Search results for: association analysis

Authors: M. Reza Roshandel, Tannaz Aghaei Badr, Batoul Khoundabi, Sara C. Lewis, Soroush Rais-Bahrami, John Sfakianos, Reza Mehrazin, Ash K. Tewari

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Introduction: Prostate biopsy is the most reliable diagnostic method for choosing the appropriate management of prostate cancer. However, discrepancies between Gleason grade groups (GG) of different biopsies remain a significant concern. This study aims to assess the association of the radiological factors with GG discrepancies in patients with index Prostate Imaging Reporting and Data System (PI-RADS) 3 lesions, using radical prostatectomy (RP) specimens as the most accurate and informative pathology. Methods: This single-institutional retrospective study was performed on a total of 2289 consecutive prostate cancer patients with combined targeted and systematic prostate biopsy followed by radical prostatectomy (RP). The database was explored for patients with the index PI-RADS 3 lesions version 2 and 2.1. Cancers with PI-RADS 4 or 5 scoring were excluded from the study. Patient characteristics and radiologic features were analyzed by multivariable logistic regression. Number-density of lesions was defined as the number of lesions per prostatic volume. Results: Of the 151 prostate cancer cases with PI-RADS 3 index lesions, 27% and 17% had upgrades and downgrades at RP, respectively. Analysis of grade changes showed no significant associations between discrepancies and the number or the number density of PI-RADS 3 lesions. Moreover, the study showed no significant association of the GG changes with race, age, location of the lesions, or prostate volume. Conclusions: This study demonstrated that in PI-RADS 3 cancerous nodules, the chance of the pathology changes in the final pathology of RP specimens was low. Furthermore, having multiple PI-RADS 3 nodules did not change the conclusion, as the possibility of grade changes in patients with multiple nodules was similar to those with solitary lesions.

Keywords: prostate, adenocarcinoma, multiparametric MRI, Gleason score, robot-assisted surgery

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Authors: P. Priya Madhuri, J. Kamini, S. C. Jayanthi

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Assessment of land use and transportation networks is essential for sustainable urban growth, urban planning, efficient public transportation systems, and reducing traffic congestion. The study focuses on land use, population density, and their correlation with the road network for future development. The scope of the study covers inventory and assessment of the road network dataset (line) at the city, zonal, or ward level, which is extracted from very high-resolution satellite data (spatial resolution < 0.5 m) at 1:4000 map scale and ground truth verification. Road network assessment is carried out by computing various indices that measure road coverage and connectivity. In this study, an assessment of the road network is carried out for the study region at the municipal and ward levels. In order to identify gaps, road coverage and connectivity were associated with urban land use, built-up area, and population density in the study area. Ward-wise road connectivity and coverage maps have been prepared. To assess the relationship between road network metrics, correlation analysis is applied. The study's conclusions are extremely beneficial for effective road network planning and detecting gaps in the road network at the ward level in association with urban land use, existing built-up, and population.

Keywords: road connectivity, road coverage, road network, urban land use, transportation analysis

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Authors: Daniela V. Bavaresco, Tamy Colonetti, Antonio Jose Grande, Francesc Colom, Joao Quevedo, Samira S. Valvassori, Maria Ines da Rosa

