Search results for: underserved populations
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 1167

Search results for: underserved populations

897 Association of Copy Number Variation of the CHKB, KLF6, GPC1, and CHRM3 Genes with Growth Traits of Datong Yak (Bos grunniens)

Authors: Habtamu Abera Goshu, Ping Yan

Abstract:

Copy number variation (CNV) is a significant marker of the genetic and phenotypic diversity among individuals that accounts for complex quantitative traits of phenotype and diseases via modulating gene dosage, position effects, alteration of downstream pathways, modification of chromosome structure, and position within the nucleus and disrupting coding regions in the genome. Associating copy number variations (CNVs) with growth and gene expression are a powerful approach for identifying genomic characteristics that contribute to phenotypic and genotypic variation. A previous study using next-generation sequencing illustrated that the choline kinase beta (CHKB), Krüpple-like factor 6 (KLF6), glypican 1(GPC1), and cholinergic receptor muscarinic 3 (CHRM3) genes reside within copy number variable regions (CNVRs) of yak populations that overlap with quantitative trait loci (QTLs) of meat quality and growth. As a result, this research aimed to determine the association of CNVs of the KLF6, CHKB, GPC1, and CHRM3 genes with growth traits in the Datong yak breed. The association between the CNV types of the KLF6, CHKB, GPC1, and CHRM3 genes and the growth traits in the Datong yak breed was determined by one-way analysis of variance (ANOVA) using SPSS software. The CNV types were classified as a loss (a copy number of 0 or 1), gain (a copy number >2), and normal (a copy number of 2) relative to the reference gene, BTF3 in the 387 individuals of Datong yak. These results indicated that the normal CNV types of the CHKB and GPC1 genes were significantly (P<0.05) associated with high body length, height and weight, and chest girth in six-month-old and five-year-old Datong yaks. On the other hand, the loss CNV types of the KLF6 gene is significantly (P<0.05) associated with body weight and length and chest girth at six-month-old and five-year-old Datong yaks. In the contrary, the gain CNV type of the CHRM3 gene is highly (P<0.05) associated with body weight, length, height, and chest girth in six-month-old and five-year-old. This work provides the first observation of the biological role of CNVs of the CHKB, KLF6, GPC1, and CHRM3 genes in the Datong yak breed and might, therefore, provide a novel opportunity to utilize data on CNVs in designing molecular markers for the selection of animal breeding programs for larger populations of various yak breeds. Therefore, we hypothesized that this study provided inclusive information on the application of CNVs of the CHKB, KLF6, GPC1, and CHRM3 genes in growth traits in Datong yaks and its possible function in bovine species.

Keywords: Copy number variation, growth traits, yak, genes

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896 Need for a Tailor Made HIV Prevention Services to the Migrants Community: Evidence from Implementing Migrant Service Delivery System (MSDS) among Migrant Workers, National AIDS Control Program, and India

Authors: Debasish Chowdhury, Sunil Mekale, Sarvanamurthy Sakthivel, Sukhvinder Kaur, Rambabu Khambampati, Ashok Agarwal

Abstract:

Introduction: The migrant intervention in India was initiated during the National AIDS Control Program (NACP) Phase-2 (2002-2007). HIV Sentinel surveillance Studies (HSS) conducted in 2012-13 indicated higher HIV prevalence among migrants (0.99%) compared to general populations (0.35%). Migrants continue to bear a heightened risk of HIV infection which results from the condition and structure of the migration process. USAID PHFI-PIPPSE project in collaboration with the National AIDS Control Organization (NACO) developed a unique system called Migrant Service Delivery System (MSDS) to capture migrants profile with respect to their risk profile and to provide tailor made services to them. Description: MSDS is a web-based system, designed and implemented to increase service uptake among migrants through evidence based planning. 110 destination migrants Targeted Intervention (TI) from 11 states were selected for study with varied target populations in terms of occupations; to understand occupation related risk behaviors among the migrants. Occupation wise registration data of high risk vulnerable migrants were analyzed through MSDS for the period April 2014–June 2016. Analysis was made on specific indicators among these occupational groups to understand the risk behavior and their vulnerability to HIV and STIs. Findings: Out of total HIV positive migrant’s workers (N= 847) enrolled in MSDS HIV rate is found to be highest among Auto-Rickshaw (18.66%) followed by Daily wage laborers (14.46%), Loom workers (10.73%), Industrial workers (10.04%) and Construction worker 7.93%. With 45.14% positivity, industrial workers are found to be most vulnerable to Sexually Transmitted Infections (STIs) (N=10057) among all occupational categories followed by loom workers (16.28%), Skilled worker (Furniture, Jeweler)-7.14%, daily wage laborers (5.45%). Conclusion: MSDS is an effective tool to assess migrants’ risk and their vulnerability to HIV for designing evidence informed program. This system calls for a replication across all destination TIs by NACO for differential strategies for different occupation groups to ensure better yield through scientific planning of intervention among high risk and high vulnerable migrants.

Keywords: migrants, migrant service delivery system, risk, vulnerability

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895 Vulnerability of the Rural Self-Constructed Housing with Social Programs and His Economic Impact in the South-East of Mexico

Authors: Castillo-Acevedo J, Mena-Rivero R, Silva-Poot H

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In Mexico, as largely of the developing countries, the rural housing is a study object, since the diversity of constructive idiosyncrasies for locality, involves various factors that make it vulnerable; an important aspect of study is the progressive deterioration that is seen in the rural housing. Various social programs, contribute financial resources in the field of housing to provide support for families living in rural areas, however, they do not provide a coordination with the self-construction that is usually the way in which is built in these areas. The present study, exposes the physical situation and an economic assessment that presents the rural self-constructed housing in three rural communities in the south of the state of Quintana Roo, Mexico, which were built with funding from federal social programs. The information compilation was carried out in a period of seven months in which there was used the intentional sampling of typical cases, where the object study was the housing constructed with supports of the program “Rural Housing” between the year 2009 and 2014. Instruments were used as the interview, ballot papers of observation, ballot papers of technical verification and various measuring equipment laboratory for the classification of pathologies; for the determination of some pathologies constructive Mexican standards were applied how NMX-C-192-ONNCCE, NMX-C-111-ONNCCE, NMX-C-404-ONNCCE and finally used the software of Opus CMS ® with the help of tables of the National Consumer Price Index (CPI) for update of costs and wages according to the line of being applied in Mexico, were used for an economic valuation. The results show 11 different constructive pathologies and exposes greater presence with the 22.50% to the segregation of the concrete; the economic assessment shows that 80% of self-constructed housing, exceed the cost of construction it would have compared to a similar dwelling built by a construction company; It is also exposed to the 46.10% of the universe of study represent economic losses in materials to the social activities by houses not built. The system of self-construction used by the social programs, affect to some extent the program objectives applied in underserved areas, as implicit and additional costs affect the economic capacity of beneficiaries who invest time and effort in an activity that are not specialists, which this research provides foundations for sustainable alternatives or possibly eliminate the practice of self-construction of implemented social programs in marginalized rural communities in the south of state of Quintana Roo, Mexico.

