Search results for: peace studies

Authors: Mohammad Alkhatatbeh, Nehad Ayoub, Nizar Mhaidat, Nesreen Saadeh, Lisa Lincz

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CD36 is involved in the development of atherosclerosis by enhancing macrophage endocytosis of oxidized-low density lipoproteins and foam cell formation. Soluble CD36 (sCD36) was found to be elevated in type 2 diabetic patients and was supposed to act as a marker of insulin resistance and atherosclerosis. In young subjects, sCD36 was associated with cardiovascular risk factors including obesity and hypertriglyceridemia. This study was conducted to further investigate the relationship between plasma sCD36 and cardiovascular risk factors among middle-aged patients with metabolic syndrome (MetS) and healthy controls. SCD36 concentrations were determined by enzyme-linked immunosorbent assays (ELISA) for 41 patients with MetS and 36 healthy controls. Data for other variables were obtained from patients' medical records. SCD36 concentrations were relatively low compared to most other studies and were not significantly different between the MetS group and controls (P-value=0.17). SCD36 was also not correlated with age, body mass index, glucose, lipid profile, serum electrolytes and blood counts. SCD36 was not significantly different between subjects with obesity, hyperglycemia, dyslipidemia, hypertension or cardiovascular disease and those without these abnormalities (P-value > 0.05). The inconsistency between results reported in this study and other studies may be unique to the study population or be a result of the lack of a reliable standardized method for determining absolute sCD36 concentrations. However, further investigations are required to assess CD36 tissue expression in the study population and to assess the accuracy of various commercially available sCD36 ELISA kits. Thus, the availability of a standardized simple sCD36 ELISA that could be performed in any basic laboratory would be more favorable to the specialized flow cytometry methods that detect CD36+ microparticles if it was to be used as a biomarker.

Keywords: metabolic syndrome, CD36, cardiovascular risk, obesity, type 2 diabetes mellitus

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Authors: Palak J. Shukla, Atul K. Desai, Chentankumar D. Modhera

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For any country in the world, it has become a priority to protect the critical infrastructure from looming risks of terrorism. In any infrastructure system, the structural elements like lower floors, exterior columns, walls etc. are key elements which are the most susceptible to damage due to blast load. The present study revisits the state of art review of the design and analysis of reinforced concrete panels subjected to blast loading. Various aspects in association with blast loading on structure, i.e. estimation of blast load, experimental works carried out previously, the numerical simulation tools, various material models, etc. are considered for exploring the current practices adopted worldwide. Discussion on various parametric studies to investigate the effect of reinforcement ratios, thickness of slab, different charge weight and standoff distance is also made. It was observed that for the simulation of blast load, CONWEP blast function or equivalent numerical equations were successfully employed by many researchers. The study of literature indicates that the researches were carried out using experimental works and numerical simulation using well known generalized finite element methods, i.e. LS-DYNA, ABAQUS, AUTODYN. Many researchers recommended to use concrete damage model to represent concrete and plastic kinematic material model to represent steel under action of blast loads for most of the numerical simulations. Most of the studies reveal that the increase reinforcement ratio, thickness of slab, standoff distance was resulted in better blast resistance performance of reinforced concrete panel. The study summarizes the various research results and appends the present state of knowledge for the structures exposed to blast loading.

Keywords: blast phenomenon, experimental methods, material models, numerical methods

Procedia PDF Downloads 157

Authors: Mohammed Ghazwani, Shyma Ali Alshahrani, Zahra Abdu Yousef, Taif Torki Asiri, Ghofran Abdur Rahman, Asma Ali Alshahrani, Umme Hani

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Background and introduction: Piroxicam is a nonsteroidal anti-inflammatory drug characterized by low solubility-high permeability used to reduce pain, swelling, and joint stiffness from arthritis. Hydrotropes are a class of compounds that normally increase the aqueous solubility of insoluble solutes. Aim: The objective of the present research study was to formulate and optimize Piroxicam hydrotropic starch gel using sodium salicylate, sodium benzoate as hydrotropic salts, and potato starch for topical application. Materials and methods: The prepared Piroxicam hydrotropic starch gel was characterized for various physicochemical parameters like drug content estimation, pH, tube extrudability, and spreadability; all the prepared formulations were subjected to in-vitro diffusion studies for six hours in 100 ml phosphate buffer (pH 7.4) and determined gel strength. Results: All formulations were found to be white opaque in appearance and have good homogeneity. The pH of formulations was found to be between 6.9-7.9. Drug content ranged from 96.8%-99.4.5%. Spreadability plays an important role in patient compliance and helps in the uniform application of gel to the skin as gels should spread easily; F4 showed a spreadability of 2.4cm highest among all other formulations. In in vitro diffusion studies, extrudability and gel strength were good with F4 in comparison with other formulations; hence F4 was selected as the optimized formulation. Conclusion: Isolated potato starch was successfully employed to prepare the gel. Hydrotropic salt sodium salicylate increased the solubility of Piroxicam and resulted in a stable gel, whereas the gel prepared using sodium benzoate changed its color after one week of preparation from white to light yellowish. Hydrotropic potato starch gel proposed a suitable vehicle for the topical delivery of Piroxicam.

Keywords: Piroxicam, potato starch, hydrotropic salts, hydrotropic starch gel

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Authors: Velly Anatasia

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In the last few decades extensive research has been conducted into information technology (IT) adoption, testing a series of factors considered to be essential for improved diffusion. Some studies analyze IT characteristics such as usefulness, ease of use and/or security, others focus on the emotions and experiences of users and a third group attempts to determine the importance of socioeconomic user characteristics such as gender, educational level and income. The situation is similar regarding e-commerce, where the majority of studies have taken for granted the importance of including these variables when studying e-commerce adoption, as these were believed to explain or forecast who buys or who will buy on the internet. Nowadays, the internet has become a marketplace suitable for all ages and incomes and both genders and thus the prejudices linked to the advisability of selling certain products should be revised. The objective of this study is to test whether the socioeconomic characteristics of experienced e-shoppers such as gender rally moderate the effect of their perceptions of online shopping behavior. Current development of the online environment and the experience acquired by individuals from previous e-purchases can attenuate or even nullify the effect of these characteristics. The individuals analyzed are experienced e-shoppers i.e. individuals who often make purchases on the internet. The Technology Acceptance Model (TAM) was broadened to include previous use of the internet and perceived self-efficacy. The perceptions and behavior of e-shoppers are based on their own experiences. The information obtained will be tested using questionnaires which were distributed and self-administered to respondent accustomed using internet. The causal model is estimated using structural equation modeling techniques (SEM), followed by tests of the moderating effect of socioeconomic variables on perceptions and online shopping behavior. The expected findings of this study indicated that gender moderate neither the influence of previous use of the internet nor the perceptions of e-commerce. In short, they do not condition the behavior of the experienced e-shopper.

