Search results for: Rare vascular phenomenon
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 3256

Search results for: Rare vascular phenomenon

2806 Case Report and Discussion of Natural History of Bouveret Syndrome

Authors: Parul Garg

Abstract:

Bouveret Syndrome is a rare presentation described as Gastric Outlet Obstruction secondary to Gallstone Ileus. Here we describe the 3-year progression of disease from cholelithiasis to gallstone ileus with relevant imaging findings. The patient was treated under an Upper Gastrointestinal Surgery service with surgical intervention in the form of a laparoscopic assisted procedure with midline laparotomy. She recovered well and was discharged 1 week post operatively. No complications occurred.

Keywords: Cholelithiasis, Bouveret syndrome, Gallstone Ileus, gastric outlet obstruction

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2805 Amsan Syndrome in Emergency Department

Authors: Okan Cakir, Okan Tatli

Abstract:

Acute motor and sensory axonal neuropathy (AMSAN) syndrome usually occurs following a postviral infection in two to four weeks and is a polyneuropathy characterized by axonal and sensorial degeneration as a rare variant of Gullian-Barre syndrome. In our case, we wanted to mention that a rare case of AMSAN Syndrome due to prior surgery. A 61-year-old male case admitted to emergency department with complaints of weakness in feet, numbness and incapability to walk. In his history, it was learned that endovascular aneurysm repair (EVAR) had applied for abdominal aort aneurysm two weeks ago before admission, his complaints had been for a couple of days increasingly and bilaterally, and there had been no infection disease history for four weeks. In physical examination, general status was good, vital signs were stable, and there was a mild paresis in dorsal flexion of feet in bilaterally lower extremities. No nuchal rigidity was determined. Other system examinations were normal. Urea:52 mg/dL (normal range: 15-44 mg/dL), creatinine: 1,05 mg/dL (normal range: 0,81-1,4 mg/dL), potassium: 3,68 mmol/L (normal range: 3,5-5,5 mmol/L), glycaemia: 142 mg/dL, calcium: 9,71 mg/dL (normal range: 8,5-10,5 mg/dL), erythrocyte sedimentation rate (ESR): 74 mm/h (normal range: 0-15 mm/h) were determined in biochemical tests. The case was consulted to neurology department and hospitalized. In performing electromyography, it was reported as a bilateral significant axonal degeneration with sensory-motor polyneuropathy. Normal ranges of glycaemia and protein levels were detected in lumbal punction. Viral markers and bucella, toxoplasma, and rubella markers were in normal range. Intravenous immunoglobulin (IVIG) was applied as a treatment, physical treatment programme was planned and the case discharged from neurology department. In our case, we mentioned that it should be considered polyneuropathy as an alternative diagnosis in cases admitting symptoms like weakness and numbness had a history of prior surgery.

Keywords: AMSAN Syndrome, emergency department, prior surgery, weakness

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2804 Detection of PCD-Related Transcription Factors for Improving Salt Tolerance in Plant

Authors: A. Bahieldin, A. Atef, S. Edris, N. O. Gadalla, S. M. Hassan, M. A. Al-Kordy, A. M. Ramadan, A. S. M. Al- Hajar, F. M. El-Domyati

Abstract:

The idea of this work is based on a natural exciting phenomenon suggesting that suppression of genes related to the program cell death (or PCD) mechanism might help the plant cells to efficiently tolerate abiotic stresses. The scope of this work was the detection of PCD-related transcription factors (TFs) that might also be related to salt stress tolerance in plant. Two model plants, e.g., tobacco and Arabidopsis, were utilized in order to investigate this phenomenon. Occurrence of PCD was first proven by Evans blue staining and DNA laddering after tobacco leaf discs were treated with oxalic acid (OA) treatment (20 mM) for 24 h. A number of 31 TFs up regulated after 2 h and co-expressed with genes harboring PCD-related domains were detected via RNA-Seq analysis and annotation. These TFs were knocked down via virus induced gene silencing (VIGS), an RNA interference (RNAi) approach, and tested for their influence on triggering PCD machinery. Then, Arabidopsis SALK knocked out T-DNA insertion mutants in selected TFs analogs to those in tobacco were tested under salt stress (up to 250 mM NaCl) in order to detect the influence of different TFs on conferring salt tolerance in Arabidopsis. Involvement of a number of candidate abiotic-stress related TFs was investigated.

Keywords: VIGS, PCD, RNA-Seq, transcription factors

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2803 Dilution Effect in Islamic Finance: The Case of Convertible Sukuk

Authors: Mahfoud Djebbar

Abstract:

Stock dilution is a financial phenomenon resulting from the issue of additional shares by a company, or when holders convert their convertibles into new shares (capital increase). This issue and/or conversion enlarge the company’s share base that will result in marginal dilution (loss) for existing shareholders, and a benefit to new ones. Dilution issues have already been addressed in mainstream finance, particularly as far as information disclosure is concerned. However, in Islamic finance, stock dilution problems have not been deeply studied and the subject has not received sufficient attention from shariah-compatible firms, investors, and scholars. In this regard, this paper emphasises the forms, the effects of capital dilution on current shareholders as well as the ways and techniques of compensating them. And since the research in this field, in its Islamic perspective, is still in its infancy, the paper tries to analyse the phenomenon theoretically in detail using numerical examples, and expose some case studies of Shariah-compliant issuers of convertible Sukuk and how they compensate their existing shareholders. Finally, this study shows that the Sukuk issuers compensate old shareholders using the right of shuf’ah as a well known and practiced pre-emptive right in Islamic transactions centuries ago, as well as the ways conventional bond issuers use.

Keywords: compensating shareholders, convertible Sukuk, Islamic financial innovation, Shuf’ah

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2802 A 2D Numerical Model of Viscous Flow-Cylinder Interaction

Authors: Bang-Fuh Chen, Chih-Chun Chu

Abstract:

The flow induced cylinder vibration or earthquake-induced cylinder motion are moving in an arbitrary direction with time. The phenomenon of flow across cylinder is highly nonlinear and a linear-superposition of flow pattern across separated oscillating direction of cylinder motion is not valid to obtain the flow pattern across a cylinder oscillating in multiple directions. A novel finite difference scheme is developed to simulate the viscous flow across an arbitrary moving circular cylinder and we call this a complete 2D (two-dimensional) flow-cylinder interaction. That is, the cylinder is simultaneously oscillating in x- and y- directions. The time-dependent domain and meshes associated with the moving cylinder are mapped to a fixed computational domain and meshes, which are time independent. The numerical results are validated by several bench mark studies. Several examples are introduced including flow across steam-wise, transverse oscillating cylinder and flow across rotating cylinder and flow across arbitrary moving cylinder. The Morison’s formula can not describe the complex interaction phenomenon between cross flow and oscillating circular cylinder. And the completed 2D computational fluid dynamic analysis should be made to obtain the correct hydrodynamic force acting on the cylinder.

