Search results for: cardio-metabolic risk factors
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 14991

Search results for: cardio-metabolic risk factors

11421 A Conundrum of Teachability and Learnability of Deaf Adult English as Second Language Learners in Pakistani Mainstream Classrooms: Integration or Elimination

Authors: Amnah Moghees, Saima Abbas Dar, Muniba Saeed

Abstract:

Teaching a second language to deaf learners has always been a challenge in Pakistan. Different approaches and strategies have been followed, but they have been resulted into partial or complete failure. The study aims to investigate the language problems faced by adult deaf learners of English as second language in mainstream classrooms. Moreover, the study also determines the factors which are very much involved in language teaching and learning in mainstream classes. To investigate the language problems, data will be collected through writing samples of ten deaf adult learners and ten normal ESL learners of the same class; whereas, observation in inclusive language teaching classrooms and interviews from five ESL teachers in inclusive classes will be conducted to know the factors which are directly or indirectly involved in inclusive language education. Keeping in view this study, qualitative research paradigm will be applied to analyse the corpus. The study figures out that deaf ESL learners face severe language issues such as; odd sentence structures, subject and verb agreement violation, misappropriation of verb forms and tenses as compared to normal ESL learners. The study also predicts that in mainstream classrooms there are multiple factors which are affecting the smoothness of teaching and learning procedure; role of mediator, level of deaf learners, empathy of normal learners towards deaf learners and language teacher’s training.

Keywords: deaf English language learner, empathy, mainstream classrooms, previous language knowledge of learners, role of mediator, language teachers' training

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11420 Overexpression of CAS8 Enhances Necroptosis and Metastasis in Iranian Sporadic Colorectal Cancer

Authors: Sayed Ali Garossi, Azar Heidarizadi, Shahla Mohammad Ganji

Abstract:

Context: Colorectal cancer is the second type of cancer-related mortality globally. Expression of cas8 (caspase 8) is closely connected to growth and metastasis of colorectal cancer.Cas8/Rip1 plays a vital role in the apoptosis pathway and resistance to chemotherapy. The aim of the present study is to investigate the pattern of gene expression in colorectal cancer and compare the differences using Real-Time PCR to find a potential biomarker candidate for colorectal cancer. Methodology: This study conducted real-time PCR to evaluate gene expression of Cas8 in colorectal cancer patients. The gene-specific primer sequences exon–exon junction was designed by OLIGO7 software for the expression of the gene under investigation. Forty-six patient samples without any chemotherapy were selected, including tumoral tissue and adjacent normal tissue samples. The age of the patients was 50 and the size of the tumors was 5.5 cm. The categories were before and after age 50. Findings: Here, we found that Caspase 8 was overexpressed in CRC tissues compared to corresponding adjacent colon tissues (Cas8: 5.2 vs. 1 ratio); high expression of Cas8 was associated with poor overall survival and independent risk factors for the prognosis of CRC patients. Conclusion: In conclusion, our study pioneered the reporting of high Casp8 expression as a predictor of poor prognosis and chemical resistance in CRC patients.Cas8 overexpression suppressed Cas 8 / Rip1-dependent apoptosis and activated the proliferation of tumor cells by activating necroptosis. The necroptosis pathway has also emerged as a new approach to anti-tumor in cancer treatment.

Keywords: Cas8, necroptosis, apoptosis, Real-Time PCR

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11419 Radiation Safety Factor of Education and Research Institution in Republic of Korea

Authors: Yeo Ryeong Jeon, Pyong Kon Cho, Eun Ok Han, Hyon Chul Jang, Yong Min Kim

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This study surveyed on recognition related to radiation safety for radiation safety managers and workers those who have been worked in Republic of Korea education and research institution. At present, South Korea has no guideline and manual of radiation safety for education and research institution. Therefore, we tried to find an educational basis for development of radiation safety guideline and manual. To check the level of knowledge, attitude, and behavior about radiation safety, we used the questionnaire that consisted of 29 questions against knowledge, attitude and behavior, 4 questions against self-efficacy and expectation based on four factors (radiation source, human, organizational and physical environment) of the Haddon's matrix. Responses were collected between May 4 and June 30, 2015. We analyzed questionnaire by means of IBM SPSS/WIN 15 which well known as statistical package for social science. The data were compared with mean, standard deviation, Pearson's correlation, ANOVA (analysis of variance) and regression analysis. 180 copies of the questionnaire were returned from 60 workplaces. The overall mean results for behavior level was relatively lower than knowledge and attitude level. In particular, organizational environment factor on the radiation safety management indicated the lowest behavior level. Most of the factors were correlated in Pearson’s correlation analysis, especially between knowledge of human factors and behavior of human factors (Pearson’s correlation coefficient 0.809, P<.01). When analysis performed in line with the main radiation source type, institutions where have been used only opened RI (radioisotope) behavior level was the lowest among all subjects. Finally, knowledge of radiation source factor (β=0.556, P<.001) and human factor(β=0.376, P<.001) had the greatest impact in terms of behavior practice. Radiation safety managers and workers think positively about radiation safety management, but are poorly informed organizational environment of their institution. Thus, each institution need to efforts to settlement of radiation safety culture. Also, pedagogical interventions for improving knowledge on radiation safety needs in terms of safety accident prevention.

Keywords: radiation safety management, factor analysis, SPSS, republic of Korea

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11418 Non-Candida Albicans Candida: Virulence Factors and Species Identification in India

Authors: Satender Saraswat, Dharmendra Prasad Singh, Rajesh Kumar Verma, Swati Sarswat

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Background and Purpose: The predominant cause of candidiasis was Candida albicans which has shifted towards non-Candida albicans Candida (NCAC) (Candida species other than the C. albicans). NCAC, earlier considered non-pathogenic or minimally virulent, are now considered a primary cause of morbidity and mortality in immunocompromised. With the NCAC spp. gaining weightage in the clinical cases, this study was conducted to determine the prevalence of NCAC spp. in different clinical specimens and to assess a few of their virulence factors. Material and Methods: Routine samples for bacterial culture and sensitivity, showing colony characteristics like Candida on Blood Agar and microscopic features resembling Candida spp. were processed further. Candida isolates were tested for chlamydospore formation, biochemical tests including sugar fermentation and sugar assimilation tests, and growth at 42oC, colony colour on HiCrome™ Candida Differential Agar, HiCandida Identification Kit and VITEK-2 Compact. Virulence factors like adherence to buccal epithelial cells (ABEC), biofilm formation, hemolytic activity, and production of coagulase enzyme were also tested. Results: Mean age of the patients was 38.46 with a male-female ratio of 1.36:1. 137 Candida isolates were recovered. 45.3% isolates were isolated from urine, 19.7% from vaginal swabs and 13.9% from oropharyngeal swabs. 55 (40.1%) isolates of C. albicans and 82 (59.9%) of NCAC spp. were identified, with C. tropicalis (23.4%) in NCAC. C. albicans (3; 50%) was the commonest species in cases of candidemia. Haemolysin production (85.5%) and ABEC (78.2%) were the major virulence factors in C. albicans. C. tropicalis (59.4%) and C. dubliniensis (50%) showed maximum ABEC. Biofilm forming capacity was higher in C. tropicalis (78.1%) than C. albicans (67%). Conclusion: This study suggests varied prevalence and virulence based on geographical locations, even within a subcontinent. It clearly demarcates the emergence of NCAC and their predominance in different body fluids. Identification of Candida to species level should become a routine in all the laboratories.

