Search results for: disclosure of family origins
2227 Clinical Empathy: The Opportunity to Offer Optimal Treatment to People with Serious Illness
Authors: Leonore Robieux, Franck Zenasni, Marc Pocard, Clarisse Eveno
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Empirical data in health psychology studies show the necessity to consider the doctor-patient communication and its positive impact on outcomes such as patients’ satisfaction, treatment adherence, physical and psychological wellbeing. In this line, the present research aims to define the role and determinants of an effective doctor–patient communication during the treatment of patients with serious illness (peritoneal carcinomatosis). We carried out a prospective longitudinal study including patients treated for peritoneal carcinomatosis of various origins. From November 2016, to date, data were collected using validated questionnaires at two times of evaluation: one month before the surgery (T0) and one month after (T1). Thus, patients reported their (a) anxiety and depression levels, (b) standardized and individualized quality of life and (c) how they perceived communication, attitude and empathy of the surgeon. 105 volunteer patients (Mean age = 58.18 years, SD = 10.24, 62.2% female) participated to the study. PC arose from rare diseases (14%), colorectal (38%), eso-gastric (24%) and ovarian (8%) cancer. Three groups are defined according to the severity of their pathology and the treatment offered to them: (1) important surgical treatment with the goal of healing (53%), (2) repeated palliative surgical treatment (17%), and (3) the patients recused for surgical treatment, only palliative approach (30%). Results are presented according to Baron and Kenny recommendations. The regressions analyses show that only depression and anxiety are sensitive to the communication and empathy of surgeon. The main results show that a good communication and high level of empathy at T0 and T1 limit depression and anxiety of the patients in T1. Results also indicate that the severity of the disease modulates this positive impact of communication: better is the communication the less are the level of depression and anxiety of the patients. This effect is higher for patients treated for the more severe disease. These results confirm that, even in the case severe disease a good communication between patient and physician remains a significant factor in promoting the well-being of patients. More specific training need to be developed to promote empathic care.Keywords: clinical empathy, determinants, healthcare, psychological wellbeing
Procedia PDF Downloads 1222226 Invisible Aircraft Using Plasma Display
Authors: C. Ramamoorthy, R. Ranga Raj
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In olden days the Ramayana epic depicts the usage of invisible and fuel less aircraft named pushpavimana. The change of color in the reptile family chameleon paves way for the concept of color change phenomenon available in nature. In present scenario the aircrafts are visible so it is easily identified. So there are too many problems from the threatening. Research is still going on about this problem by using Liquid Crystal Display (LCD). Objective of this paper is to find much better to use the concept of invisible aircraft using plasma display through Couple Charged Device camera (CCD), which has a high resolution and can be used for many purposes like spying, defense, etc. Moreover it is cost wise cheap then, escaping the foe viewing.Keywords: CCD camera, chameleon, invisible, plasma display
Procedia PDF Downloads 4032225 Let-7 Mirnas Regulate Inflammatory Cytokine Production in Bovine Endometrial Cells after Lipopolysaccharide Challenge by Targeting TNFα
Authors: S. Ibrahim, D. Salilew-Wondim, M. Hoelker, C. Looft, E. Tholen, C. Grosse-Brinkhaus, K. Schellander, C. Neuhoff, D. Tesfaye
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Bovine endometrial cells appear to have a key role in innate immune defense of the female genital tract. A better understanding of molecular changes in microRNAs (miRNAs) and their target genes expression may identify reliable prognostic indicators for cows that will resolve inflammation and resume cyclicity. In the current study, we hypothesized that let-7 miRNAs family has a primary role in the innate immune defence of the endometrium tissue against bacterial infection, which is partly achieved via regulating mRNA stability of pro-inflammatory cytokines at the post-transcriptional level. Therefore, we conducted two experiments. In the first experiment, primary bovine endometrial cells were challenged with clinical (3.0 μg/ml) and sub-clinical (0.5 μg/ml) doses of lipopolysaccharide (LPS) for 24h. In the 2nd experiment, we have investigated the potential role of let-7 miRNAs (let-7a and let-7f) using gain and loss of function approaches. Additionally, tumor necrosis factor alpha (TNFα), transforming growth factor beta 1 induced transcript 1 (TGFB1I1) and serum deprivation response (SDPR) genes were validated using reporter assay. Here we addressed for the first time that let-7 miRNAs have a precise role in bovine endometrium, where LPS dysregulated let-7 miRNAs family expression was associated with an increased pro-inflammatory cytokine level by directly/indirectly targeting the TNFα, interleukin 6 (IL6), nuclear factor kappa-light-chain enhancer of activated B cells (NFκB), TGFβ1I1 and SDPR genes. To our knowledge, this is the first study showing that TNFα, TGFβ1I1 and SDPR were identified and validated as novel let-7 miRNAs targets and could have a distinct role in inflammatory immune response of LPS challenged bovine endometrial cells. Our data represent a new finding by which uterine homeostasis is maintained through functional regulation of let-7a by down-regulation of pro-inflammatory cytokines expression (TNFα and IL6) at the mRNA and protein levels. These findings suggest that LPS serves as a negative regulator of let-7 miRNAs expression and provides a mechanism for the persistent pro-inflammatory phenotype, which is a hallmark of bovine subclinical endometritis.Keywords: bovine endometrial cells, let-7, lipopolysaccharide, pro-inflammatory cytokines
Procedia PDF Downloads 3802224 An Effective Preventive Program of HIV/AIDS among Hill Tribe Youth, Thailand
Authors: Tawatchai Apidechkul
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This operational research was conducted and divided into two phases: the first phase aimed to determine the risk behaviors used a cross-sectional study design, following by the community participatory research design to develop the HIV/AIDS preventive model among the Akha youths. The instruments were composed of completed questionnaires and assessment forms that were tested for validity and reliability before use. Study setting was Jor Pa Ka and Saen Suk Akha villages, Mae Chan District, Chiang Rai, Thailand. Study sample were the Akha youths lived in the villages. Means and chi-square test were used for the statistical testing. Results: Akha youths in the population mobilization villages live in agricultural families with low income and circumstance of narcotic drugs. The average age was 16 (50.00%), 51.52% Christian, 48.80% completed secondary school, 43.94% had annual family income of 30,000-40,000 baht. Among males, 54.54% drank, 39.39% smoked, 7.57% used amphetamine, first sexual intercourse reported at 14 years old, 50.00% had 2-5 partners, 62.50% had unprotected sex (no-condom). Reasons of unprotected sex included not being able to find condom, unawareness of need to use condoms, and dislike. 28.79% never been received STI related information, 6.06% had STI. Among females, 15.15% drank, 28.79% had sexual intercourse and had first sexual intercourse less than 15 year old. 40.00% unprotected sex (no-condom), 10.61% never been received STI related information, and 4.54% had STI. The HIV/AIDS preventive model contained two components. Peer groups among the youths were built around interests in sports. Improving knowledge would empower their capability and lead to choices that would result in HIV/AIDS prevention. The empowering model consisted of 4 courses: a. human reproductive system and its hygiene, b. risk-avoid skills, family planning, and counseling techniques, c. HIV/AIDS and other STIs, d. drugs and related laws and regulations. The results of the activities found that youths had a greater of knowledge and attitude levels for HIV/AIDS prevention with statistical significance (χ2-τεστ= 12.87, p-value= 0.032 and χ2-τεστ= 9.31, p-value<0.001 respectively). A continuous and initiative youths capability development program is the appropriate process to reduce the spread of HIV/AIDS in youths, particularly in the population who have the specific of language and culture.Keywords: AIV/AIDS, preventive program, effective, hill tribe
