Search results for: anti-collision protocols

Authors: Seema Ahlawat, Parul Saxena, Malik Zainul Abdin

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Malaria is a major health problem in many developing countries. The parasite responsible for the vast majority of fatal malaria infections is Plasmodium falciparum. Unfortunately, most Plasmodium strains including P. falciparum have become resistant to most of the antimalarials including chloroquine, mefloquine, etc. To combat this problem, WHO has recommended the use of artemisinin and its derivatives in artemisinin based combination therapy (ACT). Due to its current use in artemisinin based-combination therapy (ACT), its global demand is increasing continuously. But, the relatively low yield of artemisinin in A. annua L. plants and unavailability of economically viable synthetic protocols are the major bottlenecks for its commercial production and clinical use. Chemical synthesis of artemisinin is also very complex and uneconomical. The hairy root system, using the Agrobacterium rhizogenes LBA 9402 strain to enhance the production of artemisinin in A. annua L., is developed in our laboratory. The transgenic nature of hairy root lines and the copy number of trans gene (rol B) were confirmed using PCR and Southern Blot analyses, respectively. The effect of different concentrations of Piriformospora indica on artemisinin production in hairy root cultures were evaluated. 3% P. indica has resulted 1.97 times increase in artemisinin production in comparison to control cultures. The effects of P. indica on artemisinin production was positively correlated with regulatory genes of MVA, MEP and artemisinin biosynthetic pathways, viz. hmgr, ads, cyp71av1, aldh1, dxs, dxr and dbr2 in hairy root cultures of A. annua L. Mass scale cultivation of A. annua L. hairy roots by plant tissue culture technology may be an alternative route for production of artemisinin. A comprehensive investigation of the hairy root system of A. annua L. would help in developing a viable process for the production of artemisinin. The efficiency of the scaling up systems still needs optimization before industrial exploitation becomes viable.

Keywords: A. annua L., artemisinin, hairy root cultures, malaria

Procedia PDF Downloads 391

Authors: Ashana Gupta

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Aim: In the UK, Botulinum Toxin (botox) is authorised for treating chronic myofascial pain secondary to masseter muscle hypertrophy (Fedorowicz et al. 2013). This audit aimed to ensure the Maxillofacial Unit is meeting the trust guidelines for the safe storage and disposal of botox. Method: The trust upholds a strict policy for botox handling. The audit was designed to optimise several elements including Staff awareness of regulations around botox handling A questionnaire was designed to test knowledge of advised storage temperatures, reporting of adverse events, disposal procedures and regulatory authorities. Steps taken to safely delivertoxin and eliminate unused toxin. A checklist was completed. These include marks for storagetemperature, identification checks, disposal of sharps, deactivation of toxin, and disposal. Results: All staff correctly stated storage requirements for toxin. 75% staff (n=8) were unsure about reporting and regulations. Whilst all staff knew how to dispose of vials, 0% staff showed awareness for the crucial step of deactivating toxin. All checklists (n=20) scored 100% for adequate storage, ID checks, and toxin disposal. However, there were no steps taken to deactivate toxin in any cases. Staff training took place with revision to clinical protocols. In line with Trust guidelines, an additional clinical step has been introduced including use of 0.5% sodium hypochlorite to deactivate botox. Conclusion: Deactivation is crucial to ensure residual toxin is not misused. There are cases of stolen botox within South-Tees Hospital (Woodcock, 2014). This audit was successful in increasing compliance to safe handling and disposal of botox by 100% and ensured our hospitalmeets Trust guidance.

Keywords: botulinum toxin, aesthetics, handling, disposal

Procedia PDF Downloads 163

Authors: Ansah Iris Baffour, Dong-Ho Kim, Sung-Gyu Park

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The ongoing COVID-19 pandemic, caused by the SARS-CoV-2 virus and is gradually shifting to an endemic phase which implies the outbreak is far from over and will be difficult to eradicate. Global cooperation has led to unified precautions that aim to suppress epidemiological spread (e.g., through travel restrictions) and reach herd immunity (through vaccinations); however, the primary strategy to restrain the spread of the virus in mass populations relies on screening protocols that enable rapid on-site diagnosis of infections. Herein, we employed surface enhanced Raman spectroscopy (SERS) for the rapid detection of SARS-CoV-2 lysate on an Au-modified Au nanodimple(AuND)electrode. Through in situone-pot Au electrodeposition on the AuND electrode, Au-lysate nanocomposites were synthesized, generating3D internal hotspots for large SERS signal enhancements within 30 s of the deposition. The capture of lysate into newly generated plasmonic nanogaps within the nanocomposite structures enhanced metal-spike protein contact in 3D spaces and served as hotspots for sensitive detection. The limit of detection of SARS-CoV-2 lysate was 5 x 10-2 PFU/mL. Interestingly, ultrasensitive detection of the lysates of influenza A/H1N1 and respiratory syncytial virus (RSV) was possible, but the method showed ultimate selectivity for SARS-CoV-2 in lysate solution mixtures. We investigated the practical application of the approach for rapid on-site diagnosis by detecting SARS-CoV-2 lysate spiked in normal human saliva at ultralow concentrations. The results presented demonstrate the reliability and sensitivity of the assay for rapid diagnosis of COVID-19.

Keywords: label-free detection, nanocomposites, SARS-CoV-2, surface-enhanced raman spectroscopy

Procedia PDF Downloads 91

Authors: Deria Adi Wijaya, Amad Saeroji, Jimmi Sandi P., Nanang Wijayanto

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Tourism and the creative economy are combinations that can become a sustainable source of welfare that can boost the economy so as to increase the country's foreign exchange. Therefore the development of the tourism sector is one of the priorities in President Joko Widodo's leadership framework for the 2019-2024 period. Entering the current pandemic, each party is required to be able to implement strict health protocols to slow the rate of SARS-Cov2 infection, or what is known as the coronavirus, but on the other hand, the need to turn the wheels of the economy must continue. Therefore, an effort is needed to develop tourism activities that are full of experiences that add health benefits. Anticipating this, the Ministry of Tourism and Creative Economy collaborated with the Ministry of Health to offer an innovative development model, namely wellness tourism. The development of wellness tourism is an alternative that can make a positive contribution to the development of Indonesian tourism during the pandemic. This research seeks to synergize efforts to develop national tourism into the regional sphere; in this case, Baluwarti Tourism Village, which is located within the walls of the Surakarta Sunanate Palace, has the potential to be developed into a wellness tourism destination in Surakarta City. Considering that a village that is in the immediate vicinity of a palace certainly has a variety of potential attractions for royal wellness tourism. The main objectives of this study are 1) to identify the potential for palace-style wellness tourism in Baluwarti Tourism Village; 2) to formulate development in the form of tour packages in Baluwarti Tourism Village. Of course, the development of the wellness tour package is still based on local wisdom, namely a tour package that raises local potential as a palace-style wellness tourism attraction that can improve the economy of the local people through the tourism sector in the post-pandemic era.