Keywords: 2D cylinder, finite-difference method, flow-cylinder interaction, flow induced vibration

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2801 An Improved OCR Algorithm on Appearance Recognition of Electronic Components Based on Self-adaptation of Multifont Template

Authors: Zhu-Qing Jia, Tao Lin, Tong Zhou

Abstract:

The recognition method of Optical Character Recognition has been expensively utilized, while it is rare to be employed specifically in recognition of electronic components. This paper suggests a high-effective algorithm on appearance identification of integrated circuit components based on the existing methods of character recognition, and analyze the pros and cons.

Keywords: optical character recognition, fuzzy page identification, mutual correlation matrix, confidence self-adaptation

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2800 Knowledge of Nature through the Ultimate Methodology of Buddhism and Philosophy of Karmic Consequence to Uproot through the Buddha’s Perspective

Authors: Pushpa Debnath

Abstract:

Buddhism implies the ultimate methodology to obtain the acknowledgment to get out from cycling existence applied by the sutras. The Buddha’s natural methodology is the highest way of cessation from suffering existence. To be out of it, one must know the suffering before having tentativeness. According to the Buddha’s methodology, one can observe every being suffer from chronologically grasping craving. It is because lack of knowledge that the Buddha finds the four noble truths which are the basic states. These are suffering, the origin of suffering, cessation of suffering, and the path leading to the cessation of suffering. The Buddha describes that birth is suffering, aging is suffering, sickness is suffering, death is suffering, association with the unexpected is suffering, separation from the pleasant is suffering, and not receiving what one desires is suffering, In brief, the five aggregates of clinging are suffering. As the five aggregates are form, feeling, perception, mental formation, and consciousness. These are known as the matter that we identify with “You, Me” or “He.” The second truth cause of suffering is craving which has three types: craving for sense pleasures, craving for existence, and craving for non-existence. The third truth is the obliteration of craving, suffering can be eliminated to attain the Nibbana. The fourth truth is the path of liberation is the noble eight-fold path consisting of the right view, right intention, right speech, right action, right livelihood, right effort, right mindfulness, and right concentration. The six senses are the media of the eye, ear, nose, tongue, body, and mind sense faculties relating with the five aggregates and the six senses objects visual objects, sounds, smells, tastes, touch, and mind-objects that are contained by every visible being. The first five internal sense bases are material while the mind is a non-material phenomenon. Contact with the external world maintains by receiving through the six senses; visual objects through the eye, sounds through the ear, smells through the nose, tastes through the tongue, touch through the body, and mind-objects through sense faculties. These are the six senses a living being experiences by craving. Everything is conglomerated with all senses faculties through the natural phenomenon which are earth, water, fire, and air element. In this analysis, it is believed that beings are well adapted to the natural phenomenon. Everybody has fear of life because we have hatred, delusion, and anger which are the primary resources of falling into (Samsara) continuously that is the continuity of the natural way. These are the reasons for the suffering that chronically self-diluting through the threefold way. These are the roots of the entire beings suffering so the Buddha finds the enlightenment to uproot from cycling existence and the understanding of the natural consequence. When one could uproot ignorance, one could able to realize the ultimate happiness of Nirvana. From the craving of ignorance, everything starts to be present to the future which gives us mental agonies in existence.

Keywords: purification, morality, natural phenomenon, analysis, development of mind, observatory, Nirvana

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2799 Study of the Phenomenon Nature of Order and Disorder in BaMn(Fe/V)F7 Fluoride Glass by the Hybrid Reverse Monte Carlo Method

Authors: Sidi Mohamed Mesli, Mohamed Habchi, Mohamed Kotbi, Rafik Benallal, Abdelali Derouiche

Abstract:

Fluoride glasses with a nominal composition of BaMnMF7 (M = FeV assuming isomorphous replacement) have been structurally modelled through the simultaneous simulation of their neutron diffraction patterns by a reverse Monte Carlo (RMC) model and by a Rietveld for disordered materials (RDM) method. Model is consistent with an expected network of interconnected [MF6] polyhedra. The RMC results are accompanied by artificial satellite peaks. To remedy this problem, we use an extension of the RMC algorithm, which introduces an energy penalty term in acceptance criteria. This method is called the Hybrid Reverse Monte Carlo (HRMC) method. The idea of this paper is to apply the (HRMC) method to the title glasses, in order to make a study of the phenomenon nature of order and disorder by displaying and discussing the partial pair distribution functions (PDFs) g(r). We suggest that this method can be used to describe average correlations between components of fluoride glass or similar system.

Keywords: fluoride glasses, RMC simulation, neutron scattering, hybrid RMC simulation, Lennard-Jones potential, partial pair distribution functions

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2798 Europium Chelates as a Platform for Biosensing

Authors: Eiman A. Al-Enezi, Gin Jose, Sikha Saha, Paul Millner

Abstract:

Rare earth nanotechnology has gained a considerable amount of interest in the field of biosensing due to the unique luminescence properties of lanthanides. Chelating rare earth ions plays a significant role in biological labelling applications including medical diagnostics, due to their different excitation and emission wavelengths, variety of their spectral properties, sharp emission peaks and long fluorescence lifetimes. We aimed to develop a platform for biosensors based on Europium (Eu³⁺) chelates against biomarkers of cardiac injury (heart-type fatty acid binding protein; H-FABP3) and stroke (glial fibrillary acidic protein; GFAP). Additional novelty in this project is the use of synthetic binding proteins (Affimers), which could offer an excellent alternative targeting strategy to the existing antibodies. Anti-GFAP and anti-HFABP3 Affimer binders were modified to increase the number of carboxy functionalities. Europium nitrate then incubated with the modified Affimer. The luminescence characteristics of the Eu³⁺ complex with modified Affimers and antibodies against anti-GFAP and anti-HFABP3 were measured against different concentrations of the respective analytes on excitation wavelength of 395nm. Bovine serum albumin (BSA) was used as a control against the IgG/Affimer Eu³⁺ complexes. The emission spectrum of Eu³⁺ complex resulted in 5 emission peaks ranging between 550-750 nm with the highest intensity peaks were at 592 and 698 nm. The fluorescence intensity of Eu³⁺ chelates with the modified Affimer or antibodies increased significantly by 4-7 folder compared to the emission spectrum of Eu³⁺ complex. The fluorescence intensity of the Affimer complex was quenched proportionally with increased analyte concentration, but this did not occur with antibody complex. In contrast, the fluorescence intensity for Eu³⁺ complex increased slightly against increased concentration of BSA. These data demonstrate that modified Affimers Eu³⁺ complexes can function as nanobiosensors with potential diagnostic and analytical applications.

