ultra-high frequencies, with application in rectifiers coupled to antennas, as in energy harvesting systems, that is, in rectennas. For this purpose, the numerical method FDTD (Finite-Difference Time-Domain) is applied and SPICE computational tools are used for comparison. In the present work, initially the Ampere-Maxwell equation is applied to the equations of current density and electric field within the FDTD method and its circuital relation with the voltage drop in the modeled component for the case of lumped parameter using the FDTD (Lumped-Element Finite-Difference Time-Domain) proposed in for the passive components and the one proposed in for the diode. Next, a rectifier is built with the essential requirements for operating rectenna energy harvesting systems and the FDTD results are compared with experimental measurements.

Keywords: energy harvesting system, LE-FDTD, rectenna, rectifier, wireless power systems

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Authors: Rafael Sousa Santos, Clara Pimena Do Vale, Barbara Bogoni, Poul Henning Kirkegaard

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The representative component, a determining aspect of the architect's training, has been marked by an exponential and unprecedented development. However, the multiplication of possibilities has also multiplied uncertainties about architectural design teaching, and by extension, about the very principles of architectural education. In this paper, it is intended to present the results of a research developed on the following problem: the relation between the forms of representation and the architectural design teaching-learning processes. The research had as its object the educational model of two schools – the Politecnico di Milano (POLIMI) and the Faculty of Architecture of the University of Porto (FAUP) – and was led by three main objectives: to characterize the educational model followed in both schools focused on the representative component and its role; to interpret the relation between forms of representation and the architectural design teaching-learning processes; to consider their possibilities of valorisation. Methodologically, the research was conducted according to a qualitative embedded multiple-case study design. The object – i.e., the educational model – was approached in both POLIMI and FAUP cases considering its Context and three embedded unities of analysis: the educational Purposes, Principles, and Practices. In order to guide the procedures of data collection and analysis, a Matrix for the Characterization (MCC) was developed. As a methodological tool, the MCC allowed to relate the three embedded unities of analysis with the three main sources of evidence where the object manifests itself: the professors, expressing how the model is assumed; the architectural design classes, expressing how the model is achieved; and the students, expressing how the model is acquired. The main research methods used were the naturalistic and participatory observation, in-person-interview and documentary and bibliographic review. The results reveal the importance of the representative component in the educational model of both cases, despite the differences in its role. In POLIMI's model, representation is particularly relevant in the teaching of architectural design, while in FAUP’s model, it plays a transversal role – according to an idea of 'general training through hand drawing'. In fact, the difference between models relative to representation can be partially understood by the level of importance that each gives to hand drawing. Regarding the teaching of architectural design, the two cases are distinguished in the relation with the representative component: while in POLIMI the forms of representation serve essentially an instrumental purpose, in FAUP they tend to be considered also for their methodological dimension. It seems that the possibilities for valuing these models reside precisely in the relation between forms of representation and architectural design teaching. It is expected that the knowledge base developed in this research may have three main contributions: to contribute to the maintenance of the educational model of POLIMI and FAUP; through the precise description of the methodological procedures, to contribute by transferability to similar studies; through the critical and objective framework of the problem underlying the forms of representation and its relation with architectural design teaching, to contribute to the broader discussion concerning the contemporary challenges on architectural education.

Keywords: architectural design teaching, architectural education, educational models, forms of representation

Procedia PDF Downloads 98

Authors: Bruna F. Oliveira, Teresa I. Gonçalves, Marcelo M. Sousa, Sandra M. Pimenta, Octávio F. Ramalho, José B. Cruz, Flávia V. Barbosa