Keywords: potential, wellness tourism, Baluwarti Tourism Village, Surakarta Sunanate Palace, Surakarta City

Procedia PDF Downloads 51

Authors: Debasmita Mukhopadhyay, Manika Pal Bhadra

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MiRNAs contribute to oncogenesis either as tumor suppressors or oncogenes. Hence, discovery of miRNA-based therapeutics are imperative to ameliorate cancer. Modulation of miRNA maturation is accomplished via several therapeutic agents, including small molecules and oligonucleotides. Due to the attractive pharmacokinetic properties of small molecules over oligonucleotides, we set to identify small molecule inhibitors of a metastasis-inducing microRNA. Cytotoxicity profile of aza-flavanone C1 was analyzed in a panel of breast cancer cells employing the NCI-60 screen protocols. Flow cytometry, immunofluorescence and western blotting of apoptotic or EMT markers were performed to analyze the effect of C1. A dual luciferase assay unequivocally suggested that C1 repressed endogenous miR-10b in MDA-MB-231 cells. A derivative of aza-flavanone C1 is shown as a strong inhibitor miR-10b. Blockade of miR-10b by C1 resulted in decreased expression of miR-10b targets in an aggressive breast cancer cell line model, MDA-MB-231. Abrogation of TWIST1, an EMT-inducing transcription factor also contributed to C1 mediated apoptosis. Moreover C1 exhibited a specific and selective down-regulation of miR-10b and did not function as a general inhibitor of miRNA biogenesis or other oncomiRs of breast carcinoma. Aza-flavanone congener C1 functions as a potent inhibitor of the metastasis-inducing microRNA, miR-10b. Our present study provides evidence for targeting metastasis-inducing microRNA, miR-10b with a derivative of Aza-flavanone. Better pharmacokinetic properties of small molecules place them as attractive agents compared to nucleic acids based therapies to target miRNA. Further work, in generating analogues based on aza-flavanone moieties will significantly improve the affinity of the small molecules to bind miR-10b. Finally, it is imperative to develop small molecules as novel miRNA-therapeutics in the fight against cancer.

Keywords: breast cancer, microRNA, metastasis, EMT

Procedia PDF Downloads 517

Authors: Dasat G. S., Christopher F. Tim, J. Dun C.

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Salt marshes are known to sequester carbon dioxide from the atmosphere into the soil, but natural and anthropogenic activities could trigger the release of large quantities of centuries of buried carbon dioxide, methane and nitrous oxide (CO2, CH4 and N2O) which are the major greenhouse gases (GHGs) implicated with climate change. Therefore, this study investigated the biogeochemical activities by collecting soil samples from low, mid and high zones of the Cefni salt marsh, within the Maltreat estuary, on the island of Anglesey, north Wales, United Kingdom for a consortium of laboratory based experiments using standard operating protocols (POS) to quantify the soil organic matter contents and the rate of microbial decomposition and carbon storage at the Carbon Capture Laboratory of Bangor University Wales. Results of investigations reveals that the mid zone had 56.23% and 9.98% of soil water and soil organic matter (SOM) contents respectively higher than the low and high zones. Phenol oxidase activity (1193.53µmol dicq g-1 h-1) was highest at the low zone in comparison to the high and mid zones (867.60 and 608.74 µmol dicq g-1 h-1) respectively. Soil phenolic concentration was found to be highest in the mid zone (53.25 µg-1 g-1) when compared with those from the high (15.66 µg-1 g-1) and low (4.18 µg-1 g-1) zones respectively. Activities of hydrolase enzymes showed similar trend for the high and low zones and much lower activities in the mid zone. CO2 flux from the mid zone (6.79 ug g-1 h-1) was significantly greater than those from high (-2.29 ug g-1 h-1) and low (1.30 µg g-1 h-1) zones. Since salt marshes provide essential ecosystem services, their degradation or alteration in whatever form could compromise such ecosystem services and could convert them from net sinks into net sources with consequential effects to the global environment.

Keywords: saltmarsh, decomposition, carbon cycling, enzymes

Procedia PDF Downloads 44

Authors: Elfatih M. Abdel-Rahman, Tobias Landmann, Richard Kyalo, George Ong’amo, Bruno Le Ru

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Maize (Zea mays L.) is a major staple food crop in Africa, particularly in the eastern region of the continent. The maize growing area in Africa spans over 25 million ha and 84% of rural households in Africa cultivate maize mainly as a means to generate food and income. Average maize yields in Sub Saharan Africa are 1.4 t/ha as compared to global average of 2.5–3.9 t/ha due to biotic and abiotic constraints. Amongst the biotic production constraints in Africa, stem borers are the most injurious. In East Africa, yield losses due to stem borers are currently estimated between 12% to 40% of the total production. The objective of the present study was therefore to predict stem borer larvae density in maize fields using RapidEye reflectance data and generalized linear models (GLMs). RapidEye images were captured for a test site in Kenya (Machakos) in January and in February 2015. Stem borer larva numbers were modeled using GLMs assuming Poisson (Po) and negative binomial (NB) distributions with error with log arithmetic link. Root mean square error (RMSE) and ratio prediction to deviation (RPD) statistics were employed to assess the models performance using a leave one-out cross-validation approach. Results showed that NB models outperformed Po ones in all study sites. RMSE and RPD ranged between 0.95 and 2.70, and between 2.39 and 6.81, respectively. Overall, all models performed similar when used the January and the February image data. We conclude that reflectance data from RapidEye data can be used to estimate stem borer larvae density. The developed models could to improve decision making regarding controlling maize stem borers using various integrated pest management (IPM) protocols.