Keywords: ABEC, NCAC, non-Candida albicans Candida, Vitek-2TM compact

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11417 Development of Management Model for Promoting Sustainable Tourism of Rajabhat Universities in Thailand

Authors: Weera Weerasophon

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This research paper is to study the development of a management model for promoting sustainable tourism of Rajabhat universities in Thailand. Mixed Method Research is applied under the said topic. The researcher has developed a management model to promote sustainable tourism. The objectives of the research are 1) to study the readiness in management sustainable tourism of Rajabhat universities in Thailand 2) to develop a management model for promoting sustainable tourism of those universities. The process of this research is organized in two steps according to the objectives. The results of the research are as in the following: 1. Rajabhat universities have the readiness in management for promoting sustainable tourism. The universities can be developed to be sustainable tourist attraction under the admistrators who have vision and realize the importance of tourism, eager to promote sustainable tourism of the universities by specifying obvious policy plans and management. 2. The management model for promoting sustainable tourism of Rajabhat universities is consisted of the main following factors : 2.1 Master plan and policy, 2.2 Rajabhat universities organization management and personnel administration, 2.3 Assignment and authority, leadership, 2.4 Join network, 2.5 Assurance of quality and controlling, 2.6 Budget management, 2.7 Human Resources management, 2.8 Alliance and co-ordination, 2.9 Tool of marketing. There are also other communal factors for promoting sustainable tourism. They are: local communities, local communities, tourism activities, government and private sectors, communicative technology system, history, tourist attractive, art and culture, internal and external environment including local wisdom heritage. The management model for promoting sustainable tourism can be concluded from these main and communal factors mentioned above.

Keywords: tourism, sustainable tourism, management, Rajabhat University

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11416 Emotional Awareness and Working Memory as Predictive Factors for the Habitual Use of Cognitive Reappraisal among Adolescents

Authors: Yuri Kitahara

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Background: Cognitive reappraisal refers to an emotion regulation strategy in which one changes the interpretation of emotion-eliciting events. Numerous studies show that cognitive reappraisal is associated with mental health and better social functioning. However the examination of the predictive factors of adaptive emotion regulation remains as an issue. The present study examined the factors contributing to the habitual use of cognitive reappraisal, with a focus on emotional awareness and working memory. Methods: Data was collected from 30 junior high school students, using a Japanese version of the Emotion Regulation Questionnaire (ERQ), the Levels of Emotional Awareness Scale for Children (LEAS-C), and N-back task. Results: A positive correlation between emotional awareness and cognitive reappraisal was observed in the high-working-memory group (r = .54, p < .05), whereas no significant relationship was found in the low-working-memory group. In addition, the results of the analysis of variance (ANOVA) showed a significant interaction between emotional awareness and working memory capacity (F(1, 26) = 7.74, p < .05). Subsequent analysis of simple main effects confirmed that high working memory capacity significantly increases the use of cognitive reappraisal for high-emotional-awareness subjects, and significantly decreases the use of cognitive reappraisal for low-emotional-awareness subjects. Discussion: These results indicate that under the condition when one has an adequate ability for simultaneous processing of information, explicit understanding of emotion would contribute to adaptive cognitive emotion regulation. The findings are discussed along with neuroscientific claims.

Keywords: cognitive reappraisal, emotional awareness, emotion regulation, working memory

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11415 Multivariate Analysis of Causes of Death among Hepatocellular Carcinoma Patients: A Seer-Based Study

Authors: Peri Harish Kumar, Sai Sharan Dwarka, Tajbinder Singh Bains, Suneet John Joseph, Chaitanya Kiran, Sambhu Dutta, Sarah Makram, Mohamed Sayed Zaazouee, Alaa Ahmed Elshanbary

Abstract:

Objective: To identify cancer and non-cancer causes of death in hepatocellular carcinoma (HCC) patients over different time periods after diagnosis and to compare the mortality risk of each cause in HCC patients with the general population. Methods: In this retrospective cohort study, data of 67,637 HCC patients from 1975 to 2016 were collected from the Surveillance, Epidemiology, and End Results (SEER) database. We investigated the association between different causes of death and the following variables: age, race, tumor stage at diagnosis, and treatment (surgery, chemotherapy, and radiotherapy); each according to the periods of <1 year, 1-5 years, 5-10 years, and >10 years following the diagnosis. Standardized mortality ratios (SMRs) and their 95% confidence intervals (CIs) were calculated for cancer and non-cancer deaths in each of the mentioned periods following diagnosis. Results: Data of 67,637 patients, of whom 50,571 patients died during the follow-up period, were analyzed. Most deaths were due to HCC itself (35,535, 70.3%), followed by other cancers (3,983, 7.9%). Common causes of non-cancer mortality included infectious and parasitic diseases including HIV (2,823 patients, SMR=105.68, 95% CI: 101.82-109.65), chronic liver disease (2,719 patients, SMR=76.56, 95% CI: 73.71,79.5), and heart diseases (1,265 patients, SMR=2.26, 95% CI: 2.14-2.39), with higher mortality risk in HCC patients than in the general population. Conclusion: Cancers stand for most deaths in patients with HCC. Besides, infectious, and parasitic diseases including HIV represent the commonest non-cancer cause of mortality.