Procedia PDF Downloads 3702223 Delivering Comprehensive Sexuality Education to Students with Disability in Special Schools in Fiji
Authors: Sera Ratu, Jane Chivers, Jessica Botfield
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Objectives: The Reproductive and Family Health Association of Fiji (RFHAF) and Family Planning Australia are working together to introduce quality comprehensive sexuality education into Special Schools - which are schools for students with disability. Sexual and reproductive health information is needed by students with disability attending Special Schools. Children with special needs go through the same changes as able-bodied children. The Fiji Disability Inclusion project is a three-year project that started in 2015. One of its objectives is to increase exposure to comprehensive sexuality education for primary and secondary school students with disability. Method: A baseline survey was undertaken with 72 students with disability; it included questions about puberty, sexual health, and relationships. 34 teachers also completed a survey about their views of sexuality education and confidence in delivering it. Consent was facilitated by running information sessions with teachers and parents. The process of gaining consent and completing the surveys was designed to be accessible to students with disability. Given the sensitive nature of reproductive and sexual health, and the potential vulnerability of young people with disability, ethical considerations were important in the design and implementation of the surveys, and ethics approval was obtained. Results: Findings from the surveys suggest that students have mixed knowledge and awareness of sexual health issues. Most teachers reported a need for their students to learn about sexuality and relationships. A positive outcome of conducting the surveys was that RFHAF staff reported they have developed skills and confidence in communicating with young people with a range of disabilities. They have a greater understanding of what students want to learn, and what teachers feel is important. Conclusions: These survey findings will assist RFHAF in developing comprehensive sexuality education programs that are relevant and accessible to students in Special Schools, and to develop an appropriate professional development program for teachers. Findings may also be applicable to other Special Schools when developing sexuality education programs. The education programs developed for students as part of this project, and the professional development programs for teachers, may be relevant to other countries.Keywords: comprehensive sexuality education, delivery, sexual and reproductive health and rights, special schools
Procedia PDF Downloads 3372222 Design of a New Vegetable Snack
Authors: Patricia Calvo, Francisco M. Sánchez, María J. Rodríguez
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Nowadays, food intake is becoming more irregular due to changes in family organization and lifestyle. Snacking is part of the day-to-day lives of people, however, most of the snacks have a high saturated fat, salt and refined sugar content; these dietary factors are believed to have negative health consequences. For this reason, there has been an increase in consumer demand for healthy, natural and convenient foods, so the development of a significant portion of new products focuses on improving the nutritional value of food snacks through modification its nutritional composition. In this paper, a new product made from vegetables has been designed. This new product would be an ideal food format to include ingredients with positive health benefits.Keywords: healthy, pepper, dried, carotenes, polyphenols
Procedia PDF Downloads 3782221 Sexual Health And Male Fertility: Improving Sperm Health With Focus On Technology
Authors: Diana Peninger
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Over 10% of couples in the U.S. have infertility problems, with roughly 40% traceable to the male partner. Yet, little attention has been given to improving men’s contribution to the conception process. One solution that is showing promise in increasing conception rates for IVF and other assisted reproductive technology treatments is a first-of-its-kind semen collection that has been engineered to mitigate sperm damage caused by traditional collection methods. Patients are able to collect semen at home and deliver to clinics within 48 hours for use in fertility analysis and treatment, with less stress and improved specimen viability. This abstract will share these findings along with expert insight and tips to help attendees understand the key role sperm collection plays in addressing and treating reproductive issues, while helping to improve patient outcomes and success. Our research was to determine if male reproductive outcomes can be increased by improving sperm specimen health with a focus on technology. We utilized a redesigned semen collection cup (patented as the Device for Improved Semen Collection/DISC—U.S. Patent 6864046 – known commercially as a ProteX) that met a series of physiological parameters. Previous research demonstrated significant improvement in semen perimeters (motility forward, progression, viability, and longevity) and overall sperm biochemistry when the DISC is used for collection. Animal studies have also shown dramatic increases in pregnancy rates. Our current study compares samples collected in the DISC, next-generation DISC (DISCng), and a standard specimen cup (SSC), dry, with the 1 mL measured amount of media and media in excess ( 5mL). Both human and animal testing will be included. With sperm counts declining at alarming rates due to environmental, lifestyle, and other health factors, accurate evaluations of sperm health are critical to understanding reproductive health, origins, and treatments of infertility. An increase in the health of the sperm as measured by extensive semen parameter analysis and improved semen parameters stable for 48 hours, expanding the processing time from 1 hour to 48 hours were also demonstrated.Keywords: reprodutive, sperm, male, infertility
Procedia PDF Downloads 1292220 Parenting Practices, Challenges and Prospectus of Working Mothers in Arsi University: Oromia Regional State, Ethiopia
Authors: Endalew Fufa Kufi
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Every married person aspires to be a parent regardless of the situation in which s/he lives. Such aspiration meets with reality when the destined parent is able to give adequate supports and services to his/her children, whether the latter are got by birth or through adoption. The adequacy of services parents provide their children is both enriched and tempted by the work on which they involve. On the one hand, parents need to work and earn a living in order to support their family. On the other hand, they must spend most of their time outside home to do the work, which shortens the time and might they spare to care for their children. Where the sufficiency of services parents owe their children could be ascertained by in terms of life skills, physical care and related provisions, the role of working fathers and mothers in providing such supports could be diverse across cultures and work traditions. Hence, this research deals with the investigation of working mothers’ parental practices, challenges they face in providing parental services and the implication for the future progress of the parents and their children. Target of the study will be Arsi University in Oromia Regional State of Ethiopia. Descriptive survey design in holding the research, and data for the research will be collected in the form of experiential self-report from 150 working mothers selected from the entire working women population of Colleges of Agriculture and Environmental Studies and College of Health Sciences through stratified random-sampling. Instruments of data collection will be closed and open-ended questionnaire. Complementary data will also be collected from purposively selected samples through semi-structured interview. Data for the research will be collected through questionnaire first and then through interview. Data analysis will also follow the same procedure. The collected data will systematically be organized and statistically and thematically analyzed in order to come up with indicative findings. The overarching thesis is that, working mothers in the study area bear a lot of responsibilities both at home and at work place which leave them very little time for parenting services. Unless due attention is given to the way they can spare time for their children, they are more likely to be tense between work-life and family care services, which tempt them in different directions.Keywords: challenges, mothers, practices, university, working