Keywords: maize, stem borers, density, RapidEye, GLM

Procedia PDF Downloads 464

Authors: Melvin Ouma

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Language is one of the most crucial tools in medical interaction. Its importance is as great today as it was many decades ago. Difficulty in openly discussing certain diseases and body parts is one of the challenges in language use in medical contexts. Guided by H. P. Grice’s Cooperative Principle, this paper explores the flouting of the cooperative principles in Swahili speaking medical setting. The paper examines how men flout the maxims using the Swahili language when reporting reproductive health problems to the doctor. The data used was gathered from a qualitative study carried out in a reproductive health clinic in a public facility in Nakuru County, Kenya. All the research protocols were observed by acquiring all the research permits. Respondents' ethical considerations of consent, privacy, and confidentiality were observed. The respondents recruited were men who visited the reproductive health clinic and voluntarily agreed to participate in the study without coercion or compensation. Participant observation was the key data collection tool, with the doctor and patient conversation digitally recorded. The researcher was allowed into the clinic in a socially acceptable role. Male patients flouted the maxims of quantity, quality, relation, and manner in order to describe their reproductive health problems without embarrassment using the Swahili language. The flouting was done through the discursive strategies of narration and circumlocution. Flouting of the maxims was acceptable to the doctor and patient due to the fact that sexual intercourse and private body parts are taboo topics and uncomfortable to talk about. The quality of health care received by the patient depended on the doctor’s patience when all the maxims were flouted. In the reproductive health clinic, flouting of maxims hindered communication and, at the same time, enhanced communication between the doctor and patient.

Keywords: cooperative principle, doctor, men, reproductive health

Procedia PDF Downloads 57

Authors: Diane Ghanem, Whitney Kagabo, Rebecca Engels, Uma Srikumaran, Babar Shafiq

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Hospitalist co-management of orthopaedic surgery patients is a growing trend across the country. It was created as a collaborative effort to provide overarching care to patients with the goal of improving their postoperative care and decreasing in-hospital medical complications. The aim of this project is to provide a guide for implementing and optimizing a hospitalist co-management service in orthopaedic surgery. Key leaders from the hospitalist team, orthopaedic team and quality, safety and service team were identified. Multiple meetings were convened to discuss the comanagement service and determine the necessary building blocks behind an efficient and well-designed co-management framework. After meticulous deliberation, a consensus was reached on the final service agreement and a written guide was drafted. Fundamental features of the service include the identification of service stakeholders and leaders, frequent consensus meetings, a well-defined framework, with goals, program metrics and unified commands, and a regular satisfaction assessment to update and improve the program. Identified pearls for co-managing orthopaedic surgery patients are standardization, timing, adequate patient selection, and two-way feedback between hospitalists and orthopaedic surgeons to optimize the protocols. Developing a service agreement is a constant work in progress, with meetings, discussions, revisions, and multiple piloting attempts before implementation. It is a partnership created to provide hospitals with a streamlined admission process where at-risk patients are identified early, and patient care is optimized regardless of the number or nature of medical comorbidities. A wellestablished hospitalist co-management service can increase patient care quality and safety, as well as health care value.

Keywords: co-management, hospitalist co-management, implementation, orthopaedic surgery, quality improvement

Procedia PDF Downloads 49

Authors: Hyunsun Lee, Yi Zhu

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Wireless ad-hoc network is a decentralized type of temporary machine-to-machine connection that is spontaneous or impromptu so that it does not rely on any fixed infrastructure and centralized administration. As unmanned aerial vehicles (UAVs), also called drones, have recently become more accessible and widely utilized in military and civilian domains such as surveillance, search and detection missions, traffic monitoring, remote filming, product delivery, to name a few. The communication between these UAVs become possible and materialized through Flying Ad-hoc Networks (FANETs). However, due to the high mobility of UAVs that may cause different types of transmission interference, it is vital to design robust routing protocols for FANETs. In this talk, the multicast routing method based on a modified stochastic branching process is proposed. The stochastic branching process is often used to describe an early stage of an infectious disease outbreak, and the reproductive number in the process is used to classify the outbreak into a major or minor outbreak. The reproductive number to regulate the local transmission rate is adapted and modified for flying ad-hoc network communication. The performance of the proposed routing method is compared with other well-known methods such as flooding method and gossip method based on three measures; average reachability, average node usage and average branching factor. The proposed routing method achieves average reachability very closer to flooding method, average node usage closer to gossip method, and outstanding average branching factor among methods. It can be concluded that the proposed multicast routing scheme is more efficient than well-known routing schemes such as flooding and gossip while it maintains high performance.

Keywords: Flying Ad-hoc Networks, Multicast Routing, Stochastic Branching Process, Unmanned Aerial Vehicles

Procedia PDF Downloads 86

Authors: Latif Duran, Erdem Aydin, Ahmet Baydin, Ali Kemal Erenler, Iskender Aksoy

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Aim: In this retrospective study, we aim to contribute to the literature by presenting the proposals for taking measures to reduce the mortality by examining the demographic characteristics of the pediatric age group patients presenting with trauma and the factors that may cause mortality Material and Method: This study has been performed by retrospectively investigating the data obtained from the patient files and the hospital automation registration system of the pediatric trauma patients who applied to the Adult Emergency Department of the Ondokuz Mayıs University Medical Faculty between January 1, 2016, and December 31, 2016. Results: 289 of 415 patients involved in our study, were males. The median age was 11.3 years. The most common trauma mechanism was falling from the high. A significant statistical difference was found on the association between trauma mechanisms and gender. An increase in the number of trauma cases was found especially in the summer months. The study showed that thoracic and abdominal trauma was relevant to the increased mortality. Computerized tomography was the most common diagnostic imaging modality. The presence of subarachnoid hemorrhage has increased the risk of mortality by 62.3 fold. Eight of the patients (1.9%) died. Scoring systems were statistically significant to predict mortality. Conclusion: Children are vulnerable to trauma because of their unique anatomical and physiological differences compared to adult patient groups. It will be more successful in the mortality rate and in the post-traumatic healing process by administering the patient triage fast and most appropriate trauma centers in the prehospital period, management of the critical patients with the scoring systems and management with standard treatment protocols

Keywords: emergency service, pediatric patients, scoring systems, trauma, age groups