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The EU Circular Economy action plan, launched in 2020, is one of the major initiatives to promote the transition into a more sustainable industry. The circular economy is a popular concept used by many companies nowadays. Some industries are better forwarded to this reality than others, and the tannery industry is a sector that needs more attention due to its strong environmental impact caused by its dimension, intensive resources consumption, lack of recyclability, and second use of its products, as well as the industrial effluents generated by the manufacturing processes. For these reasons, the zero-waste goal and the European objectives are further being achieved. In this context, a need arises to provide an effective methodology that allows to determine the level of circularity of tannery companies. Regarding the complexity of the circular economy concept, few factories have a specialist in sustainability to assess the company’s circularity or have the ability to implement circular strategies that could benefit the manufacturing processes. Although there are several methodologies to assess circularity in specific industrial sectors, there is not an easy go-to methodology applied in factories aiming for cleaner production. Therefore, a straightforward methodology to assess the level of circularity, in this case of a tannery industry, is presented and discussed in this work, allowing any company to measure the impact of its activities. The methodology developed consists in calculating the Overall Circular Index (OCI) by evaluating the circularity of four key areas -energy, material, economy and social- in a specific factory. The index is a value between 0 and 1, where 0 means a linear economy, and 1 is a complete circular economy. Each key area has a sub-index, obtained through key performance indicators (KPIs) regarding each theme, and the OCI reflects the average of the four sub-indexes. Some fieldwork in the appointed company was required in order to obtain all the necessary data. By having separate sub-indexes, one can observe which areas are more linear than others. Thus, it is possible to work on the most critical areas by implementing strategies to increase the OCI. After these strategies are implemented, the OCI is recalculated to check the improvements made and any other changes in the remaining sub-indexes. As such, the methodology in discussion works through continuous improvement, constantly reevaluating and improving the circularity of the factory. The methodology is also flexible enough to be implemented in any industrial sector by adapting the KPIs. This methodology was implemented in a selected Portuguese small and medium-sized enterprises (SME) tannery industry and proved to be a relevant tool to measure the circularity level of the factory. It was witnessed that it is easier for non-specialists to evaluate circularity and identify possible solutions to increase its value, as well as learn how one action can impact their environment. In the end, energetic and environmental inefficiencies were identified and corrected, increasing the sustainability and circularity of the company. Through this work, important contributions were provided, helping the Portuguese SMEs to achieve the European and UN 2030 sustainable goals.

Keywords: circular economy, circularity index, sustainability, tannery industry, zero-waste

Procedia PDF Downloads 49

Authors: Paulina Clara Appiah, Kofi Issah, Timothy Letsa, Kennedy Nartey, Amanua Chinbuah, Adoma Dwomo-Fokuo, Jacqeline G. Asibey

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Background: The Every Newborn Action Plan provides evidence–based interventions to end preventable deaths in high burden countries. Brong Ahafo Region is one of ten regions in Ghana with less than half of its district hospitals having sick newborn units. Facility-based neonatal care is not prioritized and under-funded, and there is also inadequate knowledge and competence to manage the sick. The aim of this intervention was to make available in–patient care for sick newborns in all 19 district hospitals through the strengthening of facility-based systems. Methods: With the development and dissemination of the National Newborn Strategy and Action Plan 2014-2018, the country was able to attract PATH which provided the region with basic resuscitation equipment, supported hospital providers’ capacity building in Helping Babies Breathe, Essential Care of Every Baby, Infection Prevention and Management and held a symposia on managing the sick newborn. Newborn advocacy was promoted through newborn champions at the facility and community levels. Hospital management was then able to mobilize resources from communities, corporate organizations and from internally generated funds; created or expanded sick newborn care units and provided essential medicines and equipment. Kangaroo Mother Care was initiated in 6 hospitals. Pediatric specialist outreach services initiated comprised telephone consultations, teaching ward rounds and participating in perinatal death audits meetings. Newborn data capture and management was improved through the provision and training on the use of standard registers provided from the national level. Results: From February 2015 to November 2017, hospitals with sick newborn units increased from 7 to 19 (37%-100%). 180 pieces each of newborn ventilation bags and masks size 0, 1 and penguin suction bulbs were distributed to the hospitals, in addition to 20 newborn mannequin sets and 90 small clinical reminder posters. 802 providers (96.9%) were trained in resuscitation, of which 96% were successfully followed up in 6 weeks, 91% in 6 months and 80% in 12 months post-training. 53 clinicians (65%) were trained and mentored to manage sick newborns. 56 specialist teaching ward rounds were conducted. Data completeness improved from 92.6% - 99.9%. Availability of essential medicines improved from 11% to 100%. Number of hospital cots increased from 116 to 248 (214%). Cot occupancy rate increased from 57.4% to 92.5%. Hospitals with phototherapy equipment increased from 0 to 12 (63%). Hospitals with incubators increased from 1 to 12 (5%-63%). Newborn deaths among admissions reduced from 6.3% to 5.4%. Conclusion: Access to in-patient care increased significantly. Newborn advocacy successfully mobilized resources required for strengthening facility –based systems.