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Objective: Performed a systematic review and meta-analysis to evaluated the potential effect of the cyclo-oxygenases (Cox)-2 inhibitor Celecoxib adjunct treatment in Bipolar Disorder (BD), through of randomized controlled trials. Method: A search of the electronic databases was proceeded, on MEDLINE, EMBASE, Scopus, Cochrane Central Register of Controlled Trials (CENTRAL), Biomed Central, Web of Science, IBECS, LILACS, PsycINFO (American Psychological Association), Congress Abstracts, and Grey literature (Google Scholar and the British Library) for studies published from January 1990 to February 2018. A search strategy was developed using the terms: 'Bipolar disorder' or 'Bipolar mania' or 'Bipolar depression' or 'Bipolar mixed' or 'Bipolar euthymic' and 'Celecoxib' or 'Cyclooxygenase-2 inhibitors' or 'Cox-2 inhibitors' as text words and Medical Subject Headings (i.e., MeSH and EMTREE) and searched. The therapeutic effects of adjunctive treatment with Celecoxib were analyzed, it was possible to carry out a meta-analysis of three studies included in the systematic review. The meta-analysis was performed including the final results of the Young Mania Rating Scale (YMRS) at the end of randomized controlled trials (RCT). Results: Three primary studies were included in the systematic review, with a total of 121 patients. The meta-analysis had significant effect in the YMRS scores from patients with BD who used Celecoxib adjuvant treatment in comparison to placebo. The weighted mean difference was 5.54 (95%CI=3.26-7.82); p < 0.001; I2 =0%). Conclusion: The systematic review suggests that adjuvant treatment with Celecoxib improves the response of major treatments in patients with BD when compared with adjuvant placebo treatment.

Keywords: bipolar disorder, Cox-2 inhibitors, Celecoxib, systematic review, meta-analysis

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Authors: Ubaid Ullah Kamgar, Ajaz Ahmed Suhaff, Mohammad Maqbool Dar

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Objective: The aim is to study the association of MRI findings of T₂/FLAIR white matter hyperintensities among patients with psychiatric disorders. Background and Rationale: MRI findings in psychiatric disorders can vary widely depending on specific disorders and individual differences. However, some general patterns have been observed, such as, in Depression - reduced volume in areas such as the prefrontal cortex and hippocampus; in Schizophrenia - enlarged ventricles, abnormalities in frontal and temporal lobes, as well as hippocampus and thalamus; in Bipolar Disorder – reduced volume in the prefrontal cortex and hippocampus and abnormalities in the amygdala; in OCD – abnormalities in the orbitofrontal cortex, anterior cingulate cortex and striatum. However, many patients show findings of white-matter hyper-intensities, which are usually considered non-specific in psychiatry. These hyperintensities are low attenuation in the deep and white matter. The pathogenic mechanisms of white matter hyperintensities are not well-understood and have been attributed to cerebral small vessel disease. The aim of the study is to study the association of the above MRI findings in patients with psychiatric disorders after ruling out neurological disorders (if any are found). Methodology: Patients admitted to psychiatric hospitals or presenting to OPDs with underlying psychiatric disorders, having undergone MRI Brain as part of investigations, and having T₂/FLAIR white-matter hyperintensities on MRI were taken to study the association of the above MRI findings with different psychiatric disorders. Results: Out of the 22 patients having MRI findings of T₂/FLAIR white-matter hyper-intensities, the underlying psychiatric comorbidities were: Major Depressive Disorder in 7 pts; Obsessive Compulsive Disorder in 5 pts; Bipolar Disorder in 5 pts; Dementia (vascular type) in 5pts. Discussion and conclusion: In our study, the white matter hyper-intensities were found mostly in MDD (32%), OCD (22.7%), Bipolar Disorder (22.7%) and Dementia in 22.7% of patients. In conclusion, the presence of white-matter hyperintensities in psychiatric disorders underscores the complex interplay between vascular, neurobiological and psychosocial factors. Further research with a large sample size is needed to fully elucidate their clinical significance.

Keywords: white-matter hyperintensities, OCD, MDD, dementia, bipolar disorder.

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Authors: Riffat Iqbal, Sidra Ihsan, Andleeb Batool, Maryam Mukhtar

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Glaucoma is a gathering of optic neuropathies described by dynamic degeneration of retinal ganglionic cells. It is clinically and innately heterogenous illness containing a couple of particular forms each with various causes and severities. Primary open-angle glaucoma (POAG) is the most generally perceived kind of glaucoma. This study investigated the genetic association of single nucleotide polymorphisms (SNPs; rs10483727 and rs33912345) at the SIX1/SIX6 locus with primary open-angle glaucoma (POAG) in the Pakistani population. The SIX6 gene plays an important role in ocular development and has been associated with morphology of the optic nerve. A total of 100 patients clinically diagnosed with glaucoma and 100 control individuals of age over 40 were enrolled in the study. Genomic DNA was extracted by organic extraction method. The SNP genotyping was done by (i) PCR based restriction fragment length polymorphism (RFLP) and sequencing method. Significant genetic associations were observed for rs10483727 (risk allele T) and rs33912345 (risk allele C) with POAG. Hence, it was concluded that Six6 gene is genetically associated with pathogenesis of Glaucoma in Pakistan.