Keywords: hepatocellular carcinoma, seer, causes of death, mortality

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11414 Changes in Skin Microbiome Diversity According to the Age of Xian Women

Authors: Hanbyul Kim, Hye-Jin Kin, Taehun Park, Woo Jun Sul, Susun An

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Skin is the largest organ of the human body and can provide the diverse habitat for various microorganisms. The ecology of the skin surface selects distinctive sets of microorganisms and is influenced by both endogenous intrinsic factors and exogenous environmental factors. The diversity of the bacterial community in the skin also depends on multiple host factors: gender, age, health status, location. Among them, age-related changes in skin structure and function are attributable to combinations of endogenous intrinsic factors and exogenous environmental factors. Skin aging is characterized by a decrease in sweat, sebum and the immune functions thus resulting in significant alterations in skin surface physiology including pH, lipid composition, and sebum secretion. The present study gives a comprehensive clue on the variation of skin microbiota and the correlations between ages by analyzing and comparing the metagenome of skin microbiome using Next Generation Sequencing method. Skin bacterial diversity and composition were characterized and compared between two different age groups: younger (20 – 30y) and older (60 - 70y) Xian, Chinese women. A total of 73 healthy women meet two conditions: (I) living in Xian, China; (II) maintaining healthy skin status during the period of this study. Based on Ribosomal Database Project (RDP) database, skin samples of 73 participants were enclosed with ten most abundant genera: Chryseobacterium, Propionibacterium, Enhydrobacter, Staphylococcus and so on. Although these genera are the most predominant genus overall, each genus showed different proportion in each group. The most dominant genus, Chryseobacterium was more present relatively in Young group than in an old group. Similarly, Propionibacterium and Enhydrobacter occupied a higher proportion of skin bacterial composition of the young group. Staphylococcus, in contrast, inhabited more in the old group. The beta diversity that represents the ratio between regional and local species diversity showed significantly different between two age groups. Likewise, The Principal Coordinate Analysis (PCoA) values representing each phylogenetic distance in the two-dimensional framework using the OTU (Operational taxonomic unit) values of the samples also showed differences between the two groups. Thus, our data suggested that the composition and diversification of skin microbiomes in adult women were largely affected by chronological and physiological skin aging.

Keywords: next generation sequencing, age, Xian, skin microbiome

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11413 Diverse High-Performing Teams: An Interview Study on the Balance of Demands and Resources

Authors: Alana E. Jansen

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With such a large proportion of organisations relying on the use of team-based structures, it is surprising that so few teams would be classified as high-performance teams. While the impact of team composition on performance has been researched frequently, there have been conflicting findings as to the effects, particularly when examined alongside other team factors. To broaden the theoretical perspectives on this topic and potentially explain some of the inconsistencies in research findings left open by other various models of team effectiveness and high-performing teams, the present study aims to use the Job-Demands-Resources model, typically applied to burnout and engagement, as a framework to examine how team composition factors (particularly diversity in team member characteristics) can facilitate or hamper team effectiveness. This study used a virtual interview design where participants were asked to both rate and describe their experiences, in one high-performing and one low-performing team, over several factors relating to demands, resources, team composition, and team effectiveness. A semi-structured interview protocol was developed, which combined the use of the Likert style and exploratory questions. A semi-targeted sampling approach was used to invite participants ranging in age, gender, and ethnic appearance (common surface-level diversity characteristics) and those from different specialties, roles, educational and industry backgrounds (deep-level diversity characteristics). While the final stages of data analyses are still underway, thematic analysis using a grounded theory approach was conducted concurrently with data collection to identify the point of thematic saturation, resulting in 35 interviews being completed. Analyses examine differences in perceptions of demands and resources as they relate to perceived team diversity. Preliminary results suggest that high-performing and low-performing teams differ in perceptions of the type and range of both demands and resources. The current research is likely to offer contributions to both theory and practice. The preliminary findings suggest there is a range of demands and resources which vary between high and low-performing teams, factors which may play an important role in team effectiveness research going forward. Findings may assist in explaining some of the more complex interactions between factors experienced in the team environment, making further progress towards understanding the intricacies of why only some teams achieve high-performance status.

Keywords: diversity, high-performing teams, job demands and resources, team effectiveness

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11412 Pyrolysis and Combustion Kinetics of Palm Kernel Shell Using Thermogravimetric Analysis

Authors: Kanit Manatura

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The combustion and pyrolysis behavior of Palm Kernel Shell (PKS) were investigated in a thermogravimetric analyzer. A 10 mg sample of each biomass was heated from 30 °C to 800 °C at four heating rates (within 5, 10, 15 and 30 °C/min) in nitrogen and dry air flow of 20 ml/min instead of pyrolysis and combustion process respectively. During pyrolysis, thermal decomposition occurred on three different stages include dehydration, hemicellulose-cellulose and lignin decomposition on each temperature range. The TG/DTG curves showed the degradation behavior and the pyrolysis/combustion characteristics of the PKS samples which led to apply in thermogravimetric analysis. The kinetic factors including activation energy and pre-exponential factor were determined by the Coats-Redfern method. The obtained kinetic factors are used to simulate the thermal decomposition and compare with experimental data. Rising heating rate leads to shift the mass loss towards higher temperature.

Keywords: combustion, palm kernel shell, pyrolysis, thermogravimetric analyzer

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11411 Practical Limitations of the Fraud Triangle Framework in Fraud Prevention

Authors: Alexander Glebovskiy

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Practitioners charged with fraud prevention and investigation strongly rely on the Fraud Triangle framework developed by Joseph T. Wells in 1997 while analyzing the causes of fraud at business organizations. The Fraud Triangle model explains fraud by elements such as pressure, opportunity, and rationalization. This view is not fully suitable for effective fraud prevention as the Fraud Triangle model provides limited insight into the causation of fraud. Fraud is a multifaceted phenomenon, the contextual factors of which may not fit into any framework. Employee criminal behavior in business organizations is influenced by environmental, individual, and organizational aspects. Therefore, further criminogenic factors and processes facilitating fraud in organizational settings need to be considered in the root-cause analysis: organizational culture, leadership style, groupthink effect, isomorphic behavior, crime of obedience, displacement of responsibility, lack of critical thinking and unquestioning conformity and loyalty.

Keywords: criminogenesis, fraud triangle, fraud prevention, organizational culture

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11410 Household Choice of Working from Home before and after COVID-19

Authors: Ravipa Rojasavachai, Li Yang

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Working from home has become a global phenomenon after the coronavirus outbreak, and most employees have a choice to choose between working from home or the office. In this paper, we examine the demographics and socio-economics factors influencing individuals’ decision to choose working from home rather than the office before and after the coronavirus outbreak based on Australian household data. We find that all factors impact the working from home choice before the coronavirus outbreak, but the number of children turns to an uninfluenced factor on individuals’ choices after the outbreak. We also find that female employees have a higher probability of choosing to work from home after the coronavirus outbreak. This is because they have less concern for their career opportunities and higher wage premium of working from home due to the changing in cultural norms and advanced working from home technologies in companies after the coronavirus outbreak.