Keywords: economic valuation, pathologies constructive, rural housing, social programs

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894 Floating Populations, Rooted Networks Tracing the Evolution of Russeifa City in Relation to Marka Refugee Camp

Authors: Dina Dahood Dabash

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Refugee camps are habitually defined as receptive sites, transient spaces of exile and nondescript depoliticized places of exception. However, such arguments form partial sides of reality, especially in countries that are geopolitically challenged and rely immensely on international aid. In Jordan, the dynamics brought with the floating population of refugees (Palestinian amongst others) have resulted in spatial after-effects that cannot be easily overlooked. For instance, Palestine refugee camps have turned by time into socioeconomic centers of gravity and cores of spatial evolution. Yet, such a position is not instantaneous. Amongst various reasons, it can be related, according to this paper, to a distinctive institutional climate that has been co-produced by the refugees, host community and the state. This paper aims to investigate the evolution of urban and spatial regulations in Jordan between 1948 and 1995, more specifically, state regulations, community regulations and refugee-self-regulation that all dynamically interacted that period. The paper aims to unpack the relations between refugee camps and their environs to further explore the agency of such floating populations in establishing rooted networks that extended the time and place boundaries. The paper’s argument stems from the fact that the spatial configuration of urban systems is not only an outcome of a historical evolutionary process but is also a result of interactions between the actors. The research operationalizes Marka camp in Jordan as a case study. Marka Camp is one of the six "emergency" camps erected in 1968 to shelter 15,000 Palestine refugees and displaced persons who left the West Bank and Gaza Strip. Nowadays, camp shelters more than 50,000 refugees in the same area of land. The camp is located in Russeifa, a city in Zarqa Governorate in Jordan. Together with Amman and Zarqa, Russeifa is part of a larger metropolitan area that acts as a home to more than half of Jordan’s businesses. The paper aspires to further understand the post-conflict strategies which were historically applied in Jordan and can be employed to handle more recent geopolitical challenges such as the Syrian refugee crisis. Methodological framework: The paper traces the evolution of the refugee-camp regulating norms in Jordan, parallel with the horizontal and vertical evolution of the Marka camp and its surroundings. Consequently, the main methods employed are historical and mental tracing, Interviews, in addition to using available Aerial and archival photos of the Marka camp and its surrounding.

Keywords: forced migration, Palestine refugee camps, spatial agency, urban regulations

Procedia PDF Downloads 158
893 Impacts and Implications: Exploring the Long-Term Health Benefits of Regular Physical Activity

Authors: Muhammad Wahb

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Physical activity is increasingly recognized as a significant factor in maintaining optimal health and preventing chronic diseases. This research scrutinizes the long-term health benefits of sustained physical activity, employing a systematic review of epidemiological studies and randomized control trials conducted over the past decade. The study illuminates the protective effects of regular physical activity against cardiovascular disease, obesity, diabetes, and mental health disorders, with a special focus on the mechanisms involved. Furthermore, the paper provides insights into how public health initiatives can effectively promote physical activity among diverse populations, contributing to improved community health outcomes.

Keywords: physical activity, long-term health benefits, chronic disease prevention, public health

Procedia PDF Downloads 61
892 Information Literacy: Concept and Importance

Authors: Gaurav Kumar

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An information literate person is one who uses information effectively in all its forms. When presented with questions or problems, an information literate person would know what information to look for, how to search efficiently and be able to access relevant sources. In addition, an information literate person would have the ability to evaluate and select appropriate information sources and to use the information effectively and ethically to answer questions or solve problems. Information literacy has become an important element in higher education. The information literacy movement has internationally recognized standards and learning outcomes. The step-by-step process of achieving information literacy is particularly crucial in an era where knowledge could be disseminated through a variety of media. What is the relationship between information literacy as we define it in higher education and information literacy among non-academic populations? What forces will change how we think about the definition of information literacy in the future and how we will apply the definition in all environments?

Keywords: information literacy, human beings, visual media and computer network etc, information literacy

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891 Evaluation of the Nutritional Potential of a Developed Spice Formulation for nah poh (An Emulsion-Based Gravy): Physicochemical and Techno-Functional Characterisations

Authors: Djiazet Stève, Mezajoug Kenfack Laurette Blandine, Ravi Pullakhandam, Bethala L. A. Prabhavathi Devi, Tchiegang Clergé, Prathapkumar Halady Shetty

Abstract:

The nutritional potential of a developed spice formulation for nah poh was evaluated. It was found that when spices were used for the formulation for nah poh, the concentration of some nutrients is diluted while that of some of them increases. The proportion of unsaturated fats was estimated to be 76.2% of the total fat content while the chemical score varied between 31 to 39%. The contents of some essential minerals of nutritional interest in mg are as follows for 100g of spice: 2372.474 ± 0.007 for potassium, 16.447 ± 0.010 for iron, 4.772 ± 0.005 for zinc, 0.537 ± 0.001 for cupper, 0.138 ± 0.005 for selenium, and 112.954 ± 0.003 for manganese. This study shows that the consumption of these spices in the form of formulation significantly contributes to meet the mineral requirements of the populations whose food habits regularly require these spices.

Keywords: spice formulation, characterisation, nutritional potential, nah poh, techno functional properties

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890 On-Ice Force-Velocity Modeling Technical Considerations

Authors: Dan Geneau, Mary Claire Geneau, Seth Lenetsky, Ming -Chang Tsai, Marc Klimstra