Keywords: Internet shopping, age groups, gender, income, electronic commerce

Procedia PDF Downloads 337

Authors: Abdulfattah A. Q. Alwah, Amal Al‑Attar, Sumyah M. Al-Fanini, Ellen Fetzer

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Cultural landscapes enhance the spiritual relationship between people and their environment. They represent civilized evidence of peoples' interaction with nature and the exploitation of its resources to build their civilization. Yemeni urban and rural environments are rich in many cultural landscape elements that reflect the ingenuity of Yemeni people in interacting with nature. Yemen's mountain cities and villages appear in harmony with mountains, with vertical tower building patterns, local building materials, and unique architectural and urban elements and features. Such cities and villages are still full of life today, such as the cities of Taiz, Ibb, Lahj, and historical Jableh and hundreds of mountain villages in the provinces of the mountainous highlands. The cultivated mountain terraces reflect the ability of Yemenis to create arable areas in the tall mountains and to use successful means of irrigation and rainwater drainage. Unfortunately, there is a severe shortage of research studies that discuss the cultural landscapes in Yemen and the mechanisms for their preservation. Therefore, this study aimed to shed light on the types of mountain cultural landscapes in Yemen and discuss the means of their preservation. The study achieved its objectives through a theoretical review of available studies and field visits to some sites in Ibb, Jableh, and Taiz cities. The study highlighted the human contribution to these sites and elements and showed the Yemenis’ skills in adapting to nature and benefiting from it ideally. This study can guide the competent authorities to assess, develop, and protect cultural landscape sites in Yemen.

Keywords: civilization, urban environment, Yemeni mountain architecture, human heritage conservation, cultural identity

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Authors: Wen Hsin Hsu, Pin Lin

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Objective: Thirst discomfort is the most common yet often overlooked symptom in patients in the intensive care unit (ICU), with an incidence rate of 69.8%. If not properly cared for, it can easily lead to irritability, affect sleep quality, and increase the incidence of delirium, thereby extending the length of hospital stay. Research points out that the sensation of coldness is an effective strategy to alleviate thirst. Using a combined care approach for thirst can prolong the sensation of coldness in the mouth and reduce thirst discomfort. Therefore, it needs to be further analyzed and its effectiveness reviewed. Methods: This study uses systematic literature review and meta-analysis methodologies and searched databases including PubMed, MEDLINE, EMBASE, Cochrane, CINAHL, and two Chinese databases (CEPS and CJTD) based on keywords. JBI was used to appraise the quality of the literature. RevMen 5.4 software package was used, and Fix Effect Model was applied for data analysis. We selected experimental articles, including those in English and Chinese, that met the inclusion and exclusion criteria. Three research articles were included in total, with a sample size of 416 people. Two were randomized controlled trials, and one was a quasi-experimental design. Results: The results show that the combined care for thirst, which includes ice water spray or oral swab wipes, menthol mouthwash, and lip balm, can significantly relieve thirst intensity MD=-1.36 (3 studies, 95% CI (-1.77, -0.95), p <0.001) and thirst distress MD=-0.71 (2 studies, 95% CI (-1.32, -0.10), p =0.02). Therefore, it is recommended that medical staff identify high-risk groups for thirst early on. Implications for Practice: For patients who cannot eat orally, providing combined care for thirst can increase oral comfort and improve the quality of care.

Keywords: thirst bundle care, intensive care units, meta-analysis, ice water spray, menthol

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Authors: Ali Khoshraftar, S. A. Hashemi

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This paper is focused on the advantages of Viscoelastic Dampers (VED) to be used as energy-absorbing devices in buildings. The properties of VED are briefly described. The analytical studies of the model structures exhibiting the structural response reduction due to these viscoelastic devices are presented. Computer simulation of the damped response of a multi-storey steel frame structure shows significant reduction in floor displacement levels.

Keywords: dampers, seismic evaluation, steel frames, viscoelastic

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Authors: Said Ghalem

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Honey is primarily composed of sugars: glucose and fructose. Depending honey, it's either fructose or glucose predominates. More the fructose concentration and the less the glycemic index (GI) is high. Thus, changes in the insulin response shows a decrease of the amount of insulin secreted at an increased fructose honey. Honey is also a compound that can reduce the lipid in the blood. Several studies on animals, but which remain to be checked in humans, have shown that the honey can have interesting effects when combined with other molecules: associated with Metformin (a medicine taken by diabetics), it shows the benefits and effects of diabetes preserves the tissue; associated ginger, it increases the antioxidant activity and thus avoids neurologic complications, neuropathic. Molecular modeling techniques are widely used in chemistry, biology, and the pharmaceutical industry. Most of the currently existing drugs target enzymes. Inhibition of DPP-4 is an important approach in the treatment of type 2 diabetes. We have chosen for the inhibition of DPP-4 the following molecules: Linagliptin (BI1356), Sitagliptin (Januvia), Vildagliptin, Saxagliptin, Alogliptin, and Metformin (Glucophage), that are involved in the disease management of type 2 diabetes and added to honey. For this, we used software Molecular Operating Environment. A Wistar rat study was initiated in our laboratory with a well-studied protocol; after sacrifice, according to international standards and respect for the animal This theoretical approach predicts the mode of interaction of a ligand with its target. The honey can have interesting effects when combined with other molecules, it shows the benefits and effects of honey preserves the tissue, it increases the antioxidant activity, and thus avoids neurologic complications, neuropathic or macrovascular. The organs, especially the kidneys of Wistar, shows that the parameters to renal function let us conclude that damages caused by diabetes are slightly perceptible than those observed without the addition of a high concentration of fructose honey.