Keywords: work from home, telework, remote working, COVID-19, pandemic, wage

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11409 GIS Technology for Environmentally Polluted Sites with Innovative Process to Improve the Quality and Assesses the Environmental Impact Assessment (EIA)

Authors: Hamad Almebayedh, Chuxia Lin, Yu wang

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The environmental impact assessment (EIA) must be improved, assessed, and quality checked for human and environmental health and safety. Soil contamination is expanding, and sites and soil remediation activities proceeding around the word which simplifies the answer “quality soil characterization” will lead to “quality EIA” to illuminate the contamination level and extent and reveal the unknown for the way forward to remediate, countifying, containing, minimizing and eliminating the environmental damage. Spatial interpolation methods play a significant role in decision making, planning remediation strategies, environmental management, and risk assessment, as it provides essential elements towards site characterization, which need to be informed into the EIA. The Innovative 3D soil mapping and soil characterization technology presented in this research paper reveal the unknown information and the extent of the contaminated soil in specific and enhance soil characterization information in general which will be reflected in improving the information provided in developing the EIA related to specific sites. The foremost aims of this research paper are to present novel 3D mapping technology to quality and cost-effectively characterize and estimate the distribution of key soil characteristics in contaminated sites and develop Innovative process/procedure “assessment measures” for EIA quality and assessment. The contaminated site and field investigation was conducted by innovative 3D mapping technology to characterize the composition of petroleum hydrocarbons contaminated soils in a decommissioned oilfield waste pit in Kuwait. The results show the depth and extent of the contamination, which has been interred into a developed assessment process and procedure for the EIA quality review checklist to enhance the EIA and drive remediation and risk assessment strategies. We have concluded that to minimize the possible adverse environmental impacts on the investigated site in Kuwait, the soil-capping approach may be sufficient and may represent a cost-effective management option as the environmental risk from the contaminated soils is considered to be relatively low. This research paper adopts a multi-method approach involving reviewing the existing literature related to the research area, case studies, and computer simulation.

Keywords: quality EIA, spatial interpolation, soil characterization, contaminated site

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11408 Factors Affecting eHealth Literacy among Nursing Students in Jordan

Authors: Laila Habiballah, Ahmad Tubaishat

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Background: with the development of information and communication technology, using the internet as a source to obtain health information is increasing. Nursing students as future health care providers should have the skills of locating, evaluating and using online health information. This will enable them to help their patients and families to make informed decisions. Aim: this study has a two-fold aim. The first is to assess the eHealth literacy among nursing students in Jordan. The second aim is to explore the factors that have an effect on the eHealth literacy. Methods: this is a descriptive cross-sectional survey that conducted in two universities in Jordan; public and private one. A number of 541 students from both universities were completed the eHEALS scale, which is an instrument designed to measure the eHealth literacy. Some additional personal and demographical variable were collected to explore its effect on eHealth literacy. Results: Students have a high perceived level of e-Health literacy (M=3.62, SD=0.58). They are aware of the available online health resources, know how to search, locate, and use these resources. But, they do not have the skills to evaluate these resources and cannot differentiate between the high and low-quality resources. The results showed as well that type of university, type of students' admission, academic level, students' skills of using the internet, and the perception of usefulness and importance of internet have an effect on the eHealth literacy. While the age, gender, GPA, and the frequency of using the internet was no significant factors. Conclusion: This study represents a baseline reference for the eHealth literacy in Jordan. Students have some skills of eHealth literacy and other skills need to be improved. Nursing educators and administrators should integrate and incorporate the skills of eHealth literacy in the curriculum.

Keywords: eHealth, literacy, nursing, students, Jordan

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11407 Investigating the Effective Factors on Product Performance and Prioritizing Them: Case Study of Pars-Khazar Company

Authors: Ebrahim Sabermaash Eshghi, Donna Sandsmark

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Nowadays, successful companies try to create a reliable and unique competitive position in the market. It is important to consider that only choosing and codifying a competitive strategy appropriate with the market conditions does not have any influence on the final performance of the company by itself, but it is the connection and interaction between upstream level strategies and functional level strategies which leads to development of company performance in its operating environment. Given the importance of the subject, this study tries to investigate effective factors on product performance and prioritize them. This study was done with quantitative-qualitative approach (interview and questionnaire). In sum, 103 informed managers and experts of Pars-Khazar Company were investigated in a census. Validity of measure tools was approved through experts’ judgments. Reliability of the tools was also gained through Cronbach's Alpha Coefficient as 0.930 and in sum, validity and reliability of the tools was approved generally. Analysis of collected data was done through Spearman Correlation Test and Friedman Test using SPSS software. The results showed that management of distribution and demand process (0.675), management of Product Pre-test (0.636) and Manufacturing and inventory management(0.628) had the highest correlation with product performance. Prioritization of factors of structure of launching new products based on the average showed that management of volume of launched products and Manufacturing and inventory management had the most importance.

Keywords: product performance, home appliances, market, case study

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11406 Effectiveness of Balloon Angioplasty and Stent Angioplasty: Wound Healing in Critically Limb Ischemic

Authors: M. Wisnu Pamungkas, Patrianef Darwis

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Introduction: Critical limb ischemia (CLI) is a vascular disease that has a significant amputation and mortality risk with diabetes mellitus, the most significant risk factor in CLI, is very common among Indonesian. Endovascular intervention (EVI) is preferred in treating CLI because it is noninvasive and effective. Balloon angioplasty and stent angioplasty are the most common method of EVI in Indonesia. This study aims to compare the effectiveness of balloon angioplasty and stent angioplasty on wound healing in CLI. Method: A cross-sectional study enrolled 90 subjects of CLI who underwent endovascular intervention using balloon angioplasty and stent angioplasty from January 2013 to July 2017 in dr. Cipto Mangunkusumo General Hospital, Jakarta. The wound healing period between balloon angioplasty dan stent angioplasty was analyzed using unpaired T-test with p<0,05 considered as statistically significant. Data of intervention method wound healing period, and subjects characteristic data (age, amputation, BMI, smoking habit, DM, occlusion site, and blood profile) were obtained. Result: The wound healing period in balloon angioplasty and stent angioplasty distributed normally. Mean value of wound healing period in balloon angioplasty and stent angioplasty are 84,8+/-2,423 and 59,93 +/- 2,423 days with a mean difference of 25 days. The difference in wound healing period in both groups is statically significant (p<0,05). The amputation event in balloon angioplasty and stent angioplasty is 22 and 16 event with no difference statistically. Conclusion: Stent angioplasty is a better method than balloon angioplasty for wound healing in patients with CLI.