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Introduction— Horizontal force-velocity profiling (HFVP) involves modeling an athletes linear sprint kinematics to estimate valuable maximum force and velocity metrics. This approach to performance modeling has been used in field-based team sports and has recently been introduced to ice-hockey as a forward skating performance assessment. While preliminary data has been collected on ice, distance constraints of the on-ice test restrict the ability of the athletes to reach their maximal velocity which result in limits of the model to effectively estimate athlete performance. This is especially true of more elite athletes. This report explores whether athletes on-ice are able to reach a velocity plateau similar to what has been seen in overground trials. Fourteen male Major Junior ice-hockey players (BW= 83.87 +/- 7.30 kg, height = 188 ± 3.4cm cm, age = 18 ± 1.2 years n = 14) were recruited. For on-ice sprints, participants completed a standardized warm-up consisting of skating and dynamic stretching and a progression of three skating efforts from 50% to 95%. Following the warm-up, participants completed three on ice 45m sprints, with three minutes of rest in between each trial. For overground sprints, participants completed a similar dynamic warm-up to that of on-ice trials. Following the warm-up participants completed three 40m overground sprint trials. For each trial (on-ice and overground), radar was used to collect instantaneous velocity (Stalker ATS II, Texas, USA) aimed at the participant’s waist. Sprint velocities were modelled using custom Python (version 3.2) script using a mono-exponential function, similar to previous work. To determine if on-ice tirals were achieving a maximum velocity (plateau), minimum acceleration values of the modeled data at the end of the sprint were compared (using paired t-test) between on-ice and overground trials. Significant differences (P<0.001) between overground and on-ice minimum accelerations were observed. It was found that on-ice trials consistently reported higher final acceleration values, indicating a maximum maintained velocity (plateau) had not been reached. Based on these preliminary findings, it is suggested that reliable HFVP metrics cannot yet be collected from all ice-hockey populations using current methods. Elite male populations were not able to achieve a velocity plateau similar to what has been seen in overground trials, indicating the absence of a maximum velocity measure. With current velocity and acceleration modeling techniques, including a dependency of a velocity plateau, these results indicate the potential for error in on-ice HFVP measures. Therefore, these findings suggest that a greater on-ice sprint distance may be required or the need for other velocity modeling techniques, where maximal velocity is not required for a complete profile.   

Keywords: ice-hockey, sprint, skating, power

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889 Trabecular Texture Analysis Using Fractal Metrics for Bone Fragility Assessment

Authors: Khaled Harrar, Rachid Jennane

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The purpose of this study is the discrimination of 28 postmenopausal with osteoporotic femoral fractures from an age-matched control group of 28 women using texture analysis based on fractals. Two pre-processing approaches are applied on radiographic images; these techniques are compared to highlight the choice of the pre-processing method. Furthermore, the values of the fractal dimension are compared to those of the fractal signature in terms of the classification of the two populations. In a second analysis, the BMD measure at proximal femur was compared to the fractal analysis, the latter, which is a non-invasive technique, allowed a better discrimination; the results confirm that the fractal analysis of texture on calcaneus radiographs is able to discriminate osteoporotic patients with femoral fracture from controls. This discrimination was efficient compared to that obtained by BMD alone. It was also present in comparing subgroups with overlapping values of BMD.

Keywords: osteoporosis, fractal dimension, fractal signature, bone mineral density

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888 The Maldistribution of Doctors and the Responsibility of Medical Education: A Literature Review

Authors: Catherine Bernard

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The maldistribution of clinicians within countries is well documented. It is a common theme throughout the world that rural areas often struggle to recruit and retain health workers resulting in inadequate healthcare for many. This paper will concentrate on the responsibilities that medical schools may have in addressing this shortage of rural health workers. Recommendations are made with regards to targeted rural student admissions, rurally-based medical schools, rural clinical rotations and a curriculum orientated towards rural health issues. The evidence gathered suggests that individual factors are positive in encouraging health workers to practice in rural locations. However, there is strength in numbers, and combining all the recommendations will likely result in a synergistic effect, thereby increasing numbers of rural health workers and achieving accessible healthcare for those living in rural populations.

Keywords: medical education, medical education design, public health, rural health

Procedia PDF Downloads 237
887 Translation and Validation of the Pain Resilience Scale in a French Population Suffering from Chronic Pain

Authors: Angeliki Gkiouzeli, Christine Rotonda, Elise Eby, Claire Touchet, Marie-Jo Brennstuhl, Cyril Tarquinio

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Resilience is a psychological concept of possible relevance to the development and maintenance of chronic pain (CP). It refers to the ability of individuals to maintain reasonably healthy levels of physical and psychological functioning when exposed to an isolated and potentially highly disruptive event. Extensive research in recent years has supported the importance of this concept in the CP literature. Increased levels of resilience were associated with lower levels of perceived pain intensity and better mental health outcomes in adults with persistent pain. The ongoing project seeks to include the concept of pain-specific resilience in the French literature in order to provide more appropriate measures for assessing and understanding the complexities of CP in the near future. To the best of our knowledge, there is currently no validated version of the pain-specific resilience measure, the Pain Resilience scale (PRS), for French-speaking populations. Therefore, the present work aims to address this gap, firstly by performing a linguistic and cultural translation of the scale into French and secondly by studying the internal validity and reliability of the PRS for French CP populations. The forward-translation-back translation methodology was used to achieve as perfect a cultural and linguistic translation as possible according to the recommendations of the COSMIN (Consensus-based Standards for the selection of health Measurement Instruments) group, and an online survey is currently conducted among a representative sample of the French population suffering from CP. To date, the survey has involved one hundred respondents, with a total target of around three hundred participants at its completion. We further seek to study the metric properties of the French version of the PRS, ''L’Echelle de Résilience à la Douleur spécifique pour les Douleurs Chroniques'' (ERD-DC), in French patients suffering from CP, assessing the level of pain resilience in the context of CP. Finally, we will explore the relationship between the level of pain resilience in the context of CP and other variables of interest commonly assessed in pain research and treatment (i.e., general resilience, self-efficacy, pain catastrophising, and quality of life). This study will provide an overview of the methodology used to address our research objectives. We will also present for the first time the main findings and further discuss the validity of the scale in the field of CP research and pain management. We hope that this tool will provide a better understanding of how CP-specific resilience processes can influence the development and maintenance of this disease. This could ultimately result in better treatment strategies specifically tailored to individual needs, thus leading to reduced healthcare costs and improved patient well-being.

Keywords: chronic pain, pain measure, pain resilience, questionnaire adaptation

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886 The Impact of Housing Design on the Health and Well-Being of Populations: A Case-Study of Middle-Class Families in the Metropolitan Region of Port-Au-Prince, Haiti