Keywords: genotyping, Pakistani population, primary open-angle glaucoma, SIX6 gene

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Authors: Nur A. Azmi, Suseela D. Chandran, Fadilah Puteh, Azizan Zainuddin

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Medical tourism has been associated as a global phenomenon in developed and developing countries in the 21st century. Medical tourism is defined as an activity in which individuals who travel from one country to another country to seek or receive medical healthcare. Based on the global trend, the number of medical tourists is increasing annually, especially in the Southeast Asia (SEA) region. Since the establishment of Association of Southeast Asian Nations (ASEAN) in 1967, the SEA nations have worked towards regional integration in medical tourism. The medical tourism in the SEA has become the third-largest sector that contributes towards economic development. Previous research has demonstrated several factors that affect the development of medical tourism. However, despite the already published literature on SEA's medical tourism in the last ten years there continues to be a scarcity of research on niche areas each of the SEA countries. Hence, this paper is significant in enriching the literature in the field of medical tourism particularly in showcasing the niche market of medical tourism among the SEA best players namely Singapore, Thailand, Malaysia and Indonesia. This paper also contributes in offering a comparative analysis between the said nations whether they are complementing or competing with each other in the medical tourism sector. This then, will increase the availability of information in SEA region on medical tourism. The data was collected through an in-depth interview with various stakeholders and private hospitals. The data was then analyzed using two approaches namely thematic analysis (interview data) and document analysis (secondary data). The paper concludes by arguing that the ASEAN countries have specific niche market to promote their medical tourism industry. This paper also concludes that these key nations complement each other in the industry. In addition, the medical tourism sector in SEA region offers greater prospects for market development and expansion that witnessed the emerging of new key players from other nations.

Keywords: healthcare services, medical tourism, medical tourists, SEA region, comparative analysis

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Authors: Matthew Venunye Fianu, Jerry Fiave, Ebenezer Kye-Mensah, Dacosta Aboagye, Felix Osei-Sarpong

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Introduction: Road traffic accidents involving motorbikes are a priority public health concern in Ghana. While there are local initiatives to address this public health challenge, little is known about motor riders’ knowledge and compliance with road safety regulations (RSR) and their association with RTAs. The aim of this study was, therefore, to assess motorbike riders’ knowledge and compliance with RSRs. Methodology: Motorbike riders in Hohoe Municipality were randomly sampled in a cross-sectional study in June 2022. Data were collected from 237 riders using a questionnaire designed in Kobocollect and administered by ten research assistants. A score of 70% or less is considered low for knowledge and compliance. The data were exported into Excel and imported into STATA 17 for analysis. A chi-square test was performed to generate descriptive and inferential statistics to establish the association between independent and dependent variables. Results: All 237 respondents were male, and each of them completed the questionnaire representing a 100% response rate. Participants who had knowledge about speed limit at different segments of the road were 59(24.9%), the use of helmet were 124 (52.3%), and alcohol use were 152 (64.1%). Participants who complied with regulations on speed limits, helmet use, and alcohol use were 108 (45.6%), 179(75.5%), and 168(70.8%), respectively. Riders who had at least junior high school education were 2.43 times more likely to adhere to RSR [cOR =2.43(95%CI= 1.15-6.33) p= 0.023] than those who had less education. Similarly, riders who had high knowledge about RSR were 2.07 times more likely to comply with RSR than those who had less knowledge [AOR= -2.07 (95% CI= 0.34-0.97), p=0.038]. Conclusion: Motor riders in the Hohoe Municipality had low knowledge as well as low compliance with road safety regulations. This could be a contributor to road traffic accidents. It is therefore recommended that road safety regulatory authorities and relevant stakeholders enhance the enforcement of RSR. There should also be country-specific efforts to increase awareness among all motor riders, especially those with less than junior high school education.

