Search results for: child involvement
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 2557

Search results for: child involvement

907 The Role of Art and Music in Enriching Adult Learning in Maltese as a Second Language

Authors: Jacqueline Zammit

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Currently, a considerable number of individuals from different backgrounds are being drawn to Malta due to its favourable environment for business, investment, and employment. This influx has led to a growing interest among expats in learning Maltese as a second language (ML2) to enrich their experience of working and residing in Malta. However, the intricacies of Maltese grammar, particularly challenging for second language (L2) learners unfamiliar with Arabic, can pose difficulties in the learning process. Furthermore, it's worth noting that the teaching of ML2 is an emerging field with limited existing research on effective pedagogical strategies. The realm of second language acquisition (SLA) can be notably demanding for adults, requiring well-founded interventions to facilitate learning. Among these interventions, approaches grounded in empirical evidence have incorporated artistic and musical elements to augment SLA. Both art and music have proven roles in facilitating L2 communication, aiding vocabulary retention, and improving comprehension skills. This study aims to delve into the utilization of music and art as catalysts for enhancing the progress of adult learners in mastering ML2. The research employs a qualitative methodology, employing a sample selected through convenience sampling, which encompassed 37 adult learners of ML2. These participants engaged in individual interviews. The data derived from these interviews were subjected to thorough analysis. The outcomes of the study underscore the substantial positive influence exerted by art and music on the academic advancement of adult ML2 learners. Notably, it emerged from the participants' accounts that the current ML2 curricula lack the integration of art and music. Therefore, this study advocates for the incorporation of art and music components within both traditional classroom settings and online ML2 courses. The intention is to bolster the academic accomplishments of adult learners in the realm of Maltese as a second language, bridging the current gap between theory and practice.

Keywords: academic accomplishment, mature learners, visual art, learning Maltese as a second language, musical involvement, acquiring a second language

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906 Exploring the Effectiveness of End-Of-Life Patient Decision Add in the ICU

Authors: Ru-Yu Lien, Shih-Hsin Hung, Shu-Fen Lu, Ju-Jen Shie, Wen-Ju Yang, Yuann-Meei Tzeng, Chien-Ying Wang

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Background: The quality of care in intensive care units (ICUs) is crucial, especially for terminally ill patients. Shared decision-making (SDM) with families is essential to ensure appropriate care and reduce suffering. Aim: This study explores the effectiveness of an end-of-life decision support Patient Decision Aid (PDA) in an ICU setting. Methods: This study employed a cross-sectional research design conducted in an ICU from August 2020 to June 2023. Participants included family members of end-of-life patients aged 20 or older. A total of 319 participants. Family members of end-of-life patients received the PDA, and data were collected after they made medical decisions. Data collection involved providing family members with a PDA during family meetings. A post-PDA questionnaire with 17 questions assessed PDA effectiveness and anxiety levels. Statistical analysis was performed using SPSS 22.0. Results: The PDA significantly reduced anxiety levels among family members (p < 0.001). It helped them organize their thoughts, prepare for discussions with doctors, and understand critical decision factors. Most importantly, it influenced decision outcomes, with a shift towards palliative care and withdrawal of life-sustaining treatment. Conclusion: This study highlights the importance of family-centered end-of-life care in ICUs. PDAs promote informed decision-making, reduce conflicts, and enhance patient and family involvement. These tools align patient values and goals with medical recommendations, ultimately leading to decisions that prioritize comfort and quality of life. Implementing PDAs in healthcare systems can ensure that patients' care aligns with their values.

Keywords: shared decision-making, patient decision aid, end-of-life care, intensive care unit, family-centered care

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905 A Family Development Approach to Understanding the Transfer of Family Business Ownership

Authors: Susan Lanz, Gary T. Burke, Omid Omidvar

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The intention to transfer ownership control across family generations is acknowledged to be central to developing a theoretical understanding of how family businesses differ and are distinct as a business group. However, in practice, most business-owning families face challenges to transfer their business ownership from one family generation to the next. To date, researchers have paid little attention to how and when ownership is passed across family generations and what the dynamics of such transitions are. This is primarily due to the prevailing assumption that ownership transfer is an unimportant and legalistic issue that occurs within a wider family management succession process. Yet, the limited evidence available suggests that family ownership transfer occurs inside and outside of the management succession process and is a difficult process for business-owning families to navigate. As a result, many otherwise viable family businesses are closing, leading to unnecessary loss of jobs and knowledge. This qualitative paper examines how family members understand and navigate the ownership transfer process. This study uses an inductive qualitative research design, conducted through in-depth interviews within eight business-owning families. It draws on family development theory and shows how a wide range of family-related events and dynamics outside of family business involvement underlie and shape the ownership transfer process. The findings extend the theory on how these events trigger ownership transfer and how they shape the ownership meanings held within business-owning families. This study found that ownership transfer meanings extend beyond that of transferring the legal control and financial appropriation rights of shareholders. The study concludes there are three different stages in the process of ownership transfer -symbolic, re-balancing, and protectionist. Each stage creates distinct family social constructions of the rights of family members to hold business ownership, and each stage occurs within a specific family development phase.

Keywords: business-owning family, family development theory, ownership transfer, process

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904 Multiple Organ Manifestation in Neonatal Lupus Erythematous: Report of Two Cases

Authors: A. Lubis, R. Widayanti, Z. Hikmah, A. Endaryanto, A. Harsono, A. Harianto, R. Etika, D. K. Handayani, M. Sampurna

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Neonatal lupus erythematous (NLE) is a rare disease marked by clinical characteristic and specific maternal autoantibody. Many cutaneous, cardiac, liver, and hematological manifestations could happen with affect of one organ or multiple. In this case, both babies were premature, low birth weight (LBW), small for gestational age (SGA) and born through caesarean section from a systemic lupus erythematous (SLE) mother. In the first case, we found a baby girl with dyspnea and grunting. Chest X ray showed respiratory distress syndrome (RDS) great I and echocardiography showed small atrial septal defect (ASD) and ventricular septal defect (VSD). She also developed anemia, thrombocytopenia, elevated C-reactive protein, hypoalbuminemia, increasing coagulation factors, hyperbilirubinemia, and positive blood culture of Klebsiella pneumonia. Anti-Ro/SSA and Anti-nRNP/sm were positive. Intravenous fluid, antibiotic, transfusion of blood, thrombocyte concentrate, and fresh frozen plasma were given. The second baby, male presented with necrotic tissue on the left ear and skin rashes, erythematous macula, athropic scarring, hyperpigmentation on all of his body with various size and facial haemorrhage. He also suffered from thrombocytopenia, mild elevated transaminase enzyme, hyperbilirubinemia, anti-Ro/SSA was positive. Intravenous fluid, methyprednisolone, intravenous immunoglobulin (IVIG), blood, and thrombocyte concentrate transfution were given. Two cases of neonatal lupus erythematous had been presented. Diagnosis based on clinical presentation and maternal auto antibody on neonate. Organ involvement in NLE can occur as single or multiple manifestations.