Authors: A. L. Verret, N. Prince, Y. Jerome, A. Bras

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The effects of housing design on the health and well-being of populations are quite intangible. In fact, healthy housing parameters are generally difficult to establish scientifically. It is often unclear the direction of a cause-and-effect relationship between health variables and housing. However, the lack of clear and definite measurements does not entail the absence of relationship between housing, health, and well-being. Research has thus been conducted. It has mostly aimed the physical rather than the psychological or social well-being of a population, given the difficulties to establish cause-effect relationships because of the subjectivity of the psychological symptoms and of the challenge in determining the influence of other factors. That said, a strong relationship has been exposed between light and physiology. Both the nervous and endocrine systems, amongst others, are affected by different wavelengths of natural light within a building. Daylight in the workplace is indeed associated to decreased absenteeism, errors and product defects, fatigue, eyestrain, increased productivity and positive attitude. Similar associations can also be made to residential housing. Lower levels of sunlight within the home have been proven to result in impaired cognition in depressed participants of a cross-sectional case study. Moreover, minimum space (area and volume) has been linked to healthy housing and quality of life, resulting in norms and regulations for such parameters for home constructions. As a matter of fact, it is estimated that people spend the two-thirds of their lives within the home and its immediate environment. Therefore, it is possible to deduct that the health and well-being of the occupants are potentially at risk in an unhealthy housing situation. While the impact of architecture on health and well-being is acknowledged and considered somewhat crucial in various countries of the north and the south, this issue is barely raised in Haiti. In fact, little importance is given to architecture for many reasons (lack of information, lack of means, societal reflex, poverty…). However, the middle-class is known for its residential strategies and trajectories in search of better-quality homes and environments. For this reason, it would be pertinent to use this group and its strategies and trajectories to isolate the impact of housing design on the overall health and well-being. This research aims to analyze the impact of housing architecture on the health and well-being of middle-class families in the metropolitan region of Port-au-Prince. It is a case study which uses semi-structured interviews and observations as research methods. Although at an early stage, this research anticipates that homes affect their occupants both psychologically and physiologically, and consequently, public policies and the population should take into account the architectural design in the planning and construction of housing and, furthermore, cities.

Keywords: architectural design, health and well-being, middle-class housing, Port-au-Prince, Haiti

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885 New Media Impact on Newspaper Readership

Authors: Umar Lawal Maradun

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Newspapers are very important sources of information and are trusted by majority of populations in America, Latin America, Europe and many parts of the world. In the mid-1950s newspapers were at the forefront of providing people with information. However, in the 1970s television took over, while in the 1980s cable satellites became popular and in the 1990s the Internet and World Wide Web became major sources of media content and also major threats to the print media form. This paper looks at how newspaper readership has been affected by new media technology, especially the Internet. It uses empirical data by reviewing available literature within the context of change that is likely to threaten conventional media. It discovers that there is a growing decline in newspaper readership as a result of widespread use of the Internet. The decline in readership has been discovered to be a global phenomenon. The paper suggests strategies for the survival and revenue generation for print-based newspapers.

Keywords: Internet, media, newspaper, press

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884 The Role of Genetic Markers in Prostate Cancer Diagnosis and Treatment

Authors: Farman Ali, Asif Mahmood

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The utilization of genetic markers in prostate cancer management represents a significant advance in personalized medicine, offering the potential for more precise diagnosis and tailored treatment strategies. This paper explores the pivotal role of genetic markers in the diagnosis and treatment of prostate cancer, emphasizing their contribution to the identification of individual risk profiles, tumor aggressiveness, and response to therapy. By integrating current research findings, we discuss the application of genetic markers in developing targeted therapies and the implications for patient outcomes. Despite the promising advancements, challenges such as accessibility, cost, and the need for further validation in diverse populations remain. The paper concludes with an outlook on future directions, underscoring the importance of genetic markers in revolutionizing prostate cancer care.

Keywords: prostate cancer, genetic markers, personalized medicine, BRCA1 and BRCA2

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883 Inheritance of Protein Content and Grain Yield in Half Diallel Maize (Zea mays L.) Populations

Authors: Gül Ebru Orhun

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A half diallel crossing design was carried out during 2011 and 2012 growing seasons under Çanakkale-Turkey ecological conditions. In this research, 20 F1 maize hybrids obtained by 6x6 half diallel crossing were used. Gene action for protein content and grain yield traits were explored in half set involving six elite inbred lines. According to the results diallel analysis dominance and additive gene variances were determined for protein content. Variance/Co-variance graphs revealed for grain yield and protein content traits. In this study, inheritance of grain yield and protein content demonstrated over-dominance type of gene action.

Keywords: protein, maize, inheritance, gene action

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882 Effect of Chemical Fertilizer on Plant Growth-Promoting Rhizobacteria in Wheat

Authors: Tessa E. Reid, Vanessa N. Kavamura, Maider Abadie, Adriana Torres-Ballesteros, Mark Pawlett, Ian M. Clark, Jim Harris, Tim Mauchline

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The deleterious effect of chemical fertilizer on rhizobacterial diversity has been well documented using 16S rRNA gene amplicon sequencing and predictive metagenomics. Biofertilization is a cost-effective and sustainable alternative; improving strategies depends on isolating beneficial soil microorganisms. Although culturing is widespread in biofertilization, it is unknown whether the composition of cultured isolates closely mirrors native beneficial rhizobacterial populations. This study aimed to determine the relative abundance of culturable plant growth-promoting rhizobacteria (PGPR) isolates within total soil DNA and how potential PGPR populations respond to chemical fertilization in a commercial wheat variety. It was hypothesized that PGPR will be reduced in fertilized relative to unfertilized wheat. Triticum aestivum cv. Cadenza seeds were sown in a nutrient depleted agricultural soil in pots treated with and without nitrogen-phosphorous-potassium (NPK) fertilizer. Rhizosphere and rhizoplane samples were collected at flowering stage (10 weeks) and analyzed by culture-independent (amplicon sequence variance (ASV) analysis of total rhizobacterial DNA) and -dependent (isolation using growth media) techniques. Rhizosphere- and rhizoplane-derived microbiota culture collections were tested for plant growth-promoting traits using functional bioassays. In general, fertilizer addition decreased the proportion of nutrient-solubilizing bacteria (nitrate, phosphate, potassium, iron and, zinc) isolated from rhizocompartments in wheat, whereas salt tolerant bacteria were not affected. A PGPR database was created from isolate 16S rRNA gene sequences and searched against total soil DNA, revealing that 1.52% of total community ASVs were identified as culturable PGPR isolates. Bioassays identified a higher proportion of PGPR in non-fertilized samples (rhizosphere (49%) and rhizoplane (91%)) compared to fertilized samples (rhizosphere (21%) and rhizoplane (19%)) which constituted approximately 1.95% and 1.25% in non-fertilized and fertilized total community DNA, respectively. The analyses of 16S rRNA genes and deduced functional profiles provide an in-depth understanding of the responses of bacterial communities to fertilizer; this study suggests that rhizobacteria, which potentially benefit plants by mobilizing insoluble nutrients in soil, are reduced by chemical fertilizer addition. This knowledge will benefit the development of more targeted biofertilization strategies.