Procedia PDF Downloads 165

Authors: Uwera Monique, Bagweneza Vedaste, Rugema Joselyne, Lakshmi Rajeswaran

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Background: Malnutrition contributes significantly to childhood morbidity and mortality. Nurses usually exhibit inadequate knowledge of childhood malnutrition management. Nurses require appropriate knowledge and skills to manage malnutrition using appropriate protocols. Objectives: The general objective of this study was to assess Nurses’ knowledge and practice in the management of childhood malnutrition in selected health centers in Rwanda. The specific objectives were to assess the level of nurses’ knowledge in the management of childhood malnutrition, to determine the level of practice in the management of childhood malnutrition in selected health centers in Rwanda, and to establish the relationship between the demographic profile and nurses’ knowledge in the management of childhood malnutrition in selected health centers in Rwanda. Methods: The study used a descriptive cross-sectional study design and quantitative approach among 196 nurses from 24 health centers in one district. A questionnaire was used to collect data on knowledge and practice towards childhood malnutrition management. The entire population was used, and SPSS version 25 helped to analyze data. Descriptive statistics helped to produce the frequencies and percentages, while chi-square helped to determine the relationship between demographic variables and knowledge and practice scores. Results: The study findings showed that of 196 participants, 48% had a high level of knowledge about malnutrition management with more than 75% score, and 17% and 35% had low and moderate levels of knowledge, respectively. 61% of them had a high level of practice in malnutrition management, as the acceptable score was 75%. 13% had a low level, while 26% had a moderate level of practice. Most socio-demographic characteristics have shown a statistical relationship with the level of knowledge. Conclusion: The study findings revealed that almost half of the nurses had good knowledge of childhood malnutrition management, and this was associated with many socio-demographic data, while more than half had good practice in that aspect. However, some nurses who still have gaps in knowledge and practice require necessary measures to boost these components.

Keywords: nurse, knowledge, practice, childhood malnutrition

Procedia PDF Downloads 37

Authors: Samaneh Nazemi, Ayla Bahramian, Marzieh Aghazadeh

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Saliva is a clear liquid composed of water, electrolytes, glucose, amylase, glycoproteins, and antimicrobial enzymes. The presence of a wide range of molecules and proteins in saliva has made this fluid valuable in screening for some diseases as well as epidemiological studies. Saliva is easier than serum to collect in large populations. Due to the importance of sodium and glucose levels in many biological processes, this study investigates the relationship between sodium and glucose levels in salivary and serum samples of healthy individuals referring to Tabriz Dental School. This descriptive-analytical study was performed on 40 healthy individuals referred to the Oral Diseases Department of Tabriz Dental School. Serum and saliva samples were taken from these patients according to standard protocols. Data were presented as mean (standard deviation) and frequency (percentage) for quantitative and qualitative variables. Pearson test, paired-samples T-test and SPSS 24 software were used to determine the correlation between serum and salivary levels of these biomarkers. In this study, P less than 0.05% is considered significant. Out of 40 participants in this study, 14 (35%) were male, and 26 (65%) were female. According to the results of this study, the mean salivary sodium (127.53 ml/dl) was lower than the mean serum sodium (141.2725 ml/dl). In contrast, the mean salivary glucose (4.55 ml/dl) was lower than the mean serum glucose (89.7575 ml/dl). The result of paired samples T-test (p-value<0.05) showed that there is a statistically significant difference between the mean of serum sodium and salivary sodium, as well as between the serum glucose and salivary glucose. Pearson correlation test results showed that there is no significant correlation between serum sodium and salivary sodium (p-value >0.05), but here is a positive correlation between serum glucose and salivary glucose (p-value<0.001). Both serum sodium and glucose were higher than salivary sodium and glucose.In conclusion, this study found that there was not a statistical relationship between salivary glucose and serum glucose and also salivary sodium and serum sodium of healthy individuals. Perhaps salivary samples can’t be used to measure glucose and sodium in these individuals.

Keywords: glucose, saliva, serum, sodium

Procedia PDF Downloads 223

Authors: Kevin Montanez, Patricia Garcia

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The confinement and restrictions adopted to avoid an exponential spread of the COVID-19 have negatively impacted the Peruvian economy. In this context, Industries offering essential products could continue operating, but they have to follow safety protocols and implement strategies to ensure employee health. In view of the increasing internet access and mobile phone ownership, “Alerta Temprana”, a mobile app, was developed to self-report COVID-19 symptoms in the work context. In this study, the usability of the mobile app “Alerta Temprana” was evaluated from the perspective of health monitors and workers. In addition to reporting the metrics related to the usability of the application, the utility of the system is also evaluated from the monitors' perspective. In this descriptive study, the participants used the mobile app for two months. Afterwards, System Usability Scale (SUS) questionnaire was answered by the workers and monitors. A Usefulness questionnaire with open questions was also used for the monitors. The data related to the use of the application was collected during one month. Furthermore, descriptive statistics and bivariate analysis were used. The workers rated the application as good (70.39). In the case of the monitors, usability was excellent (83.0). The most important feature for the monitors were the emails generated by the application. The average interaction per user was 30 seconds and a total of 6172 self-reports were sent. Finally, a statistically significant association was found between the acceptability scale and the work area. The results of this study suggest that Alerta Temprana has the potential to be used for surveillance and health monitoring in any context of face-to-face modality. Participants reported a high degree of ease of use. However, from the perspective of workers, SUS cannot diagnose usability issues and we suggest we use another standard usability questionnaire to improve "Alerta Temprana" for future use.

Keywords: public health in informatics, mobile app, usability, self-report

Procedia PDF Downloads 71

Authors: Galal Omer, Onisimo Mutanga, Elfatih M. Abdel-Rahman, Elhadi Adam

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Threatened tree species (TTS) play a significant role in ecosystem functioning and services, land use dynamics, and other socio-economic aspects. Such aspects include ecological, economic, livelihood, security-based, and well-being benefits. The development of techniques for mapping and monitoring TTS is thus critical for understanding the functioning of ecosystems. The advent of advanced imaging systems and supervised learning algorithms has provided an opportunity to classify TTS over fragmenting landscape. Recently, vegetation maps have been produced using advanced imaging systems such as WorldView-2 (WV-2) and robust classification algorithms such as support vectors machines (SVM) and artificial neural network (ANN). However, delineation of TTS in a fragmenting landscape using high resolution imagery has widely remained elusive due to the complexity of the species structure and their distribution. Therefore, the objective of the current study was to examine the utility of the advanced WV-2 data for mapping TTS in the fragmenting Dukuduku indigenous forest of South Africa using SVM and ANN classification algorithms. The results showed the robustness of the two machine learning algorithms with an overall accuracy (OA) of 77.00% (total disagreement = 23.00%) for SVM and 75.00% (total disagreement = 25.00%) for ANN using all eight bands of WV-2 (8B). This study concludes that SVM and ANN classification algorithms with WV-2 8B have the potential to classify TTS in the Dukuduku indigenous forest. This study offers relatively accurate information that is important for forest managers to make informed decisions regarding management and conservation protocols of TTS.