Keywords: neonatus lupus erythematous, maternal autoantibody, clinical characteristic, multiple organ manifestation

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903 A Retrospective Review of HIV-Infected Pregnant Females with Respect to Gestational Age and Mode of Delivery: Trends over a Decade

Authors: Qurat-ul-Ain, Humaira Mehmood

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Background: HIV infection (a global pandemic) in pregnant women has turn out to be an emerging aspect of public health because of its role in the spread of HIV infection, predominantly among children. Aim: The aim was to analyze the trends of diagnosis with respect to gestational age and an overview of the mode of delivery over ten years. Methods: A retrospective data collection from clinical records of diagnosed HIV infected pregnant females attended at HIV antenatal clinic (special clinic), at Pakistan Institute of Medical Sciences, Islamabad, for various complaints during the period of 10 years from February 2007 to December 2016 was done. Results: A total of 113 pregnancies were reported with HIV infection in 10 years. Cases diagnosed at the 1st trimester (1-12 weeks) of pregnancy were (50.4%, 57/113), at the 2nd trimester (13-26 weeks) were (24.8%, 28/113), at the 3rd trimester (27-40+ weeks) were (24.7%, 28/113). Most deliveries were by caesarean section (53.1%, 60/113), elective caesarean sections were (58.3%, 35/60) and emergency caesarean sections were (41.6%,25/60). Vaginal deliveries were (26.5%, 30/113). Reported miscarriages were (17.7%, 20/113). Conclusion: At 1st trimester, 50% of the females were diagnosed with HIV infection, and 50% remained undiagnosed at their 1st trimester. Routine antenatal HIV testing throughout the country is vastly needed for timely diagnoses and prompt treatment(antiretroviral therapy), to suppress the virus, to reduce the risk of spread of HIV infection, to plan elective caesarean section delivery and to prevent mother-to-child transmission.

Keywords: gestational age, HIV infection, mode of delivery, pregnancy

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902 Youth and Conflict in Pakistan: Understanding Causes and Promoting Peace

Authors: Irfan Khan

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Both the analytical methods used to understand the phenomena of peacebuilding and the ensuing viewpoints on achieving and sustaining "sustainable peace" are broad and diverse. This new field of study draws from sociology, anthropology, political theory, and political economy, psychology, international relations, and more recently, the development sciences to examine the wide range of 'conflicts' it describes. This paper emphasizes the significance of investigating the causes of juvenile disputes. It explains how police corruption encourages youth crime and why it's so important to address this issue head-on. It also examines the historical foundations and external pressures that have increased religious extremism and sectarian strife in Pakistan. The primary argument is that peace is not only a desirable 'goal' in itself but also that it may be a means to achieve political stability and long-term prosperity. Strategies for constructing peace may take many shapes, each tailored to the specifics of a given conflict, its scope, and the individuals involved. By drawing on some existing literature and applying it to the situation in Pakistan, this article proposes a viewpoint that centers on the participation of young people in the peacebuilding process. Due to their enhanced susceptibility and penchant for demanding change, young people are more likely to get involved in a conflict when economic failure and unemployment are present. The piece also emphasizes the marginalization young people experience as a result of their absence from decision-making processes and the political system. The article claims that Pakistan's rapidly growing young population presents a significant chance for a long-term "demographic dividend" in the form of improvements in peacebuilding processes. This benefit will only materialize if serious steps are taken to increase young people's voice and agency in political decision-making.

Keywords: peacebuilding, youth-led initiatives, empowerment, conflict & violence, religious extremism, political involvement, decision-making

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901 Transcriptional Evidence for the Involvement of MyD88 in Flagellin Recognition: Genomic Identification of Rock Bream MyD88 and Comparative Analysis

Authors: N. Umasuthan, S. D. N. K. Bathige, W. S. Thulasitha, I. Whang, J. Lee

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The MyD88 is an evolutionarily conserved host-expressed adaptor protein that is essential for proper TLR/ IL1R immune-response signaling. A previously identified complete cDNA (1626 bp) of OfMyD88 comprised an ORF of 867 bp encoding a protein of 288 amino acids (32.9 kDa). The gDNA (3761 bp) of OfMyD88 revealed a quinquepartite genome organization composed of 5 exons (with the sizes of 310, 132, 178, 92 and 155 bp) separated by 4 introns. All the introns displayed splice signals consistent with the consensus GT/AG rule. A bipartite domain structure with two domains namely death domain (24-103) coded by 1st exon, and TIR domain (151-288) coded by last 3 exons were identified through in silico analysis. Moreover, homology modeling of these two domains revealed a similar quaternary folding nature between human and rock bream homologs. A comprehensive comparison of vertebrate MyD88 genes showed that they possess a 5-exonic structure. In this structure, the last three exons were strongly conserved, and this suggests that a rigid structure has been maintained during vertebrate evolution. A cluster of TATA box-like sequences were found 0.25 kb upstream of cDNA starting position. In addition, putative 5'-flanking region of OfMyD88 was predicted to have TFBS implicated with TLR signaling, including copies of NFB1, APRF/ STAT3, Sp1, IRF1 and 2 and Stat1/2. Using qPCR technique, a ubiquitous mRNA expression was detected in liver and blood. Furthermore, a significantly up-regulated transcriptional expression of OfMyD88 was detected in head kidney (12-24 h; >2-fold), spleen (6 h; 1.5-fold), liver (3 h; 1.9-fold) and intestine (24 h; ~2-fold) post-Fla challenge. These data suggest a crucial role for MyD88 in antibacterial immunity of teleosts.