Keywords: critical limb ischemia, endovascular intervention, wound healing, angioplasty

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11405 Effectiveness of Weather Index Insurance for Smallholders in Ethiopia

Authors: Federica Di Marcantonio, Antoine Leblois, Wolfgang Göbel, Hervè Kerdiles

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Weather-related shocks can threaten the ability of farmers to maintain their agricultural output and food security levels. Informal coping mechanisms (i.e. migration or community risk sharing) have always played a significant role in mitigating the negative effects of weather-related shocks in Ethiopia, but they have been found to be an incomplete strategy, particularly as a response to covariate shocks. Particularly, as an alternative to the traditional risk pooling products, an innovative form of insurance known as Index-based Insurance has received a lot of attention from researchers and international organizations, leading to an increased number of pilot initiatives in many countries. Despite the potential benefit of the product in protecting the livelihoods of farmers and pastoralists against climate shocks, to date there has been an unexpectedly low uptake. Using information from current pilot projects on index-based insurance in Ethiopia, this paper discusses the determinants of uptake that have so far undermined the scaling-up of the products, by focusing in particular on weather data availability, price affordability and willingness to pay. We found that, aside from data constraint issues, high price elasticity and low willingness to pay represent impediments to the development of the market. These results, bring us to rethink the role of index insurance as products for enhancing smallholders’ response to covariate shocks, and particularly for improving their food security.

Keywords: index-based insurance, willingness to pay, satellite information, Ethiopia

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11404 Theoretical-Methodological Model to Study Vulnerability of Death in the Past from a Bioarchaeological Approach

Authors: Geraldine G. Granados Vazquez

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Every human being is exposed to the risk of dying; wherein some of them are more susceptible than others depending on the cause. Therefore, the cause could be the hazard to die that a group or individual has, making this irreversible damage the condition of vulnerability. Risk is a dynamic concept; which means that it depends on the environmental, social, economic and political conditions. Thus vulnerability may only be evaluated in terms of relative parameters. This research is focusing specifically on building a model that evaluate the risk or propensity of death in past urban societies in connection with the everyday life of individuals, considering that death can be a consequence of two coexisting issues: hazard and the deterioration of the resistance to destruction. One of the most important discussions in bioarchaeology refers to health and life conditions in ancient groups; the researchers are looking for more flexible models that evaluate these topics. In that way, this research proposes a theoretical-methodological model that assess the vulnerability of death in past urban groups. This model pretends to be useful to evaluate the risk of death, considering their sociohistorical context, and their intrinsic biological features. This theoretical and methodological model, propose four areas to assess vulnerability. The first three areas use statistical methods or quantitative analysis. While the last and fourth area, which corresponds to the embodiment, is based on qualitative analysis. The four areas and their techniques proposed are a) Demographic dynamics. From the distribution of age at the time of death, the analysis of mortality will be performed using life tables. From here, four aspects may be inferred: population structure, fertility, mortality-survival, and productivity-migration, b) Frailty. Selective mortality and heterogeneity in frailty can be assessed through the relationship between characteristics and the age at death. There are two indicators used in contemporary populations to evaluate stress: height and linear enamel hypoplasias. Height estimates may account for the individual’s nutrition and health history in specific groups; while enamel hypoplasias are an account of the individual’s first years of life, c) Inequality. Space reflects various sectors of society, also in ancient cities. In general terms, the spatial analysis uses measures of association to show the relationship between frail variables and space, d) Embodiment. The story of everyone leaves some evidence on the body, even in the bones. That led us to think about the dynamic individual's relations in terms of time and space; consequently, the micro analysis of persons will assess vulnerability from the everyday life, where the symbolic meaning also plays a major role. In sum, using some Mesoamerica examples, as study cases, this research demonstrates that not only the intrinsic characteristics related to the age and sex of individuals are conducive to vulnerability, but also the social and historical context that determines their state of frailty before death. An attenuating factor for past groups is that some basic aspects –such as the role they played in everyday life– escape our comprehension, and are still under discussion.

Keywords: bioarchaeology, frailty, Mesoamerica, vulnerability

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11403 Testicular Differential MicroRNA Expression Derived Occupational Risk Factor Assessment in Idiopathic Non-obstructive Azoospermia Cases

Authors: Nisha Sharma, Mili Kaur, Ashutosh Halder, Seema Kaushal, Manoj Kumar, Manish Jain

Abstract:

Purpose: To investigate microRNAs (miRNA) as an epigenomic etiological factor in idiopathic non-obstructive azoospermia (NOA). In order to achieve the same, an association was seen between occupational exposure to radiation, thermal, and chemical factors and idiopathic cases of non-obstructive azoospermia, and later, testicular differential miRNA expression profiling was done in exposure group NOA cases. Method: It is a prospective study in which 200 apparent idiopathic male factor infertility cases, who have been advised to undergo testicular fine needle aspiration (FNA) evaluation, are recruited. A detailed occupational history was taken to understand the possible type of exposure due to the nature and duration of work. A total of 26 patients were excluded upon XY-FISH and Yq microdeletion tests due to the presence of genetic causes of infertility, 6 hypospermatogeneis (HS), six Sertoli cell-only syndrome (SCOS), and six normospermatogeneis patients testicular FNA samples were used for RNA isolation followed by small RNA sequencing and nCounter miRNA expression analysis. Differential miRNA expression profile of HS and SCOS patients was done. A web-based tool, miRNet, was used to predict the interacting compounds or chemicals using the shortlisted miRNAs with high fold change. The major limitation encountered in this study was the insufficient quantity of testicular FNA sample used for total RNA isolation, which resulted in a low yield and RNA integrity number (RIN) value. Therefore, the number of RNA samples admissible for differential miRNA expression analysis was very small in comparison to the total number of patients recruited. Results: Differential expression analysis revealed 69 down-regulated and 40 up-regulated miRNAs in HS and 66 down-regulated and 33 up-regulated miRNAs in SCOS in comparison to normospermatogenesis controls. The miRNA interaction analysis using the miRNet tool showed that the differential expression profiles of HS and SCOS patients were associated with arsenic trioxide, bisphenol-A, calcium sulphate, lithium, and cadmium. These compounds are reproductive toxins and might be responsible for miRNA-mediated epigenetic deregulation leading to NOA. The association between occupational risk factor exposure and the non-exposure group of NOA patients was not statistically significant, with ꭓ2 (3, N= 178) = 6.70, p= 0.082. The association between individual exposure groups (radiation, thermal, and chemical) and various sub-types of NOA is also not significant, with ꭓ2 (9, N= 178) = 15.06, p= 0.089. Functional analysis of HS and SCOS patients' miRNA profiles revealed some important miR-family members in terms of male fertility. The miR-181 family plays a role in the differentiation of spermatogonia and spermatocytes, as well as the transcriptional regulation of haploid germ cells. The miR-34 family is expressed in spermatocytes and round spermatids and is involved in the regulation of SSCs differentiation. Conclusion: The reproductive toxins might adopt the miRNA-mediated mechanism of disease development in idiopathic cases of NOA. Chemical compound induced; miRNA-mediated epigenetic deregulation can give a future perspective on the etiopathogenesis of the disease.