Keywords: artificial neural network, threatened tree species, indigenous forest, support vector machines

Procedia PDF Downloads 487

Authors: Ainur Mukhambetova, Miras Karzhauov, Vyacheslav Ogay

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Introduction: Mesenchymal stem cells (MSCs) have the capacity to be differentiated into several cell lineages and are a promising source for cell therapy and tissue engineering. However, currently most MSCs culturing protocols use media supplemented with fetal bovine serum (FBS), which limits their application in clinic due to the possibility of zoonotic infections, contamination and immunological reactions. Consequently, formulating effective serum free culture medium becomes one of the important problems in contemporary cell biotechnology. Objectives: The aim of this study was to define an optimal serum-free medium for culturing of periosteum derived MSCs. Materials and methods: The MSCs were extracted from human periosteum and transferred to the culture flasks pretreated with CELLstart™. Immunophenotypic characterization, proliferation and in vitro differentiation of cells grown on STEM PRO® MSC SFM were compared to the cells cultured in the standard FBS containing media. Chromosome analysis and flow cytometry were also performed. Results: We have shown that cells were grown on STEM PRO® MSC SFM retained all the morphological, immunophenotypic (CD73, CD90, CD105, vimentin and Stro-1) and cell differentiation characteristics specific to MSCs. Chromosome analysis indicated no anomalies in the chromosome structure. Flow cytometry showed a high expression of cell adhesion molecules CD44 (98,8%), CD90 (97,4%), CD105 (99,1%). In addition, we have shown that cell is grown on STEM PRO® MSC SFM have higher proliferation capacity compared to cell expanded on standard FBS containing the medium. Conclusion: We have shown that STEM PRO® MSC SFM is optimal for culturing periosteum derived human MSCs which subsequently can be safely used in cell therapy.

Keywords: cell technologies, periosteum-derived MSCs, regenerative medicine, serum-free medium

Procedia PDF Downloads 273

Authors: Ibrahim Alreshidi, Aseel Albrekeit, Ruaa Alharthi

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Background: As a result of the spread of COVID-19 at the beginning of 2020, many governments, including Saudi Arabia, have suspended operations in many agencies. Most dermatologists have restricted their practice, including cosmetic procedures, to ensure social distancing. On the 7th of May 2020, Saudi authorities reduced the restriction of COVID-19 virus preventative measures, allowing clinics to start accepting patients following the ministry of health protocols. Objectives: Evaluation of the public's perception and willingness to undergo cosmetic procedures during COVID-19 outbreaks in Saudi Arabia. Materials and methods: A descriptive, cross-sectional, questionnaire-based study was carried out among the individuals who lack typical symptoms of COVID-19 infection in Saudi Arabia. A self-designed web-based questionnaire was developed; content face validity and a pilot study were done. The questionnaire was distributed electronically from the 8th of May until the 31st of May 2020. Results: A total of 656 individuals who lack typical symptoms of COVID-19 infection were included in this analysis. Only 10.5% of participants expressed their will to do cosmetic procedures during the COVID-19 pandemic. More than 90% of the participants believed that the COVID-19 pandemic was either somewhat serious (52.9%) or very serious (38.7%). The willingness to do cosmetic procedures during the COVID-19 pandemic remained unaltered when the price was discounted (p<0.001) and when infection control measures were ensured (p<0.001). Conclusion: The COVID-19 pandemic had a negative impact on the practice of cosmetic dermatology. Fear of transferring the infection to a beloved home member is the main reason to avoid these procedures. Generating well-structured safety guidelines to decrease the risk of this unusual virus transmission in dermatology practice and creating financial incentives may help increase the public willingness to do these cosmetic procedures during this pandemic.

Keywords: COVID-19 pandemic, cosmetic procedures, questionnaire, dermatology

Procedia PDF Downloads 154

Authors: Namugenyi Ephrance Eunice, Julianne Sansa Otim, Marco Zennaro, Stephen D. Wolthusen

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The Internet of Things (IoT) is a network of connected data processing devices, mechanical and digital machinery, items, animals, or people that may send data across a network without requiring human-to-human or human-to-computer interaction. Each component has sensors that can pick up on specific phenomena, as well as processing software and other technologies that can link to and communicate with other systems and/or devices over the Internet or other communication networks and exchange data with them. IoT is increasingly being used in fields other than consumer electronics, such as public safety, emergency response, industrial automation, autonomous vehicles, the Internet of Medical Things (IoMT), and general environmental monitoring. Consumer-based IoT applications, like smart home gadgets and wearables, are also becoming more prevalent. This paper presents the main IoT deployment areas for environmental monitoring in developing regions and the backhaul options suitable for them. A detailed review of each of the list of papers selected for the study is included in section III of this document. The study includes an overview of existing IoT deployments, the underlying communication architectures, protocols, and technologies that support them. This overview shows that Low Power Wireless Area Networks (LPWANs), as summarized in Table 1, are very well suited for monitoring environment architectures designed for remote locations. LoRa technology, particularly the LoRaWAN protocol, has an advantage over other technologies due to its low power consumption, adaptability, and suitable communication range. The prevailing challenges of the different architectures are discussed and summarized in Table 3 of the IV section, where the main problem is the obstruction of communication paths by buildings, trees, hills, etc.