Keywords: MyD88, innate immunity, flagellin, genomic analysis

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900 Clinical Relevance of TMPRSS2-ERG Fusion Marker for Prostate Cancer

Authors: Shalu Jain, Anju Bansal, Anup Kumar, Sunita Saxena

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Objectives: The novel TMPRSS2:ERG gene fusion is a common somatic event in prostate cancer that in some studies is linked with a more aggressive disease phenotype. Thus, this study aims to determine whether clinical variables are associated with the presence of TMPRSS2:ERG-fusion gene transcript in Indian patients of prostate cancer. Methods: We evaluated the clinical variables with presence and absence of TMPRSS2:ERG gene fusion in prostate cancer and BPH association of clinical patients. Patients referred for prostate biopsy because of abnormal DRE or/and elevated sPSA were enrolled for this prospective clinical study. TMPRSS2:ERG mRNA copies in samples were quantified using a Taqman chemistry by real time PCR assay in prostate biopsy samples (N=42). The T2:ERG assay detects the gene fusion mRNA isoform TMPRSS2 exon1 to ERG exon4. Results: Histopathology report has confirmed 25 cases as prostate cancer adenocarcinoma (PCa) and 17 patients as benign prostate hyperplasia (BPH). Out of 25 PCa cases, 16 (64%) were T2: ERG fusion positive. All 17 BPH controls were fusion negative. The T2:ERG fusion transcript was exclusively specific for prostate cancer as no case of BPH was detected having T2:ERG fusion, showing 100% specificity. The positive predictive value of fusion marker for prostate cancer is thus 100% and the negative predictive value is 65.3%. The T2:ERG fusion marker is significantly associated with clinical variables like no. of positive cores in prostate biopsy, Gleason score, serum PSA, perineural invasion, perivascular invasion and periprostatic fat involvement. Conclusions: Prostate cancer is a heterogeneous disease that may be defined by molecular subtypes such as the TMPRSS2:ERG fusion. In the present prospective study, the T2:ERG quantitative assay demonstrated high specificity for predicting biopsy outcome; sensitivity was similar to the prevalence of T2:ERG gene fusions in prostate tumors. These data suggest that further improvement in diagnostic accuracy could be achieved using a nomogram that combines T2:ERG with other markers and risk factors for prostate cancer.

Keywords: prostate cancer, genetic rearrangement, TMPRSS2:ERG fusion, clinical variables

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899 Aquatic Intervention Research for Children with Autism Spectrum Disorders

Authors: Mehmet Yanardag, Ilker Yilmaz

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Children with autism spectrum disorders (ASD) enjoy and success the aquatic-based exercise and play skills in a pool instead of land-based exercise in a gym. Some authors also observed that many children with ASD experience more success in attaining movement skills in aquatic environment. Properties of the water and hydrodynamic principles cause buoyancy of the water and decrease effects of gravity and it leads to allow a child to practice important aquatic skills with limited motor skills. Also, some authors experience that parents liked the effects of the aquatic intervention program on children with ASD such as improving motor performance, movement capacity and learning basic swimming skills. The purpose of this study was to investigate the effects of aquatic exercise training on water orientation and underwater working capacity were measured in the pool. This study included in four male children between 5 and 7 years old with ASD and 6.25±0.5 years old. Aquatic exercise skills were applied by using one of the error less teaching which is called the 'most to least prompt' procedure during 12-week, three times a week and 60 minutes a day. The findings of this study indicated that there were improvements test results both water orientation skill and underwater working capacity of children with ASD after 12-weeks exercise training. It was seen that the aquatic exercise intervention would be affected to improve working capacity and orientation skills with the special education approaches applying children with ASD in multidisciplinary team-works.

Keywords: aquatic, autism, orientation, ASD, children

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898 Factors Associated to Down Syndrome Causes in Patients of Cytogenetics Laboratory, Faculty of Medicine, Universitas Padjadjaran in 2014─2015

Authors: Bremmy Laksono, Nurul Qomarilla, Riksa Parikrama, Dyan K. Nugrahaeni, Willyanti Soewondo, Dadang S. H. Effendi, Eriska Rianti, Arlette S. Setiawan, Ine Sasmita, Risti S. Primanti, Erna Kurnikasari, Yunia Sribudiani

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Down syndrome is a chromosomal abnormality of chromosome 21 which can appear in man or woman. Maternal age and paternal age, history of radiation are the common risk factors. This study was conducted to observe risk factors which related as causes of Down syndrome. In this case control study using purposive sampling technique, 84 respondents were chosen from Cell Culture and Cytogenetics Laboratory patients in Faculty of Medicine, Universitas Padjadjaran, Indonesia. They were used as study samples and divided into 42 Down syndrome cases and 42 control respondents. This study used univariate and bivariate analysis (chi-square). Samples population were West Java residents, the biggest province in Indonesia in number of population. The results showed maternal age, paternal age, history of radiation exposure and family history were not significantly related to Down syndrome baby. Moreover, all of those factors also did not contribute to the risk of having a child with Down syndrome in patients at Cell Culture and Cytogenetics Laboratory, Faculty of Medicine, Universitas Padjadjaran. Therefore, we should investigate other risk factors of Down syndrome in West Java population.

Keywords: down syndrome, family history, maternal age, paternal age, risk factor

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897 Influences of Socioeconomic Status and Age on Child Creativity: An Exploratory Study Applied to School Children in Poland

Authors: Bernard Vaernes

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Creativity is thought to be of importance for educational success. Educational institutions vary greatly in regard to socioeconomic status (SES) and curricular emphasis on creativity. Research is needed to clarify the effects of age and SES on creativity. The objective of this study will be to compare the creative performance of children with different SES, low or high, and age. It is hypothesized that younger children will score higher than older children, independent of their SES. Children aged 15, 12, and 9 from four different junior and secondary schools in Warsaw, Poland, will participate in the study. The schools will differ in terms of socioeconomic, geographic localization. To assess creative performance, a Polish adaptation of the Torrance Test of Creative Thinking (TTCT) will be used. In order to select low and high SES individuals for SES grouping, a Polish adaptation of the MacArthur Scale of Subjective Social Status will be given to all participants. To control for individual differences in personality traits, a Polish adaptation of the Big Five Questionnaire for Children (BFQ-C) will be used. These measures will allow to compare the creative performance of children with different age and SES and eliminate confound variables. It is predicted that younger children, as well as high SES children, will score higher on the TTCT than older children, and low SES children. The findings of this study may provide useful insight into socioeconomic and age differences in creativity, as well as facilitating teacher’s adjustment of learning styles and emphasis on creativity in relation to the SES and age of their students.