Keywords: facility-based systems, Ghana, in-patient care, newborn advocacy

Procedia PDF Downloads 206

Authors: Oibar Martinez, Clara Oliver, Jose Miguel Miranda

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In this paper, we discuss the standard improvements which can be made to reduce the earth resistance in difficult terrains for optimum lightning protection, what are the practical limitations, and how the modeling can be refined for accurate diagnostics and ground resistance minimization. Ground resistance minimization can be made via three different approaches: burying vertical electrodes connected in parallel, burying horizontal conductive plates or meshes, or modifying the own terrain, either by changing the entire terrain material in a large volume or by adding earth-enhancing compounds. The use of vertical electrodes connected in parallel pose several practical limitations. In order to prevent loss of effectiveness, it is necessary to keep a minimum distance between each electrode, which is typically around five times larger than the electrode length. Otherwise, the overlapping of the local equipotential lines around each electrode reduces the efficiency of the configuration. The addition of parallel electrodes reduces the resistance and facilitates the measurement, but the basic parallel resistor formula of circuit theory will always underestimate the final resistance. Numerical simulation of equipotential lines around the electrodes overcomes this limitation. The resistance of a single electrode will always be proportional to the soil resistivity. The electrodes are usually installed with a backfilling material of high conductivity, which increases the effective diameter. However, the improvement is marginal, since the electrode diameter counts in the estimation of the ground resistance via a logarithmic function. Substances that are used for efficient chemical treatment must be environmentally friendly and must feature stability, high hygroscopicity, low corrosivity, and high electrical conductivity. A number of earth enhancement materials are commercially available. Many are comprised of carbon-based materials or clays like bentonite. These materials can also be used as backfilling materials to reduce the resistance of an electrode. Chemical treatment of soil has environmental issues. Some products contain copper sulfate or other copper-based compounds, which may not be environmentally friendly. Carbon-based compounds are relatively inexpensive and they do have very low resistivities, but they also feature corrosion issues. Typically, the carbon can corrode and destroy a copper electrode in around five years. These compounds also have potential environmental concerns. Some earthing enhancement materials contain cement, which, after installation acquire properties that are very close to concrete. This prevents the earthing enhancement material from leaching into the soil. After analyzing different configurations, we conclude that a buried conductive ring with vertical electrodes connected periodically should be the optimum baseline solution for the grounding of a large size structure installed on a large resistivity terrain. In order to show this, a practical example is explained here where we simulate the ground resistance of a conductive ring buried in a terrain with a resistivity in the range of 1 kOhm·m.

Keywords: grounding improvements, large scale scientific instrument, lightning risk assessment, lightning standards

Procedia PDF Downloads 116

Authors: Oibar Martinez, Clara Oliver

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The Cherenkov Telescope Array Project (CTA) aims to build two different observatories of Cherenkov Telescopes, located in Cerro del Paranal, Chile, and La Palma, Spain. These facilities are used in this paper as a case study to investigate how to apply standard Directives on Electromagnetic Compatibility to astronomical observatories. Cherenkov Telescopes are able to provide valuable information from both Galactic and Extragalactic sources by measuring Cherenkov radiation, which is produced by particles which travel faster than light in the atmosphere. The construction requirements demand compliance with the European Electromagnetic Compatibility Directive. The largest telescopes of these observatories, called Large Scale Telescopes (LSTs), are high precision instruments with advanced photomultipliers able to detect the faint sub-nanosecond blue light pulses produced by Cherenkov Radiation. They have a 23-meter parabolic reflective surface. This surface focuses the radiation on a camera composed of an array of high-speed photosensors which are highly sensitive to the radio spectrum pollution. The camera has a field of view of about 4.5 degrees and has been designed for maximum compactness and lowest weight, cost and power consumption. Each pixel incorporates a photo-sensor able to discriminate single photons and the corresponding readout electronics. The first LST is already commissioned and intends to be operated as a service to Scientific Community. Because of this, it must comply with a series of reliability and functional requirements and must have a Conformité Européen (CE) marking. This demands compliance with Directive 2014/30/EU on electromagnetic compatibility. The main difficulty of accomplishing this goal resides on the fact that Conformité Européen marking setups and procedures were implemented for industrial products, whereas no clear protocols have been defined for scientific installations. In this paper, we aim to give an answer to the question on how the directive should be applied to our installation to guarantee the fulfillment of all the requirements and the proper functioning of the telescope itself. Experts in Optics and Electromagnetism were both needed to make these kinds of decisions and match tests which were designed to be made over the equipment of limited dimensions on large scientific plants. An analysis of the elements and configurations most likely to be affected by external interferences and those that are most likely to cause the maximum disturbances was also performed. Obtaining the Conformité Européen mark requires knowing what the harmonized standards are and how the elaboration of the specific requirement is defined. For this type of large installations, one needs to adapt and develop the tests to be carried out. In addition, throughout this process, certification entities and notified bodies play a key role in preparing and agreeing the required technical documentation. We have focused our attention mostly on the technical aspects of each point. We believe that this contribution will be of interest for other scientists involved in applying industrial quality assurance standards to large scientific plant.