Keywords: communication technologies, environmental monitoring, Internet of Things, IoT deployment challenges

Procedia PDF Downloads 53

Authors: Muhammad Sohail Sajid, Mahvish Maqbool, Hafiz Muhammad Rizwan, Muhammad Saqib, Haroon Ahmad

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Ticks are blood-sucking ectoparasite that causes a decrease in production and economic losses and affects mammals, reptiles, and birds. Hyalomma anatolicum is the main vector for CCHF transmission and Pakistan has faced several outbreaks of CCHF in the recent past. Ferritin (fer)is a highly conserved molecule that is ubiquitous in most tick tissues and responsible for iron metabolism and storage. It was hypothesized that the development of acaricidal resistance and residual effects of commercially used acaricides could be controlled by using alternative control methods, including RNA interference. The current study aimed to evaluate the fer silencing effects on tick feeding, average body weight, egg mass index, and mortality. Ticks, collected through the standard collection protocols were further subjected to RNA isolation using the Trizol method. Commercially available kit procedures were followed for cDNA and dsRNA synthesis. The soaking/Immersion method was used for dsRNA delivery. Our findings have shown a 27% reduction in body weight of fer silenced group and showed a significant association of fer and body weight. Silencing of fer had a significant effect on the engorgement percentage (P= 0.0007), oviposition (P=0.008), egg mass (P= 0.004) and hatching (P= 0.001). The soaking method was used for dsRNA delivery and 15°C was found to be an optimum temperature for inducing gene silencing in ticks as at this temperature, maximum survivability after immersion was attained. This study along with previous studies, described that iron toxicity due to the silencing of fer could play an important role in the control of ticks and fer can be used as a potent candidate for vaccine development.

Keywords: ticks, iron, ferritin, engorgement, oviposition, immersion, RNA interference

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Authors: K. Jankowski, M. Pawlikowski, A. Makuch, K. Skalski

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Depth-sensing indentation (DSI) or nanoindentation is becoming a more and more popular method of measuring mechanical properties of various materials and tissues at a micro-scale. This technique allows measurements without complicated sample preparation procedures which makes this method very useful. As a result of measurement force and displacement of the intender are obtained. It is also possible to determine three measures of hardness i.e. Martens hardness (HM), nanohardness (HIT), Vickers hardness (HV) and Young modulus EIT. In this work trabecular bone mechanical properties were investigated. The bone samples were harvested from human femoral heads during hip replacement surgery. Patients were of different age, sexes and stages of tissue degeneration caused by osteoarthritis. The specimens were divided into three groups. Each group contained samples harvested from patients of different range of age. All samples were investigated with the same measurement conditions. The maximum load was Pmax=500 mN and the loading rate was 500 mN/min. The tests were held without hold at the peak force. The tests were conducted with indenter Vickers tip and spherical tip of the diameter 0.2 mm. Each trabecular bone sample was tested 7 times in a close area of the same trabecula. The measured loading P as a function of indentation depth allowed to obtain hysteresis loop and HM, HIT, HV, EIT. Results for arbitrarily chosen sample are HM=289.95 ± 42.31 MPa, HIT=430.75 ± 45.37 MPa, HV=40.66 ± 4.28 Vickers, EIT=7.37 ± 1.84 GPa for Vickers tip and HM=115.19 ± 15.03 MPa, HIT=165.80 ± 19.30 MPa, HV=16.90 ± 1.97 Vickers, EIT=5.30 ± 1.31 GPa for spherical tip. Results of nanoindentation tests show that this method is very useful and is perfect for obtaining mechanical properties of trabecular bone. Estimated values of elastic modulus are similar. The differences between hardness are significant but it is a result of using two different types of tips. However, it has to be emphasised that the differences in the values of elastic modulus and hardness result from different testing protocols, anisotropy and asymmetry of the micro-samples and the hydration of bone.

Keywords: human bone, mechanical properties, nano hardness nanoindentation, trabecular bone

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Authors: A. Aljohani, D. Burke, D. Clarke, M. Gormally, M. Byrne, G. Fleming

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Introduction: House Dust Mites (HDMs) are a source of allergen particles embedded in textiles and furnishings. Vacuum sampling is commonly used to recover and determine the abundance of HDMs but the efficiency of this method is less than standardized. Here, the efficiency of recovery of HDMs was evaluated from home-associated textiles using vacuum sampling protocols.Methods/Approach: Living Mites (LMs) or dead Mites (DMs) House Dust Mites (Dermatophagoides pteronyssinus: FERA, UK) were separately seeded onto the surfaces of Smooth Cotton, Denim and Fleece (25 mites/10x10cm2 squares) and left for 10 minutes before vacuuming. Fabrics were vacuumed (SKC Flite 2 pump) at a flow rate of 14 L/min for 60, 90 or 120 seconds and the number of mites retained by the filter (0.4μm x 37mm) unit was determined. Vacuuming was carried out in a linear direction (Protocol 1) or in a multidirectional pattern (Protocol 2). Additional fabrics with LMs were also frozen and then thawed, thereby euthanizing live mites (now termed EMs). Results/Findings: While there was significantly greater (p=0.000) recovery of mites (76% greater) in fabrics seeded with DMs than LMs irrespective of vacuuming protocol or fabric type, the efficiency of recovery of DMs (72%-76%) did not vary significantly between fabrics. For fabrics containing EMs, recovery was greatest for Smooth Cotton and Denim (65-73% recovered) and least for Fleece (15% recovered). There was no significant difference (p=0.99) between the recovery of mites across all three mite categories from Smooth Cotton and Denim but significantly fewer (p=0.000) mites were recovered from Fleece. Scanning Electron Microscopy images of HMD-seeded fabrics showed that live mites burrowed deeply into the Fleece weave which reduced their efficiency of recovery by vacuuming. Research Implications: Results presented here have implications for the recovery of HDMs by vacuuming and the choice of fabric to ameliorate HDM-dust sensitization.

Keywords: allergy, asthma, dead, fabric, fleece, live mites, sampling

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Authors: Kourosh Ghaffari, Baghaei Azhang

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This study aims to address two main questions whether a camp designed for refugees will affect their quality of life and how to effectively incorporate ecotech architecture into the architectural design of a refugee camp. The current study planned to ensure that the final design reflects the principles of ecotech architecture in most refugee camps. The design process has taken into account various factors, including flexibility, diversity in the camp space according to the ecotech approach, expandability in the building, spatial hierarchy in the design of camp spaces, and the assignment of territories and space sanctuaries to refugees. It should be noted that this study is not a research-oriented type of study and is only limited to collecting information and making hypotheses and questions related to the plan. The researchers attempted to provide a general summary of similar domestic and foreign examples and examine them in similar conditions using the ecotech architecture. The research method utilized in this study was qualitative. Afterwards, the climate studies of the target area, citing and paying attention to the criteria and points extracted from the theoretical framework, reaching the desired conclusion and examining similar examples were followed. Additionally, placement on the site, compliance with relevant standards and regulations, attention to the content and physical program, and addressing the idea and its evolution in all the details of the plan were presented. The data collection procedure included observation and library studies, and the design method was to determine and recognize the subject and examine similar samples. In conclusion, the principles of theoretical foundations, the design protocols in ecotech architecture and the scope of the study are dealt. Furthermore, the site analysis, the design process and the final plan are presented.