Keywords: compliance, motor riders, road safety regulations, road traffic accident

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Authors: Barby Jennette A. Florano

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Dietary intake has been associated with the health and wellbeing of adults, and lifestyle related diseases. The aim of this study was to investigate whether nutrition knowledge, food label use, and food preference are associated with the dietary intake in a sample of San Jose Del Monte City, Bulacan (SJDM) adults. A sample of 148 adults, with a mean age of 20 years, completed a validated questionnaire related to their demographic, dietary intake, nutrition knowledge, food label use and food preference. Data were analyzed using Pearson correlation and there was no association between dietary intake and nutrition knowledge. However, there were positive relationships between dietary intake and food label use (r=0.1276, p<0.10), and dietary intake and food preference (r=0.1070, p<0.10). SJDM adults who use food label and have extensive food preference had better diet quality. This finding magnifies the role of nutrition education as a potential tool in health campaigns to promote healthy eating patterns and reading food labels among students and adults. Results of this study can give information for the design of future nutrition education intervention studies to assess the efficacy of nutrition knowledge and food label use among a similar sample population.

Keywords: dietary intake, nutrition knowledge, food preference, food label use

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Authors: Ritvik Chauhan, Vijay Kumar Baraik

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Women are most vulnerable to crime despite occupying central position in shaping a society as the first teacher of children. In India too, having equal rights and constitutional safeguards, the incidences of crime against them are large and grave. In this context of crime against women, especially rape has been increasing over time. This paper explores the spatial and temporal aspects of crime against women in India with special reference to rape. It also examines the crime against women with its spatial, socio-economic and demographic associates using related data obtained from the National Crime Records Bureau India, Indian Census and other government sources of the Government of India. The simple statistical, choropleth mapping and other cartographic representation methods have been used to see the crime rates, spatio-temporal patterns of crime, and association of crime with its correlates.  The major findings are visible spatial variations across the country and are also in the rising trends in terms of incidence and rates over the reference period. The study also indicates that the geographical associations are somewhat observed. However, selected indicators of socio-economic factors seem to have no significant bearing on crime against women at this level.

Keywords: crime against women, crime mapping, trend analysis, society

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Authors: M. Zeitoun, K. Abdallah, M. Rashwan

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Introduction: A growing body of evidence indicates that apelin, a relatively recent member of the adipokines family, has a potential anti-atherogenic effect. An association between low serum apelin state and coronary artery disease (CAD) was previously reported; however, the relationship between apelin and the atherosclerotic burden was unclear. Objectives: Our aim was to explore the correlation of serum apelin level with coronary calcium score (CCS) as a quantitative marker of coronary atherosclerosis. Methods: This observational cross-sectional study enrolled 100 consecutive subjects referred for cardiac multi-detector computed tomography (MDCT) for assessment of CAD (mean age 54 ± 9.7 years, 51 male and 49 females). Clinical parameters, glycemic and lipid profile, high sensitivity CRP (hsCRP), homeostasis model assessment of insulin resistance (HOMA-IR), serum creatinine and complete blood count were assessed. Serum apelin levels were determined using a commercially available Enzyme Immunoassay (EIA) Kit. High-resolution non-contrast CT images were acquired by a 64-raw MDCT and CCS was calculated using the Agatston scoring method. Results: Forty-three percent of the studied subjects had positive coronary artery calcification (CAC). The mean CCS was 79 ± 196.5 Agatston units. Subjects with detectable CAC had significantly higher fasting plasma glucose, HbA1c, and WBCs count than subjects without detectable CAC (p < 0.05). Most importantly, subjects with detectable CAC had significantly lower serum apelin level than subjects without CAC (1.3 ± 0.4 ng/ml vs. 2.8 ± 0.6 ng/ml, p < 0.001). In addition, there was a statistically significant inverse correlation between serum apelin levels and CCS (r = 0.591, p < 0.001); on multivariate analysis this correlation was found to be independent of traditional cardiovascular risk factors and hs-CRP. Conclusion:To the best of our knowledge, this is the first report of an independent association between apelin and CCS in patients with suspected CAD. Apelin emerges as a possible novel biomarker for CAD, but this result remains to be proved prospectively.