Keywords: CE marking, electromagnetic compatibility, european directive, scientific installations

Procedia PDF Downloads 88

Authors: Rodrigo Calili, Anna Carolina Sermarini, João Henrique Azevedo, Vanessa Cardoso de Albuquerque, Felipe Gonçalves, Gilberto Jannuzzi

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The diffusion of Distributed Energy Resources (DER) has caused structural changes in the relationship between consumers and electrical systems. The Photovoltaic Distributed Generation (PVDG), in particular, is an essential strategy for achieving the 2030 Agenda goals, especially SDG 7 and SDG 13. However, it is observed that most projects involving this technology in Brazil are restricted to the wealthiest classes of society, not yet reaching the low-income population, aligned with theories of energy justice. Considering the research for energy equality, one of the policies adopted by governments is the social electricity tariff (SET), which provides discounts on energy tariffs/bills. However, just granting this benefit may not be effective, and it is possible to merge it with DER technologies, such as the PVDG. Thus, this work aims to evaluate the economic viability of the policy to replace the social electricity tariff (the current policy aimed at the low-income population in Brazil) by PVDG projects. To this end, a proprietary methodology was developed that included: mapping the stakeholders, identifying critical variables, simulating policy options, and carrying out an analysis in the Brazilian context. The simulation answered two key questions: in which municipalities low-income consumers would have lower bills with PVDG compared to SET; which consumers in a given city would have increased subsidies, which are now provided for solar energy in Brazil and for the social tariff. An economic model was created for verifying the feasibility of the proposed policy in each municipality in the country, considering geographic issues (tariff of a particular distribution utility, radiation from a specific location, etc.). To validate these results, four sensitivity analyzes were performed: variation of the simultaneity factor between generation and consumption, variation of the tariff readjustment rate, zeroing CAPEX, and exemption from state tax. The behind-the-meter modality of generation proved to be more promising than the construction of a shared plant. However, although the behind-the-meter modality presents better results than the shared plant, there is a greater complexity in adopting this modality due to issues related to the infrastructure of the most vulnerable communities (e.g., precarious electrical networks, need to reinforce roofs). Considering the shared power plant modality, many opportunities are still envisaged since the risk of investing in such a policy can be mitigated. Furthermore, this modality can be an alternative due to the mitigation of the risk of default, as it allows greater control of users and facilitates the process of operation and maintenance. Finally, it was also found, that in some regions of Brazil, the continuity of the SET presents more economic benefits than its replacement by PVDG. However, the proposed policy offers many opportunities. For future works, the model may include other parameters, such as cost with low-income populations’ engagement, and business risk. In addition, other renewable sources of distributed generation can be studied for this purpose.

Keywords: low income, subsidy policy, distributed energy resources, energy justice

Procedia PDF Downloads 91

Authors: Fernanda Gonçalves, Karla Alcântara, Vanessa Moura, Patrícia Nolasco, Jorge Kalil, Maristela Hernandez

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Introduction: Atherosclerosis is a chronic disease where two striking features are observed: retention of lipids and inflammation. Understanding the interaction between immune cells and lipoproteins involved in atherogenesis are urgent challenges, since cardiovascular diseases are the leading cause of death worldwide. Macrophages are critical to the development of atherosclerotic plaques and in the perpetuation of inflammation in these lesions. These cells are also directly involved in unstable plaque rupture. Recently different populations of macrophages are being identified in atherosclerotic lesions. Although the presence of M2 macrophages (macrophages activated by the alternative pathway, eg. The IL-4) has been identified, the function of these cells in atherosclerosis is not yet defined. M2 macrophages have a high endocytic capacity, they promote remodeling of tissues and to have anti-inflammatory activity. However, in atherosclerosis, especially unstable plaques, severe inflammatory reaction, accumulation of cellular debris and intense degradation of the tissue is observed. Thus, it is possible that the M2 macrophages have altered function (phenotype) in atherosclerosis. Objective: Our aim is to evaluate if the presence of oxidized LDL alters the phenotype and function of M2 macrophages in vitro. Methods: For this, we will evaluate whether the addition of lipoprotein in M2 macrophages differentiated in vitro with IL -4 induces 1) a reduction in the secretion of anti-inflammatory cytokines (CBA and ELISA), 2) secretion of inflammatory cytokines (CBA and ELISA), 3) expression of cell activation markers (Flow cytometry), 4) alteration in gene expression of molecules adhesion and extracellular matrix (Real-Time PCR) and 5) Matrix degradation (confocal microscopy). Results: In oxLDL stimulated M2 macrophages cultures we did not find any differences in the expression of the cell surface markers tested, including: HLA-DR, CD80, CD86, CD206, CD163 and CD36. Also, cultures stimulated with oxLDL had similar phagocytic capacity when compared to unstimulated cells. However, in the supernatant of these cultures an increase in the secretion of the pro-inflammatory cytokine IL-8 was detected. No significant changes where observed in IL-6, IL-10, IL-12 and IL-1b levels. The culture supernatant also induced massive extracellular matrix (produced by mouse embryo fibroblast) filaments degradation. When evaluating the expression of 84 extracellular matrix and adhesion molecules genes, we observed that the stimulation of oxLDL in M2 macrophages decreased 47% of the genes and increased the expression of only 3% of the genes. In particular we noted that oxLDL inhibit the expression of 60% of the genes constituents of extracellular matrix and collagen expressed by these cells, including fibronectin1 and collagen VI. We also observed a decrease in the expression of matrix protease inhibitors, such as TIMP 2. On the opposite, the matricellular protein thrombospondin had a 12 fold increase in gene expression. In the presence of native LDL 90% of the genes had no altered expression. Conclusion: M2 macrophages stimulated with oxLDL secrete the pro-inflammatory cytokine IL-8, have an altered extracellular matrix constituents gene expression, and promote the degradation of extracellular matrix. M2 macrophages may contribute to the perpetuation of inflammation in atherosclerosis and to plaque rupture.