Keywords: bacteria, fertilizer, microbiome, rhizoplane, rhizosphere

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881 The Role of Islamic Finance and Socioeconomic Factors in Financial Inclusion: A Cross Country Comparison

Authors: Allya Koesoema, Arni Ariani

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While religion is only a very minor factor contributing to financial exclusion in most countries, the World Bank 2014 Global Financial Development Report highlighted it as a significant barrier for having a financial account in some Muslim majority countries. This is in part due to the perceived incompatibility between traditional financial institutions practices and Islamic finance principles. In these cases, the development of financial institutions and products that are compatible with the principles of Islamic finance may act as an important lever to increasing formal account ownership. However, there is significant diversity in the relationship between a country’s proportion of Muslim population and its level of financial inclusion. This paper combines data taken from the Global Findex Database, World Development Indicators, and the Pew Research Center to quantitatively explore the relationship between individual and country level religious and socioeconomic factor to financial inclusion. Results from regression analyses show a complex relationship between financial inclusion and religion-related factors in the population both on the individual and country level. Consistent with prior literature, on average the percentage of Islamic population positively correlates with the proportion of unbanked populations who cites religious reasons as a barrier to getting an account. However, its impact varies across several variables. First, a deeper look into countries’ religious composition reveals that the average negative impact of a large Muslim population is not as strong in more religiously diverse countries and less religious countries. Second, on the individual level, among the unbanked, the poorest quintile, least educated, older and the female populations are comparatively more likely to not have an account because of religious reason. Results also show indications that in this case, informal mechanisms partially substitute formal financial inclusion, as indicated by the propensity to borrow from family and friends. The individual level findings are important because the demographic groups that are more likely to cite religious reasons as barriers to formal financial inclusion are also generally perceived to be more vulnerable socially and economically and may need targeted attention. Finally, the number of Islamic financial institutions in a particular country is negatively correlated to the propensity of religious reasons as a barrier to financial inclusion. Importantly, the number of financial institutions in a country also mitigates the negative impact of the proportion of Muslim population, low education and individual age to formal financial inclusion. These results point to the potential importance of Islamic Finance Institutions in increasing global financial inclusion, and highlight the potential importance of looking beyond the proportion of Muslim population to other underlying institutional and socioeconomic factor in maximizing its impact.

Keywords: cross country comparison, financial inclusion, Islamic banking and finance, quantitative methods, socioeconomic factors

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880 Genetic Diversity of Cord Blood of the National Center of Blood Transfusion, Mexico (NCBT)

Authors: J. Manuel Bello-López, Julieta Rojo-Medina

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Introduction: The transplant of Umbilical Cord Blood Units (UCBU) are a therapeutic possibility for patients with oncohaematological disorders, especially in children. In Mexico, 48.5% of oncological diseases in children 1-4 years old are leukemias; whereas in patients 5-14 and 15-24 years old, lymphomas and leukemias represent the second and third cause of death in these groups respectively. Therefore it is necessary to have more registries of UCBU in order to ensure genetic diversity in the country; the above because the search for appropriate a UCBU is increasingly difficult for patients of mixed ethnicity. Objective: To estimate the genetic diversity (polymorphisms) of Human Leucocyte Antigen (HLA) Class I (A, B) and Class II (DRB1) in UCBU cryopreserved for transplant at Cord Blood Bank of the NCBT. Material and Methods: HLA typing of 533 UCBU for transplant was performed from 2003-2012 at the Histocompatibility Laboratory from the Research Department (evaluated by Los Angeles Ca. Immunogenetics Center) of the NCBT. Class I HLA-A, HLA-B and Class II HLA-DRB1 typing was performed using medium resolution Sequence-Specific Primer (SSP). In cases of an ambiguity detected by SSP; Sequence-Specific Oligonucleotide (SSO) method was carried out. A strict analysis of populations genetic parameters were done in 5 representative UCBU populations. Results: 46.5% of UCBU were collected from Mexico City, State of Mexico (30.95%), Puebla (8.06%), Morelos (6.37%) and Veracruz (3.37%). The remaining UCBU (4.75%) are represented by other states. The identified genotypes correspond to Amerindian origins (HLA-A*02, 31; HLA-B*39, 15, 48), Caucasian (HLA-A*02, 68, 01, 30, 31; HLA-B*35, 15, 40, 44, 07 y HLA-DRB1*04, 08, 07, 15, 03, 14), Oriental (HLA-A*02, 30, 01, 31; HLA-B* 35, 39, 15, 40, 44, 07,48 y HLA-DRB1*04, 07,15, 03) and African (HLA-A*30 y HLA-DRB1*03). The genetic distances obtained by Cavalli-Sforza analysis of the five states showed significant genetic differences by comparing genetic frequencies. The shortest genetic distance exists between Mexico City and the state of Puebla (0.0039) and the largest between Veracruz and Morelos (0.0084). In order to identify significant differences between this states, the ANOVA test was performed. This demonstrates that UCBU is significantly different according to their origin (P <0.05). This is shown by the divergence between arms at the Dendogram of Neighbor-Joining. Conclusions: The NCBT provides UCBU in patients with oncohaematological disorders in all the country. There is a group of patients for which not compatible UCBU can be find due to the mixed ethnic origin. For example, the population of northern Mexico is mostly Caucasian. Most of the NCBT donors are of various ethnic origins, predominantly Amerindians and Caucasians; although some ethnic minorities like Oriental, African and pure Indian ethnics are not represented. The NCBT is, therefore, establishing agreements with different states of Mexico to promote the altruistic donation of Umbilical Cord Blood in order to enrich the genetic diversity in its files.

Keywords: cord blood, genetic diversity, human leucocyte antigen, transplant

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879 Prevalence of the Musculoskeletal Disorder amongst School Teachers

Authors: Nirav Vaghela, Sanket Parekh

Abstract:

Objective: Musculoskeletal disorders (MSD) represent one of the most common and important occupational health problems in working populations, being responsible for a substantial impact on quality of life and incurring a major economic burden in compensation cost and lost wages. School teachers represent an occupational group among which there appears to be a high prevalence of MSD. Design: Three hundred and fourteen teachers were enrolled in this study. Teachers were interview with the Modified Nordic Questionnaire. Result: In current study total 314 participants have been recruited in that minimum age of participants is 22 and maximum age is 59 with mean 40.5± 9.88. Total prevalence of the MSD is 71.95% among the teachers. In that Female were more affected with 72% than the males with 28%. Conclusion: The teachers here in reported a high prevalence of musculoskeletal pain in the shoulder, knee and back.

Keywords: repetitive stress injury, pain, occupational hazards, disability, abneetism, physical health, quality of life

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878 RV Car Clinic as Cost-Effective Health Care

Authors: Dessy Arumsari, Ais Assana Athqiya, Mulyaminingrum

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Healthcare in remote areas is one of the major concerns in Indonesia. Building hospitals in a nation of 18.000 islands with a larger-than-life bureaucracy and problems with corruption, a critical shortage of qualified medical professionals and well-heeled patients resigned to traveling abroad for health care is a hard feat to accomplish. To assuring that all populations have access to appropriate and cost-effective care, a new solution to tackle this problem is with the presence of RV Car Clinic. This car has a concept such as a walking hospital that provides health facilities inside it. All of the health professionals who work in RV Car Clinic will do the rotation for a year in order to the equitable distribution of health workers. We need to advocate the policy makers to help realize RV Car Clinic in remote areas. Health services can be disseminated by the present of RV Car Clinic. Summarily, the local communities can get cost effectively because RV Car Clinic will come to their place and serve the health services.