Procedia PDF Downloads 3002219 Gender, Sexual Diversity and Professional Practice Learning: Promoting the Equality of University Students
Authors: Caroline Bradbury-Jones, Maria Clark, Eleanor Molloy, Nicki Ward
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Background: Significant developments in the protection of Lesbian, Gay, Bisexual, Transgender and Queer (LGBTQ) rights culminated in their inclusion in the Equality Act 2010. This provides legal protection against discrimination including the Public Sector Equality Duty requiring public bodies to consider all individuals when carrying out their day-to-day work. In the UK, whilst the Higher Education sector has made some commitment to eliminating discrimination and addressing LGBTQ inclusivity, there are two particular problems specifically affecting students on professional programmes: -All students will come into contact with LGBTQ patients/clients/students and need to be equipped to respond appropriately to their diverse needs but evidence suggests that this is not always the case. -Many LGBTQ students have specific concerns on professional placements; often ‘going back in the closet’ or feeling uncertain how to respond to questions about their personal lives and being reticent to challenge discrimination against LGBTQ patients/clients/students for fear of reprisal. Study aim: To investigate how best to prepare all students to deal with the issue of gender and sexual diversity and to support LGBTQ students in negotiating (non) disclosure in practice placements. Methods: This multi-method study was conducted in 2017 in the UK. It comprised a student survey, focus group interview with students and a national benchmarking exercise. Findings: Preliminary findings are that there is considerable variation across professional programmes regarding the preparation of students to respond to LGBTQ issues. Similarly, there is considerable difference between the level of preparedness experienced by students irrespective of whether they identify as LGBTQ. Discussion: Nationally there are a number of ‘best practice’ examples that we share in this presentation. These contain important details and guidance about how to better prepare university students for professional practice, and to contribute to eliminating discrimination and addressing LGBTQ inclusivity. Conclusions: The presentation will appeal to delegates who are interested in the equality agenda regarding LGBTQ people. The study findings will be discussed and debated to explore their impact on higher education and learning and to identify ways to integrate best practice into professional curricula across the UK and beyond.Keywords: diversity, equality, practice, sexuality, students, university
Procedia PDF Downloads 1842218 Closing the Front Door of Child Protection: Rethinking Mandated Reporting
Authors: Miriam Itzkowitz, Katie Olson
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Through an interdisciplinary and trauma-responsive lens, this article reviews the legal and social history of mandated reporting laws and family separation, examines the ethical conundrum of mandated reporting as it relates to evidence-based practice, and discusses alternatives to mandated reporting as a primary prevention strategy. Using existing and emerging data, the authors argue that mandated reporting as a universal strategy contributes to racial disproportionality in the child welfare system and that anti-racist practices should begin with an examination of our reliance on mandated reporting.Keywords: child welfare, education, mandated reporting, racial disproportionality, trauma
Procedia PDF Downloads 3532217 The Quality of Life, Situations and Emerging Concerns of Parents of Children with Neurodevelopmental Disorders in Philippine Children's Medical Center during the Covid-19 Pandemic
Authors: Annelyn Fatima Lopez, Ermenilda Avendano, Aileen Marie Vargas, Lara Baylon, Rorilee Angeles
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BACKGROUND: The COVID-19 resulted in a public health emergency and quarantine measures which may negatively impact psychosocial and environmental aspects of vulnerable populations. OBJECTIVES: This study intended to determine the quality of life, situations and emerging concerns of parents of children with neurodevelopmental disorders during the ongoing coronavirus pandemic. METHODOLOGY: Parents of patients seen in the PCMC Neurodevelopmental Pediatrics OPD clinic were recruited to fill out questionnaires on parent and child characteristics, survey on situations and emerging concerns during the coronavirus pandemic and WHOQOL-BREF (Filipino version) for parental quality of life. RESULTS: Data from 115 respondents showed a lower score in the environmental domain. The child characteristics that are statistically comparable with the QoL scores include sex, severity of ID and ADHD while the parent characteristics that are statistically comparable with the QoL scores include educational attainment, monthly family income, father’s employment status and family structure (P-value <0.05). Most respondents reported physical distancing (82.61%) and curfew (80.87%) as measures implemented due to the pandemic. Inability to access essential services (43.48-74.48%) were further compounded by limited financial resources (51.30%) and public transport (60%). Government responses received include quarantine pass (90.43%), food allowance or relief package (86.09%), disinfection (60.87%), DSWD-SAP (42.61%) and cash distribution (41.74%). Concerns encountered include socio-environmental issues (i.e. no available transportation, effect on the ability to earn, inadequate food/medicine rations, disruptions in basic social services) and patient concerns (i.e. access to education, medical, developmental and behavioral services, nutrition and sleep). RECOMMENDATIONS: Programs and policies should be planned accordingly to provide improvement of quality of life for both parents and the child with a neurodevelopmental disorder.Keywords: covid-19, neurodevelopmental disorder, parental quality of life, whoqol-bref
Procedia PDF Downloads 2102216 The Impact of the Plagal Cadence on Nineteenth-Century Music
Authors: Jason Terry
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Beginning in the mid-nineteenth century, hymns in the Anglo-American tradition often ended with the congregation singing ‘amen,’ most commonly set to a plagal cadence. While the popularity of this tradition is well-known still today, this research presents the origins of this custom. In 1861, Hymns Ancient & Modern deepened this convention by concluding each of its hymns with a published plagal-amen cadence. Subsequently, hymnals from a variety of denominations throughout Europe and the United States heavily adopted this practice. By the middle of the twentieth century the number of participants singing this cadence had suspiciously declined; however, it was not until the 1990s that the plagal-amen cadence all but disappeared from hymnals. Today, it is rare for songs to conclude with the plagal-amen cadence, although instrumentalists have continued to regularly play a plagal cadence underneath the singers’ sustained finalis. After examining a variety of music theory treatises, eighteenth-century newspaper articles, manuscripts & hymnals from the last five centuries, and conducting interviews with a number of scholars around the world, this study presents the context of the plagal-amen cadence through its history. The association of ‘amen’ and the plagal cadence was already being discussed during the late eighteenth century, and the plagal-amen cadence only grew in attractiveness from that time forward, most notably in the nineteenth and twentieth centuries. Throughout this research, the music of Thomas Tallis, primarily through his Preces and Responses, is reasonably shown to be the basis for the high status of the plagal-amen cadence in nineteenth- and twentieth-century society. Tallis’s immediate influence was felt among his contemporary English composers as well as posterity, all of whom were well-aware of his compositional styles and techniques. More importantly, however, was the revival of his music in nineteenth-century England, which had a greater impact on the plagal-amen tradition. With his historical title as the father of English cathedral music, Tallis was favored by the supporters of the Oxford Movement. Thus, with society’s view of Tallis, the simple IV–I cadence he chose to pair with ‘amen’ attained a much greater worth in the history of Western music. A musical device such as the once-revered plagal-amen cadence deserves to be studied and understood in a more factual light than has thus far been available to contemporary scholars.Keywords: amen cadence, Plagal-amen cadence, singing hymns with amen, Thomas Tallis
Procedia PDF Downloads 2332215 Periodicity of Solutions to Impulsive Equations
Authors: Jin Liang, James H. Liu, Ti-Jun Xiao