Keywords: big five questionnaire for children, children, creativity, socioeconomic status, Torrance test of creative thinking, TTCT

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896 Gender Inequality and Human Trafficking

Authors: Kimberly McCabe

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The trafficking of women and children for abuse and exploitation is not a new problem under the umbrella of human trafficking; however, over the last decade, the problem has attracted increased attention from international governments and non-profits attempting to reduce victimization and provide services for survivors. Research on human trafficking suggests that the trafficking of human beings is, largely, a symptom of poverty. As the trafficking of human beings may be viewed as a response to the demand for people for various forms of exploitation, a product of poverty, and a consequence of the subordinate positions of women and children in society, it reaches beyond randomized victimization. Hence, human trafficking, and especially the trafficking of women and children, goes beyond the realm of poorness. Therefore, to begin to understand the reasons for the existence of human trafficking, one must identify and consider not only the immediate causes but also those underlying structural determinants that facilitate this form of victimization. Specifically, one must acknowledge the economic, social, and cultural factors that support human trafficking. This research attempts to study human trafficking at the country level by focusing on economic, social, and cultural characteristics. This study focuses on inequality and, in particular, gender inequality as related to legislative attempts to address human trafficking. Within the design of this project is the use of the US State Department’s tier classification system for Trafficking in Persons (TIP) and the USA CIA Fact Sheet of country characteristics for over 150 countries in an attempt to model legal outcomes as related to human trafficking. Results of this research demonstrate the significance of characteristics beyond poverty as related to country-level responses to human trafficking.

Keywords: child trafficking, gender inequality, human trafficking, inequality

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895 Agony and Agency: Discursive Construction of Barren women in the Bible and Traditional African Society

Authors: Vicky Khasandi-Telewa, Sinfree Makoni

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Barrenness is a fundamentally agonizing condition that leads to identity disruption in its victims. In Africa, women are usually referred to as ‘Mother of X,’ and this causes grief to one who does not have a child to be identified with. This paper is an examination and critical appraisal of the impact of barrenness on the self-perception of women and the underlying power relations in how they are discursively constructed in the Bible and Traditional African Society (TAS). It is an analysis of expressive practices to examine how barrenness is constructed in Christianity and TAS with the aim of understanding the intersecting power systems. We approach this from an integrationism and Critical Discourse Analysis perspective that takes seriously both the radical harassment of barren women and the possibilities offered by the ensuing desperation calling for inclusive reinterpretation. We also seek to understand barren women’s coping mechanisms and suggestions on how best to improve their lives. The purpose of this study is to explain how discursive construction of barrenness affects the fundamental rights and freedoms of women and what linguistic strategies they adopt to navigate through the maze of stigma. It seeks to illustrate a more nuanced complexity of barren women's lives through women's own exegesis of the Biblical accounts of barrenness and their traditions and to explore alternative narratives. We explore the linguistic strategies the barren women employ to communicate their coping with limitations imposed upon their rights by the negative constructions.

Keywords: integrationism, critical discourse analysis, barrenness, communication strategies, women rights

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894 A Cross-Sectional Study on the Nutritional Status of School Going Children From Urban and Rural Populations of Pakistan

Authors: Aftab Ahmed, Farhan Saeed, Muhammad Afzaal, Shinawar Waseem Ali, Ali Imran, Sadaf Munir

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Malnutrition is a globally increasing public health concern among children; it affects number of school children influencing their growth, development and academic performance. The tenet of the current cross sectional study was to assess the nutritional biomarkers of school going children of age 12-15 years resulting in stunting, underweight, overweight, bone deformities and other health disparities in nutritionally deprived urban and rural populations of Pakistan. A sample size comprising of 180 school going children was stipulated from the targeted urban and rural populations. The fallouts of investigation unveiled that both rural and urban populations were experiencing nutritional challenges however; on account of awareness paucity the rustic population was nutritionally more compromised. Hematological tests elucidated 16.7% and 7.8% cases for high glucose level, 35.6% and 27.8% cases for low hemoglobin levels, 14.4% and 15.6% cases for low calcium indices, 12.2% and 4.4% high white blood cell count (WBC), 20% and 14.4% low red blood cell count, 76.7% and 74.4% low hematocrit (HCT) values, among the rural and urban populations respectively. The above mentioned outcomes can serve as a way forward for policy and law maker institutions to curb the possible barricades in the way of healthy nutritional status in these areas

Keywords: malnutrition, hematological study, child nutrition, bone mineral density, calcium, RBC

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893 A Relationship Model That Illustrates the Effect of Humorous Packaging Designs on Brand Awareness and Brand Attitude

Authors: Shu-Yuan Lin, Tung-Chin Chou

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As products become increasingly similar in competitive markets, achieving product segmentation and differentiation through packaging design has become the primary task when designing retail product packaging. When the main focus of brand marketing is no longer the product itself, emotional marketing, such as the use of humorous packaging designs, may be employed to successfully promote the brand. Such efforts will capture the hearts of consumers, generate discussions, and allow the brand to leave a deep impression in consumers. In this study, snack packaging was used to develop a relationship model that illustrated the effect of humorous packaging designs on brand awareness and brand attitude. The study was divided into three stages: In the first stage, in-depth interviews and focus group interviews were conducted with experts to construct 24 indicators for assessing humorous packaging designs. In the second stage, survey questionnaires were distributed to a young consumer group; the results showed that the group had a high and low product involvement with chocolate and dried shredded squid, respectively. Humorous packaging designs were subsequently created for two snack types to produce a study sample of 12 different packaging. In the third stage, packaging designs were evaluated by obtaining scores for the consumers’ brand awareness, brand attitude, and perceived effects of the packaging designs. Finally, a relationship model was developed to show the effect of humorous packaging designs on brand awareness and brand attitude, confirming that two perceived effects of humorous packaging designs (i.e., ‘pleasant and emotionally healing’ and ‘connected to people’s daily life’) exhibited a significant and positive effect on ‘perceived brand value,’ where the effect of ‘pleasant and emotionally healing’ was the most significant. In addition, ‘pleasant and emotionally healing’ exerted a significant and positive effect on ‘brand purchase intention.’ Furthermore, packaging designs with humorous elements helped foster brand awareness.