Keywords: honey, molecular modeling, DPP4 enzyme, metformin

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Authors: Ting Shen, Spyros Konstantopoulos

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During the past three decades, class size effects have been a focal debate in education. The idea of having smaller class is enormously popular among parents, teachers and policy makers. The rationale of its popularity is that small classroom could provide a better learning environment in which there would be more teacher-pupil interaction and more individualized instruction. This early stage benefits would also have a long-term positive effect. It is a common belief that reducing class size may result in increases in student achievement. However, the empirical evidence about class-size effects from experimental or quasi-experimental studies has been mixed overall. This study sheds more light on whether class size reduction impacts reading achievement in eight European countries: Bulgaria, Germany, Hungary, Italy, Lithuania, Romania, Slovakia, and Slovenia. We examine class size effects on reading achievement using national probability samples of fourth graders. All eight European countries had participated in the Progress in International Reading Literacy Study (PIRLS) in 2001, 2006 and 2011. Methodologically, the quasi-experimental method of instrumental variables (IV) has been utilized to facilitate causal inference of class size effects. Overall, the results indicate that class size effects on reading achievement are not significant across countries and years. However, class size effects are evident in Romania where reducing class size increases reading achievement. In contrast, in Germany, increasing class size seems to increase reading achievement. In future work, it would be valuable to evaluate differential class size effects for minority or economically disadvantaged student groups or low- and high-achievers. Replication studies with different samples and in various settings would also be informative. Future research should continue examining class size effects in different age groups and countries using rich international databases.

Keywords: class size, reading achievement, instrumental variables, PIRLS

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Authors: Beenish Saba, Ann D. Christy

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Modern day municipal solid waste landfills are operated and controlled to protect the environment from contaminants during the biological stabilization and degradation of the solid waste. They are equipped with liners, caps, gas and leachate collection systems. Landfill gas is passively or actively collected and can be used as bio fuel after necessary purification, but leachate treatment is the more difficult challenge. Leachate, if not recirculated in a bioreactor landfill system, is typically transported to a local wastewater treatment plant for treatment. These plants are designed for sewage treatment, and often charge additional fees for higher strength wastewaters such as leachate if they accept them at all. Different biological, chemical, physical and integrated techniques can be used to treat the leachate. Treating that leachate with simultaneous power production using microbial fuel cells (MFC) technology has been a recent innovation, reported its application in its earliest starting phase. High chemical oxygen demand (COD), ionic strength and salt concentration are some of the characteristics which make leachate an excellent substrate for power production in MFCs. Different materials of electrodes, microbial communities, carbon co-substrates and temperature conditions are some factors that can be optimized to achieve simultaneous power production and treatment. The advantage of the MFC is its dual functionality but lower power production and high costs are the hurdles in its commercialization and more widespread application. The studies so far suggest that landfill leachate MFCs can produce 1.8 mW/m2 with 79% COD removal, while amendment with food leachate or domestic wastewater can increase performance up to 18W/m3 with 90% COD removal. The columbic efficiency is reported to vary between 2-60%. However efforts towards biofilm optimization, efficient electron transport system studies and use of genetic tools can increase the efficiency of the MFC and can determine its future potential in treating landfill leachate.

Keywords: microbial fuel cell, landfill leachate, power generation, MFC

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Authors: Akshada Amit Koparde, Candrakant S. Magdum

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Objective: To investigate the anti-arthritic activity of chloroform extract and Isolate 1 of Eulophia ochreata Lindl and dichloromethane extract and Isolate 2 of Zingiber cassumunar Roxb in adjuvant arthritic (AA) rat model induced by Freund’s complete adjuvant (FCA). Methods: Forty two healthy albino rats were selected and randomly divided into six groups. Freund’s complete adjuvant (FCA) was used to induce arthritis and then treated with chloroform extract, isolate 1 and dichloromethane extract, isolate 2 for 28 days. The various parameters like paw volume, haematological parameters (RBC, WBC, Hb and ESR), were studied. Structural elucidation of active constituents isolate 1 and isolate 2 from Eulophia ochreata Lindl and Zingiber cassumunar Roxb will be done using GCMS and H1NMR. Results: In FCA induced arthritic rats, there was significant increase in rat paw volume whereas chloroform extract and Isolate 1 of Eulophia ochreata Lindl and dichloromethane extract and Isolate 2 of Zingiber cassumunar Roxb treated groups showed strong significant reduction in paw volume. The altered haematological parameters in the arthritic rats were significantly recovered to near normal by the treatment with extracts at the dose of 200 mg/kg. Further histopathological studies revealed the anti-arthritic activity of Eulophia ochreata Lindl and Zingiber cassumunar Roxb by preventing cartilage and bone destruction of the arthritic joints of AA rats. Conclusion: Extracts and isolates of Eulophia ochreata Lindl and Zingiber cassumunar Roxb have shown anti-arthritic activity. Decrease in paw volume and normalization of haematological abnormalities in adjuvant induced arthritic rats is significantly seen in the experiment. Further histopathological studies confirmed the anti-arthritic activity of Eulophia ochreata Lindl and Zingiber cassumunar Roxb.

Keywords: arthritis, Eulophia ochreata Lindl, Freund's complete adjuvant, paw volume, Zingiber cassumunar Roxb

Procedia PDF Downloads 176

Authors: Hyuk-Jin Lee

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Even though 23 years have passed in the 21st century, nation-state and nationality-centered cultural identities are still the sentiments and ideologies that dominate the world. Nevertheless, as seen in many cases in Europe, a new perspective is needed to recognize mutual exchanges and influences and to view them as natural cultural exchanges between countries. The situation in East Asia is completely different from Europe. This is presumed to be from the long tradition of having an ethnocentric state concept for at least hundreds of years, quite different from Europe, where the concept of a nation-state was established relatively recently. In other words, unlike Europe, where active exchanges took place, the problem stems from the unique characteristics of East Asia, which has a strong tradition of finding its identity in 'difference'. Thus, it would not be hard to find cultural studies or news of the three East Asian countries emphasizing differences among one another. This applies to all cultural areas, including traditional architecture. For example, in the Korean traditional architecture field, buildings with effects from neighboring countries tend to be ignored, even if they are traditional Korean architecture. In addition to this, in the case of Korea, there seems to be one more cultural harmful aftereffect caused by the 36 years of Japanese colonial rule in the early 20th century; the obsessive filtering concept of 'it must be different from Japan'. In other words, the implicit ideological coercion that the definition of 'Korean cultural heritage' should not be influenced by exchanges with Japan may be found throughout Korean studies. The architectural and cultural aspects of the vast period of time, from the Three Kingdoms era to the beginning of Joseon, which was a period in which cultural influence exchanges with neighboring countries were relatively strong compared to the late Joseon Dynasty, also reflect the 'distorted filtering' caused by finding a repulsive identity against the Japanese colonial period. It is important to look the cultural heritage and traditions as they are inductively, not deductively. If not, we may often ignore or limit our own precious cultural heritage. Conversely, If Baekje, the ancient Korean Kingdom, helped Japan in construction and craftsmen played a big role in building the ancient temple, it would be a healthier perspective to view it as a cultural exchange rather than proudly seeing it as a cultural owner's perspective because this point of view is a proper reconstruction of our ancient and medieval Asian culture (strictly speaking, the color common to East Asia at the time). In particular, this study will examine this topic by giving specific examples from each field of Korean cultural studies. In the search for cultural identity, it would be more helpful for healthy relations between countries and collaborative research in the sensitive part of the interpretation of historical facts as well as cultural circles to minimize excessive meanings on originality and difference.