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It is known that there exist many physical phenomena where abrupt or impulsive changes occur either in the system dynamics, for example, ad-hoc network, or in the input forces containing impacts, for example, the bombardment of space antenna by micrometeorites. There are many other examples such as ultra high-speed optical signals over communication networks, the collision of particles, inventory control, government decisions, interest changes, changes in stock price, etc. These are impulsive phenomena. Hence, as a combination of the traditional initial value problems and the short-term perturbations whose duration can be negligible in comparison with the duration of the process, the systems with impulsive conditions (i.e., impulsive systems) are more realistic models for describing the impulsive phenomenon. Such a situation is also suitable for the delay systems, which include some of the past states of the system. So far, there have been a lot of research results in the study of impulsive systems with delay both in finite and infinite dimensional spaces. In this paper, we investigate the periodicity of solutions to the nonautonomous impulsive evolution equations with infinite delay in Banach spaces, where the coefficient operators (possibly unbounded) in the linear part depend on the time, which are impulsive systems in infinite dimensional spaces and come from the optimal control theory. It was indicated that the study of periodic solutions for these impulsive evolution equations with infinite delay was challenging because the fixed point theorems requiring some compactness conditions are not applicable to them due to the impulsive condition and the infinite delay. We are happy to report that after detailed analysis, we are able to combine the techniques developed in our previous papers, and some new ideas in this paper, to attack these impulsive evolution equations and derive periodic solutions. More specifically, by virtue of the related transition operator family (evolution family), we present a Poincaré operator given by the nonautonomous impulsive evolution system with infinite delay, and then show that the operator is a condensing operator with respect to Kuratowski's measure of non-compactness in a phase space by using an Amann's lemma. Finally, we derive periodic solutions from bounded solutions in view of the Sadovskii fixed point theorem. We also present a relationship between the boundedness and the periodicity of the solutions of the nonautonomous impulsive evolution system. The new results obtained here extend some earlier results in this area for evolution equations without impulsive conditions or without infinite delay.Keywords: impulsive, nonautonomous evolution equation, optimal control, periodic solution
Procedia PDF Downloads 2532214 Counselling Families with Special Needs Children: Problems and Prospect: A Case Study of Calabar Metropolis in Cross River State
Authors: Anthonia Emmanuel Inaja
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The role of the counseling services by Special Educators, Guidance Counsellors and psychologists alike to Families and Parents of children with special needs cannot be over-emphasized. This paper examined the vital role of counseling services and its impact on the emotional and physical readiness of parents to initiate and support the education and rehabilitation needs of their children. The paper considered the importance of counseling, when counseling services are best required preparing the mindset of parents and family members as well as the immediate community of the social needs child.Keywords: counseling, families, special, needs, children, problems, prospect
Procedia PDF Downloads 5142213 The Risk and Prevention of Peer-To-Peer Network Lending in China
Authors: Zhizhong Yuan, Lili Wang, Chenya Zheng, Wuqi Yang
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How to encourage and support peer-to-peer (P2P) network lending, and effectively monitor the risk of P2P network lending, has become the focus of the Chinese government departments, industrialists, experts and scholars in recent years. The reason is that this convenient online micro-credit service brings a series of credit risks and other issues. Avoiding the risks brought by the P2P network lending model, it can better play a benign role and help China's small and medium-sized private enterprises with vigorous development to solve the capital needs; otherwise, it will bring confusion to the normal financial order. As a form of financial services, P2P network lending has injected new blood into China's non-government finance in the past ten years, and has found a way out for idle funds and made up for the shortage of traditional financial services in China. However, it lacks feasible measures in credit evaluation and government supervision. This paper collects a large amount of data about P2P network lending of China. The data collection comes from the official media of the Chinese government, the public achievements of existing researchers and the analysis and collation of correlation data by the authors. The research content of this paper includes literature review; the current situation of China's P2P network lending development; the risk analysis of P2P network lending in China; the risk prevention strategy of P2P network lending in China. The focus of this paper is to try to find a specific program to strengthen supervision and avoid risks from the perspective of government regulators, operators of P2P network lending platform, investors and users of funds. These main measures include: China needs to develop self-discipline organization of P2P network lending industry and formulate self-discipline norms as soon as possible; establish a regular information disclosure system of P2P network lending platform; establish censorship of credit rating of borrowers; rectify the P2P network lending platform in compliance through the implementation of bank deposition. The results and solutions will benefit all the P2P network lending platforms, creditors, debtors, bankers, independent auditors and government agencies of China and other countries.Keywords: peer-to-peer(P2P), regulation, risk prevention, supervision
Procedia PDF Downloads 1662212 Some Considerations about the Theory of Spatial-Motor Thinking Applied to a Traditional Fife Band in Brazil
Authors: Murilo G. Mendes
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This text presents part of the results presented in the Ph.D. thesis that has used John Baily's theory and method as well as its ethnographic application in the context of the fife flutes of the Banda Cabaçal dos Irmãos Aniceto in the state of Ceará, northeast of Brazil. John Baily is a British ethnomusicologist dedicated to studying the relationships between music, musical gesture, and embodied cognition. His methodology became a useful tool to highlight historical-social aspects present in the group's instrumental music. Remaining indigenous and illiterate, these musicians played and transmitted their music from generation to generation, for almost two hundred years, without any nomenclature or systematization of the fingering performed on the flute. In other words, his music, free from any theorization, is learned, felt, perceived, and processed directly through hearing and through the relationship between the instrument's motor skills and its sound result. For this reason, Baily's assumptions became fundamental in the analysis processes. As the author's methodology recommends, classes were held with the natives and provided technical musical learning and some important concepts. Then, transcriptions and analyses of musical aspects were made from patterns of movement on the instrument incorporated by repetitions and/or by the intrinsic facility of the instrument. As a result, it was discovered how the group reconciled its indigenous origins with the demand requested by the public power and the interests of the local financial elite from the mid-twentieth century. The article is structured from the cultural context of the group, where local historical and social aspects influence the social and musical practices of the group. Then, will be present the methodological conceptions of John Baily and, finally, their application in the music of the Irmãos Aniceto. The conclusion points to the good results of identifying, through this methodology and analysis, approximations between discourse, historical-social factors, and musical text. Still, questions are raised about its application in other contexts.Keywords: Banda Cabaçal dos Irmãos Aniceto, John Baily, pífano, spatial-motor thinking
Procedia PDF Downloads 1352211 Physical, Chemical and Environmental Properties of Natural and Construction/Demolition Recycled Aggregates