Keywords: brand awareness, brand attitude, humorous design, packaging design

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892 Evaluation of the Impact of Community Based Disaster Risk Management Applied In Landslide Prone Area; Reference to Badulla District

Authors: S. B. D. Samarasinghe, Malini Herath

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Participatory planning is a very important process for decision making and choosing the best alternative options for community welfare, development of the society and its interactions among community and professionals. People’s involvement is considered as the key guidance in participatory planning. Presently, Participatory planning is being used in many fields. It's not only limited to planning but also to disaster management, poverty, housing, etc. In the past, Disaster management practice was a top-down approach, but it raised many issues as it was converted to a bottom-up approach. There are several approaches that can aid disaster management. Community-Based Disaster Risk Management (CBDRM) is a very successful participatory approach to risk management that is often successfully applied by other disaster-prone countries. In the local context, CBDRM has been applied to prevent Diseases as well as to prevent disasters such as landslides, tsunamis and floods. From three years before, Sri Lanka has initiated the CBDRM approach to minimize landslide vulnerability. Hence, this study mainly focuses on the impact of CBDRM approaches on landslide hazards. Also to identify their successes and failures from both implementing parties and community. This research is carried out based on a qualitative method combined with a descriptive research approach. A successful framework was prepared via a literature review. Case studies were selected considering landslide CBDRM programs which were implemented by Disaster Management Center and National Building Research Organization in Badulla. Their processes were evaluated. Data collection is done through interviews and informal discussions. Then their ideas were quantified by using the Relative Effectiveness index. The resulting numerical value was used to rank the program effectiveness and their success, failures and impacting factors. Results show that there are several failures among implementing parties and the community. Overcoming those factors can make way for better conduction of future CBDRM programs.

Keywords: community-based disaster risk management, disaster management, preparedness, landslide

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891 Conjugal Relationship and Reproductive Decision-Making among Couples in Southwest Nigeria

Authors: Peter Olasupo Ogunjuyigbe, Sarafa Shittu

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This paper emphasizes the relevance of conjugal relationship and spousal communication towards enhancing men’s involvement in contraceptive use among the Yorubas of South Western Nigeria. An understanding of males influence and the role they play in reproductive decision making can throw better light on mechanisms through which egalitarianness of husband/wife decision making influences contraceptive use. The objective of this study was to investigate how close conjugal relationships can be a good indicator of joint decision making among couples using data derived from a survey conducted in three states of South Western Nigeria. The study sample consisted of five hundred and twenty one (521) male respondents aged 15-59 years and five hundred and forty seven (547) female respondents aged 15-49 years. The study used both quantitative and qualitative approached to elicit information from the respondents. In order that the study would be truly representative of the towns, each of the study locations in the capital cities was divided into four strata: The traditional area, the migrant area, the mixed area (i.e. traditional and migrant), and the elite area. In the rural areas, selection of the respondents was by simple random sampling technique. However, the random selection was made in such a way that all the different parts of the locations were represented. Generally, the data collected were analysed at univariate, bivariate, and multivariate levels. Logistic regression models were employed to examine the interrelationships between male reproductive behaviour, conjugal relationship and contraceptive use. The study indicates that current use of contraceptive is high among this major ethnic group in Nigeria because of the improved level of communication among couples. The problem, however, is that men still have lower exposure rate when it comes to question of family planning information, education and counseling. This has serious implications on fertility regulation in Nigeria.

Keywords: behavior, conjugal, communication, counseling, spouse

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890 An Experience of HIV Testing and Counseling Services at a Tertiary Care Center of Bangladesh

Authors: S. M. Rashed Ul Islam, Shahina Tabassum, Afsana Anwar Miti

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Objective: HIV testing and counseling center (HTC) is an important component of the HIV/AIDS detection, prevention and control interventions. The service was first initiated at the Department of Virology, Bangabandhu Sheikh Mujib Medical University (BSMMU) since the first case detection in 1989. The present study aimed to describe the demographic profile among the attendees tested HIV positive. Methods: The present study was carried out among 219 HIV positive cases detected through screening at the Department of Virology of BSMMU during the year of 2012-2016. Data were collected through pre-structured written questionnaire during the counseling session. Data were expressed as frequency and percentages and analyzed using SPSS v20.0 program. Results: Out of 219 HIV cases detected, 77.6% were males, and 22.4% were females with a mean age (mean±SD) of 35.46±9.46 years. Among them, 70.7% belonged to the 26-45 age groups representing the sexually active age. The majority of the cases were married (86.3%) and 49.8% had primary level of education whereas, 8.7% were illiterate. Nearly 42% of cases were referred from Chittagong division (south-east part of the country) followed by Dhaka division (35.6%). The bulk of study population admitted to involvement in high-risk behaviour (90%) in the past and 42% of them had worked overseas. The Pearson Chi-square (χ2) analysis revealed significant relationship of gender with marital (χ2=7.88 at 2% level) and occupation status (χ2=120.48 at 6% level); however, no association was observed with risk behaviour and educational status. Recommendations: HIV risk behavior was found to be a prime source for HIV infection among the study population. So, there is need for health education and awareness program to bring about behavioral changes to halt the yearly increase of new cases in the country with special attention to our overseas workers on HIV/AIDS risk and safety.

Keywords: Bangladesh, health education, HIV testing and counseling (HTC), HIV/AIDS, risk behavior

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889 The Strategic Roles of Women in Small Family Businesses: Evidence from Two Emerging Economies in West Africa

Authors: Bamidele Wale-Oshinowo, Doris Akyere Boateng, Lebura Sorbarikor

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Women play significant roles when it comes to the survival of family businesses; however, their efforts are less acknowledged across the developing world. In the case where these businesses are started by husbands, women in many instances work as hard as the men to build up the business. In spite of this, the benefits women receive are not equal to their inputs. For instance, the profits accruing from ownership of these businesses are mainly enjoyed by husbands, as they are deemed to be the legal owners of family businesses in most developing economies. Though the number of women involvement in the ownership, management, and direction of family businesses keeps increasing over the years, their efforts sometimes are ‘invisible’ and not rewarded. Using a phenomenological approach, this study purposively selected 20 businesswomen each from Ghana and Nigeria for in-depth interviews on the different roles they play in ensuring the success of their family businesses (FBs). This study also explored the challenges and opportunities that these women have within their family businesses. Among the major findings of this study is the important strategic direction that women give in terms of providing both tangible and intangible resources such as transfer of transit knowledge to the next generation. Women were also found to play a significant role in the implementation of entrepreneurial orientation within small family businesses in Ghana and Nigeria. However, the study revealed that women experience various challenges as stakeholders in family businesses, among which are: work-life balance issues, succession issues, and culture-related presuppositions about gender roles both within the business and in their families. In the light of the study’s findings, critical recommendations made include encouraging founders and/or owners of family businesses to create a conducive and viable platform for women to grow into key leadership positions within Family businesses; doing this would impact strongly on the growth rate of these form of businesses within the African Region.