Keywords: cultural heritage identity, cultural ideology, East Asia, Korea

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Authors: Daria Pashneva, Julija Pauraite, Agne Minderyte, Vadimas Dudoitis, Lina Davuliene, Kristina Plauskaite, Inga Garbariene, Steigvile Bycenkiene

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Black carbon (BC) has received particular attention around the world, not only for its impact on regional and global climate change but also for its impact on air quality and public health. In order to study the relationship between indoor and outdoor BC concentrations, studies were carried out in Vilnius, Lithuania. The studies are aimed at determining the relationship of concentrations, identifying dependencies during the day and week with a further opportunity to analyze the key factors affecting the indoor concentration of BC. In this context, indoor and outdoor continuous real-time measurements of optical BC-related light absorption by aerosol particles were carried out during the cold season (from October to December 2020). The measurement venue was an office located in an urban background environment. Equivalent black carbon (eBC) mass concentration was measured by an Aethalometer (Magee Scientific, model AE-31). The optical transmission of carbonaceous aerosol particles was measured sequentially at seven wavelengths (λ= 370, 470, 520, 590, 660, 880, and 950 nm), where the eBC mass concentration was derived from the light absorption coefficient (σab) at 880 nm wavelength. The diurnal indoor eBC mass concentration was found to vary in the range from 0.02 to 0.08 µgm⁻³, while the outdoor eBC mass concentration - from 0.34 to 0.99 µgm⁻³. Diurnal variations of eBC mass concentration outdoor vs. indoor showed an increased contribution during 10:00 and 12:00 AM (GMT+2), with the highest indoor eBC mass concentration of 0.14µgm⁻³. An indoor/outdoor eBC ratio (I/O) was below one throughout the entire measurement period. The weekend levels of eBC mass concentration were lower than in weekdays for indoor and outdoor for 33% and 28% respectively. Hourly mean mass concentrations of eBC for weekdays and weekends show diurnal cycles, which could be explained by the periodicity of traffic intensity and heating activities. The results show a moderate influence of outdoor eBC emissions on the indoor eBC level.

Keywords: black carbon, climate change, indoor air quality, I/O ratio

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Authors: Dina Ahmad Alkhodary

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This study aimed to investigate the practices of Data Mining on the telecommunication companies in Jordan, from the viewpoint of the respondents. In order to achieve the goal of the study, and test the validity of hypotheses, the researcher has designed a questionnaire to collect data from managers and staff members from main department in the researched companies. The results shows improvements stages of the telecommunications companies towered Data Mining.

Keywords: data, mining, development, business

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Authors: Antonio Martín-Pardo

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With regard to the context in which this paper is inserted, it is noteworthy that the current criminal policy model in which we find immersed, denominated by some doctrine sector as the citizen security model, is characterized by a marked tendency towards the discredit of expert knowledge. This type of technic knowledge has been displaced by the common sense and by the daily experience of the people at the time of legislative drafting, as well as by excessive attention to the short-term political effects of the law. Despite this criminal-political adverse scene, we still find valuable efforts in the side of experts to bring some rationality to the legislative development. This is the case of the proposal for a new cannabis regulation model in Spain carried out by the Cannabis Policy Studies Group (hereinafter referred as ‘GEPCA’). The GEPCA is a multidisciplinary group composed by authors with multiple/different orientations, trajectories and interests, but with a common minimum objective: the conviction that the current situation regarding cannabis is unsustainable and, that a rational legislative solution must be given to the growing social pressure for the regulation of their consumption and production. This paper details the main lines through which this technical proposal is developed with the purpose of its dissemination and discussion in the Congress. The basic methodology of the proposal is inductive-expository. In that way, firstly, we will offer a brief, but solid contextualization of the situation of cannabis in Spain. This contextualization will touch on issues such as the national regulatory situation and its relationship with the international context; the criminal, judicial and penitentiary impact of the offer and consumption of cannabis, or the therapeutic use of the substance, among others. In second place, we will get down to the business properly by detailing the minutia of the three main cannabis access channels that are proposed. Namely: the regulated market, the associations of cannabis users and personal self-cultivation. In each of these options, especially in the first two, special attention will be paid to both, the production and processing of the substance and the necessary administrative control of the activity. Finally, in a third block, some notes will be given on a series of subjects that surround the different access options just mentioned above and that give fullness and coherence to the proposal outlined. Among those related issues we find some such as consumption and tenure of the substance; the issue of advertising and promotion of cannabis; consumption in areas of special risk (work or driving v. g.); the tax regime; the need to articulate evaluation instruments for the entire process; etc. The main conclusion drawn from the analysis of the proposal is the unsustainability of the current repressive system, clearly unsuccessful, and the need to develop new access routes to cannabis that guarantee both public health and the rights of people who have freely chosen to consume it.

Keywords: cannabis regulation proposal, cannabis policies studies group, criminal policy, expertise participation

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Authors: Diego Alejandro Espíndola-Fernández, Ana María Posada-Cano, Dagnóvar Aristizábal-Ocampo, Jaime Alberto Gallo-Villegas

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Background: With the increase in life expectancy, aging has been subject of frequent research, and therefore multiple strategies have been proposed to quantify the advance of the years based on the known physiology of human senescence. For several decades, attempts have been made to characterize these changes through the concept of biological age, which aims to integrate, in a measure of time, structural or functional variation through biomarkers in comparison with simple chronological age. The objective of this scoping review is to deepen the updated concept of measuring biological age composed of biomarkers in the general population and to summarize recent evidence to identify gaps and priorities for future research. Methods: A scoping review was conducted according to the five-phase methodology developed by Arksey and O'Malley through a search of five bibliographic databases to February 2021. Original articles were included with no time or language limit that described the biological age composed of at least two biomarkers in those over 18 years of age. Results: 674 articles were identified, of which 105 were evaluated for eligibility and 65 were included with information on the measurement of biological age composed of biomarkers. Articles from 1974 of 15 nationalities were found, most observational studies, in which clinical or paraclinical biomarkers were used, and 11 different methods described for the calculation of the composite biological age were informed. The outcomes reported were the relationship with the same measured biomarkers, specified risk factors, comorbidities, physical or cognitive functionality, and mortality. Conclusions: The concept of biological age composed of biomarkers has evolved since the 1970s and multiple methods of its quantification have been described through the combination of different clinical and paraclinical variables from observational studies. Future research should consider the population characteristics, and the choice of biomarkers against the proposed outcomes to improve the understanding of aging variables to direct effective strategies for a proper approach.