Keywords: health policy, health professional, remote areas, RV Car Clinic

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877 Sukh Initiative: A Family Planning Reproductive Health Project for Squatter Settlement of Karachi, Pakistan

Authors: Arshad Hussain

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Background: Sukh Initiative is a multi-donor funded, family planning and reproductive health project, primed by Aman Healthcare Services; implemented through a consortium of local and international organizations, in a selected one million underserved peri-urban population of Karachi, Sindh; which aims at increasing modern contraceptive prevalence rate by 15 percentage point. Objective: To empower women to access contraception by increasing knowledge, improving quality of services and expanding the basket of choices; contributing to the goals of FP2020. Methods: A five years project has a multi-pronged approach with door to door services by LHWs and CHWs in an LHWs covered population and provision of quality FP/RH services both at public and private health care facilities. The project engages youth (12-16 years) both with community and at secondary schools to mentor them for responsible adulthood with life skilled base initiative. A 24/7 availability of youth and FP helpline service provides counselling, referrals in addition with a follow-up mechanism. Results: 131,810 MWRAs were reached by 191 community health workers through 29,693 of community support group meetings and 166,775 house hold visits. These MWRAs were counselled on FP related myths and misconception and referred to 216 providers trained for quality family planning services and maintaining average 64% quality scores in 43 public health and 35 private facilities in the project area. Of those referred 26% MWRAs opted modern contraception with 17.56% in LARCs and 41% PPFP as compared to baseline. Aman TeleHealth is linked with 24/7 counselling, referrals and post services follow-ups to clients, showing 14% proportion of FP call volume. Sukh has a unique role in engaging all partners on youth SRHR issues through family life education sessions, 30 higher sec. schools in Sukh area have been provided LSBE to 16,000 students (aged 15-17), and in community approximately 10, 496 girls and boys have received SRHR information. Conclusion: Through individual counselling, access to quality family planning services and involvement of stakeholders, Suk created an enabling environment to rapid increase in family planning in the project intervention area.

Keywords: family planning and reproductive health, married women with reproductive age, urban squatter, Pakistan

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876 French Managers and Their Subordinates’ Well-Being

Authors: B. Gangloff, N. Malleh

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Well-being at work has many positive aspects. Our general hypothesis is that employees who feel well-being at work will be positively valued by their superiors, and that this positive value, which evokes the concept of social norms, allows us to assign to well-being at work a normative status. Three populations (line managers, students destined to become human resource managers, and employees) responded to a well-being questionnaire. Managers had to indicate, for each item, if they appreciated (or not) an employee feeling the well-being presented in the item; students had to indicate which items an employee should check if s/he wants to be positively (versus negatively) appreciated by his/her superior; and employees had to indicate to what degree each item corresponded to the well-being they used to feel. Three hypotheses are developed and confirmed: Managers positively value employees feeling some sense of well-being; students are aware of this positivity; spontaneously employees show a state of well-being, which means, knowing that spontaneous self-presentation is often produced by social desirability, that employees are aware of the well-being positivity. These data are discussed under a conceptual and applied angle.

Keywords: normativity, well-being at work, organization, evaluation

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875 The Molecular Characteristic of Heliotropium digynum in Saudi Arabia by Inter-Simple Sequence Repeat (ISSR) Analysis

Authors: Mona Alwhibi, Najat Bukhary

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Heliotropium digynum, a member of Boraginaceae family, the growth of the plant, as well as its size, length of inflorescence, and speed of development depends on the amount of rain in its habitat. In this study, we studied the applicability of inter-simple sequence repeat (ISSR) polymorphism in Heliotropium digynum in a different region of Saudi Arabia. We found that. ISSR analysis using 15 primers were used for ISSR-PCR optimization trials, five primers (UBC810, UBC811, UBC818, UBC834, and UBC849) which gave the best amplification results produced a total of 43 polymorphic bands. The number of polymorphic loci was 20 and the percentage of polymorphism was 90.47%. The similarity result indicates the presence of a high-level genetic diversity between populations and a dendrogram constructed by UPGMA method.

Keywords: genetic differentiation, genetic diversity, Heliotropium digynum, ISSR

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874 Development of a Culturally Safe Wellbeing Intervention Tool for and with the Inuit in Quebec

Authors: Liliana Gomez Cardona, Echo Parent-Racine, Joy Outerbridge, Arlene Laliberté, Outi Linnaranta

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Suicide rates among Inuit in Nunavik are six to eleven times larger than the Canadian average. The colonization, religious missions, residential schools as well as economic and political marginalization are factors that have challenged the well-being and mental health of these populations. In psychiatry, screening for mental illness is often done using questionnaires with which the patient is expected to respond how often he/she has certain symptoms. However, the Indigenous view of mental wellbeing may not fit well with this approach. Moreover, biomedical treatments do not always meet the needs of Indigenous peoples because they do not understand the culture and traditional healing methods that persist in many communities. Assess whether the questionnaires used to measure symptoms, commonly used in psychiatry are appropriate and culturally safe for the Inuit in Quebec. Identify the most appropriate tool to assess and promote wellbeing and follow the process necessary to improve its cultural sensitivity and safety for the Inuit population. Qualitative, collaborative, and participatory action research project which respects First Nations and Inuit protocols and the principles of ownership, control, access, and possession (OCAP). Data collection based on five focus groups with stakeholders working with these populations and members of Indigenous communities. Thematic analysis of the data collected and emerging through an advisory group that led a revision of the content, use, and cultural and conceptual relevance of the instruments. The questionnaires measuring psychiatric symptoms face significant limitations in the local indigenous context. We present the factors that make these tools not relevant among Inuit. Although the scale called Growth and Empowerment Measure (GEM) was originally developed among Indigenous in Australia, the Inuit in Quebec found that this tool comprehends critical aspects of their mental health and wellbeing more respectfully and accurately than questionnaires focused on measuring symptoms. We document the process of cultural adaptation of this tool which was supported by community members to create a culturally safe tool that helps in resilience and empowerment. The cultural adaptation of the GEM provides valuable information about the factors affecting wellbeing and contributes to mental health promotion. This process improves mental health services by giving health care providers useful information about the Inuit population and their clients. We believe that integrating this tool in interventions can help create a bridge to improve communication between the Indigenous cultural perspective of the patient and the biomedical view of health care providers. Further work is needed to confirm the clinical utility of this tool in psychological and psychiatric intervention along with social and community services.