Keywords: emerging economies, control, management, resources, strategy, women

Procedia PDF Downloads 344
888 The Effects of Future Priming on Resource Concern

Authors: Calvin Rong, Regina Agassian, Mindy Engle-Friedman

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Climate changes, including rising sea levels and increases in global temperature, can have major effects on resource availability, leading to increased competition for resources and rising food prices. The abstract nature and often delayed consequences of many ecological problems cause people focus on immediate, specific, and personal events and circumstances that compel immediate and emotional involvement. This finding may be explained by the challenges humans have in imagining themselves in the future, a shortcoming that interferes with decision-making involving far-off rewards, and leads people to indicate a lower concern toward the future than to present circumstances. The present study sought to assess whether priming people to think of themselves in the future might strengthen the connection to their future selves and stimulate environmentally-protective behavior. We hypothesize that priming participants to think about themselves in the future would increase concern for the future environment. 45 control participants were primed to think about themselves in the present, and 42 participants were primed to think about themselves in the futures. After priming, the participants rated their concern over access to clean water, food, and energy on a scale of 1 to 10. They also rated their predicted care levels for the environment at age points 40, 50, 60, 70, 80, and 90 on a scale of 1(not at all) to 10 (very much). Predicted care levels at age 90 for the experimental group was significantly higher than for the control group. Overall the experimental group rated their concern for resources higher than the control. In comparison to the control group (M=7.60, SD=2.104) participants in the experimental group had greater concern for clean water (M=8.56, SD=1.534). In comparison to the control group (M=7.49, SD=2.041) participants in the experimental group were more concerned about food resources (M=8.41, SD=1.830). In comparison to the control group (M=7.22, SD=1.999) participants in the experimental group were more concerned about energy resources (M=8.07, SD=1.967). This study assessed whether a priming strategy could be used to encourage pro-environmental practices that protect limited resources. Future-self priming helped participants see past short term issues and focus on concern for the future environment.

Keywords: climate change, future, priming, global warming

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887 Creating Entrepreneurs through Contribution of Individuals and Corporations: An Insight on Persons with Disabilities in Bangladesh

Authors: Saptarshi Dhar, Tahira Farzana

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In Bangladesh, particularly in rural areas, persons with disabilities are generally isolated from the mainstream and are pushed to the margins of society. They are seen as an individual problem, not as a social responsibility. As a result, persons with disabilities face challenges to actively participate in social and economic activities. The country is experiencing a steady economic and per capita growth over the past few years and entrepreneurial opportunities are also increasing. However, involvement of persons with disabilities in entrepreneurship is yet to increase. The aim of this paper is to explore the issue of entrepreneurship for persons with disabilities through contribution of individuals and corporations in the context of social responsibility. The paper is exploratory in nature and is approached through a three-month research project 'Shwanirbhor' run by the authors in Pakshi area of Pabna District in Bangladesh. The authors collected data through semi structured questionnaire, interviews and focus group discussions. Through the project, persons with disabilities were provided with financial capital (collected through contribution of individuals and corporations), business plans and advisory assistance on a need basis to help them start entrepreneurial ventures. The findings of the study indicate that in terms of contribution toward a social cause, individuals and corporations have positive attitude and are willing to offer monetary and nonmonetary assistance. When provided with entrepreneurial opportunity, persons with disabilities showed motivation in joining entrepreneurship to improve their economic standing and to be financially independent. In addition to that, the study also found that factors such as social inclusion and acceptance, economic empowerment, breaking the social and family barrier are also the reasons that drive persons with disabilities into embracing entrepreneurship. Moreover, while starting and running the entrepreneurial activities, they face constraints that range from personal, environmental, operational and infrastructural to informational barriers. The paper also proposes a strategy framework for entrepreneurship creation in Bangladesh which could be supportive for policy development for persons with disabilities.

Keywords: Bangladesh, entrepreneurship, persons with disabilities (PWD), social responsibility

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886 Driving and Hindering Forces for the Care of Older People: experiences of Brazilian Family Caregivers

Authors: Adriane Amend, Leidiene Ferreira Santos, Daniella Pires Nunes

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The experience of assuming or caring for older persons dependents by relatives is a complex task that encompasses or affective involvement, the demand for technical activities and or psychological support. It would be necessary to understand the situations related to the caregiver, the person and the environment, which help the family difficulty, as a caregiver to lead this role. Objective: To identify the forces that drive and restrict the care process of family caregivers of the older adults. Method: Descriptive and exploratory research, with a qualitative approach, which has as a reference the Force Field Theory. Five family caregivers of older adult’s dependents residing in the city of Palmas, Tocantins, Brazil will participate. The data were collected from December 2021 to February 2022, through a semi-structured individual interview, and submitted to content analysis. Results: As forces that drive or process of caring for family caregivers were: the account of compassionate attitudes and patience of the caregiver (I); to the collaboration of the other person to the care and to the body structure of the same (Other); and the supports of other people not cared for and structural, such as adaptations in the room, read and bathroom, as in the presence of air conditioners (Environment). Among the restrictive forces of care we mention difficulties in delegating care to another person, or stress of care and other personal demands (I); imposition of the older person about care and e a transfer from bed to hip (Other); e lack of accessibility of the house and absence of air conditioning and hospital bed (Environment). Conclusion: The results show that there are driving forces with the caregiver's attitude and feelings, a bond as an idol and support for the caregiver and the environment. On the other hand, conflicting ties, absence of physical structure and daily and continuous care shifts, can significantly compromise well-being or the cycle of older adult, caregiver and care.