Keywords: microRNA, non-obstructive azoospermia (NOA), occupational exposure, hypospermatogenesis (HS), Sertoli cell only syndrome (SCOS)

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11402 Factors of Successful Transition of Individuals with Intellectual Disabilities from School to Employment

Authors: Mubarak S. Aldosari

Abstract:

Transition of adolescents with mild intellectual disabilities (ID) from secondary level to post-school employment level is a critical step for them and their families. Transition of adolescents with mild ID to post secondary levels faces serious difficulties and challenges. The current research highlighted the important factors related to the success of transition of students with mild ID to post-school employment such as vocational training, Self-determination skills, Social skills, and family involvement.

Keywords: adolescents with mild intellectual disabilities, post-school employment, vocational training, self-determination skills, social skills, family involvement

Procedia PDF Downloads 294
11401 Evaluating and Reducing Aircraft Technical Delays and Cancellations Impact on Reliability Operational: Case Study of Airline Operator

Authors: Adel A. Ghobbar, Ahmad Bakkar

Abstract:

Although special care is given to maintenance, aircraft systems fail, and these failures cause delays and cancellations. The occurrence of Delays and Cancellations affects operators and manufacturers negatively. To reduce technical delays and cancellations, one should be able to determine the important systems causing them. The goal of this research is to find a method to define the most expensive delays and cancellations systems for Airline operators. A predictive model was introduced to forecast the failure and their impact after carrying out research that identifies relevant information to tackle the problems faced while answering the questions of this paper. Data were obtained from the manufacturers’ services reliability team database. Subsequently, delays and cancellations evaluation methods were identified. No cost estimation methods were used due to their complexity. The model was developed, and it takes into account the frequency of delays and cancellations and uses weighting factors to give an indication of the severity of their duration. The weighting factors are based on customer experience. The data Analysis approach has shown that delays and cancellations events are not seasonal and do not follow any specific trends. The use of weighting factor does have an influence on the shortlist over short periods (Monthly) but not the analyzed period of three years. Landing gear and the navigation system are among the top 3 factors causing delays and cancellations for all three aircraft types. The results did confirm that the cooperation between certain operators and manufacture reduce the impact of delays and cancellations.

Keywords: reliability, availability, delays & cancellations, aircraft maintenance

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11400 Microalgae Hydrothermal Liquefaction Process Optimization and Comprehension to Produce High Quality Biofuel

Authors: Lucie Matricon, Anne Roubaud, Geert Haarlemmer, Christophe Geantet

Abstract:

Introduction: This case discusses the management of two floor of mouth (FOM) Squamous Cell Carcinomas (SCC) not identified upon initial biopsy. Case Report: A 51 year-old male presented with right FOM erythroleukoplakia. Relevant medical history included alcoholic dependence syndrome and alcoholic liver disease. Relevant drug therapy encompassed acamprosate, folic acid, hydroxocobalamin and thiamine. The patient had a 55.5 pack-year smoking history and alcohol dependence from age 14, drinking 16 units/day. FOM incisional biopsy and histopathological analysis diagnosed Carcinoma in situ. Treatment involved wide local excision. Specimen analysis revealed two separate foci of pT1 moderately differentiated SCCs. Carcinoma staging scans revealed no pathological lymphadenopathy, no local invasion or metastasis. SCCs had been excised in completion with narrow margins. MDT discussion concluded that in view of the field changes it would be difficult to identify specific areas needing further excision, although techniques such as Lugol’s Iodine were considered. Further surgical resection, surgical neck management and sentinel lymph node biopsy was offered. The patient declined intervention, primary management involved close monitoring alongside alcohol and smoking cessation referral. Discussion: Narrow excisional margins can increase carcinoma recurrence risk. Biopsy failed to identify SCCs, despite sampling an area of clinical concern. For gross field change multiple incisional biopsies should be considered to increase chance of accurate diagnosis and appropriate treatment. Coupling of tobacco and alcohol has a synergistic effect, exponentially increasing the relative risk of oral carcinoma development. Tobacco and alcoholic control is fundamental in reducing treatment‑related side effects, recurrence risk, and second primary cancer development.

Keywords: microalgae, biofuels, hydrothermal liquefaction, biomass

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11399 Factors Affecting Employee Decision Making in an AI Environment

Authors: Yogesh C. Sharma, A. Seetharaman

Abstract:

The decision-making process in humans is a complicated system influenced by a variety of intrinsic and extrinsic factors. Human decisions have a ripple effect on subsequent decisions. In this study, the scope of human decision making is limited to employees. In an organisation, a person makes a variety of decisions from the time they are hired to the time they retire. The goal of this research is to identify various elements that influence decision-making. In addition, the environment in which a decision is made is a significant aspect of the decision-making process. Employees in today's workplace use artificial intelligence (AI) systems for automation and decision augmentation. The impact of AI systems on the decision-making process is examined in this study. This research is designed based on a systematic literature review. Based on gaps in the literature, limitations and the scope of future research have been identified. Based on these findings, a research framework has been designed to identify various factors affecting employee decision making. Employee decision making is influenced by technological advancement, data-driven culture, human trust, decision automation-augmentation, and workplace motivation. Hybrid human-AI systems require the development of new skill sets and organisational design. Employee psychological safety and supportive leadership influences overall job satisfaction.