Keywords: biological age, biological aging, aging, senescence, biomarker

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Authors: Ahmed Shaboub, Yusuf Jasim Althawadi, Shadi Alaa Abdelaal, Mohamed Hussein Abdalla, Hatem Amr Elzahaby, Mohamed Mohamed, Hazem S. Ghaith, Ahmed Negida

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Objectives: We aimed to compare the safety and outcomes of the minimally invasive approaches versus conventional sternotomy procedures for aortic valve replacement. Methods: We conducted a PRISMA-compliant systematic review and meta-analysis. We ran an electronic search of PubMed, Cochrane CENTRAL, Scopus, and Web of Science to identify the relevant published studies. Data were extracted and pooled as standardized mean difference (SMD) or risk ratio (RR) using StataMP version 17 for macOS. Results: Forty-one studies with a total of 15,065 patients were included in this meta-analysis (minimally invasive approaches n=7231 vs. conventional sternotomy n=7834). The pooled effect size showed that minimally invasive approaches had lower mortality rate (RR 0.76, 95%CI [0.59 to 0.99]), intensive care unit and hospital stays (SMD -0.16 and -0.31, respectively), ventilation time (SMD -0.26, 95%CI [-0.38 to -0.15]), 24-h chest tube drainage (SMD -1.03, 95%CI [-1.53 to -0.53]), RBCs transfusion (RR 0.81, 95%CI [0.70 to 0.93]), wound infection (RR 0.66, 95%CI [0.47 to 0.92]) and acute renal failure (RR 0.65, 95%CI [0.46 to 0.93]). However, minimally invasive approaches had longer operative time, cross-clamp, and bypass times (SMD 0.47, 95%CI [0.22 to 0.72], SMD 0.27, 95%CI [0.07 to 0.48], and SMD 0.37, 95%CI [0.20 to 0.45], respectively). There were no differences between the two groups in blood loss, endocarditis, cardiac tamponade, stroke, arrhythmias, pneumonia, pneumothorax, bleeding reoperation, tracheostomy, hemodialysis, or myocardial infarction (all P>0.05). Conclusion: Current evidence showed higher safety and better operative outcomes with minimally invasive aortic valve replacement compared to the conventional approach. Future RCTs with long-term follow-ups are recommended.

Keywords: aortic replacement, minimally invasive, sternotomy, mini-sternotomy, aortic valve, meta analysis

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Authors: Haiming Wen

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Grain growth is an important and consequential phenomenon that generally occurs in the presence of thermal and/or stress/strain fields. Thermally activated grain growth has been extensively studied and similarly, there are numerous experimental and theoretical studies published describing stress-induced grain growth in single-phase materials. However, studies on grain growth during the simultaneous presence of an elevated temperature and an external stress are very limited, and moreover, grain growth phenomena in materials containing second-phase particles and solute segregation at GBs have received limited attention. This lecture reports on a study of grain growth in the presence of second-phase particles and solute/impurity segregation at grain boundaries (GBs) during high-temperature deformation of an ultra-fine grained (UFG) Al alloy synthesized via consolidation of mechanically milled powders. The mechanisms underlying the grain growth were identified as GB migration and grain rotation, which were accompanied by dynamic recovery and geometric dynamic recrystallization, while discontinuous dynamic recrystallization was not operative. A theoretical framework that incorporates the influence of second-phase particles and solute/impurity segregation at GBs on grain growth in presence of both elevated temperature and external stress is formulated and discussed. The effect of second-phase particles and solute/impurity segregation at GBs on GB migration and grain rotation was quantified using the proposed theoretical framework, indicating that both second-phase particles and solutes/impurities segregated GBs reduce the velocities of GB migration and grain rotation as compared to those in commercially pure Al. Our results suggest that grain growth predicted by the proposed theoretical framework is in agreement with experimental results. Hence, the developed theoretical framework can be applied to quantify grain growth in simultaneous presence of external stress, elevated temperature, GB segregation and second-phase particles, or in presence of one or more of the aforementioned factors.

Keywords: nanocrystalline materials, ultra-fine grained materials, grain growth, grain boundary migration, grain rotation

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Authors: Zinhle Cindi, Collet Dandara, Mpiko Ntsekhe, Edson Makambwa, Miguel Larceda

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Background: Warfarin is the most commonly used drug in the management of thromboembolic disease. However, there is a huge variability in the time, number of doses or starting doses for patients to achieve the required international normalised ratio (INR) which is compounded by a narrow therapeutic index. Many genetic-association studies have reported on European and Asian populations which have led to the designing of specific algorithms that are now being used to assist in warfarin dosing. However, very few or no studies have looked at the pharmacogenetics of warfarin in African populations, yet, huge differences in dosage requirements to reach the same INR have been observed. Objective: We set out to investigate the distribution of 3 SNPs CYP4F2 c.1347C > T, VKORC1 g.-1639G > A and VKORC1 c.1173C > T among South African Mixed Ancestry (MA) and Black African patients. Methods: DNA was extracted from 383 participants and subsequently genotyped using PCR/RFLP for the CYP4F2 c.1347 (V433M) (rs2108622), VKORC1 g.-1639 (rs9923231) and VKORC1 c.1173 (rs9934438) SNPs. Results: Comparing the Black and MA groups, significant differences were observed in the distribution of the following genotypes; CYP4F2 c.1347C/T (23% vs. 39% p=0.03). All VKORC1 g.-1639G > A genotypes (p < 0.006) and all VKORC1 c.1173C > T genotypes (p < 0.007). Conclusion: CYP4F2 c.1347T (V433M) reduces CYP4F2 protein levels and therefore expected to affect the amount of warfarin needed to block vitamin k recycling. The VKORC1 g-1639A variant alters transcriptional regulation therefore affecting the function of vitamin k epoxide reductase in vitamin k production. The VKORC1 c.1173T variant reduces the enzyme activity of VKORC1 consequently enhancing the effectiveness of warfarin. These are preliminary results; more genetic characterization is required to understand all the genetic determinants affecting how patients respond to warfarin.