Keywords: caregivers, frail elderly, perception, geriatric nursing

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885 Factors Affecting Women's Participation in Social, Political and Economic Decision-Making Positions at Kelemwollega Zone, Western Ethiopia

Authors: T. Aragaw, P. Gari

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In spite of social, political, and economic marginalization, women are still considered as the backbone of Ethiopia, one of the least developed countries in the world. The general purpose of this study was to assess factors that affect participation of women in politics, social and economic decisions at Kelem-Wollega Administrative Zone of Oromia Regional State, Ethiopia. Data used in this paper is mainly primary, and a few secondary data were incorporated. Respondents were selected using a systematic random sampling method and were placed questionnaires containing open-ended and closed-ended. Focus group discussion was also used for the study subjects in two offices. According to the information collected from the KWAZ Development and Social Service Office, a total of 18,473 tax-paying employees are present in the Zone, which is 14% of the total population of the Zone. Among the total number of employees in the Zone, 2,617 have been recruited for this study based on the criteria stated. This showed 1.8% of them were comprised of several churches and religious owned integrated development projects in the KWAZ. The 2,103 (80.34%) study participants responded personally, and they completed and returned the questionnaire to the researchers. The study revealed that in public institutions existed in KWAZ, the majority of women were having an educational status of diploma and lower, practicing lower non-decision making and leadership positions. Conclusion: Major barriers hindering women include: Socio-cultural attitudes, lack of necessary experience, education, the burden of domestic responsibilities, and lack of role models of women leaders in the Zone. Empowerment of women via social organizations, critical involvement of the government, and Affirmative action for women is critical. Further research is needed on the scope and challenges in implementing the strategies.

Keywords: women, affirmative action, leadership, empowerment, Ethiopia

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884 Different Types of Amyloidosis Revealed with Positive Cardiac Scintigraphy with Tc-99M DPD-SPECT

Authors: Ioannis Panagiotopoulos, Efstathios Kastritis, Anastasia Katinioti, Georgios Efthymiadis, Argyrios Doumas, Maria Koutelou

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Introduction: Transthyretin amyloidosis (ATTR) is a rare but serious infiltrative disease. Myocardial scintigraphy with DPD has emerged as the most effective, non-invasive, highly sensitive, and highly specific diagnostic method for cardiac ATTR amyloidosis. However, there are cases in which additional laboratory investigations reveal AL amyloidosis or other diseases despite a positive DPD scintigraphy. We describe the experience from the Onassis Cardiac Surgery Center and the monitoring center for infiltrative myocardial diseases of the cardiology clinic at AHEPA. Materials and Methods: All patients with clinical suspicion of cardiac or extracardiac amyloidosis undergo a myocardial scintigraphy scan with Tc-99m DPD. In this way, over 500 patients have been examined. Further diagnostic approach based on clinical and imaging findings includes laboratory investigation and invasive techniques (e.g., biopsy). Results: Out of 76 patients in total with positive myocardial scintigraphy Grade 2 or 3 according to the Perugini scale, 8 were proven to suffer from AL Amyloidosis during the investigation of paraproteinemia. Among these patients, 3 showed Grade 3 uptake, while the rest were graded as Grade 2, or 2 to 3. Additionally, one patient presented diffuse and unusual radiopharmaceutical uptake in soft tissues throughout the body without cardiac involvement. These findings raised suspicions, leading to the analysis of κ and λ light chains in the serum, as well as immunostaining of proteins in the serum and urine of these specific patients. The final diagnosis was AL amyloidosis. Conclusion: The value of DPD scintigraphy in the diagnosis of cardiac amyloidosis from transthyretin is undisputed. However, positive myocardial scintigraphy with DPD should not automatically lead to the diagnosis of ATTR amyloidosis. Laboratory differentiation between ATTR and AL amyloidosis is crucial, as both prognosis and therapeutic strategy are dramatically altered. Laboratory exclusion of paraproteinemia is a necessary and essential step in the diagnostic algorithm of ATTR amyloidosis for all positive myocardial scintigraphy with diphosphonate tracers since >20% of patients with Grade 3 and 2 uptake may conceal AL amyloidosis.

Keywords: AL amyloidosis, amyloidosis, ATTR, myocardial scintigraphy, Tc-99m DPD

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883 An Elaborated Software Solution: The Tennis Ranking System

Authors: Dionysios Kakaroumpas, Jesseka Farago, Stephen Webber

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Athletes and spectators depend on the tennis ranking system to represent the truest caliber of athletic prowess; a careful look at the current ranking system though, reveals its main weakness: it undermines expectations of fans and players. Our study proposes several key changes to the existing ranking formula that provide a fair and accurate approach to measure player performance. The study proposes a modification of the system to value: participation, continued advancement, and overall achievement. The new ranking formula facilitates closing the trust gap, encouraging competition equality, engaging the fan base, attracting investment, and promoting tennis involvement worldwide. To probe the crux of our main contention we performed week-by-week comparisons between results procured from the current and proposed formulae. After performing this rigorous case-study of top players of each gender, the findings strongly indicated that there is identifiable inflation in the ranks and enhanced the conviction that the current system should be updated. The new system is accompanied by a web-based software package freely available to anyone involved or interested in tennis rankings. The software package is designed to automatically calculate new player rankings based on a responsive, multi-faceted formula that also generates projected point scenarios and provides separate rankings for the three different court surfaces. By taking a critical look at the current tennis ranking system with consideration to the perspective of fans, players, and businesses involved, an upgrade is in order for it to maintain the balance of trust between fans and the evaluation process. In closure, this proposed solution increases fair play competition, eliminates rank inflation, and better engages fans, players, and sponsors by bringing in a new era of professional tennis.

Keywords: measurement and evaluation, rules and regulations, sports management and marketing, tennis ranking system

Procedia PDF Downloads 254
882 Review Architectural Standards in Design and Development Children's Educational Centers

Authors: Ahmad Torkaman, Suogol Shomtob, Hadi Akbari Seddigh

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In this paper it has been attempted to investigate the lack of attention to how specific spatial characteristics of the children except existing places such as nurseries. In order to achieve the standard center to faster children understanding their mentality is the first issue that must be studied. Exploring the spiritual characteristics and complexities of children cannot be possible except in accordance with the different aspects and background of their growth in various age periods. In order to achieving the standard center for fostering children, the first issue that must be studied understands their mentality. Exploring the spiritual qualities and complexities of children are not provided except in accordance with the characteristics and their different growth backgrounds in different age periods. According to previous researches game or playing is the most important activity that helps children to communicate and educate and sometimes therapy in specific fields. Investigating game as a proper way to train, the variety of games, the various kind of play environment and how to treat some abnormalities thereby are the issues discussed in recent research. Another consideration concerns the importance of artistic activities among children which is very evident in studying identification of their abnormalities. At the end of this study after investigating how to understand child and communicate with him/her, aiming to recognize Specific spatial characteristics for better training children, the physical and physiological criteria and characteristics is Reviewed and ends up to a list of required spaces and dimensional characteristic of spaces and needed children's equipment.