Keywords: lanthanides, europium, chelates, biosensors

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2797 Modelling and Simulation of Aero-Elastic Vibrations Using System Dynamic Approach

Authors: Cosmas Pandit Pagwiwoko, Ammar Khaled Abdelaziz Abdelsamia

Abstract:

Flutter as a phenomenon of flow-induced and self-excited vibration has to be recognized considering its harmful effect on the structure especially in a stage of aircraft design. This phenomenon is also important for a wind energy harvester based on the fluttering surface due to its effective operational velocity range. This multi-physics occurrence can be presented by two governing equations in both fluid and structure simultaneously in respecting certain boundary conditions on the surface of the body. In this work, the equations are resolved separately by two distinct solvers, one-time step of each domain. The modelling and simulation of this flow-structure interaction in ANSYS show the effectiveness of this loosely coupled method in representing flutter phenomenon however the process is time-consuming for design purposes. Therefore, another technique using the same weak coupled aero-structure is proposed by using system dynamics approach. In this technique, the aerodynamic forces were calculated using singularity function for a range of frequencies and certain natural mode shapes are transformed into time domain by employing an approximation model of fraction rational function in Laplace variable. The representation of structure in a multi-degree-of-freedom coupled with a transfer function of aerodynamic forces can then be simulated in time domain on a block-diagram platform such as Simulink MATLAB. The dynamic response of flutter at certain velocity can be evaluated with another established flutter calculation in frequency domain k-method. In this method, a parameter of artificial structural damping is inserted in the equation of motion to assure the energy balance of flow and vibrating structure. The simulation in time domain is particularly interested as it enables to apply the structural non-linear factors accurately. Experimental tests on a fluttering airfoil in the wind tunnel are also conducted to validate the method.

Keywords: flutter, flow-induced vibration, flow-structure interaction, non-linear structure

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2796 Some Reasons for the Pervasiveness of the Blood Feud among Albanians: An Albanian Phenomenon or Lack of Malfunction of the Judicial Structure

Authors: Arburim Iseni, Afrim Aliti, Nagri Rexhepi

Abstract:

The blood feud or blood-taking is a social obligation to commit murder in order to salvage honor questioned by an earlier murder or moral humiliation. This social obligation is still preserved as a stub among Albanians when honor is violated. By the term honor are understood many things, such as honor to the family, house, guest, property, etc. Many Albanian family members are forced to stay locked up at home because of the blood killing, whereas other families abandon their houses and migrate to other places. Nonetheless, Albanians maintain close ties with their extended families, clans, and tribes and thus chances are high that the violence can beget more violence and without reconciliation of the blood these families will always be endangered. One of the reasons for the pervasiveness of the blood feud is the poor social conditions, political imbroglio and the power vacuum which comes from the corrupted and judiciary system of the state. Contrary to this, Albanian blood feud is not a phenomenon present only to the Albanians, but it also takes place in some other cultures and nations, such as: Chechens, Montenegrins, Serbians, and lately more radical one is between Amman and Israel who are at constant feud.

Keywords: honor, blood feud, reconciliation, power vacuum, poor social conditions, political imbroglio

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2795 Affective Communities of Women in the Classic Spanish-Mexican-Argentinian Cinema. A Comparative Perspective from a South-South Gaze

Authors: Invernizzi Agostina

Abstract:

From the 1930s, it is possible to find a phenomenon that persists through to the sixties in the national filmographies of different southern latitudes (Spain, Mexico, Argentina): the proliferation of ensemble films of groups of women who serve base to elaborate broader social conflicts and to construct imaginaries of the nation and of genders. This paper will address the modes of figuration of some affective imaginaries among women where the forms of sociability and the bonds of sisterhood are determined by the spaces in which the women are grouped. In these films, there are forms of affectivity that dispute the meanings of the patriarchal order of the time. One of the hypotheses is that these films formulate communities of women that carry out a reconfiguration of affective and transnational spaces. This research presents a multidisciplinary approach that simultaneously combines film and audiovisual studies, gender studies, decolonial feminist theories, and affects theories. The study of this phenomenon will provide us with keys for articulating with current problematics, such as the genealogies of women's movements, of which the cinema offers echoes and is a privileged medium for reflection and social change, as well as the international contact flows between these three geographical points, their migratory processes and cultural exchanges, transnationalism and integration.

Keywords: affects, feminisms, film studies, gender

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2794 Just Not Seeing It: Exploring the Relationship between Inattention Blindness and Banner Blindness

Authors: Carie Cunningham, Krsiten Lynch

Abstract:

Despite a viewer’s thought that they may be paying attention, many times they are missing out on their surrounds-- a phenomenon referred to as inattentional blindness. Inattention blindness refers to the failure of an individual to orient their attention to a particular item in their visual field. This well-defined in the psychology literature. Similarly, this phenomenon has been evaluated in media types in advertising. In advertising, not comprehending/remembering items in one’s field of vision is known as banner blindness. On the other hand, banner blindness is a phenomenon that occurs when individuals habitually see a banner in a specific area on a webpage, and thus condition themselves to ignore those habitual areas. Another reason that individuals avoid these habitual areas (usually on the top or sides of a webpage) is due to the lack of personal relevance or pertinent information to the viewer. Banner blindness, while a web-based concept, may also relate this inattention blindness. This paper is proposing an analysis of the true similarities and differences between these concepts bridging the two dimensions of thinking together. Forty participants participated in an eye-tracking and post-survey experiment to test attention and memory measures in both a banner blindness and inattention blindness condition. The two conditions were conducted between subjects semi-randomized order. Half of participants were told to search through the content ignoring the advertising banners; the other half of participants were first told to search through the content ignoring the distractor icon. These groups were switched after 5 trials and then 5 more trials were completed. In review of the literature, sustainability communication was found to have many inconsistencies with message production and viewer awareness. For the purpose of this study, we used advertising materials as stimuli. Results suggest that there are gaps between the two concepts and that more research should be done testing these effects in a real world setting versus an online environment. This contributes to theory by exploring the overlapping concepts—inattention blindness and banner blindness and providing the advertising industry with support that viewers can still fall victim to ignoring items in their field of view even if not consciously, which will impact message development.