Keywords: employee decision making, artificial intelligence (AI) environment, human trust, technology innovation, psychological safety

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11398 Laboratory Diagnostic Testing of Peste des Petits Ruminants in Georgia

Authors: Nino G. Vepkhvadze, Tea Enukidze

Abstract:

Every year the number of countries around the world face the risk of the spread of infectious diseases that bring significant ecological and social-economic damage. Hence, the importance of food product safety is emphasized that is the issue of interest for many countries. To solve them, it’s necessary to conduct preventive measures against the diseases, have accurate diagnostic results, leadership, and management. The Peste des petits ruminants (PPR) disease is caused by a morbillivirus closely related to the rinderpest virus. PPR is a transboundary disease as it emerges and evolves, considered as one of the top most damaging animal diseases. The disease imposed a serious threat to sheep-breeding when the farms of sheep, goats are significantly growing within the country. In January 2016, PPR was detected in Georgia. Up to present the origin of the virus, the age relationship of affected ruminants and the distribution of PPRV in Georgia remains unclear. Due to the nature of PPR, and breeding practices in the country, reemerging of the disease in Georgia is highly likely. The purpose of the studies is to provide laboratories with efficient tools allowing the early detection of PPR emergence and re-emergences. This study is being accomplished under the Biological Threat Reduction Program project with the support of the Defense Threat Reduction Agency (DTRA). The purpose of the studies is to investigate the samples and identify areas at high risk of the disease. Georgia has a high density of small ruminant herds bred as free-ranging, close to international borders. Kakheti region, Eastern Georgia, will be considered as area of high priority for PPR surveillance. For this reason, in 2019, in Kakheti region investigated n=484 sheep and goat serum and blood samples from the same animals, utilized serology and molecular biology methods. All samples were negative by RT-PCR, and n=6 sheep samples were seropositive by ELISA-Ab. Future efforts will be concentrated in areas where the risk of PPR might be high such as international bordering regions of Georgia. For diagnostics, it is important to integrate the PPRV knowledge with epidemiological data. Based on these diagnostics, the relevant agencies will be able to control the disease surveillance.

Keywords: animal disease, especially dangerous pathogen, laboratory diagnostics, virus

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11397 Enhanced Production of Endo-β-1,4-Xylanase from a Newly Isolated Thermophile Geobacillus stearothermophilus KIBGE-IB29 for Prospective Industrial Applications

Authors: Zainab Bibi, Afsheen Aman, Shah Ali Ul Qader

Abstract:

Endo-β-1,4-xylanases [EC 3.2.1.8] are one of the major groups of enzymes that are involved in degradation process of xylan and have several applications in food, textile and paper processing industries. Due to broad utility of endo-β-1,4-xylanase, researchers are focusing to increase the productivity of this hydrolase from various microbial species. Harsh industrial condition, faster reaction rate and efficient hydrolysis of xylan with low risk of contamination are critical requirements of industry that can be fulfilled by synthesizing the enzyme with efficient properties. In the current study, a newly isolated thermophile Geobacillus stearothermophilus KIBGE-IB29 was used in order to attain the maximum production of endo-1,4-β-xylanase. Bacterial culture was isolated from soil, collected around the blast furnace site of a steel processing mill, Karachi. Optimization of various nutritional and physical factors resulted the maximum synthesis of endo-1,4-β-xylanase from a thermophile. High production yield was achieved at 60°C and pH-6.0 after 24 hours of incubation period. Various nitrogen sources viz. peptone, yeast extract and meat extract improved the enzyme synthesis with 0.5%, 0.2% and 0.1% optimum concentrations. Dipotassium hydrogen phosphate (0.25%), potassium dihydrogen phosphate (0.05%), ammonium sulfate (0.05%) and calcium chloride (0.01%) were noticed as valuable salts to improve the production of enzyme. The thermophilic nature of isolate, with its broad pH stability profile and reduced fermentation time indicates its importance for effective xylan saccharification and for large scale production of endo-1,4-β-xylanase.

Keywords: geobacillus, optimization, production, xylanase

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11396 A CFD Analysis of Hydraulic Characteristics of the Rod Bundles in the BREST-OD-300 Wire-Spaced Fuel Assemblies

Authors: Dmitry V. Fomichev, Vladimir V. Solonin

Abstract:

This paper presents the findings from a numerical simulation of the flow in 37-rod fuel assembly models spaced by a double-wire trapezoidal wrapping as applied to the BREST-OD-300 experimental nuclear reactor. Data on a high static pressure distribution within the models, and equations for determining the fuel bundle flow friction factors have been obtained. Recommendations are provided on using the closing turbulence models available in the ANSYS Fluent. A comparative analysis has been performed against the existing empirical equations for determining the flow friction factors. The calculated and experimental data fit has been shown. An analysis into the experimental data and results of the numerical simulation of the BREST-OD-300 fuel rod assembly hydrodynamic performance are presented.

Keywords: BREST-OD-300, ware-spaces, fuel assembly, computation fluid dynamics

Procedia PDF Downloads 386
11395 Development of Programmed Cell Death Protein 1 Pathway-Associated Prognostic Biomarkers for Bladder Cancer Using Transcriptomic Databases

Authors: Shu-Pin Huang, Pai-Chi Teng, Hao-Han Chang, Chia-Hsin Liu, Yung-Lun Lin, Shu-Chi Wang, Hsin-Chih Yeh, Chih-Pin Chuu, Jiun-Hung Geng, Li-Hsin Chang, Wei-Chung Cheng, Chia-Yang Li

Abstract:

The emergence of immune checkpoint inhibitors (ICIs) targeting proteins like PD-1 and PD-L1 has changed the treatment paradigm of bladder cancer. However, not all patients benefit from ICIs, with some experiencing early death. There's a significant need for biomarkers associated with the PD-1 pathway in bladder cancer. Current biomarkers focus on tumor PD-L1 expression, but a more comprehensive understanding of PD-1-related biology is needed. Our study has developed a seven-gene risk score panel, employing a comprehensive bioinformatics strategy, which could serve as a potential prognostic and predictive biomarker for bladder cancer. This panel incorporates the FYN, GRAP2, TRIB3, MAP3K8, AKT3, CD274, and CD80 genes. Additionally, we examined the relationship between this panel and immune cell function, utilizing validated tools such as ESTIMATE, TIDE, and CIBERSORT. Our seven-genes panel has been found to be significantly associated with bladder cancer survival in two independent cohorts. The panel was also significantly correlated with tumor infiltration lymphocytes, immune scores, and tumor purity. These factors have been previously reported to have clinical implications on ICIs. The findings suggest the potential of a PD-1 pathway-based transcriptomic panel as a prognostic and predictive biomarker in bladder cancer, which could help optimize treatment strategies and improve patient outcomes.