Keywords: atherosclerosis, LDL, macrophages, m2

Procedia PDF Downloads 314

Authors: Matthias Haenisch, Marc Godau, Julia Barreiro, Dominik Maxelon

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In times of ubiquitous digitalization and the increasing entanglement of humans and technologies in musical practices in the 21st century, it is to be asked, how popular musicians learn in the (post)digital Age. Against the backdrop of the increasing interest in transferring informal learning practices into formal settings of music education the interdisciplinary research association »MusCoDA – Musical Communities in the (Post)Digital Age« (University of Erfurt/University of Applied Sciences Clara Hoffbauer Potsdam, funded by the German Ministry of Education and Research, pursues the goal to derive an empirical model of collective songwriting practices from the study of informal lelearningf songwriters and bands that can be translated into pedagogical concepts for music education in schools. Drawing on concepts from Community of Musical Practice and Actor Network Theory, lelearnings considered not only as social practice and as participation in online and offline communities, but also as an effect of heterogeneous networks composed of human and non-human actors. Learning is not seen as an individual, cognitive process, but as the formation and transformation of actor networks, i.e., as a practice of assembling and mediating humans and technologies. Based on video stimulated recall interviews and videography of online and offline activities, songwriting practices are followed from the initial idea to different forms of performance and distribution. The data evaluation combines coding and mapping methods of Grounded Theory Methodology and Situational Analysis. This results in network maps in which both the temporality of creative practices and the material and spatial relations of human and technological actors are reconstructed. In addition, positional analyses document the power relations between the participants that structure the learning process of the field. In the area of online informal lelearninginitial key research findings reveal a transformation of the learning subject through the specific technological affordances of TikTok and Instagram and the accompanying changes in the learning practices of the corresponding online communities. Learning is explicitly shaped by the material agency of online tools and features and the social practices entangled with these technologies. Thus, any human online community member can be invited to directly intervene in creative decisions that contribute to the further compositional and structural development of songs. At the same time, participants can provide each other with intimate insights into songwriting processes in progress and have the opportunity to perform together with strangers and idols. Online Lelearnings characterized by an increase in social proximity, distribution of creative agency and informational exchange between participants. While it seems obvious that traditional notions not only of lelearningut also of the learning subject cannot be maintained, the question arises, how exactly the observed informal learning practices and the subject that emerges from the use of social media as online learning technologies can be transferred into contexts of formal learning

Keywords: informal learning, postdigitality, songwriting, actor-network theory, community of musical practice, social media, TikTok, Instagram, apps

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Authors: Joao Ferreira Do Rosario, Maria De Lurdes Calisto, Ana Teresa Machado, Nuno Gustavo, Rui Gonçalves