Authors: Débora C. Mendes, Matthias Eckert, Cláudia S. Moço, Hélio Martins, Jean-Pierre P. Gonçalves, Miguel Oliveira, José P. Da Silva
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Uncontrolled disposal of construction and demolition waste (C & DW) in embankments in the periphery of cities causes both environmental and social problems, namely erosion, deforestation, water contamination and human conflicts. One of the milestones of EU Horizon 2020 Programme is the management of waste as a resource. To achieve this purpose for C & DW, a detailed analysis of the properties of these materials should be done. In this work we report the physical, chemical and environmental properties of C & DW aggregates from 25 different origins. The results are compared with those of common natural aggregates used in construction. Assays were performed according to European Standards. Additional analysis of heavy metals and organic compounds such as polycyclic aromatic hydrocarbons (PAHs) and polychlorinated biphenyls (PCBs), were performed to evaluate their environmental impact. Finally, properties of concrete prepared with C & DW aggregates are also reported. Physical analyses of C & DW aggregates indicated lower quality properties than natural aggregates, particularly for concrete preparation and unbound layers of road pavements. Chemical properties showed that most samples (80%) meet the values required by European regulations for concrete and unbound layers of road pavements. Analyses of heavy metals Cd, Cr, Cu, Pb, Ni, Mo and Zn in the C&DW leachates showed levels below the limits established by the Council Decision of 19 December 2002. Identification and quantification of PCBs and PAHs indicated that few samples shows the presence of these compounds. The measured levels of PCBs and PAHs are also below the limits. Other compounds identified in the C&DW leachates include phthalates and diphenylmethanol. In conclusion, the characterized C&DW aggregates show lower quality properties than natural aggregates but most samples showed to be environmentally safe. A continuous monitoring of the presence of heavy metals and organic compounds should be made to trial safe C&DW aggregates. C&DW aggregates provide a good economic and environmental alternative to natural aggregates.Keywords: concrete preparation, construction and demolition waste, heavy metals, organic pollutants
Procedia PDF Downloads 3492210 Generating Links That Are Both Quasi-Alternating and Almost Alternating
Authors: Hamid Abchir, Mohammed Sabak2
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We construct an infinite family of links which are both almost alternating and quasi-alternating from a given either almost alternating diagram representing a quasi-alternating link, or connected and reduced alternating tangle diagram. To do that we use what we call a dealternator extension which consists in replacing the dealternator by a rational tangle extending it. We note that all non-alternating and quasi-alternating Montesinos links can be obtained in that way. We check that all the obtained quasi-alternating links satisfy Conjecture 3.1 of Qazaqzeh et al. (JKTR 22 (6), 2013), that is the crossing number of a quasi-alternating link is less than or equal to its determinant. We also prove that the converse of Theorem 3.3 of Qazaqzeh et al. (JKTR 24 (1), 2015) is false.Keywords: quasi-alternating links, almost alternating links, tangles, determinants
Procedia PDF Downloads 1602209 Structure, Bioinformatics Analysis and Substrate Specificity of a 6-Phospho-β-Glucosidase Glycoside Hydrolase 1 Enzyme from Bacillus licheniformis
Authors: Wayde Veldman, Ozlem T. Bishop, Igor Polikarpov
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In bacteria, mono and disaccharides are phosphorylated during uptake into the cell via the widely used phosphoenolpyruvate (PEP)-dependent phosphotransferase transport system. As an initial step in the phosphorylated disaccharide metabolism pathway, certain glycoside hydrolase family 1 (GH1) enzymes play a crucial role in releasing phosphorylated and non-phosphorylated monosaccharides. However, structural determinants for the specificity of these enzymes still need to be clarified. GH1 enzymes are known to have a wide array of functions. According to the CAZy database, there are twenty-one different enzymatic activities in the GH1 family. Here, the structure and substrate specificity of a GH1 enzyme from Bacillus licheniformis, hereafter known as BlBglH, was investigated. The sequence of the enzyme BlBglH was compared to the sequences of other characterized GH1 enzymes using sequence alignment, sequence identity calculations, phylogenetic analysis, and motif discovery. Through these various analyses, BlBglH was found to have sequence features characteristic of the 6-phospho-β-glucosidase activity enzymes. Additionally, motif and structure comparisons of the three most commonly studied GH1 enzyme-activities revealed a shared loop amongst the different structures that consist of different sequence motifs – this loop is thought to guide specific substrates (depending on activity) towards the active-site. To further affirm BlBglH enzyme activity, molecular docking and molecular dynamics simulations were performed. Docking was carried out using 6-phospho-β-glucosidase enzyme-activity positive (p-Nitrophenyl-beta-D-glucoside-6-phosphate) and negative (p-Nitrophenyl-beta-D-galactoside-6-phosphate) control ligands, followed by 400 ns molecular dynamics simulations. The positive-control ligand maintained favourable interactions within the active site until the end of the simulation. The negative-control ligand was observed exiting the enzyme at 287 ns. Binding free energy calculations showed that the positive-control complex had a substantially more favourable binding energy compared to the negative-control complex. Jointly, the findings of this study suggest that the BlBglH enzyme possesses 6-phospho-β-glucosidase enzymatic activity.Keywords: 6-P-β-glucosidase, glycoside hydrolase 1, molecular dynamics, sequence analysis, substrate specificity
Procedia PDF Downloads 1302208 Case Report: Treatment Resistant Schizophrenia in an Immigrant Adolescent
Authors: Omaymah Al-Otoom, Rajesh Mehta
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Introduction: Migration is an established risk factor in the development of schizophrenia and other forms of psychosis. The exposure to different social adversities, including social isolation, discrimination, and economic stress, is thought to contribute to elevated rates of psychosis in immigrants and their children. We present a case of resistant schizophrenia in an immigrant adolescent. Case: The patient is a 15-year-old male immigrant. In October 2021, the patient was admitted for irritability, suicidal ideations, and hallucinations. He was treated with Fluoxetine 10 mg daily for irritability. In November 2021, he presented with similar manifestations. Fluoxetine was discontinued, and Risperidone 1 mg at bedtime was started for psychotic symptoms. In March 2022, he presented with commanding auditory hallucinations (voices telling him that people were going to kill his father). Risperidone was gradually increased to 2.5 mg twice daily for hallucinations. The outpatient provider discontinued Risperidone and started Olanzapine 7.5 mg and Lurasidone 40 mg daily. In August 2022, he presented with worsening paranoia due to medication non-adherence. The patient had limited improvement on medications. In October 2022, the patient presented to the ED for visual hallucinations and aggression towards the family. His medications were Olanzapine 10 mg daily, Lurasidone 60 mg daily, and Haloperidol 2.5 mg twice daily. In the ED, he received multiple as-needed medications and was placed in seclusion for his aggressive behavior. The patient showed a positive response to a higher dose of Olanzapine and decreased dose of Lurasidone. The patient was discharged home in stable condition. Two days after discharge, he was brought for bizarre behavior, visual hallucinations, and homicidal ideations at school. Due to concerns for potential antipsychotic side effects and poor response, Lurasidone and Olanzapine were discontinued, and he was discharged home on Haloperidol 5 mg in the morning and 15 mg in the evening. Clozapine treatment was recommended on an outpatient basis. He has no family history of psychotic disorders. He has no history of substance use. A medical workup was done, the electroencephalogram was normal, and the urine toxicology was negative. Discussion: Our patient was on three antipsychotics at some point with no improvement in his psychotic symptoms, which qualifies as treatment-resistant schizophrenia (TRP). It is well recognized that migrants are at higher risk of different psychiatric disorders, including posttraumatic stress disorder, affective disorders, schizophrenia, and psychosis. This is thought to be related to higher exposure to traumatic life events compared to the general population. In addition, migrants are more likely to experience poverty, separation from family members, and discrimination which could contribute to mental health issues. In one study, they found that people who migrated before the age of 18 had twice the risk of psychotic disorders compared to the native-born population. It is unclear whether migration increases the risk of treatment resistance. In a Canadian study, neither ethnicity nor migrant status was associated with treatment resistance; however, this study was limited by its small sample size. There is a need to implement psychiatric prevention strategies and outreach programs through research to mitigate the risk of mental health disorders among immigrants.Keywords: psychosis, immigrant, adolescent, treatment resistant schizophrenia