Keywords: algorithms, pharmacogenetics, thromboembolic disease, warfarin

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Authors: Amr A. El Hanafy, Muhammad I. Qureshi, Jamal Sabir, Mohamed Mutawakil, Mohamed M. Ahmed, Hassan El Ashmaoui, Hassan Ramadan, Mohamed Abou-Alsoud, Mahmoud Abdel Sadek

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β-Lactoglobulin (β-LG) is the dominant non-casein whey protein found in bovine milk and of most ruminants. The amino acid sequence of β-LG along with its 3-dimensional structure illustrates linkage with the lipocalin superfamily. Preliminary studies in goats indicated that milk yield can be influenced by polymorphism in genes coding for whey proteins. The aim of this study is to identify and evaluate the incidence of functional polymorphisms in the exonic and intronic portions of β-LG gene in native Saudi goat breeds (Ardi, Habsi, and Harri). Blood samples were collected from 300 animals (100 for each breed) and genomic DNA was extracted using QIAamp DNA extraction Kit. A fragment of the β-LG gene from exon 7 to 3’ flanking region was amplified with pairs of specific primers. Subsequent digestion with Sac II restriction endonuclease revealed two alleles (A and B) and three different banding patterns or genotypes i.e. AA, AB and BB. The statistical analysis showed that β-LG AA genotype had higher milk yield than β-LG AB and β-LG BB genotypes. Nucleotide sequencing of the selected β-LG fragments was done and submitted to GenBank NCBI (Accession No. KJ544248, KJ588275, KJ588276, KJ783455, KJ783456 and KJ874959). Two already established SNPs in exon 7 (+4601 and +4603) and one fresh SNP in the 3’ UTR region were detected in the β-LG fragments with designated AA genotype. The polymorphisms in exon 7 did not produce any amino acid change. Phylogenetic analysis on the basis of nucleotide sequences of native Saudi goats indicated evolutional similarity with the GenBank reference sequences of goat, Bubalus bubalis and Bos taurus.

Keywords: β-Lactoglobulin, Saudi goats, PCR-RFLP, functional polymorphism, nucleotide sequencing, phylogenetic analysis

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Authors: Halil Baris Cit, Mert Durmaz

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Subsequent to the design of the compact centrifugal compressor, which is specifically intended to be used in aviation platforms, the process has been evaluated within the context of this study. A trade-off study matrix for future studies has been formed after making comparison between the design and the previous studies taking part in literature. While the power consumption of the designed compressor will be approximately 25 kW, the working fluid will be refrigerant. Properties such as thermodynamic properties and Global Warmin Potential(GWP)-Ozone Depletion Potential(ODP) Values of the fluid have been taken into consideration during the selection process of the refrigerant. Concepts NREC and ANSYS Vista CCD software have been used in the part of conceptual design, and R1233ZD has been selected as the refrigerant. Real-gas Computational Fluid Dynamic(CFD) analysis has been carried out with different cubic equations of state in the ANSYS CFX solver so as to figure out the most suitable solution method. These equations are named as “The Redlich Kwong”, “Soave Redlich Kwong”, “Augnier Redlick Kwong,” and “Peng Robinson.” By being used the mentioned solution equations in the same compressor configuration, analysis also have been carried out with two gases having different characteristics. As a result of the 12 analysis carried out with three different refrigerants—R11, R134A, and R1233zd—and four different solution equations mentioned above, the most accurate solution method has been selected by comparing the densities of the gases at different pressure and temperature points. The results have been analyzed within two titles following to the completion of the design with the selected equation. The first one is a trade-off study matrix presenting a comparison regarding the compact centrifugal compressor operating with the refrigerant to be designed. This comparison is between some dimensionless and dimensional parameters determined before the design and their values in the literature. Second one will show the differences between the actual density and the density in the design software in each real gas analysis method, along with the effects of it on the design.

Keywords: turbocompressor, refrigerant, aviation, aerospace compressor

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Authors: Noa Nelson, Orit Appel, Rachel Ben-ari

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Organizational Citizenship Behavior (OCB) is voluntary employee behavior that contributes to the organization beyond formal job requirements. It can take different forms, such as helping teammates (OCB toward individuals; hence, OCB-I), or staying after hours to attend a task force (OCB toward the organization; hence, OCB-O). Generally, OCB contributes substantially to organizational climate, goals, productivity, and resilience, so organizations need to understand what encourages it. This is particularly challenging in security organizations. Security work is characterized by high levels of stress and burnout, which is detrimental to OCB, and security organizational design emphasizes formal rules and clear hierarchies, leaving employees with less freedom for voluntary behavior. The current research explored the role of Perceived Procedural Justice (PPJ) in enhancing OCB in a security organization. PPJ refers to how fair decision-making processes are perceived to be. It involves the sense that decision makers are objective, attentive to everyone's interests, respectful in their communications and participatory - allowing individuals a voice in decision processes. Justice perceptions affect motivation, and it was specifically suggested that PPJ creates an attachment to one's organization and personal interest in its success. Accordingly, PPJ had been associated with OCB, but hardly any research tested their association with security organizations. The current research was conducted among prison guards in the Israel Prison Service, to test a correlational and a causal association between PPJ and OCB. It differentiated between perceptions of direct commander procedural justice (CPJ), and perceptions of organization procedural justice (OPJ), hypothesizing that CPJ would relate to OCB-I, while OPJ would relate to OCB-O. In the first study, 336 prison guards (305 male) from 10 different prisons responded to questionnaires measuring their own CPJ, OPJ, OCB-I, and OCB-O. Hierarchical linear regression analyses indicated the significance of commander procedural justice (CPJ): It associated with OCB-I and also associated with OPJ, which, in turn, associated with OCB-O. The second study tested CPJ's causal effects on prison guards' OCB-I and OCB-O; 311 prison guards (275 male) from 14 different prisons read scenarios that described either high or low CPJ, and then evaluated the likelihood of that commander's prison guards performing OCB-I and OCB-O. In this study, CPJ enhanced OCB-O directly. It also contributed to OCB-I, indirectly: CPJ enhanced the motivation for collaboration with the commander, which respondents also evaluated after reading scenarios. Collaboration, in turn, associated with OCB-I. The studies demonstrate that procedural justice, especially commander's PJ, promotes OCB in security work environments. This is important because extraordinary teamwork and motivation are needed to deal with emergency situations and with delicate security challenges. Following the studies, the Israel Prison Service implemented personal procedural justice training for commanders and unit level programs for procedurally just decision processes. From a theoretical perspective, the studies extend the knowledge on PPJ and OCB to security work environments and contribute evidence on PPJ's causal effects. They also call for further research, to understand the mechanisms through which different types of PPJ affect different types of OCB.