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The tourism sector is increasingly important to the economic performance of countries and a relevant theme to academic research, increasing the importance of understanding how and why tourists evaluate tourism locations. The city of Lisbon is currently a tourist destination of excellence in the European and world-wide panorama, registering a significant growth of the economic weight of its tourist activities in the Gross Added Value of the region. Although there is research on the feedback of those who visit tourist sites and different methodologies for studying tourist sites have been applied, this research seeks to be innovative in the objective of obtaining insights on the competitiveness in terms of attractiveness of the city of Lisbon as a tourist destination, based the feedback of tourists in the Facebook pages of the most visited museums and monuments of Lisbon, an interpretation that is relevant in the development of strategies of tourist attraction. The intangible dimension of the tourism offer, due to its unique condition of simultaneous production and consumption, makes eWOM particularly relevant. The testimony of consumers is thus a decisive factor in the decision-making and buying process in tourism. Online social networks are one of the most used platforms for tourists to evaluate the attractiveness's points of a tourism destination (e.g. cultural and historical heritage), with this user-generated feedback enabling relevant information about the customer-tourists. This information is related to the tourist experience representing the true voice of the customer. Furthermore, this voice perceived by others as genuine, opposite to marketing messages, may have a powerful word-of-mouth influence on other potential tourists. The relevance of online reviews sharing, however, becomes particularly complex, considering social media users’ different profiles or the possible and different sources of information available, as well as their associated reputation associated with each source. In the light of these trends, our research focuses on the tourists’ feedback on Facebook pages of the most visited museums and monuments of Lisbon that contribute to its attractiveness as a tourism destination. Sentiment Analysis is the methodology selected for this research, using public available information in the online context, which was deemed as an appropriate non-participatory observation method. Data will be collected from two museums (Museu dos Coches and Museu de Arte Antiga) and three monuments ((Mosteiro dos Jerónimos, Torre de Belém and Panteão Nacional) Facebook pages during a period of one year. The research results will help in the evaluation of the considered places by the tourists, their contribution to the city attractiveness and present insights helpful for the management decisions regarding this museums and monuments. The results of this study will also contribute to a better knowledge of the tourism sector, namely the identification of attributes in the evaluation and choice of the city of Lisbon as a tourist destination. Further research will evaluate the Lisbon attraction points for tourists in different categories beyond museums and monuments, will also evaluate the tourist feedback from other sources like TripAdvisor and apply the same methodology in other cities and country regions.

Keywords: Lisbon tourism, opinion mining, sentiment analysis, tourism location attractiveness evaluation

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Authors: Fabienne Samyn, Pauline Tranchard, Sophie Duquesne, Emilie Goncalves, Bruno Estebe, Serge Boubigot

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Stringent fire safety regulations are enforced in the aeronautical industry due to the consequences that potential fire event on an aircraft might imply. This is so much true that the fire issue is considered right from the design of the aircraft structure. Due to the incorporation of an increasing amount of polymer matrix composites in replacement of more conventional materials like metals, the nature of the fire risks is changing. The choice of materials used is consequently of prime importance as well as the evaluation of its resistance to fire. The fire testing is mostly done using the so-called certification tests according to standards such as the ISO2685:1998(E). The latter describes a protocol to evaluate the fire resistance of structures located in fire zone (ability to withstand fire for 5min). The test consists in exposing an at least 300x300mm² sample to an 1100°C propane flame with a calibrated heat flux of 116kW/m². This type of test is time-consuming, expensive and gives access to limited information in terms of fire behavior of the materials (pass or fail test). Consequently, it can barely be used for material development purposes. In this context, the laboratory UMET in collaboration with industrial partners has developed a horizontal and a vertical small-scale instrumented fire benches for the characterization of the fire behavior of composites. The benches using smaller samples (no more than 150x150mm²) enables to cut downs costs and hence to increase sampling throughput. However, the main added value of our benches is the instrumentation used to collect useful information to understand the behavior of the materials. Indeed, measurements of the sample backside temperature are performed using IR camera in both configurations. In addition, for the vertical set up, a complete characterization of the degradation process, can be achieved via mass loss measurements and quantification of the gasses released during the tests. These benches have been used to characterize and study the fire behavior of aeronautical carbon/epoxy composites. The horizontal set up has been used in particular to study the performances and durability of protective intumescent coating on 2mm thick 2D laminates. The efficiency of this approach has been validated, and the optimized coating thickness has been determined as well as the performances after aging. Reductions of the performances after aging were attributed to the migration of some of the coating additives. The vertical set up has enabled to investigate the degradation process of composites under fire. An isotropic and a unidirectional 4mm thick laminates have been characterized using the bench and post-fire analyses. The mass loss measurements and the gas phase analyses of both composites do not present significant differences unlike the temperature profiles in the thickness of the samples. The differences have been attributed to differences of thermal conductivity as well as delamination that is much more pronounced for the isotropic composite (observed on the IR-images). This has been confirmed by X-ray microtomography. The developed benches have proven to be valuable tools to develop fire safe composites.