Procedia PDF Downloads 1162207 The Role of Accounting and Auditing in Anti-Corruption Strategies: The Case of ECOWAS
Authors: Edna Gnomblerou
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Given the current scale of corruption epidemic in West African economies, governments are seeking for immediate and effective measures to reduce the likelihood of the plague within the region. Generally, accountants and auditors are expected to help organizations in detecting illegal practices. However, their role in the fight against corruption is sometimes limited due to the collusive nature of corruption. The Denmark anti-corruption model shows that the implementation of additional controls over public accounts and independent efficient audits improve transparency and increase the probability of detection. This study is aimed at reviewing the existing anti-corruption policies of the Economic Commission of West African States (ECOWAS) as to observe the role attributed to accounting, auditing and other managerial practices in their anti-corruption drive. It further discusses the usefulness of accounting and auditing in helping anti-corruption commissions in controlling misconduct and increasing the perception to detect irregularities within public administration. The purpose of this initiative is to identify and assess the relevance of accounting and auditing in curbing corruption. To meet this purpose, the study was designed to answer the questions of whether accounting and auditing processes were included in the reviewed anti-corruption strategies, and if yes, whether they were effective in the detection process. A descriptive research method was adopted in examining the role of accounting and auditing in West African anti-corruption strategies. The analysis reveals that proper recognition of accounting standards and implementation of financial audits are viewed as strategic mechanisms in tackling corruption. Additionally, codes of conduct, whistle-blowing and information disclosure to the public are among the most common managerial practices used throughout anti-corruption policies to effectively and efficiently address the problem. These observations imply that sound anti-corruption strategies cannot ignore the values of including accounting and auditing processes. On one hand, this suggests that governments should employ all resources possible to improve accounting and auditing practices in the management of public sector organizations. On the other hand, governments must ensure that accounting and auditing practices are not limited to the private sector, but when properly implemented constitute crucial mechanisms to control and reduce corrupt incentives in public sector.Keywords: accounting, anti-corruption strategy, auditing, ECOWAS
Procedia PDF Downloads 2552206 The Inception: A University-Wide Research on Alcohol Consumption
Authors: Robi Lou Logarta, Meliz Ann Marilag, Kristyl Lee Nisnisan, Felipe Lula Jr.
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Nowadays, alcohol is consumed widely around the globe for plenty of reasons. College years are the time that the students really decide if whether they will or will not engage into alcohol, although alcohol drinking begins before students arrive at college. The reasons on why college students consume alcohol vary in many categories. The norms on alcohol drinking are addiction, emotional pain reliever, popularity purposes, socialization, and a medium of euphoria for most students; college students in particular are most likely to feel this need. After tons of requirements to be complied and courses to be reviewed, they felt a need for celebration and relaxation which ends up in drinking with college mates and a few old friends. A lot of reasons consist the consumption of alcohol and this research determined the reasons behind the students’ onset for alcohol consumption; the main reason for such action and the experiences they encountered after in-take, furthermore, the correlation of alcohol drinking to the average allowance of the involved participants; Mindanao State University-Iligan Institute of Technology Students whether it affects their spending towards alcohol or not. This study assumes that alcohol drinking for MSU-IIT students’ is done to relieve emotional pain caused by flunking in particular subjects as well as dealing with romance, as part of the student body, these acts are noticeable enough which made this hypothesis be formulated. Selected MSU-IIT students were asked about their opinions regarding reasons of alcohol consumption. There were 100 respondents consisting of first year to fifth-year students aging 17-23 years old. Choices were given to the students to mark their most favorable reason for drinking that is adult influence, curiosity, family/personal problems, peer pressure, stress. Using the bar and pie chart illustrations, the collected data was then analyzed and among the given choices, the result has invalidated the hypothesis. The outcome shows that curiosity is the topmost reason why students start to drink and not due to emotional pain. With this, another hypothesis is formulated stating that millennial is a curious generation; this generation has changed the norm of drinking. One of the characteristics of the Y generation is being adventurous which correlates to how they get curious about things and the same goes for alcohol consumption, compared to the latter, this generation can be considered early drinkers in this manner. Therefore, it is concluded that MSU-IIT students which are part of the generation Y are adventurous enough to try unfamiliar beverages to satisfy their curious minds.Keywords: adult influence, curiosity, family/personal problems, peer pressure, stress
Procedia PDF Downloads 2612205 Experience in Caring for a Patient with Terminal Aortic Dissection of Lung Cancer and Paralysis of the Lower Limbs after Surgery
Authors: Pei-Shan Liang
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Objective: This article explores the care experience of a terminal lung cancer patient who developed lower limb paralysis after surgery for aortic dissection. The patient, diagnosed with aortic dissection during chemotherapy for lung cancer, faced post-surgical lower limb paralysis, leading to feelings of helplessness and hopelessness as they approached death with reduced mobility. Methods: The nursing period was from July 19 to July 27, during which the author, alongside the intensive care team and palliative care specialists, conducted a comprehensive assessment through observation, direct care, conversations, physical assessments, and medical record review. Gordon's eleven functional health patterns were used for a holistic evaluation, identifying four nursing health issues: "pain related to terminal lung cancer and invasive procedures," "decreased cardiac tissue perfusion due to hemodynamic instability," "impaired physical mobility related to lower limb paralysis," and "hopelessness due to the unpredictable prognosis of terminal lung cancer." Results: The medical team initially focused on symptom relief, administering Morphine 5mg in 0.9% N/S 50ml IVD q6h for pain management and continuing chemotherapy as prescribed. Open communication was employed to address the patient's physical, psychological, and spiritual concerns. Non-pharmacological interventions, including listening, caring, companionship, opioid medication, and distraction techniques like comfortable positioning and warm foot baths, were used to alleviate pain, reducing the pain score to 3 on the numeric rating scale and easing respiratory discomfort. The palliative care team was also involved, guiding the patient and family through the "Four Paths of Life," helping the patient achieve a good end-of-life experience and the family to experience a peaceful life. This process also served to promote the concept of palliative care, enabling more patients and families to receive high-quality and dignified care. The patient was encouraged to express inner anxiety through drawing or writing, which helped reduce the hopelessness caused by psychological distress and uncertainty about the disease's prognosis, as assessed by the Hospital Anxiety and Depression Scale, reaching a level of mild anxiety but acceptable without affecting sleep. Conclusion: What left a deep impression during the care process was the need for intensive care providers to consider the patient's psychological state, not just their physical condition, when the patient's situation changes. Family support and involvement often provide the greatest solace for the patient, emphasizing the importance of comfort and dignity. This includes oral care to maintain cleanliness and comfort, frequent repositioning to alleviate pressure and discomfort, and timely removal of invasive devices and unnecessary medications to avoid unnecessary suffering. The nursing process should also address the patient's psychological needs, offering comfort and support to ensure that they can face the end of life with peace and dignity.Keywords: intensive care, lung cancer, aortic dissection, lower limb paralysis