Keywords: organizational citizenship behavior, perceived procedural justice, prison guards, security organizations

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Authors: Seyede Sanaz Seyedebrahimi, Shima Rahimi, Shohreh Fakhari, Ali Jalili

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Background: CXCR4, as a chemokine receptor, plays well-known roles in various types of cancers. Several studies have been conducted to overcome CXCR4 axis acts in multiple myeloma (MM) pathogenesis and progression. Dexamethasone, a standard treatment for multiple myeloma, has been shown to increase CXCR4 levels in multiple myeloma cell lines. Herein, we focused on the effects of metformin and dexamethasone on CXCR4 at the cellular level and the migration rate of cell lines after exposure to a combination compared to single-agent models. Materials and Method: Multiple myeloma cell lines (U266 and RPMI8226) were cultured with different metformin and dexamethasone concentrations in single-agent and combination models. The simultaneous combination doses were calculated by CompuSyn software. Cell surface and mRNA expression of CXCR4 were determined using flow cytometry and the quantitative reverse transcription-polymerase chain reaction (qRT-PCR) assay, respectively. The Transwell cell migration assay evaluated the migration ability. Results: In concurred with previous studies, our results showed a dexamethasone up-regulation effect on CXCR4 in a dose-dependent manner. Although, the metformin single-agent model could reduce CXCR4 expression of U266 and RPMI8226 in cell surface and mRNA expression level. Moreover, the administration of metformin and dexamethasone simultaneously exerted a higher suppression effect on CXCR4 expression than the metformin single-agent model. The migration rate through the combination model's matrigel membrane was remarkably lower than the metformin and dexamethasone single-agent model. Discussion: According to our findings, the combination of metformin and dexamethasone effectively inhibited dexamethasone-induced CXCR4 expression in multiple myeloma cell lines. As a result, metformin may be counted as an alternative medicine combined with other chemotherapies to combat multiple myeloma. However, more research is required.

Keywords: CXCR4, dexamethasone, metformin, migration, multiple myeloma

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Authors: Asiya Mahtab, Sushama Talegaonkar

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The research is aimed at developing targeted lipid-based nanocarrier systems of chondroitin sulfate (CS) to deliver an antirheumatic drug to the inflammatory site in arthritic paw. Lipid-based nanoparticle (TEF-lipo) was prepared by using a thin-film hydration method. The coating of prepared drug-loaded nanoparticles was done by the ionic interaction mechanism. TEF-lipo and CS-coated lipid nanoparticle (CS-lipo) were characterized for mean droplet size, zeta potential, and surface morphology. TEF-lipo and CS-lipo were further subjected to in vitro cell line studies on RAW 264.7 murine macrophage, U937, and MG 63 cell lines. The pharmacodynamic study was performed to establish the effectiveness of the prepared lipid-based conventional and targeted nanoparticles in comparison to pure drugs. Droplet size and zeta potential of TEF-lipo were found to be 128. 92 ± 5.42 nm and +12.6 ± 1.2 mV. It was observed that after the coating of TEF-lipo with CS, particle size increased to 155.6± 2.12 nm and zeta potential changed to -10.2± 1.4mV. Transmission electron microscopic analysis revealed that the nanovesicles were uniformly dispersed and detached from each other. Formulations followed sustained release pattern up to 24 h. Results of cell line studies ind icated that CS-lipo formulation showed the highest cytotoxic potential, thereby proving its enhanced ability to kill the RAW 264.7 murine macrophage and U937 cells when compared with other formulations. It is clear from our in vivo pharmacodynamic results that targeted nanocarriers had a higher inhibitory effect on arthritis progression than nontargeted nanocarriers or free drugs. Results demonstrate that this approach will provide effective treatment for rheumatoid arthritis, and CS served as a potential prophylactic against the advancement of cartilage degeneration.

Keywords: adjuvant induced arthritis, chondroitin sulfate, rheumatoid arthritis, teriflunomide

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Authors: Ruchi Jain, Chinnakonda S. Gopinath

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The CO oxidation is a primary reaction in heterogeneous catalysis due to its potential to overcome the air pollution caused by various reasons. Indeed, in the study of sustainable catalysis, the role played by water is very important. The present work is focused on studying the effect of moisture on the sustainability of Co3O4 NR catalyst for CO oxidation reaction at ambient temperature. The catalytic activity, electronic structure and the mechanistic aspects of spinel Co3O4 nanorod surfaces have been explored in dry and wet atmosphere by near-ambient pressure photoelectron spectroscopic techniques (NAP-PES) with conventional x-ray (Al kα) and ultraviolet sources (He-I).Comparative NAPPES studies have been employed to understand the elucidation of the catalytic reaction pathway and the evolution of various surface species. The presence of water with CO+O2 plummet the catalytic activity due to the change in electronic nature from predominantly oxidic (without water in the feed) to few intermediates covered Co3O4 surface. However, ≥ 375 K Co3O4 surface recovers and regain oxidation activity, at least partially, even in the presence of water. Above mentioned observations are fully supported by the changes observed in the work function of Co3O4 in the presence of wet (H2O+CO+O2) compared to dry (CO+O2) conditions. Various type of surface species, such as CO(ads), carbonate, formate, are found to be on the catalyst surface depending on the reaction conditions. Under dry condition, CO couples with labile O atoms to form CO2, however under wet conditions it also interacts with surface OH groups results in the formation carbonate and formate intermediate. The carbonate acts at reaction inhibitor at room temperature, however proves as active intermediate at temperature 375 K or above. On the other hand, formate has proved to be reaction spectator due to its high stability. The intrinsic role of these species to suppress the oxidation has been demonstrated through a possible reaction mechanism under different reaction conditions.