Keywords: HbA1c, apelin, adipokines, coronary calcium score (CCS), coronary artery disease (CAD)

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Authors: Lena Lapidot, Amir Amnon, Rita Nosenko, Veitsman Ella, Cohen-Ezra Oranit, Davidov Yana, Segev Shlomo, Koren Omry, Safran Michal, Ben-Ari Ziv

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Introduction: Hepatocellular carcinoma (HCC) is one of the leading causes of cancer related mortality worldwide. Liver Cirrhosis is the main predisposing risk factor for the development of HCC. The factor(s) influencing disease progression from Cirrhosis to HCC remain unknown. Gut microbiota has recently emerged as a major player in different liver diseases, however its association with HCC is still a mystery. Moreover, there might be an important association between the gut microbiota, nutrition, life style and the progression of Cirrhosis and HCC. The aim of our study was to characterize the gut microbial signature in association with life style and nutrition of patients with Cirrhosis, HCC-Cirrhosis and healthy controls. Design: Stool samples were collected from 95 individuals (30 patients with HCC, 38 patients with Cirrhosis and 27 age, gender and BMI-matched healthy volunteers). All participants answered lifestyle and Food Frequency Questionnaires. 16S rRNA sequencing of fecal DNA was performed (MiSeq Illumina). Results: There was a significant decrease in alpha diversity in patients with Cirrhosis (qvalue=0.033) and in patients with HCC-Cirrhosis (qvalue=0.032) compared to healthy controls. The microbiota of patients with HCC-cirrhosis compared to patients with Cirrhosis, was characterized by a significant overrepresentation of Clostridium (pvalue=0.024) and CF231 (pvalue=0.010) and lower expression of Alphaproteobacteria (pvalue=0.039) and Verrucomicrobia (pvalue=0.036) in several taxonomic levels: Verrucomicrobiae, Verrucomicrobiales, Verrucomicrobiaceae and the genus Akkermansia (pvalue=0.039). Furthermore, we performed an analysis of predicted metabolic pathways (Kegg level 2) that resulted in a significant decrease in the diversity of metabolic pathways in patients with HCC-Cirrhosis (qvalue=0.015) compared to controls, one of which was amino acid metabolism. Furthermore, investigating the life style and nutrition habits of patients with HCC-Cirrhosis, we found significant correlations between intake of artificial sweeteners and Verrucomicrobia (qvalue=0.12), High sugar intake and Synergistetes (qvalue=0.021) and High BMI and the pathogen Campylobacter (qvalue=0.066). Furthermore, overweight in patients with HCC-Cirrhosis modified bacterial diversity (qvalue=0.023) and composition (qvalue=0.033). Conclusions: To the best of the our knowledge, we present the first report of the gut microbial composition in patients with HCC-Cirrhosis, compared with Cirrhotic patients and healthy controls. We have demonstrated in our study that there are significant differences in the gut microbiome of patients with HCC-cirrhosis compared to Cirrhotic patients and healthy controls. Our findings are even more pronounced because the significantly increased bacteria Clostridium and CF231 in HCC-Cirrhosis weren't influenced by diet and lifestyle, implying this change is due to the development of HCC. Further studies are needed to confirm these findings and assess causality.