Keywords: bladder cancer, programmed cell death protein 1, prognostic biomarker, immune checkpoint inhibitors, predictive biomarker

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11394 Effectiveness of the Lacey Assessment of Preterm Infants to Predict Neuromotor Outcomes of Premature Babies at 12 Months Corrected Age

Authors: Thanooja Naushad, Meena Natarajan, Tushar Vasant Kulkarni

Abstract:

Background: The Lacey Assessment of Preterm Infants (LAPI) is used in clinical practice to identify premature babies at risk of neuromotor impairments, especially cerebral palsy. This study attempted to find the validity of the Lacey assessment of preterm infants to predict neuromotor outcomes of premature babies at 12 months corrected age and to compare its predictive ability with the brain ultrasound. Methods: This prospective cohort study included 89 preterm infants (45 females and 44 males) born below 35 weeks gestation who were admitted to the neonatal intensive care unit of a government hospital in Dubai. Initial assessment was done using the Lacey assessment after the babies reached 33 weeks postmenstrual age. Follow up assessment on neuromotor outcomes was done at 12 months (± 1 week) corrected age using two standardized outcome measures, i.e., infant neurological international battery and Alberta infant motor scale. Brain ultrasound data were collected retrospectively. Data were statistically analyzed, and the diagnostic accuracy of the Lacey assessment of preterm infants (LAPI) was calculated -when used alone and in combination with the brain ultrasound. Results: On comparison with brain ultrasound, the Lacey assessment showed superior specificity (96% vs. 77%), higher positive predictive value (57% vs. 22%), and higher positive likelihood ratio (18 vs. 3) to predict neuromotor outcomes at one year of age. The sensitivity of Lacey assessment was lower than brain ultrasound (66% vs. 83%), whereas specificity was similar (97% vs. 98%). A combination of Lacey assessment and brain ultrasound results showed higher sensitivity (80%), positive (66%), and negative (98%) predictive values, positive likelihood ratio (24), and test accuracy (95%) than Lacey assessment alone in predicting neurological outcomes. The negative predictive value of the Lacey assessment was similar to that of its combination with brain ultrasound (96%). Conclusion: Results of this study suggest that the Lacey assessment of preterm infants can be used as a supplementary assessment tool for premature babies in the neonatal intensive care unit. Due to its high specificity, Lacey assessment can be used to identify those babies at low risk of abnormal neuromotor outcomes at a later age. When used along with the findings of the brain ultrasound, Lacey assessment has better sensitivity to identify preterm babies at particular risk. These findings have applications in identifying premature babies who may benefit from early intervention services.

Keywords: brain ultrasound, lacey assessment of preterm infants, neuromotor outcomes, preterm

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11393 Oncological and Antiresorptive Treatment of Breast Cancer: Dental Assessment and Risk of MRONJ Development

Authors: Magdalena Korytowska, Gunnar Lengstrand, Cecilia Larsson Wexell

Abstract:

Background: Breast cancer (BC) is the most common cancer among women worldwide, and cases are continuing to increase in Sweden. Bone is the most common metastatic site in breast cancer patients, where > 65-75% of women with advanced breast cancer develop bone metastases during their disease. To prevent the skeletal-related events of metastases (e.g., pathological fractures, bone loss, cancer-induced bone pain, and hypercalcemia bone), two different classes of antiresorptive medications (AR), bisphosphonate and denosumab are typically administered every 3 to 4 weeks. Since 2015, adjuvant bisphosphonate treatment has been used every six months for three to five years in postmenopausal women for the prevention of skeletal metastases and improved survival. Methods: A case-control study was conducted to test the hypotheses that patients treated with high-dose AR are at higher risk of developing MRONJ than breast cancer patients with adjuvant bisphosphonate treatment at a lower dose. Medical and odontological data was collected between 2015-2020. Assessment of oral health and dental care before and during oncological treatment took place at the specialist clinic for Orofacial medicine linked to the specific hospital. Results: In total, 220 patients were included, 101 patients in the high-dose group and 119 patients in the adjuvant BP-treatment group. MRONJ was diagnosed in 13 patients (14%) in the high-dose group. The mandible was affected in most of the cases (84.6%), with a mean duration of high-dose treatment of 19.7 months. In 46.2% of cases, no dental cause of MRONJ could be identified. Overall, estrogen receptor-positive (ER+) BC was the most representative type in 172 patients (78.2%). However, this was 83.9% in the high-dose cases group. The most used drug was denosumab. Twenty-five patients (26.9%) switched their medication from ZOL to denosumab during their oncological treatment. Patients with ER+ breast cancer were reported in 88 patients (87.8%) in the adjuvant group that was treated with ZOL. Conclusions: MRONJ was diagnosed only in the high-dose AR group. Dental assessment and care of patients in the adjuvant group should be considered, with a recommendation to potentially prolong ZOL treatment from 3 to 5 years, with concomitant use of hormonal therapy in patients diagnosed with ER+ breast cancer to prevent bone loss induced by oncological treatment. A new referral for dental assessment is very important in the case of bone metastases when treatment with high dose AR will be required since it is associated with a higher risk of MRONJ.

Keywords: antiresorptive therapy, breast cancer, dental care, MRONJ

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11392 Influence of Genetic Counseling in Family Dynamics in Patients with Deafness in Merida, Yucatán, Mexico

Authors: Damaris Estrella Castillo, Zacil ha Vilchis Zapata, Leydi Peraza Gómez

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Hearing loss is an etiologically heterogeneous condition, where almost 60% is genetic in origin, 20% is due to environmental factors, and 20% have unknown causes. However, it is now known that the gene, GJB2, which encodes the connexin 26 protein, accounts for a large percentage of non-syndromic genetic hearing loss, and variants in this gene have been identified to be a common cause of hereditary hearing loss in many populations. The literature reports that the etiology in deafness helps improve family functioning but low-income countries this is difficult. Therefore, it is difficult to contribute the right of families to know about the genetic risk in future pregnancies as well as determining the certainty of being a carrier or affected. In order to assess the impact of genetic counseling and the functionality, 100 families with at least one child with profound hearing loss, were evaluated by specialists in audiology, clinical genetics and psychology. Targeted mutation analysis for one of the two known large deletions of upstream of GJB2/GJB6 gene (35delG; and including GJB2 regulatory sequences and GJB6) were performed in patients with diagnosis of non-syndromic hearing loss. Genetic counseling was given to all parents and primary caregivers, and APGAR family test was applied before and after the counseling. We analyzed a total of 300 members (children, parents) to determine the presence of the GJB2 gene mutation. Twelve patients (carriers and affected) were positive for the mutation, from 5 different families. The subsequent family APGAR testing and genetic counseling, showed that 14% perceived their families as functional, 62 % and 24 % moderately functional dysfunctional. This shows the importance of genetic counseling in the perception of family function that can directly impact the quality of life of these families.

Keywords: family dynamics, deafness, APGAR, counseling

Procedia PDF Downloads 647