Keywords: attention, banner blindness, eye movement, inattention blindness

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2793 Pleomorphic Dermal Sarcoma: A Management Challenge

Authors: Mona Nada, Fahmy Fahmy

Abstract:

Background: Pleomorphic dermal sarcoma is a rare form of skin cancer affecting cutaneous layer and, in some cases associated with recurrence and metastasis, very commonly to seen in elderly patient affecting the area of head and neck. Pleomorphic dermal sarcoma rises in ultraviolet light exposed areas. The symptoms and severity of this kind of skin cancer varies according to histological factors. The differentiation of Pleomorphic dermal sarcoma needs extensive immunohistochemistry, as the diagnosis depends mainly on exclusion to rule out other malignancy like poorly differentiated squamous cell carcinoma, melanoma, angiosarcoma and leiomyosarcoma. Objective: assessing the management of Pleomorphic dermal sarcoma in our unit and compared to the updated guidelines. Design: Retrospective study Collection of patient data from medical records at countess of Chester plastic surgery unit of the last 5 years, all histologically confirmed Pleomorphic dermal sarcoma (2017-2023). Data were collected confirmed to be Pleomorphic dermal sarcoma were included in the study. The data collected: clinical description of the lesions at first presentation, operation time, multidisciplinary team discussion, plan, referral as well as second operation and investigation done. With comparison of histological examination, immunohistochemistry staining, the excision and rate of recurrence. Results: data collected N19 from (2017-2023) showed the disease predominantly affecting males and the lesion mainly in head and neck, the diagnosis needed extensive immunohistochemistry to differentiate between other malignancy. recurrence present in numbers of the cases which managed after multidisciplinary team discussion either by excision or radiotherapy. Conclusion: Pleomorphic dermal sarcoma is a rare malignancy which needs more understanding and avoid missing as it is aggressive form of skin cancer, there is a chance of metastasis and recurrence which makes it very important to understand the process of development of the cancer and frequent review of the management guidelines.

Keywords: pleomorphic dermal sarcoma, recurrence, radiotherapy, surgical

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2792 Comparison of Reserve Strength Ratio and Capacity Curve Parameters of Offshore Platforms with Distinct Bracing Arrangements

Authors: Aran Dezhban, Hooshang Dolatshahi Pirooz

Abstract:

The phenomenon of corrosion, especially in the Persian Gulf region, is the main cause of the deterioration of offshore platforms, due to the high corrosion of its water. This phenomenon occurs mostly in the area of water spraying, threatening the members of the first floor of the jacket, legs, and piles in this area. In the current study, the effect of bracing arrangement on the Capacity Curve and Reserve Strength Ratio of Fixed-Type Offshore Platforms is investigated. In order to continue the operation of the platform, two modes of robust and damaged structures are considered, while checking the adequacy of the platform capacity based on the allowable values of API RP-2SIM regulations. The platform in question is located in the Persian Gulf, which is modeled on the OpenSEES software. In this research, the Nonlinear Pushover Analysis has been used. After validation, the Capacity Curve of the studied platforms is obtained and then their Reserve Strength Ratio is calculated. Results are compared with the criteria in the API-2SIM regulations.

Keywords: fixed-type jacket structure, structural integrity management, nonlinear pushover analysis, robust and damaged structure, reserve strength ration, capacity curve

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2791 Ethno-Botanical Diversity and Conservation Status of Medicinal Flora at High Terrains of Garhwal (Uttarakhand) Himalaya, India: A Case Study in Context to Multifarious Tourism Growth and Peri-Urban Encroachments

Authors: Aravind Kumar

Abstract:

The high terrains of Garhwal (Uttarakhand) Himalaya are the niches of a number of rare and endemic plant species of great therapeutic importance. However, the wild flora of the area is still under a constant threat due to rapid upsurge in human interferences, especially through multifarious tourism growth and peri-urban encroachments. After getting the status of a ‘Special State’ of the country since its inception in the year 2000, this newly borne State led to very rapid infrastructural growth and development. Consequently, its townships started expanding in an unmanaged way grabbing nearby agricultural lands and forest areas into peri-urban landscapes. Simultaneously, a boom in tourism and pilgrimage in the state and the infrastructural facilities raised by the government for tourists/pilgrims are destroying its biodiversity. Field survey revealed 242 plant species of therapeutic significance naturally growing in the area and being utilized by local inhabitants as traditional medicines. On conservation scale, 6 species (2.2%) were identified as critically endangered, 19 species (7.1%) as the endangered ones, 8 species (3.0%) under rare category, 17 species (6.4%) as threatened and 14 species (5.2%) as vulnerable. The Government of India has brought mega-biodiversity hot spots of the state under Biosphere Reserve, National Parks, etc. restricting all kinds of human interferences; however, the two most sacred shrines of Hindus and Sikhs viz. Shri Badrinath and Shri Hemkunt Sahib, and two great touristic attractions viz. Valley of Flowers and Auli-Joshimath Skiing Track oblige the government to maintain equilibrium between entries of visitors vis-à-vis biodiversity conservation in high terrains of Uttarakhand Himalaya.

Keywords: biodiversity conservation, ethno-botany, Garhwal (Uttarakhand) Himalaya, peri-urban encroachment, pilgrimage and tourism

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2790 LYRM7-Associated Mitochondrial Complex III Deficiency with Non-Cavitating Leukoencephalopathy and Stroke-Like Episodes

Authors: Rita Alfattal, Maryam Alfarhan, Adeeb M. Algaith, Buthaina Albash, Reem M. Elshafie, Asma Alshammari, Ahmad Alahmad, Fatima Dashti, Rasha Alsafi, Hind Alsharhan

Abstract:

Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron‐sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it. We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous LYRM 7 variant, c.2T>C, (p.Met1?). Like previously reported individuals, our 4-year-old male proband presented with recurrent metabolic and lactic acidosis, encephalopathy, and myopathy. Further, he has additional, previously unreported features, including an acute stroke like episode with bilateral central blindness and optic neuropathy, recurrent hyperglycemia and hypertension associated with metabolic crisis. However, he has no signs of psychomotor regression. He has been stable clinically with residual left-sided reduced visual acuity and amblyopia, and no more metabolic crises for 2-year-period while on the mitochondrial cocktail. Although the reported brain MRI findings in other affected individuals are homogenous, it is slightly different in our index, revealing evidence of bilateral almost symmetric multifocal periventricular T2 hyperintensities with hyperintensities of the optic nerves, optic chiasm, and corona radiata but with no cavitation or cystic changes. This report describes new clinical and radiological findings of LYRM7-associated disease. The report also summarizes the clinical and molecular data of previously reported individuals describing the full phenotypic spectrum.