Keywords: aeronautical carbon/epoxy composite, durability, intumescent coating, small-scale ‘ISO 2685 like’ fire resistance test, X-ray microtomography

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Authors: Tramuta Clara, Masotti Chiara, Pitti Monica, Adriano Daniela, Battistini Roberta, Serraca Laura, Decastelli Lucia

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Oysters are considered filter organisms, and their raw consumption may increase health risks for consumers: it is often associated with outbreaks of gastroenteritis or enteric illnesses. Most of these foodborne diseases are caused by Vibrio strains, enteric pathogens also involved in the diffusion of genetic determinants of antibiotic resistance and their entrance along the food chain. The European Food Safety Authority (EFSA), during the European Union report on antimicrobial resistance in 2017, focused the attention about the role of food as a possible carrier of antibiotic-resistant bacteria or antibiotic-resistance genes that determine health risks for humans. This study wants to determine antibiotic resistance and antibiotic-resistance genes in Vibrio spp. isolated from Crassostrea gigas oysters collected in the Golfo della Spezia (Liguria, Italy). A total of 47 Vibrio spp. strains were isolated (ISO21872-2:2017) during the summer of 2021 from oysters of Crassostrea gigas. The strains were identified by MALDI-TOF (Bruker, Germany) mass spectrometry and tested for antibiotic susceptibility using a broth microdiluition method (ISO20776-1:2019) using Sensititre EUVSEC plates (Thermo-Fisher Scientific) to obtain the Minimum Inhibitory Concentration (MIC). The strains were tested with PCR-based biomolecular methods, according to previous works, to define the presence of 23 resistance genes of the main classes of antibiotics used in human and veterinary medicine: tet (B), tet (C), tet (D), tet (A), tet (E), tet (G ), tet (K), tet (L), tet (M), tet (O), tet (S) (tetracycline resistance); blaCTX-M, blaTEM, blaOXA, blaSHV (β-lactam resistance); mcr-1 and mcr-2 (colistin resistance); qnrA, qnrB, and qnrS (quinolone resistance); sul1, sul2 and sul3 (sulfonamide resistance). Six different species have been identified: V. alginolyticus 34% (n=16), V. harveyi 28% (n=13), V. fortis 15% (n=7), V. pelagius 8% (n=4), V. parahaemolyticus 11% (n=5) e V. chagasii 4% (n=2). The PCR assays showed the presence of the blaTEM gene on 40% of the strains (n=19). All the other genes were not detected, except for a V. alginolyticus positive for anrS gene. The broth microdiluition method results showed an high level of resistance for ciprofloxacin (62%; n=29), ampicillin (47%; n=22), and colistin (49%; n=23). Furthermore, 32% (n=15) of strains can be considered multiresistant bacteria for the simultaneous presence of resistance for three different antibiotic classes. Susceptibility towards meropenem, azithromycin, gentamicin, ceftazidime, cefotaxime, chloramphenicol, tetracycline and sulphamethoxazole reached 100%. The Vibrio species identified in this study are widespread in marine environments and can cause gastrointerstinal infections after the ingestion of raw fish products and bivalve molluscs. The level of resistance to antibiotics such as ampicillin, ciprofloxacin and colistin can be connected to anthropic factors (industrial, agricultural and domestic wastes) that promote the spread of resistance to these antibiotics. It can be also observed a strong correlation between phenotypic (resistant MIC) and genotypic (positive blaTEM gene) resistance for ampicillin on the same strains, probably due to the transfer of genetic material between bacterial strains. Consumption of raw bivalve molluscs can represent a risk for consumers heath due to the potentially presence of foodborne pathogens, highly resistant to different antibiotics and source of transferable antibiotic-resistant genes.

Keywords: vibrio species, blaTEM genes, antimicrobial resistance, PCR

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Authors: Sofia N. Gonçalves, Duarte M. S. Albuquerque, José C. F. Pereira