Procedia PDF Downloads 252204 Consumer Preferences Concerning Food from Carob: A Survey in Crete, Greece
Authors: Georgios A. Fragkiadakis, Antonia Psaroudaki, Theodora Mouratidou, Eirini Sfakianaki
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Research: The nutritional benefits of eating carob are many and important for the human organism, as it is a food rich in carbohydrates and low in fat and contains multiple nutrients, making it a "superfood". Within the framework of the project "Actions for the optimal utilization of the potential of carob in the Region of Crete" which is financed-supervised by the Region of Crete, a second-grade local self-government authority, with the collaboration of the University of Crete and of the Hellenic Mediterranean University, an online survey was carried out with the aim of evaluating dietary habits and views related to the consumption of carob and its products in a sample of local residents. Results and Conclusions: Of the 351 participants, 259 (73.8%) stated that they consume carob products, and 26.2% stated that they do not. Difficult access and limited availability of carob-food products (33.7%), high price (20.7%), and difficulties of use and preparation (15.2%) were cited as the main reasons for non-consumption. Other reasons, to a lesser extent, concern the taste, especially the sweet aftertaste of some products. Concerning the behavior and eating habits related to the consumption of carob products (n=259), 57.9% of the sample report that they buy carob products "sometimes"; 21.2% report "often"; 19.7% report "rarely", and a very small percentage of 1.2% report "constantly". With reference to the reasons for choosing carob products, the participants mention the main reason for their high nutritional value (51.7%), followed by 32.4% of nutritional claims and health claims, and the organoleptic characteristics (10.8%). Other positive factors are the final price of the product, the ease of use, and the respect for the local environment and producers. Some bakery products show the highest percentage of consumption among carob-food consumers, mainly in the form of rusks (86.1%) and breadsticks (70.3%). They are followed, in descending order, by bread (63.3%), toast (52.1%), and flour (50.6%). More specifically: 40.5% consume carob rusks less than once a month; 22% consume less than once a week; up to twice a week 12.4%; 6.6%, consume rusks 3 to 4 times a week, and daily 3.9%. It is worth mentioning that a high percentage of consumers of carob products recommend the consumption to their family and friends. Only a small percentage, in the range of 5%, does not recommend the consumption of carob products in their close family/social circle. The main motivating factors for the consumption of carob products are the expected effects they may have on health (74.1%) and the organoleptic characteristics with a percentage of 21.6%.Keywords: food, consumer, preferences, carob, Crete, Greece
Procedia PDF Downloads 652203 Microbial Dark Matter Analysis Using 16S rRNA Gene Metagenomics Sequences
Authors: Hana Barak, Alex Sivan, Ariel Kushmaro
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Microorganisms are the most diverse and abundant life forms on Earth and account for a large portion of the Earth’s biomass and biodiversity. To date though, our knowledge regarding microbial life is lacking, as it is based mainly on information from cultivated organisms. Indeed, microbiologists have borrowed from astrophysics and termed the ‘uncultured microbial majority’ as ‘microbial dark matter’. The realization of how diverse and unexplored microorganisms are, actually stems from recent advances in molecular biology, and in particular from novel methods for sequencing microbial small subunit ribosomal RNA genes directly from environmental samples termed next-generation sequencing (NGS). This has led us to use NGS that generates several gigabases of sequencing data in a single experimental run, to identify and classify environmental samples of microorganisms. In metagenomics sequencing analysis (both 16S and shotgun), sequences are compared to reference databases that contain only small part of the existing microorganisms and therefore their taxonomy assignment may reveal groups of unknown microorganisms or origins. These unknowns, or the ‘microbial sequences dark matter’, are usually ignored in spite of their great importance. The goal of this work was to develop an improved bioinformatics method that enables more complete analyses of the microbial communities in numerous environments. Therefore, NGS was used to identify previously unknown microorganisms from three different environments (industrials wastewater, Negev Desert’s rocks and water wells at the Arava valley). 16S rRNA gene metagenome analysis of the microorganisms from those three environments produce about ~4 million reads for 75 samples. Between 0.1-12% of the sequences in each sample were tagged as ‘Unassigned’. Employing relatively simple methodology for resequencing of original gDNA samples through Sanger or MiSeq Illumina with specific primers, this study demonstrates that the mysterious ‘Unassigned’ group apparently contains sequences of candidate phyla. Those unknown sequences can be located on a phylogenetic tree and thus provide a better understanding of the ‘sequences dark matter’ and its role in the research of microbial communities and diversity. Studying this ‘dark matter’ will extend the existing databases and could reveal the hidden potential of the ‘microbial dark matter’.Keywords: bacteria, bioinformatics, dark matter, Next Generation Sequencing, unknown
Procedia PDF Downloads 2572202 Sociocultural Context of Pain Management in Oncology and Palliative Nursing Care
Authors: Andrea Zielke-Nadkarni
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Pain management is a question of quality of life and an indicator for nursing quality. Chronic pain which is predominant in oncology and palliative nursing situations is perceived today as a multifactorial, individual emotional experience with specific characteristics including the sociocultural dimension when dealing with migrant patients. This dimension of chronic pain is of major importance in professional nursing of migrant patients in hospices or palliative care units. Objectives of the study are: 1. To find out more about the sociocultural views on pain and nursing care, on customs and nursing practices connected with pain of both Turkish Muslim and German Christian women, 2. To improve individual and family oriented nursing practice with view to sociocultural needs of patients in severe pain in palliative care. In a qualitative-explorative comparative study 4 groups of women, Turkish Muslims immigrants (4 from the first generation, 5 from the second generation) and German Christian women of two generations (5 of each age group) of the same age groups as the Turkish women and with similar educational backgrounds were interviewed (semistructured ethnographic interviews using Spradley, 1979) on their perceptions and experiences of pain and nursing care within their families. For both target groups the presentation will demonstrate the following results in detail: Utterance of pain as well as “private” and “public” pain vary within different societies and cultures. Permitted forms of pain utterance are learned in childhood and determine attitudes and expectations in adulthood. Language, especially when metaphors and symbols are used, plays a major role for misunderstandings. The sociocultural context of illness may include specific beliefs that are important to the patients and yet seem more than far-fetched from a biomedical perspective. Pain can be an influential factor in family relationships where respect or hierarchies do not allow the direct utterance of individual needs. Specific resources are often, although not exclusively, linked to religious convictions and are significantly helpful in reducing pain. The discussion will evaluate the results of the study with view to the relevant literature and present nursing interventions and instruments beyond medication that are helpful when dealing with patients from various socio-cultural backgrounds in painful end-oflife situations.Keywords: pain management, migrants, sociocultural context, palliative care