Keywords: LYRM7 gene defect, mitochondrial disease, , lactic acidosis, , genetic disorder

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2789 Contribution of the Study of Inclusion Fluids to the Knowledge of the Conditions of Formation of the Layers with SN-W of Central Hoggar, Algeria

Authors: J. Bouguebrine, L. Bouabsa

Abstract:

The ground of study is localized in central Hoggar and contains the most important layers and Stanno-Wolframifére indices of the metallogenic province have tin and wolfram of Hoggar. These layers are always associate with post-orogenetic Panafrican magmatism (GMR) which was set up in the form of circumscribed granitic solid masses of relatively reduced size or in dykes of microgranites. The area studied are in Tounine, Aléméda, Hanana-hananére, Tim Amzi, El Karoussa. The geochemical data processing watch peralumineux character rich person out of Li-F and rare metals (MR). Pegmatites of the type stocksheider, formations of greisens and mineralization Sn-W accompany these granites. Mineralisation Sn-W, expressed particularly well in the seams of quartz and greinsen is spacialement and génitiquement dependent on the maguatism specific to white feldspar-topaz (GMR) (grained and microgrenu). the mineral paragenesis is primarily made up of wolframite and cassetérite. The minerals of gangue are represented by quartz, topaz, the micas containing lithia and the fluorite. A microthermometric study of fluid inclusions related to the granites end on white feldspar-topaz of Hanana, topaz of Hananére, the microgranite of Aléméda, and the seams of quartz D In Tounine (Tiftazouine) and of Tim Amzi; allows to characterize the fluids associated with these layers. It comes out from this study the abundance of aqueous inclusions and three types of fluids were given: -Hot and salted fluids rich in volatile elements particularly CO2; -follow-ups by aquo-carbonic fluids less hot and moderately salted with temperatures of homogenisations (HT) average respectively of 300°C and 180°C; -finally of the aqueous fluids very little salted (≤1%pds.éq.NaCl) and definitely colder. An estimate depths éteé made starting from the diagram of (Haas, 1971) in the system H2O-NaCl, the results are the following: • Inclusion aqueous (L and Lw): correspond to depths of about 50 à500m. • Inclusions aquo-carbonic (Lcw and Lwc): correspond to depths of L order of 600 with 1200m • Carbonic inclusion (Vcw): correspond to depths about 1400à1800m

Keywords: fluid inclusions microthermométrie, cassiterite wolframite, granites with rare metals, Central Hoggar

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2788 Collaborative Economy in Developing Countries: Perspectives from the Philippines

Authors: Ivy Jessen Galvan

Abstract:

Over the past decade, a phenomenon has emerged at the frontier of the digital economy: a wave of ‘disruptive’ technologies that offer digital solutions to variety of everyday problems, challenging the way traditional industries operate. Most of these disruptive technologies are applications ('apps') that rely on the Internet to connect people to people for sharing, selling, renting, or lending, creating a unique economic model wherein users provide for other users’ demand – called 'collaborative economy.' Although collaborative economy is spreading in every part of the world, there may be different ways in which this phenomenon is unfolding throughout the developing countries. In this study, the characteristics of collaborative economy in the Philippines are highlighted and compared from observations in the developed world. The paper looks at two leading collaborative economy ventures in the Philippines – Grab and Shopee – probing into how these smartphone-based platforms place technology into the 'micro-frictions' of the Philippine developing context. Using framing analysis on interviews conducted among Grab and Shopee users in Metro Manila, three frames have been identified: 1) metropolitan solution; 2) financial inclusion and; 3) formalization of labor. This research contextualizes the Fourth Industrial Revolution in ASEAN by analyzing the effect of a digital economy in everyday life.

Keywords: ASEAN Unicorns, collaborative economy, developing countries, fourth industrial revolution

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2787 Strategies For Management Of Massive Intraoperative Airway Haemorrhage Complicating Surgical Pulmonary Embolectomy

Authors: Nicholas Bayfield, Liam Bibo, Kaushelandra Rathore, Lucas Sanders, Mark Newman

Abstract:

INTRODUCTION: Surgical pulmonary embolectomy is an established therapy for acute pulmonary embolism causing right heart dysfunction and haemodynamic instability. Massive intraoperative airway haemorrhage is a rare complication of pulmonary embolectomy. We present our institutional experience with massive airway haemorrhage complicating pulmonary embolectomy and discuss optimal therapeutic strategies. METHODS: A retrospective review of emergent surgical pulmonary embolectomy patients was undertaken. Cases complicated by massive intra-operative airway haemorrhage were identified. Intra- and peri-operative management strategies were analysed and discussed. RESULTS: Of 76 patients undergoing emergent or salvage pulmonary embolectomy, three cases (3.9%) of massive intraoperative airway haemorrhage were identified. Haemorrhage always began on weaning from cardiopulmonary bypass. Successful management strategies involved intraoperative isolation of the side of bleeding, occluding the affected airway with an endobronchial blocker, institution of veno-arterial (VA) extracorporeal membrane oxygenation (ECMO) and reversal of anticoagulation. Running the ECMO without heparinisation allows coagulation to occur. Airway haemorrhage was controlled within 24 hours of operation in all patients, allowing re-institution of dual lung ventilation and decannulation from ECMO. One case in which positive end-expiratory airway pressure was trialled initially was complicated by air embolism. Although airway haemorrhage was controlled successfully in all cases, all patients died in-hospital for reasons unrelated to the airway haemorrhage. CONCLUSION: Massive intraoperative airway haemorrhage during pulmonary embolectomy is a rare complication with potentially catastrophic outcomes. Re-perfusion alveolar and capillary injury is the likely aetiology. With a systematic approach to management, airway haemorrhage can be well controlled intra-operatively and often resolves within 24 hours. Stopping blood flow to the pulmonary arteries and support of oxygenation by the institution of VA ECMO is important. This management has been successful in our 3 cases.