Keywords: ecotech architecture, livable city, shelter, refugee camp

Procedia PDF Downloads 50

Authors: Marzia Bilkiss, Muhammad J. A. Shiddiky, Mostafa K. Masud, Prabhakaran Sambasivam, Ido Bar, Jeremy Brownlie, Rebecca Ford

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A greater achievement in the Integrated Disease Management (IDM) to prevent the loss would result from early diagnosis and quantitation of the causal pathogen species for accurate and timely disease control. This could significantly reduce costs to the growers and reduce any flow on impacts to the environment from excessive chemical spraying. Necrotrophic fungal disease botrytis grey mould, caused by Botrytis cinerea and Botrytis fabae, significantly reduce temperate legume yield and grain quality during favourable environmental condition in Australia and worldwide. Several immunogenic and molecular probe-type protocols have been developed for their diagnosis, but these have varying levels of species-specificity, sensitivity, and consequent usefulness within the paddock. To substantially improve speed, accuracy, and sensitivity, advanced nanoparticle-based biosensor approaches have been developed. For this, two sets of primers were designed for both Botrytis cinerea and Botrytis fabae which have shown the species specificity with initial sensitivity of two genomic copies/µl in pure fungal backgrounds using multiplexed quantitative PCR. During further validation, quantitative PCR detected 100 spores on artificially infected legume leaves. Simultaneously an electro-catalytic assay was developed for both target fungal DNA using functionalised magnetic nanoparticles. This was extremely sensitive, able to detect a single spore within a raw total plant nucleic acid extract background. We believe that the translation of this technology to the field will enable quantitative assessment of pathogen load for future accurate decision support of informed botrytis grey mould management.

Keywords: biosensor, botrytis grey mould, sensitive, species specific

Procedia PDF Downloads 146

Authors: Peter M. Schneider, Batyr Garlyyev, Sebastian A. Watzele, Aliaksandr S. Bandarenka

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Functional nanostructures such as nanoparticles are a promising class of materials for energy applications due to their unique properties. Bottom-up synthetic routes for nanostructured materials often involve multiple synthesis steps and the use of surfactants, reducing agents, or stabilizers. This results in complex and extensive synthesis protocols. In recent years, a novel top-down synthesis approach to form metal nanoparticles has been established, in which bulk metal wires are immersed in an electrolyte (primarily alkali earth metal based) and subsequently subjected to a high alternating potential. This leads to the generation of nanoparticles dispersed in the electrolyte. The main advantage of this facile top-down approach is that there are no reducing agents, surfactants, or precursor solutions. The complete synthesis can be performed in one pot involving one main step with consequent washing and drying of the nanoparticles. More recent studies investigated the effect of synthesis parameters such as potential amplitude, frequency, electrolyte composition, and concentration on the size and shape of the nanoparticles. Here, we investigate the electrochemical erosion of various metal wires such as Ti, Pt, Pd, and Sn in various electrolyte compositions via this facile top-down technique and its experimental optimization to successfully synthesize nanostructured materials for various energy applications. As an example, for Pt and Pd, homogeneously distributed nanoparticles on carbon support can be obtained. These materials can be used as electrocatalyst materials for the oxygen reduction reaction (ORR) and hydrogen evolution reaction (HER), respectively. In comparison, the top-down erosion of Sn wires leads to the formation of nanoparticles, which have great potential as oxygen evolution reaction (OER) support materials. The application of the technique on Ti wires surprisingly leads to the formation of nanowires, which show a high surface area and demonstrate great potential as an alternative support material to carbon.

Keywords: ORR, electrochemistry, electrocatalyst, synthesis

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Authors: Michael Naidoo

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The purpose and functions of higher education institutions in the 21st century are evolving because of rapid changes in the global landscape. To remain germane, higher education institutions are in a period of swift and radical change. The success of these changes is highly dependent on the effective leadership of the institution. Consequently, many higher education institutions have invested time and finances into the management and leadership development of their staff. The development has taken many different forms and focus areas, depending on the societal and institutional needs, as well as available financial resources and infrastructural practices. South Africa has many public and private higher education institutions which are also undergoing significant changes to meet the contextual needs of the country. Many of these institutions have provided management and leadership development programs for their staff. This research aims at exploring the common, critical content, structure and practices of effective management and leadership development programs at higher educational institutions. This research will also examine a specific management development program (MDP) at a South African private higher educational institution. Finally, the research will review how organizational leadership is utilized in management and leadership development programs. The research is underpinned by the paradigm of interpretivism. This is because the aims of the research will be achieved by the collection of qualitative data. The qualitative data will be gathered through individual semi-structured interviews with the facilitators of the MDP program and some of the MDP candidates. The validity of the findings will be increased by the triangulation of data from both sets of interviews. An embedded, single case study design will be used. All ethical protocols will be followed throughout the research. The findings of the research should reveal more information about the key elements that should be incorporated into management and leadership development programs. These include crucial content, structure and practices. The research should also reveal how organizational leadership can be successfully incorporated into the programs. This research can then be used by higher educational institutions to strengthen their management and leadership development programs.