Keywords: cultural adaptation, cultural safety, empowerment, Inuit, mental health, Nunavik, resiliency

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873 Single-Cell Visualization with Minimum Volume Embedding

Authors: Zhenqiu Liu

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Visualizing the heterogeneity within cell-populations for single-cell RNA-seq data is crucial for studying the functional diversity of a cell. However, because of the high level of noises, outlier, and dropouts, it is very challenging to measure the cell-to-cell similarity (distance), visualize and cluster the data in a low-dimension. Minimum volume embedding (MVE) projects the data into a lower-dimensional space and is a promising tool for data visualization. However, it is computationally inefficient to solve a semi-definite programming (SDP) when the sample size is large. Therefore, it is not applicable to single-cell RNA-seq data with thousands of samples. In this paper, we develop an efficient algorithm with an accelerated proximal gradient method and visualize the single-cell RNA-seq data efficiently. We demonstrate that the proposed approach separates known subpopulations more accurately in single-cell data sets than other existing dimension reduction methods.

Keywords: single-cell RNA-seq, minimum volume embedding, visualization, accelerated proximal gradient method

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872 Ad Hocism Aiding Sufferings of Urban Refugees in Nepal: A Case Study of Pakistani Ahmadi Refugees

Authors: Shishir Lamichhane

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Nepal neither is a party to any international refugee instruments nor does it have a national legislation to govern the refugee concerns legislated in the international legal instruments. In the absence of both of these, Nepal has adopted a rather ad hoc approach to dealing with refugees. Whereas Nepali state’s ad hocism seems to be paying off well with prominent (and mainstream) refugee populations of Bhutanese and Tibetans, urban refugees like Pakistani Ahmadiyya refugees have been left mostly at the odds. This paper is an attempt to reflect how the ad hoc approach taken by the host country (Nepal) is resulting in the further persecution of the Pakistani Ahmadiyya refugees and is lined up with arguments about how the basic rights of these refugees are being violated in the absence of a proper law. Relevant information regarding urban refugees residing in Kathmandu has been gathered by applying Empirical Research Methodology, while the paper also reviews pertinent literature already available on the case of Ahmadiya community.

Keywords: Pakistan, Ahmadiya community, Nepal, urban refugees

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871 The Social Ecology of Serratia entomophila: Pathogen of Costelytra giveni

Authors: C. Watson, T. Glare, M. O'Callaghan, M. Hurst

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The endemic New Zealand grass grub (Costelytra giveni, Coleoptera: Scarabaeidae) is an economically significant grassland pest in New Zealand. Due to their impacts on production within the agricultural sector, one of New Zealand's primary industries, several methods are being used to either control or prevent the establishment of new grass grub populations in the pasture. One such method involves the use of a biopesticide based on the bacterium Serratia entomophila. This species is one of the causative agents of amber disease, a chronic disease of the larvae which results in death via septicaemia after approximately 2 to 3 months. The ability of S. entomophila to cause amber disease is dependant upon the presence of the amber disease associated plasmid (pADAP), which encodes for the key virulence determinants required for the establishment and maintenance of the disease. Following the collapse of grass grub populations within the soil, resulting from either natural population build-up or application of the bacteria, non-pathogenic plasmid-free Serratia strains begin to predominate within the soil. Whilst the interactions between S. entomophila and grass grub larvae are well studied, less information is known on the interactions between plasmid-bearing and plasmid-free strains, particularly the potential impact of these interactions upon the efficacy of an applied biopesticide. Using a range of constructed strains with antibiotic tags, in vitro (broth culture) and in vivo (soil and larvae) experiments were conducted using inoculants comprised of differing ratios of isogenic pathogenic and non-pathogenic Serratia strains, enabling the relative growth of pADAP+ and pADAP- strains under competition conditions to be assessed. In nutrient-rich, the non-pathogenic pADAP- strain outgrew the pathogenic pADAP+ strain by day 3 when inoculated in equal quantities, and by day 5 when applied as the minority inoculant, however, there was an overall gradual decline in the number of viable bacteria for both strains over a 7-day period. Similar results were obtained in additional experiments using the same strains and continuous broth cultures re-inoculated at 24-hour intervals, although in these cultures, the viable cell count did not diminish over the 7-day period. When the same ratios were assessed in soil microcosms with limited available nutrients, the strains remained relatively stable over a 2-month period. Additionally, in vivo grass grub co-infections assays using the same ratios of tagged Serratia strains revealed similar results to those observed in the soil, but there was also evidence of horizontal transfer of pADAP from the pathogenic to the non-pathogenic strain within the larval gut after a period of 4 days. Whilst the influence of competition is more apparent in broth cultures than within the soil or larvae, further testing is required to determine whether this competition between pathogenic and non-pathogenic Serratia strains has any influence on efficacy and disease progression, and how this may impact on the ability of S. entomophila to cause amber disease within grass grub larvae when applied as a biopesticide.

Keywords: biological control, entomopathogen, microbial ecology, New Zealand

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870 Telepsychiatry for Asian Americans

Authors: Jami Wang, Brian Kao, Davin Agustines

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COVID-19 highlighted the active discrimination against the Asian American population easily seen through media, social tension, and increased crimes against the specific population. It is well known that long-term racism can also have a large impact on both emotional and psychological well-being. However, the healthcare disparity during this time also revealed how the Asian American community lacked the research data, political support, and medical infrastructure for this particular population. During a time when Asian American fear for safety with decreasing mental health, telepsychiatry is particularly promising. COVID-19 demonstrated how well psychiatry could integrate with telemedicine, with psychiatry being the second most utilized telemedicine visits. However, the Asian American community did not utilize the telepsychiatry resources as much as other groups. Because of this, we wanted to understand why the patient population who was affected the most by COVID-19 mentally did not seek out care. To do this, we decided to study the top top telepsychiatry platforms. The current top telepsychiatry companies in the United States include Teladoc and BetterHelp. In the Teladoc mental health sector, they only had 4 available languages (English, Spanish, French, and Danis,) with none of them being an Asian language. In a similar manner, Teladoc’s top competitor in the telepsychiatry space, BetterHelp, only listed a total of 3 Asian languages, including Mandarin, Japanese, and Malaysian. However, this is still a short list considering they have over 20 languages available. The shortage of available physicians that speak multiple languages is concerning, as it could be difficult for the Asian American community to relate with. There are limited mental health resources that cater to their likely cultural needs, further exacerbating the structural racism and institutional barriers to appropriate care. It is important to note that these companies do provide interpreters to comply with the nondiscrimination and language assistance federal law. However, interactions with an interpreter are not only more time-consuming but also less personal than talking directly with a physician. Psychiatry is the field that emphasizes interpersonal relationships. The trust between a physician and the patient is critical in developing patient rapport to guide in better understanding the clinical picture and treating the patient appropriately. The language barrier creates an additional barrier between the physician and patient. Because Asian Americans are one of the largest growing patient population bases, these telehealth companies have much to gain by catering to the Asian American market. Without providing adequate access to bilingual and bicultural physicians, the current system will only further exacerbate the growing disparity. The healthcare community and telehealth companies need to recognize that the Asian American population is a severely underserved population in mental health and has much to gain from telepsychiatry. The lack of language is one of many reasons why there is a disparity for Asian Americans in the mental health space.