Keywords: pulmonary embolectomy, cardiopulmonary bypass, cardiac surgery, pulmonary embolism

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2786 Integrating Computational Modeling and Analysis with in Vivo Observations for Enhanced Hemodynamics Diagnostics and Prognosis

Authors: Shreyas S. Hegde, Anindya Deb, Suresh Nagesh

Abstract:

Computational bio-mechanics is developing rapidly as a non-invasive tool to assist the medical fraternity to help in both diagnosis and prognosis of human body related issues such as injuries, cardio-vascular dysfunction, atherosclerotic plaque etc. Any system that would help either properly diagnose such problems or assist prognosis would be a boon to the doctors and medical society in general. Recently a lot of work is being focused in this direction which includes but not limited to various finite element analysis related to dental implants, skull injuries, orthopedic problems involving bones and joints etc. Such numerical solutions are helping medical practitioners to come up with alternate solutions for such problems and in most cases have also reduced the trauma on the patients. Some work also has been done in the area related to the use of computational fluid mechanics to understand the flow of blood through the human body, an area of hemodynamics. Since cardio-vascular diseases are one of the main causes of loss of human life, understanding of the blood flow with and without constraints (such as blockages), providing alternate methods of prognosis and further solutions to take care of issues related to blood flow would help save valuable life of such patients. This project is an attempt to use computational fluid dynamics (CFD) to solve specific problems related to hemodynamics. The hemodynamics simulation is used to gain a better understanding of functional, diagnostic and theoretical aspects of the blood flow. Due to the fact that many fundamental issues of the blood flow, like phenomena associated with pressure and viscous forces fields, are still not fully understood or entirely described through mathematical formulations the characterization of blood flow is still a challenging task. The computational modeling of the blood flow and mechanical interactions that strongly affect the blood flow patterns, based on medical data and imaging represent the most accurate analysis of the blood flow complex behavior. In this project the mathematical modeling of the blood flow in the arteries in the presence of successive blockages has been analyzed using CFD technique. Different cases of blockages in terms of percentages have been modeled using commercial software CATIA V5R20 and simulated using commercial software ANSYS 15.0 to study the effect of varying wall shear stress (WSS) values and also other parameters like the effect of increase in Reynolds number. The concept of fluid structure interaction (FSI) has been used to solve such problems. The model simulation results were validated using in vivo measurement data from existing literature

Keywords: computational fluid dynamics, hemodynamics, blood flow, results validation, arteries

Procedia PDF Downloads 399
2785 Amifostine Analogue, Drde-30, Attenuates Radiation-Induced Lung Injury in Mice

Authors: Aastha Arora, Vikas Bhuria, Saurabh Singh, Uma Pathak, Shweta Mathur, Puja P. Hazari, Rajat Sandhir, Ravi Soni, Anant N. Bhatt, Bilikere S. Dwarakanath

Abstract:

Radiotherapy is an effective curative and palliative option for patients with thoracic malignancies. However, lung injury, comprising of pneumonitis and fibrosis, remains a significant clin¬ical complication of thoracic radiation, thus making it a dose-limiting factor. Also, injury to the lung is often reported as part of multi-organ failure in victims of accidental radiation exposures. Radiation induced inflammatory response in the lung, characterized by leukocyte infiltration and vascular changes, is an important contributing factor for the injury. Therefore, countermeasure agents to attenuate radiation induced inflammatory response are considered as an important approach to prevent chronic lung damage. Although Amifostine, the widely used, FDA approved radio-protector, has been found to reduce the radiation induced pneumonitis during radiation therapy of non-small cell lung carcinoma, its application during mass and field exposure is limited due to associated toxicity and ineffectiveness with the oral administration. The amifostine analogue (DRDE-30) overcomes this limitation as it is orally effective in reducing the mortality of whole body irradiated mice. The current study was undertaken to investigate the potential of DRDE-30 to ameliorate radiation induced lung damage. DRDE-30 was administered intra-peritoneally, 30 minutes prior to 13.5 Gy thoracic (60Co-gamma) radiation in C57BL/6 mice. Broncheo- alveolar lavage fluid (BALF) and lung tissues were harvested at 12 and 24 weeks post irradiation for studying inflammatory and fibrotic markers. Lactate dehydrogenase (LDH) leakage, leukocyte count and protein content in BALF were used as parameters to evaluate lung vascular permeability. Inflammatory cell signaling (p38 phosphorylation) and anti-oxidant status (MnSOD and Catalase level) was assessed by Western blot, while X-ray CT scan, H & E staining and trichrome staining were done to study the lung architecture and collagen deposition. Irradiation of the lung increased the total protein content, LDH leakage and total leukocyte count in the BALF, reflecting endothelial barrier dysfunction. These disruptive effects were significantly abolished by DRDE-30, which appear to be linked to the DRDE-30 mediated abrogation of activation of the redox-sensitive pro- inflammatory signaling cascade, the MAPK pathway. Concurrent administration of DRDE-30 with radiation inhibited radiation-induced oxidative stress by strengthening the anti-oxidant defense system and abrogated p38 mitogen-activated protein kinase activation, which was associated with reduced vascular leak and macrophage recruitment to the lungs. Histopathological examination (by H & E staining) of the lung showed radiation-induced inflammation of the lungs, characterized by cellular infiltration, interstitial oedema, alveolar wall thickening, perivascular fibrosis and obstruction of alveolar spaces, which were all reduced by pre-administration of DRDE-30. Structural analysis with X-ray CT indicated lung architecture (linked to the degree of opacity) comparable to un-irradiated mice that correlated well with the lung morphology and reduced collagen deposition. Reduction in the radiation-induced inflammation and fibrosis brought about by DRDE-30 resulted in a profound increase in animal survival (72 % in the combination vs 24% with radiation) observed at the end of 24 weeks following irradiation. These findings establish the potential of the Amifostine analogue, DRDE-30, in reducing radiation induced pulmonary injury by attenuating the inflammatory and fibrotic responses.

Keywords: amifostine, fibrosis, inflammation, lung injury radiation

Procedia PDF Downloads 506
2784 The Phatic Function and the Socializing Element of Personal Blogs

Authors: Emelia Noronha, Milind Malshe

Abstract:

The phatic function of communication is a vital element of any conversation. This research paper looks into this function with respect to personal blogs maintained by Indian bloggers. This paper is a study into the phenomenon of phatic communication maintained by bloggers through their blogs. Based on a linguistic analysis of the posts of twenty eight Indian bloggers, writing in English, studied over a period of three years, the study indicates that though the blogging phenomenon is not conversational in the same manner as face-to-face communication, it does make ample provision for feedback that is conversational in nature. Ordinary day to day offline conversations use conventionalized phatic utterances; those on the social media are in a perpetual mode of innovation and experimentation in order to sustain contact with its readers. These innovative methods and means are the focus of this study. Though the personal blogger aims to chronicle his/her personal life through the blog, the socializing function is crucial to these bloggers. In comparison to the western personal blogs which focus on the presentation of the ‘bounded individual self’, we find Indian personal bloggers engage in the presentation of their ‘social selves’. These bloggers yearn to reach out to the readers on the internet and the phatic function serves to initiate, sustain and renew social ties on the blogosphere thereby consolidating the social network of readers and bloggers.