Procedia PDF Downloads 3632201 Date Palm Insects and Mite Pests at Biskra Oasis, South Algeria
Authors: N. Tarai, S. Seighi, S. Doumandji
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The date palm trees Phoenix dactylifera L. are subject to infestation with a variety of insect pests and mite associated, the Carob moth Ectomyelois ceatoniae (Zeller)(Lepidoptera, Pyralidae) is a key pest. Survey of the insect and mite pests associated with date palm trees in the seven stations at Biskra Oasis, throughout two successive years, from October 2011 until September 2012 revealed twelve insect pests belonging to ten families and six orders in addition to one mite belonging to one family from order Acari.Keywords: date palm, insect, pests, infestation, mit, Biskra, Oasis
Procedia PDF Downloads 4552200 An Extended Inverse Pareto Distribution, with Applications
Authors: Abdel Hadi Ebraheim
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This paper introduces a new extension of the Inverse Pareto distribution in the framework of Marshal-Olkin (1997) family of distributions. This model is capable of modeling various shapes of aging and failure data. The statistical properties of the new model are discussed. Several methods are used to estimate the parameters involved. Explicit expressions are derived for different types of moments of value in reliability analysis are obtained. Besides, the order statistics of samples from the new proposed model have been studied. Finally, the usefulness of the new model for modeling reliability data is illustrated using two real data sets with simulation study.Keywords: pareto distribution, marshal-Olkin, reliability, hazard functions, moments, estimation
Procedia PDF Downloads 822199 Familial Exome Sequencing to Decipher the Complex Genetic Basis of Holoprosencephaly
Authors: Artem Kim, Clara Savary, Christele Dubourg, Wilfrid Carre, Houda Hamdi-Roze, Valerie Dupé, Sylvie Odent, Marie De Tayrac, Veronique David
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Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from the incomplete separation of the two cerebral hemispheres. It is characterized by a wide phenotypic spectrum and a high degree of locus heterogeneity. Genetic defects in 16 genes have already been implicated in HPE, but account for only 30% of cases, suggesting that a large part of genetic factors remains to be discovered. HPE has been recently redefined as a complex multigenic disorder, requiring the joint effect of multiple mutational events in genes belonging to one or several developmental pathways. The onset of HPE may result from accumulation of the effects of multiple rare variants in functionally-related genes, each conferring a moderate increase in the risk of HPE onset. In order to decipher the genetic basis of HPE, unconventional patterns of inheritance involving multiple genetic factors need to be considered. The primary objective of this study was to uncover possible disease causing combinations of multiple rare variants underlying HPE by performing trio-based Whole Exome Sequencing (WES) of familial cases where no molecular diagnosis could be established. 39 families were selected with no fully-penetrant causal mutation in known HPE gene, no chromosomic aberrations/copy number variants and without any implication of environmental factors. As the main challenge was to identify disease-related variants among a large number of nonpathogenic polymorphisms detected by WES classical scheme, a novel variant prioritization approach was established. It combined WES filtering with complementary gene-level approaches: transcriptome-driven (RNA-Seq data) and clinically-driven (public clinical data) strategies. Briefly, a filtering approach was performed to select variants compatible with disease segregation, population frequency and pathogenicity prediction to identify an exhaustive list of rare deleterious variants. The exome search space was then reduced by restricting the analysis to candidate genes identified by either transcriptome-driven strategy (genes sharing highly similar expression patterns with known HPE genes during cerebral development) or clinically-driven strategy (genes associated to phenotypes of interest overlapping with HPE). Deeper analyses of candidate variants were then performed on a family-by-family basis. These included the exploration of clinical information, expression studies, variant characteristics, recurrence of mutated genes and available biological knowledge. A novel bioinformatics pipeline was designed. Applied to the 39 families, this final integrated workflow identified an average of 11 candidate variants per family. Most of candidate variants were inherited from asymptomatic parents suggesting a multigenic inheritance pattern requiring the association of multiple mutational events. The manual analysis highlighted 5 new strong HPE candidate genes showing recurrences in distinct families. Functional validations of these genes are foreseen.Keywords: complex genetic disorder, holoprosencephaly, multiple rare variants, whole exome sequencing
Procedia PDF Downloads 2032198 Hepatitis B, Hepatitis C and HIV Infections and Associated Risk Factors among Substance Abusers in Mekelle Substance Users Treatment and Rehabilitation Centers, Tigrai, Northern Ethiopia
Authors: Tadele Araya, Tsehaye Asmelash, Girmatsion Fiseha
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Background: Hepatitis B virus (HBV), Hepatitis C virus (HCV) and Human Immunodeficiency Virus (HIV) constitute serious healthcare problems worldwide. Blood-borne pathogens HBV, HCV and HIV are commonly associated with infections among substance or Injection Drug Users (IDUs). The objective of this study was to determine the prevalence of HBV, HCV, and HIV infections among substance users in Mekelle Substance users Treatment and Rehabilitation Centers. Methods: A cross-sectional study design was used from Dec 2020 to Sep / 2021 to conduct the study. A total of 600 substance users were included. Data regarding the socio-demographic, clinical and sexual behaviors of the substance users were collected using a structured questionnaire. For laboratory analysis, 5-10 ml of venous blood was taken from the substance users. The laboratory analysis was performed by Enzyme-Linked Immunosorbent Assay (ELISA) at Mekelle University, Department of Medical Microbiology and Immunology Research Laboratory. The Data was analyzed using SPSS and Epi-data. The association of variables with HBV, HCV and HIV infections was determined using multivariate analysis and a P value < 0.05 was considered statistically significant. Result: The overall prevalence rate of HBV, HCV and HIV infections were 10%, 6.6%, and 7.5%, respectively. The mean age of the study participants was 28.12 ± 6.9. A higher prevalence of HBV infection was seen in participants who were users of drug injections and in those who were infected with HIV. HCV was comparatively higher in those who had a previous history of unsafe surgical procedures than their counterparts. Homeless participants were highly exposed to HCV and HIV infections than their counterparts. The HBV/HIV Co-infection prevalence was 3.5%. Those doing unprotected sexual practices [P= 0.03], Injection Drug users [P= 0.03], those who had an HBV-infected person in their family [P=0.02], infected with HIV [P= 0.025] were statistically associated with HBV infection. HCV was significantly associated with Substance users and previous history of unsafe surgical procedures [p=0.03, p=0.04), respectively. HIV was significantly associated with unprotected sexual practices and being homeless [p=0.045, p=0.05) respectively. Conclusion-The highly prevalent viral infection was HBV compared to others. There was a High prevalence of HBV/HIV co-infection. The presence of HBV-infected persons in a family, unprotected sexual practices and sharing of needles for drug injection were the risk factors associated with HBV, HIV, and HCV. Continuous health education and screening of the viral infection coupled with medical and psychological treatment is mandatory for the prevention and control of the infections.Keywords: hepatitis b virus, hepatitis c virus, HIV, substance users
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