Keywords: telemedicine, psychiatry, Asian American, disparity

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869 Screening of Osteoporosis in Aging Populations

Authors: Massimiliano Panella, Sara Bortoluzzi, Sophia Russotto, Daniele Nicolini, Carmela Rinaldi

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Osteoporosis affects more than 200 million people worldwide. About 75% of osteoporosis cases are undiagnosed or diagnosed only when a bone fracture occurs. Since osteoporosis related fractures are significant determinants of the burden of disease and health and social costs of aging populations, we believe that this is the early identification and treatment of high-risk patients should be a priority in actual healthcare systems. Screening for osteoporosis by dual energy x-ray absorptiometry (DEXA) is not cost-effective for general population. An alternative is pulse-echo ultrasound (PEUS) because of the minor costs. To this end, we developed an early detection program for osteoporosis with PEUS, and we evaluated is possible impact and sustainability. We conducted a cross-sectional study including 1,050 people in Italy. Subjects with >1 major or >2 minor risk factors for osteoporosis were invited to PEUS bone mass density (BMD) measurement at the proximal tibia. Based on BMD values, subjects were classified as healthy subjects (BMD>0.783 g/cm²) and pathological including subjects with suspected osteopenia (0.783≤BMD>0.719 g/cm²) or osteoporosis (BMD ≤ 0.719 g/cm²). The responder rate was 60.4% (634/1050). According to the risk, PEUS scan was recommended to 436 people, of whom 300 (mean age 45.2, 81% women) accepted to participate. We identified 240 (80%) healthy and 60 (20%) pathological subjects (47 osteopenic and 13 osteoporotic). We observed a significant association between high risk people and reduced bone density (p=0.043) with increased risks for female gender, older ages, and menopause (p<0.01). The yearly cost of the screening program was 8,242 euros. With actual Italian fracture incidence rates in osteoporotic patients, we can reasonably expect in 20 years that at least 6 fractures will occur in our sample. If we consider that the mean costs per fracture in Italy is today 16,785 euros, we can estimate a theoretical cost of 100,710 euros. According to literature, we can assume that the early treatment of osteoporosis could avoid 24,170 euros of such costs. If we add the actual yearly cost of the treatments to the cost of our program and we compare this final amount of 11,682 euros to the avoidable costs of fractures (24,170 euros) we can measure a possible positive benefits/costs ratio of 2.07. As a major outcome, our study let us to early identify 60 people with a significant bone loss that were not aware of their condition. This diagnostic anticipation constitutes an important element of value for the project, both for the patients, for the preventable negative outcomes caused by the fractures, and for the society in general, because of the related avoidable costs. Therefore, based on our finding, we believe that the PEUS based screening performed could be a cost-effective approach to early identify osteoporosis. However, our study has some major limitations. In fact, in our study the economic analysis is based on theoretical scenarios, thus specific studies are needed for a better estimation of the possible benefits and costs of our program.

Keywords: osteoporosis, prevention, public health, screening

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868 Analysis of Mutation Associated with Male Infertility in Patients and Healthy Males in the Russian Population

Authors: Svetlana Zhikrivetskaya, Nataliya Shirokova, Roman Bikanov, Elizaveta Musatova, Yana Kovaleva, Nataliya Vetrova, Ekaterina Pomerantseva

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Nowadays there is a growing number of couples with conceiving problems due to male or female infertility. Genetic abnormalities are responsible for about 31% of all cases of male infertility. These abnormalities include both chromosomal aberrations or aneuploidies and mutations in certain genes. Chromosomal abnormalities can be easily identified, thus the development of screening panels able to reveal genetic reasons of male infertility on gene level is of current interest. There are approximately 2,000 genes involved in male fertility that is the reason why it is very important to determine the most clinically relevant in certain population and ethnic conditions. An infertility screening panel containing 48 mutations in genes AMHR2, CFTR, DNAI1, HFE, KAL1, TSSK2 and AZF locus which are the most clinically relevant for the European population according to databases NCBI and ClinVar was designed. The aim of this research was to confirm clinic relevance of these mutations in the Russian population. Genotyping was performed in 220 patients with different types of male infertility and in 57 healthy males with normozoospermia. Mutations were identified by end-point PCR with TaqMan probes in microfluidic plates. The frequency of 5 mutations in healthy males and 13 mutations in patients with infertility was revealed and estimated. The frequency of mutation c.187C>G in HFE gene was significantly lower for healthy males (8.8%) compared with patients (17.7%) and the values for the European population according to ExAc database (13.7%) and dbSNP (17.2%). Analysis of c.3454G>C, and c.1545_1546delTA mutations in the CFTR gene revealed increased frequency (0.9 and 0.2%, respectively) in patients with infertility compared with data for the European population (0.04%, respectively (ExAc, European (Non-Finnish) and for the Aggregated Populations (0.002% (ExAc), because there is no data for European population for c.1545_1546delTA mutation. The frequency of del508 mutation (CFTR) in patients (1.59%) were lower comparing with male infertility Europeans (3.34-6.25% depending on nationality) and at the same level with healthy Europeans (1.06%, ExAc, European (Non-Finnish). Analysis of c.845G>A (HFE) mutation resulted in decreased frequency in patients (1.8%) in contrast with the European population data (5.1%, respectively, ExAc, European (Non-Finnish). Moreover, obtained data revealed no statistically significant frequency difference for c.845G>A mutation (HFE) between healthy males in the Russian and the European populations. Allele frequencies of mutations c.350G>A (CFTR), c.193A>T (HFE), c.774C>T, and c.80A>G (gene TSSK2) showed no significantly difference among patients with infertility, healthy males and Europeans. Analysis of AZF locus revealed increased frequency for AZFc microdeletion in patients with male infertility. Thereby, the new data of the allele frequencies in infertility patients in the Russian population was obtained. As well as the frequency differences of mutations associated with male infertility among patients, healthy males in the Russian population and the European one were estimated. The revealed differences showed that for high effectiveness of screening panel detecting genetically caused male infertility it is very important to consider ethnic and population characteristics of patients which will be screened.

Keywords: allele frequency, azoospermia, male infertility, mutation, population

Procedia PDF Downloads 367