Keywords: personal blogs, phatic, social-selves, blog readers

Procedia PDF Downloads 357
2783 Institutional Legitimacy and Professional Boundary: Western Medicine-Trained Doctors' Attitudes and Behaviors toward Traditional Chinese Medicine

Authors: Xiaoli Tian

Abstract:

The recent growing interest in and use of complementary and alternative medicine is a global phenomenon. In many regions, traditional Chinese medicine (TCM), an important type of complementary and alternative medicine, has been formally integrated into the healthcare system. Consequently, today’s doctors face increasing requests and questions from patients regarding TCM. However, studies of TCM focus either on patients’ approaches to TCM and Western medicine (WM) or on the politics involved in the institutionalization of TCM. To our knowledge, sociological studies on doctors’ attitudes toward TCM are rare. This paper compares the receptivity of WM-trained Chinese doctors to TCM in Hong Kong and mainland China, in order to evaluate the interplay between professional training and dominant medical paradigms, on the one hand, and institutional legitimacy and government and client pressures to accept TCM, on the other. Based on survey and in-depth interviews with Western-medicine doctors in Hong Kong and mainland China, this research finds that: there is major difference between Western-medicine doctors’ attitude toward traditional Chinese medicine (TCM) in Hong Kong and mainland China. Doctors in Hong Kong are still suspicious toward TCM, no matter if they have exposure to TCM or not. Even some doctors who have much knowledge about TCM, such as got a diploma or certificate in TCM or tried TCM themselves, are still suspicious. This is because they hold up to the ideal of 'evidence-based medicine' and emphasize the kind of evidence based on randomized controlled trial (RCT). To Western medicine doctors in Hong Kong, this is the most reliable type of evidence for any medical practice, but it is lacking in TCM. This is the major reason why they do not trust TCM and would not refer patients to TCM in clinical practices. In contrast, western medicine doctors in mainland China also know about randomized controlled trial (RCT) and believe that’s the most reliable evidence, but they tend to think experience-based evidence is also reliable. On this basis, they think TCM also has clinical effectiveness. Research findings reveal that legitimacy based on institutional arrangements is a relevant factor, but how doctors understand their professional boundaries also play an important role. Doctors in Hong Kong are more serious about a strict professional boundary between Western medicine and TCM because they benefited from it, such as a very prestigious status and high income. Doctors in mainland China tend to be flexible about professional boundaries because they never benefited from a well-defined strict professional boundary. This is related to a long history of the lack of professionalism in China but is also aggravated by the increasing state support of TCM.

Keywords: evidence-based decision-making, institutional legitimacy, professional behavior, traditional Chinese medicine

Procedia PDF Downloads 179
2782 Spatiotemporal Analysis of Land Surface Temperature and Urban Heat Island Evaluation of Four Metropolitan Areas of Texas, USA

Authors: Chunhong Zhao

Abstract:

Remotely sensed land surface temperature (LST) is vital to understand the land-atmosphere energy balance, hydrological cycle, and thus is widely used to describe the urban heat island (UHI) phenomenon. However, due to technical constraints, satellite thermal sensors are unable to provide LST measurement with both high spatial and high temporal resolution. Despite different downscaling techniques and algorithms to generate high spatiotemporal resolution LST. Four major metropolitan areas in Texas, USA: Dallas-Fort Worth, Houston, San Antonio, and Austin all demonstrate UHI effects. Different cities are expected to have varying SUHI effect during the urban development trajectory. With the help of the Landsat, ASTER, and MODIS archives, this study focuses on the spatial patterns of UHIs and the seasonal and annual variation of these metropolitan areas. With Gaussian model, and Local Indicators of Spatial Autocorrelations (LISA), as well as data fusion methods, this study identifies the hotspots and the trajectory of the UHI phenomenon of the four cities. By making comparison analysis, the result can help to alleviate the advent effect of UHI and formulate rational urban planning in the long run.

Keywords: spatiotemporal analysis, land surface temperature, urban heat island evaluation, metropolitan areas of Texas, USA

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2781 The Corona is a Double Virus: The Effect of the Corona on Domestic Violence

Authors: B. Waked Najar

Abstract:

Since the spread of Covid- 19, Israel and other countries suffer from lockdowns and social distance, which impose different kinds of restrictions. On the one side, many organization closed and unemployment increased, bringing about economic problems and distress. On the other side, family ties were damaged due to inability to sustain close relations with some family members and too frequent interactions with others. Unfortunately, conflicts within families, controlling behavior and domestic violence appear more often. Purpose: to examine the phenomenon of domestic violence and its expansion during the Covid-19 crisis, to propose and classify strategies of dealing with it, including encouragement of public systems providing more information and support to domestic violence victims. Methodology: the author strives to reveal methods of supporting domestic violence victims through public and private treatment organizations. The author interviewed battered women and families who experienced violence during the Covid-19 crisis. Findings: victims of domestic violence often feel isolated and helpless. It is a real challenge to track and support them, especially in the traditional minorities’ communities. Research limitations: Many families refused to be interviewed because they did not want to be exposed to the community, especially religious families. Originality: research is aimed to examine a phenomenon of domestic violence during the Covid-19 crisis and methods of help and support the victims, which is not a common theme of research during the pandemic.

Keywords: violence, coronavirus, domestic violence, influence

Procedia PDF Downloads 92
2780 Current Status of Scaled-Up Synthesis/Purification and Characterization of a Potentially Translatable Tantalum Oxide Nanoparticle Intravenous CT Contrast Agent

Authors: John T. Leman, James Gibson, Peter J. Bonitatibus

Abstract:

There have been no potential clinically translatable developments of intravenous CT contrast materials over decades, and iodinated contrast agents (ICA) remain the only FDA-approved media for CT. Small molecule ICA used to highlight vascular anatomy have weak CT signals in large-to-obese patients due to their rapid redistribution from plasma into interstitial fluid, thereby diluting their intravascular concentration, and because of a mismatch of iodine’s K-edge and the high kVp settings needed to image this patient population. The use of ICA is also contraindicated in a growing population of renally impaired patients who are hypersensitive to these contrast agents; a transformative intravenous contrast agent with improved capabilities is urgently needed. Tantalum oxide nanoparticles (TaO NPs) with zwitterionic siloxane polymer coatings have high potential as clinically translatable general-purpose CT contrast agents because of (1) substantially improved imaging efficacy compared to ICA in swine/phantoms emulating medium-sized and larger adult abdomens and superior thoracic vascular contrast enhancement of thoracic arteries and veins in rabbit, (2) promising biological safety profiles showing near-complete renal clearance and low tissue retention at 3x anticipated clinical dose (ACD), and (3) clinically acceptable physiochemical parameters as concentrated bulk solutions(250-300 mgTa/mL). Here, we review requirements for general-purpose intravenous CT contrast agents in terms of patient safety, X-ray attenuating properties and contrast-producing capabilities, and physicochemical and pharmacokinetic properties. We report the current status of a TaO NP-based contrast agent, including chemical process technology developments and results of newly defined scaled-up processes for NP synthesis and purification, yielding reproducible formulations with appropriate size and concentration specifications. We discuss recent results of recent pre-clinical in vitro immunology, non-GLP high dose tolerability in rats (10x ACD), non-GLP long-term biodistribution in rats at 3x ACD, and non-GLP repeat dose in rats at ACD. We also include a discussion of NP characterization, in particular size-stability testing results under accelerated conditions (37C), and insights into TaO NP purity, surface structure, and bonding of the zwitterionic siloxane polymer coating by multinuclear (1H, 13C, 29Si) and multidimensional (2D) solution NMR spectroscopy.