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The energy transition is spurred by structural changes in energy demand, supply, and prices. Microwave technology was first proposed as a faster alternative for cooking food. It was found that food heated instantly when interacting with high-frequency electromagnetic waves. The dielectric properties account for a material’s ability to absorb electromagnetic energy and dissipate this energy in the form of heat. Many energy-intense industries could benefit from electromagnetic heating since many of the raw materials are dielectric at high temperatures. Limestone sedimentary rock is a dielectric material intensively used in the cement industry to produce unslaked lime. A numerical 3D model was implemented in COMSOL Multiphysics to study the limestone continuous processing under microwave heating. The model solves the two-way coupling between the Energy equation and Maxwell’s equations as well as the coupling between heat transfer and chemical interfaces. Complementary, a controller was implemented to optimize the overall heating efficiency and control the numerical model stability. This was done by continuously matching the cavity impedance and predicting the required energy for the system, avoiding energy inefficiencies. This controller was developed in MATLAB and successfully fulfilled all these goals. The limestone load influence on thermal decomposition and overall process efficiency was the main object of this study. The procedure considered the Verification and Validation of the chemical kinetics model separately from the coupled model. The chemical model was found to correctly describe the chosen kinetic equation, and the coupled model successfully solved the equations describing the numerical model. The interaction between flow of material and electric field Poynting vector revealed to influence limestone decomposition, as a result from the low dielectric properties of limestone. The numerical model considered this effect and took advantage from this interaction. The model was demonstrated to be highly unstable when solving non-linear temperature distributions. Limestone has a dielectric loss response that increases with temperature and has low thermal conductivity. For this reason, limestone is prone to produce thermal runaway under electromagnetic heating, as well as numerical model instabilities. Five different scenarios were tested by considering a material fill ratio of 30%, 50%, 65%, 80%, and 100%. Simulating the tube rotation for mixing enhancement was proven to be beneficial and crucial for all loads considered. When uniform temperature distribution is accomplished, the electromagnetic field and material interaction is facilitated. The results pointed out the inefficient development of the electric field within the bed for 30% fill ratio. The thermal efficiency showed the propensity to stabilize around 90%for loads higher than 50%. The process accomplished a maximum microwave efficiency of 75% for the 80% fill ratio, sustaining that the tube has an optimal fill of material. Electric field peak detachment was observed for the case with 100% fill ratio, justifying the lower efficiencies compared to 80%. Microwave technology has been demonstrated to be an important ally for the decarbonization of the cement industry.

Keywords: CFD numerical simulations, efficiency optimization, electromagnetic heating, impedance matching, limestone continuous processing

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Authors: Artem Kim, Clara Savary, Christele Dubourg, Wilfrid Carre, Houda Hamdi-Roze, Valerie Dupé, Sylvie Odent, Marie De Tayrac, Veronique David

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Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from the incomplete separation of the two cerebral hemispheres. It is characterized by a wide phenotypic spectrum and a high degree of locus heterogeneity. Genetic defects in 16 genes have already been implicated in HPE, but account for only 30% of cases, suggesting that a large part of genetic factors remains to be discovered. HPE has been recently redefined as a complex multigenic disorder, requiring the joint effect of multiple mutational events in genes belonging to one or several developmental pathways. The onset of HPE may result from accumulation of the effects of multiple rare variants in functionally-related genes, each conferring a moderate increase in the risk of HPE onset. In order to decipher the genetic basis of HPE, unconventional patterns of inheritance involving multiple genetic factors need to be considered. The primary objective of this study was to uncover possible disease causing combinations of multiple rare variants underlying HPE by performing trio-based Whole Exome Sequencing (WES) of familial cases where no molecular diagnosis could be established. 39 families were selected with no fully-penetrant causal mutation in known HPE gene, no chromosomic aberrations/copy number variants and without any implication of environmental factors. As the main challenge was to identify disease-related variants among a large number of nonpathogenic polymorphisms detected by WES classical scheme, a novel variant prioritization approach was established. It combined WES filtering with complementary gene-level approaches: transcriptome-driven (RNA-Seq data) and clinically-driven (public clinical data) strategies. Briefly, a filtering approach was performed to select variants compatible with disease segregation, population frequency and pathogenicity prediction to identify an exhaustive list of rare deleterious variants. The exome search space was then reduced by restricting the analysis to candidate genes identified by either transcriptome-driven strategy (genes sharing highly similar expression patterns with known HPE genes during cerebral development) or clinically-driven strategy (genes associated to phenotypes of interest overlapping with HPE). Deeper analyses of candidate variants were then performed on a family-by-family basis. These included the exploration of clinical information, expression studies, variant characteristics, recurrence of mutated genes and available biological knowledge. A novel bioinformatics pipeline was designed. Applied to the 39 families, this final integrated workflow identified an average of 11 candidate variants per family. Most of candidate variants were inherited from asymptomatic parents suggesting a multigenic inheritance pattern requiring the association of multiple mutational events. The manual analysis highlighted 5 new strong HPE candidate genes showing recurrences in distinct families. Functional validations of these genes are foreseen.

Keywords: complex genetic disorder, holoprosencephaly, multiple rare variants, whole exome sequencing

Procedia PDF Downloads 182