Keywords: heterogeneous catalysis, surface chemistry, photoelectron spectroscopy, ambient oxidation

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Authors: Moh’d A. AL-Shboul

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Recently, and due to Arab spring and terrorism around the globe, pushing and driving most governments potentially to harmonize their border measures particularly the regional and an international transit trade within and among Customs Unions. The main purpose of this study is to investigate and provide an insight for monitoring and controlling the trade supply chain within and among different countries by using technological advancement (i.e. an electronic tracking system, etc.); furthermore, facilitate the local and intra-regional trade among countries through reviewing the recent trends and practical implementation of an electronic transit traffic and cargo that related to customs measures by introducing and supporting some case studies of several international and landlocked transit trade countries. The research methodology employed in this study was described as qualitative by conducting few interviews with managers, transit truck drivers, and traders and reviewing the related literature to collect qualitative data from secondary sources such as statistical reports, previous studies, etc. The results in this study show that Jordan and other countries around the globe that used an electronic tracking system for monitoring transit trade has led to a significant reduction in cost, effort and time in physical movement of goods internally and crossing through other countries. Therefore, there is no need to escort transit trucks by customs staff; hence, the rate of escort transit trucks is reduced by more than ninety percent, except the bulky and high duty goods. Electronic transit traffic has been increased; the average transit time journey has been reduced by more than seventy percent and has led to decrease in rates of smuggling up to fifty percent. The researcher recommends considering Jordan as regional and international office for tracking electronically and monitoring the transit trade for many considerations.

Keywords: electronic tracking system, facilitation system, regional and international corridor, supply chain security, transit trade

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Authors: Mohammad Aminnia, Mahmood Hosseini

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Environmental and functional conditions sometimes necessitate the architectural plan of the building to be asymmetric, and this result in an asymmetric structure. In such cases, finding an optimal pattern for locating the components of the lateral load bearing system, including shear walls, in the building’s plan is desired. In case of shear walls, in addition to the location, the shape of the wall cross-section is also an effective factor. Various types of shear wall and their proper layout might come effective in better stiffness distribution and more appropriate seismic response of the building. Several studies have been conducted in the context of analysis and design of shear walls; however, few studies have been performed on making decisions for the location and form of shear walls in multi-story buildings, especially those with irregular plan. In this study, an attempt has been made to obtain the most reliable seismic behavior of multi-story reinforced concrete vertically chamfered buildings by using more appropriate shear walls form and arrangement in 7-, 10-, 12-, and 15-story buildings. The considered forms and arrangements include common rectangular walls and L-, T-, U- and Z-shaped plan, located as the core or in the outer frames of the building structure. Comparison of seismic behaviors of the buildings, including maximum roof displacement, and particularly the formation of plastic hinges and their distribution in the buildings’ structures, have been done based on the results of a series of nonlinear time history analyses by using a set of selected earthquake records. Results show that shear walls with U-shaped cross-section, placed as the building central core, and also walls with Z-shaped cross-section, placed at the corners give the building more reliable seismic behavior.

Keywords: vertically chamfered buildings, non-linear time history analyses, l-, t-, u- and z-shaped plan walls

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Authors: Sylwia Orzechowska, Andrzej Wróbel, Eugeniusz Rokita

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The mineralization is a curious problem of connective tissues. Factors which may play a decisive role in the regulation of the yellow ligaments (YL) mineralization are still open questions. The aim of the studies was a detailed description of the chemical composition and morphology of mineral deposits in the human yellow ligaments. Investigations of the structural features of deposits were used to explain the impact of various factors on mineralization process. The studies were carried out on 24 YL samples, surgically removed from patients suffer from spinal canal stenosis and the patients who sustained a trauma. The micro-computed tomography was used to describe the morphology of mineral deposits. The X-ray fluorescence method and Fourier transform infrared spectroscopy were applied to determine the chemical composition of the samples. In order to eliminate the effect of blur in microtomographic images, the correction method of partial volume effect was used. The mineral deposits appear in 60% of YL samples, both in patients with a stenosis and following injury. The mineral deposits have a heterogeneous structure and they are a mixture of the tissue and mineral grains. The volume of mineral grains amounts to (1.9 ± 3.4)*10-3 mm3 while the density distribution of grains occurs in two distinct ranges (1.75 - 2.15 and 2.15-2.5) g/cm3. Application of the partial volume effect correction allows accurate calculations by eliminating the averaging effect of gray levels in tomographic images. The B-type carbonate-containing hydroxyapatite constitutes the mineral phase of majority YLs. The main phase of two samples was calcium pyrophosphate dihydrate (CPPD). The elemental composition of minerals in all samples is almost identical. This pathology may be independent on the spine diseases and it does not evoke canal stenosis. The two ranges of grains density indicate two stages of grains growth and the degree of maturity. The presence of CPPD crystals may coexist with other pathologies.

Keywords: FTIR, micro-tomography, mineralization, spinal ligaments

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Authors: I. Boroňová, J. Bernasovská, J. Kmec, E. Petrejčíková

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Dilated cardiomyopathy (DCM) is a primary myocardial disease, it is characterized by progressive systolic dysfunction due to cardiac chamber dilatation and inefficient myocardial contractility with estimated prevalence of 37 in 100 000 people. It is the most frequent cause of heart failure and cardiac transplantation in young adults. About one-third of all patients have a suspected familial disease indicating a genetic basis of DCM. Many candidate gene studies in humans have tested the association of single nucleotide polymorphisms (SNPs) in various genes coding for proteins with a known cardiovascular function. In our study we present the results of ZBTB17 gene rs10927875 polymorphism genotyping in relation to dilated cardiomyopathy in Slovak population. The study included 78 individuals, 39 patients with DCM and 39 healthy control persons. The mean age of patients with DCM was 50.7±11.5 years; the mean age of individuals in control group was 51.3±9.8 years. Risk factors detected at baseline in each group included age, sex, body mass index, smoking status, diabetes and blood pressure. Genomic DNA was extracted from leukocytes by a standard methodology and screened for rs10927875 polymorphism in intron of ZBTB17 gene using Real-time PCR method (Step One Applied Biosystems). The distribution of investigated genotypes for rs10927875 polymorphism in the group of patients with DCM was as follows: CC (89.74%), CT (10.26%), TT (0%), and the distribution in the control group: CC (92.31%), CT (5.13%), and TT (2.56%). Using the chi-square (χ2) test we compared genotype and allele frequencies between patients and controls. There was no difference in genotype or allele frequencies in ZBTB17 gene rs10927875 polymorphism between patients and control group (χ2=3.028, p=0.220; χ2=0.264, p=0.608). Our results represent an initial study, it can be considered as preliminary and first of its kind in Slovak population. Further studies of ZBTB17 gene polymorphisms of more numerous files and additional functional investigations are needed to fully understand the role of genetic associations.

Keywords: dilated cardiomyopathy, SNP polymorphism, ZBTB17 gene, bioscience

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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

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