Keywords: managment, leadership, development, organizational leadership

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Authors: Oluyomi Stephen Adeyemi, Kentaro Kato

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Toxoplasma gondii is the etiological agent of toxoplasmosis, a common parasitic disease capable of infecting a range of hosts, including nearly one-third of the human population. Current treatment options for toxoplasmosis patients are limited. In consequence, toxoplasmosis represents a large global burden that is further enhanced by the shortcomings of the current therapeutic options. These factors underscore the need for better anti-T. gondii agents and/or new treatment approach. In the present study, we sought to find out whether preparing and capping nanoparticles (NPs) in amino acids, would enhance specificity toward the parasite versus the host cell. The selection of amino acids was premised on the fact that T. gondii is auxotrophic for some amino acids. The amino acid-nanoparticles (amino-NPs) were synthesized, purified and characterized following established protocols. Next, we tested to determine the anti-T. gondii activity of the amino-NPs using in vitro experimental model of infection. Overall, our data show evidence that supports enhanced and excellent selective action against the parasite versus the host cells by amino-NPs. The findings are promising and provide additional support that warrants exploring the prospects of NPs as alternative anti-parasite agents. In addition, the anti-parasite action by amino-NPs indicates that nutritional requirement of parasite may represent a viable target in the development of better alternative anti-parasite agents. Furthermore, data suggest the anti-parasite mechanism of the amino-NPs involves multiple cellular processes including the production of reactive oxygen species (ROS), modulation of hypoxia-inducing factor-1 alpha (HIF-1α) as well as the activation of kynurenine pathway. Taken together, findings highlight further, the prospects of NPs as alternative source of anti-parasite agents.

Keywords: drug discovery, infectious diseases, mode of action, nanomedicine

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Authors: Hermalina Sinay, Estri L. Arumingtyas

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The research objective was to determine the expression level of dehydration responsive element binding/DREB gene of local corn cultivars from Kisar Island Maluku. The study design was a randomized block design with single factor consist of six local corn cultivars obtained from farmers in Kisar Island and one reference varieties wich has been released by the government as a drought-tolerant varieties and obtained from Cereal Crops Research Institute (ICERI) Maros South Sulawesi. Leaf samples were taken is the second leaf after the flag leaf at the 65 days after planting. Isolation of total RNA from leaf samples was carried out according to the protocols of the R & A-BlueTM Total RNA Extraction Kit and was used as a template for cDNA synthesis. The making of cDNA from total RNA was carried out according to the protocol of One-Step Reverse Transcriptase PCR Premix Kit. Real Time-PCR was performed on cDNA from reverse transcription followed the procedures of Real MODTM Green Real-Time PCR Master Mix Kit. Data obtained from the real time-PCR results were analyzed using relative quantification method based on the critical point / Cycle Threshold (CP / CT). The results of gene expression analysis of DREB gene showed that the expression level of the gene was highest obtained at Deep Yellow local corn cultivar, and the lowest one was obtained at the Rubby Brown Cob cultivar. It can be concluded that the expression level of DREB gene of Deep Yellow local corn cultivar was highest than other local corn cultivars and Srikandi variety as a reference variety.

Keywords: expression, level, DREB gene, local corn cultivars, Kisar Island, Maluku

Procedia PDF Downloads 276

Authors: Meng-Jie Hsiao, Cam Nguyen

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Wide-band devices in Ku band (12-18 GHz) and K band (18-27 GHz) have received significant attention for high-data-rate communications and high-resolution sensing. Especially, devices operating around 24 GHz is attractive due to the 24-GHz unlicensed applications. One of the most important components in RF systems is power amplifier (PA). Various PAs have been developed in the Ku and K bands on GaAs, InP, and silicon (Si) processes. Although the PAs using GaAs or InP process could have better power handling and efficiency than those realized on Si, it is very hard to integrate the entire system on the same substrate for GaAs or InP. Si, on the other hand, facilitates single-chip systems. Hence, good PAs on Si substrate are desirable. Especially, Si-based PA having good linearity is necessary for next generation communication protocols implemented on Si. We report a 16.5 to 25.5 GHz Si-based PA having flat saturated power of 19.5 ± 1.5 dBm, output 1-dB power compression (OP1dB) of 16.5 ± 1.5 dBm, and 15-23 % power added efficiency (PAE). The PA consists of a drive amplifier, two main amplifiers, and lump-element Wilkinson power divider and combiner designed and fabricated in TowerJazz 0.18µm SiGe BiCMOS process having unity power gain frequency (fMAX) of more than 250 GHz. The PA is realized as a cascode amplifier implementing both heterojunction bipolar transistor (HBT) and n-channel metal–oxide–semiconductor field-effect transistor (NMOS) devices for gain, frequency response, and linearity consideration. Particularly, a body-floating technique is utilized for the NMOS devices to improve the voltage swing and eliminate parasitic capacitances. The developed PA has measured flat gain of 20 ± 1.5 dB across 16.5-25.5 GHz. At 24 GHz, the saturated power, OP1dB, and maximum PAE are 20.8 dBm, 18.1 dBm, and 23%, respectively. Its high performance makes it attractive for use in Ku/K-band, especially 24 GHz, communication and radar systems. This paper was made possible by NPRP grant # 6-241-2-102 from the Qatar National Research Fund (a member of Qatar Foundation). The statements made herein are solely the responsibility of the authors.

Keywords: power amplifiers, amplifiers, communication systems, radar systems

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Authors: Farahnaz Karami

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Routing is an important, challenging task in mobile ad hoc networks due to node mobility, lack of central control, unstable links, and limited resources. An ant colony has been found to be an attractive technique for routing in Mobile Ad Hoc Networks (MANETs). However, existing swarm intelligence based routing protocols find an optimal path by considering only one or two route selection metrics without considering correlations among such parameters making them unsuitable lonely for routing real time applications. Fuzzy logic combines multiple route selection parameters containing uncertain information or imprecise data in nature, but does not have multipath routing property naturally in order to provide load balancing. The objective of this paper is to design a routing algorithm using fuzzy logic and ant colony that can solve some of routing problems in mobile ad hoc networks, such as nodes energy consumption optimization to increase network lifetime, link failures rate reduction to increase packet delivery reliability and providing load balancing to optimize available bandwidth. In proposed algorithm, the path information will be given to fuzzy inference system by ants. Based on the available path information and considering the parameters required for quality of service (QoS), the fuzzy cost of each path is calculated and the optimal paths will be selected. NS2.35 simulation tools are used for simulation and the results are compared and evaluated with the newest QoS based algorithms in MANETs according to packet delivery ratio, end-to-end delay and routing overhead ratio criterions. The simulation results show significant improvement in the performance of these networks in terms of decreasing end-to-end delay, and routing overhead ratio, and also increasing packet delivery ratio.

Keywords: mobile ad hoc networks, routing, quality of service, ant colony, fuzzy logic

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Authors: S. Fahiminiya, J. Nadaf, F. Rauch, L. Jerome-Majewska, J. Majewski

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Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation.

Keywords: whole exome sequencing data, non-coding variants, copy number variations, rare diseases

Procedia PDF Downloads 389