Keywords: children, space, interior design, development, growth

Procedia PDF Downloads 318
881 Dutch Disease and Industrial Development: An Investigation of the Determinants of Manufacturing Sector Performance in Nigeria

Authors: Kayode Ilesanmi Ebenezer Bowale, Dominic Azuh, Busayo Aderounmu, Alfred Ilesanmi

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There has been a debate among scholars and policymakers about the effects of oil exploration and production on industrial development. In Nigeria, there were many reforms resulting in an increase in crude oil production in the recent past. There is a controversy on the importance of oil production in the development of the manufacturing sector in Nigeria. Some scholars claim that oil has been a blessing to the development of the manufacturing sector, while others regard it as a curse. The objective of the study is to determine if empirical analysis supports the presence of Dutch Disease and de-industrialisation in the Nigerian manufacturing sector between 2019- 2022. The study employed data that were sourced from World Development Indicators, Nigeria Bureau of Statistics, and the Central Bank of Nigeria Statistical Bulletin on manufactured exports, manufacturing employment, agricultural employment, and service employment in line with the theory of Dutch Disease using the unit root test to establish their level of stationarity, Engel and Granger cointegration test to check their long-run relationship. Autoregressive. Distributed Lagged bound test was also used. The Vector Error Correction Model will be carried out to determine the speed of adjustment of the manufacturing export and resource movement effect. The results showed that the Nigerian manufacturing industry suffered from both direct and indirect de-industrialisation over the period. The findings also revealed that there was resource movement as labour moved away from the manufacturing sector to both the oil sector and the services sector. The study concluded that there was the presence of Dutch Disease in the manufacturing industry, and the problem of de-industrialisation led to the crowding out of manufacturing output. The study recommends that efforts should be made to diversify the Nigerian economy. Furthermore, a conducive business environment should be provided to encourage more involvement of the private sector in the agriculture and manufacturing sectors of the economy.

Keywords: Dutch disease, resource movement, manufacturing sector performance, Nigeria

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880 Protection of Human Rights in Polish Centres for Foreigners – in the Context of the European Human Rights System

Authors: Oktawia Braniewicz

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The phenomenon of emigration and migration increasingly affects Poland's borders as well. For this reason, it is necessary to examine the level of protection of Human Rights in Polish Centres for Foreigners. The field study covered 11 centers for Foreigners in the provinces Kujawsko-Pomorskie Region, Lubelskie Region, Lodzkie Region, Mazowieckie Region and Podlaskie Region. Photographic documentation of living and social conditions, conversations with center employees and refugees allow to show a comprehensive picture of the situation prevailing in Centres for Foreigners. The object of reflection will be, in particular, the standards resulting from art. 8 and 13 of the Convention for the Protection of Human Rights and Fundamental Freedoms and article 2 of Protocol No. 1 to the Convention for the Protection of Human Rights and Fundamental Freedoms. The degree of realization of the right to education and the right to respect for family and private life will be shown. Issues related to learning the Polish language, access to a professional translator and psychological help will also be approximated. Learning Polish is not obligatory, which causes problems with assimilation and integration with other members of the new community. In centers for foreigners, there are no translators - a translator from an external company is rented if necessary. The waiting time for an interpreter makes the refugees feel anxious, unable to communicate with the employees of the centers (this is a situation in which the refugees do not know either English, Polish or Russian). Psychologist's help is available on designated days of the week. There is no separate specialist in child psychology, which is a serious problem.

Keywords: human rights, Polish centres, foreigners, fundamental freedoms

Procedia PDF Downloads 117
879 LTF Expression Profiling Which is Essential for Cancer Cell Proliferation and Metastasis, Correlating with Clinical Features, as Well as Early Stages of Breast Cancer

Authors: Azar Heidarizadi, Mahdieh Salimi, Hossein Mozdarani

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Introduction: As a complex disease, breast cancer results from several genetic and epigenetic changes. Lactoferrin, a member of the transferrin family, is reported to have a number of biological functions, including DNA synthesis, immune responses, iron transport, etc., any of which could play a role in tumor progression. The aim of this study was to investigate the bioinformatics data and experimental assay to find the pattern of promoter methylation and gene expression of LTF in breast cancer in order to study its potential role in cancer management. Material and Methods: In order to evaluate the methylation status of the LTF promoter, we studied the MS-PCR and Real-Time PCR on samples from patients with breast cancer and normal cases. 67 patient samples were conducted for this study, including tumoral, plasma, and normal tissue adjacent samples, as well as 30 plasma from normal cases and 10 tissue breast reduction cases. Subsequently, bioinformatics analyses such as cBioPortal databases, string, and genomatix were conducted to disclose the prognostic value of LTF in breast cancer progression. Results: The analysis of LTF expression showed an inverse relationship between the expression level of LTF and the stages of tissues of breast cancer patients (p<0.01). In fact, stages 1 and 2 had a high expression in LTF, while, in stages 3 and 4, a significant reduction was observable (p < 0.0001). LTF expression frequently alters with a decrease in the expression in ER⁺, PR⁺, and HER2⁺ patients (P < 0.01) and an increase in the expression in the TNBC, LN¯, ER¯, and PR- patients (P < 0.001). Also, LTF expression is significantly associated with metastasis and lymph node involvement factors (P < 0.0001). The sensitivity and specificity of LTF were detected, respectively. A negative correlation was detected between the results of level expression and methylation of the LTF promoter. Conclusions: The altered expression of LTF observed in breast cancer patients could be considered as a promotion in cell proliferation and metastasis even in the early stages of cancer.

Keywords: LTF, expression, methylation, breast cancer

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878 Whole Exome Sequencing Data Analysis of Rare Diseases: Non-Coding Variants and Copy Number Variations

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

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

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

Procedia PDF Downloads 402