Keywords: nanoparticle, imaging, diagnostic, process technology, nanoparticle characterization

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2779 Second Order Journalism: A Study of Selected Niche Authorities on Facebook and Twitter

Authors: Yvonne Dedzo

Abstract:

Social media has become a powerful tool in bridging the distance between individuals regardless of their location. It has become a convenient platform for public discussion and, consequently, generated the phenomenon of citizen journalists who have become both proactive and reactive participants in the dissemination of news, information and other epochal and historical events. This phenomenon has fueled the growth of niche authorities who deliver exceptional democratically consequential information online. This study, therefore, investigates how some selected niche authorities maintain their status on social media. Using the selective processes theory, the study further interrogates the information shared by niche authorities and further analyses the extent to which a public interest-altruistic motive or personal interest-self-serving motive drives their agenda of new sharing and usage. Through cyber-ethnography and, qualitative content analysis and semi-structured interviews, data was gathered and analysed from the posts of two purposely selected niche authorities on Facebook and Twitter. The findings indicate that niche authorities maintain their status by being consistent, prompt, informative, resourceful and interactive in their postings on the social media platform. The study also discovered that even though niche authorities are motivated by both public interest-altruism and interest-self-serving, the latter had a higher of motivation than the former.

Keywords: social medida, citizen journalist, niche authorities, selective processes theory

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2778 How Unpleasant Emotions, Morals and Normative Beliefs of Severity Relate to Cyberbullying Intentions

Authors: Paula C. Ferreira, Ana Margarida Veiga Simão, Nádia Pereira, Aristides Ferreira, Alexandra Marques Pinto, Alexandra Barros, Vitor Martinho

Abstract:

Cyberbullying is a phenomenon of worldwide concern regarding children and adolescents’ mental health and risk behavior. Bystanders of this phenomenon can help diminish the incidence of this phenomenon if they engage in pro-social behavior. However, different social-cognitive and affective bystander reactions may surface because of the lack of contextual information and emotional cues in cyberbullying situations. Hence, this study investigated how cyberbullying bystanders’ unpleasant emotions could be related to their personal moral beliefs and their behavioral intentions to cyberbully or defend the victim. It also proposed to investigate how their normative beliefs of perceived severity about cyberbullying behavior could be related to their personal moral beliefs and their behavioral intentions. Three groups of adolescents participated in this study, namely a first of group 402 students (5th – 12th graders; Mage = 13.12; SD = 2.19; 55.7% girls) to compute explorative factorial analyses of the instruments used; a second group of 676 students (5th – 12th graders; Mage = 14.10; SD = 2.74; 55.5% were boys) to run confirmatory factor analyses; and a third group (N = 397; 5th – 12th graders; Mage = 13.88 years; SD = 1.45; 55.5% girls) to perform the main analyses to test the research hypotheses. Self-report measures were used, such as the Personal moral beliefs about cyberbullying behavior questionnaire, the Normative beliefs of perceived severity about cyberbullying behavior questionnaire, the Unpleasant emotions about cyberbullying incidents questionnaires, and the Bystanders’ behavioral intentions in cyberbullying situations questionnaires. Path analysis results revealed that unpleasant emotions were mediators of the relationship between adolescent cyberbullying bystanders’ personal moral beliefs and their intentions to help the victims in cyberbullying situations. Moreover, adolescent cyberbullying bystanders’ normative beliefs of gravity were mediators of the relationship between their personal moral beliefs and their intentions to cyberbully others. These findings provide insights for the development of prevention and intervention programs that promote social and emotional learning strategies as a means to prevent and intervene in cyberbullying.

Keywords: cyberbullying, normative beliefs of perceived severity, personal moral beliefs, unpleasant emotions

Procedia PDF Downloads 211
2777 Identification of New Familial Breast Cancer Susceptibility Genes: Are We There Yet?

Authors: Ian Campbell, Gillian Mitchell, Paul James, Na Li, Ella Thompson

Abstract:

The genetic cause of the majority of multiple-case breast cancer families remains unresolved. Next generation sequencing has emerged as an efficient strategy for identifying predisposing mutations in individuals with inherited cancer. We are conducting whole exome sequence analysis of germ line DNA from multiple affected relatives from breast cancer families, with the aim of identifying rare protein truncating and non-synonymous variants that are likely to include novel cancer predisposing mutations. Data from more than 200 exomes show that on average each individual carries 30-50 protein truncating mutations and 300-400 rare non-synonymous variants. Heterogeneity among our exome data strongly suggest that numerous moderate penetrance genes remain to be discovered, with each gene individually accounting for only a small fraction of families (~0.5%). This scenario marks validation of candidate breast cancer predisposing genes in large case-control studies as the rate-limiting step in resolving the missing heritability of breast cancer. The aim of this study is to screen genes that are recurrently mutated among our exome data in a larger cohort of cases and controls to assess the prevalence of inactivating mutations that may be associated with breast cancer risk. We are using the Agilent HaloPlex Target Enrichment System to screen the coding regions of 168 genes in 1,000 BRCA1/2 mutation-negative familial breast cancer cases and 1,000 cancer-naive controls. To date, our interim analysis has identified 21 genes which carry an excess of truncating mutations in multiple breast cancer families versus controls. Established breast cancer susceptibility gene PALB2 is the most frequently mutated gene (13/998 cases versus 0/1009 controls), but other interesting candidates include NPSR1, GSN, POLD2, and TOX3. These and other genes are being validated in a second cohort of 1,000 cases and controls. Our experience demonstrates that beyond PALB2, the prevalence of mutations in the remaining breast cancer predisposition genes is likely to be very low making definitive validation exceptionally challenging.

Keywords: predisposition, familial, exome sequencing, breast cancer

Procedia PDF Downloads 489