Keywords: Cirrhosis, Hepatocellular carcinoma, life style, liver disease, microbiome, nutrition

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Authors: Othman E. Othman, Hassan R. Darwish, Amira M. Nowier

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Lactoferrin (LF) is a multifunctional protein involved in economically production traits like milk protein composition and skeletal structure in small ruminants including sheep and goat. So, LF gene - with its genetic polymorphisms associated with production traits - is considered a candidate genetic marker used in marker-assisted selection in goats. This study aimed to identify the different alleles and genotypes of this gene in three Egyptian goat breeds using PCR-SSCP (polymerase chain reaction-single-strand conformation polymorphism) and DNA sequencing. Genomic DNA was extracted from 120 animals belonging to Barki, Zaraibi, and Damascus goat breeds. Using specific primers, PCR amplified 247-bp fragments from exon 2 of LF goat gene. The PCR products were subjected to Single-Strand Conformation Polymorphism (SSCP) technique. The results showed the presence of two genotypes GG and AG in the tested animals. The frequencies of both genotypes varied among the three tested breeds with the highest frequencies of GG genotype in all tested goat breeds. The sequence analysis of PCR products representing these two detected genotypes declared the presence of an SNP (single nucleotide polymorphisms) substitution (G/A) among G and A alleles of this gene. The association between different LF genotypes and milk composition as well as body measurement was estimated. The comparison showed that the animals possess AG genotypes are superior over those with GG genotypes for different parameters of milk protein compositions and skeletal structures. This finding declared that allele A of LF gene is considered the promising marker for the productive traits in goat. In conclusion, the Egyptian goat breeds will be needed to enhance their milk protein composition and growth trait parameters through the increasing of allele A frequency in their herds depending on the superior production traits of this allele in goats.

Keywords: lLactoferrin gene, PCR-SSCP, SNPs, Egyptian goat

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Authors: Cynthia Zgheib, Yonna Sacre

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Pregnancy, this particular moment in the life of a woman, requires monitoring of eating behavior changes. However, the food choices during pregnancy should be varied and healthy, including the consumption of different food groups. Nutritional status is the process of acquisition and consumption of food. Therefore, a varied diet is associated with good nutritional status. This is why the nutrition education is a strategy commonly applied to improve maternal nutrition during pregnancy. Thus, it is crucial to assess 'The eating behavior and nutritional status of pregnant women living in Keserwan Lebanon.' In order to evaluate the association of different persona, socioeconomic and sociodemographic factors with the eating behavior and nutrition in the concerned study category, a cross-sectional descriptive study was conducted on a sample of 150 pregnant women aging between 18 and 40 years randomly selected from the hospitals and clinics located in Keserwan area and equally distributed between different cities and villages of the area according to altitude. The purpose of this study was to evaluate the eating behavior of the concerned population and to compare it to the recommendation of the food guide pyramid, their level of food awareness and finally to analyze their blood tests in order to detect any nutrients deficiency that they may face during the course of their pregnancy. Sociodemographic, lifestyle, eating behaviour, health, eating patterns, awareness, and food frequency questionnaire (FFQ) were collected through a validated questionnaire specifically adapted for the purpose of the study. Statistical analysis was carried out, and multivariate models were used in order to evaluate the association between several independent variables and the eating behaviour and nutritional status of Lebanese pregnant women The final analysis has shown that 48.7% of pregnant women were aged between 30 and 40 years old, 56% had a normal BMI between 18.5 and 24.9, thus age affects the eating behavior, so the older are the pregnant women, and the healthier is their eating behavior. In fact, 80.7% had acceptable food behavior which is based on an equilibrium between both quantity and quality of food, although the recommended foods are foods found in the food pyramid and available in the Lebanese diet. In addition, 68% had an acceptable level of awareness concerning the health importance of good eating habits, therefore, it is positively affecting their food choices. Moreover, 50 % have an acceptable nutritional status which is confirmed by their biological tests. Future governmental or national studies and programs could be settled aiming to increase the awareness about the good eating behaviors and nutritional status of Lebanese pregnant women.

Keywords: eating behavior, nutritional status, level of awareness, pregnant woman

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Authors: Saad Mahmud Khan, Sarah El Hajj Chehadeh, Mehera Abdulrahman, Wael Osman, Habiba Al Safar

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Obesity is a non-communicable disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and the environment. Over the past few decades, obesity rates among the Emirati population have been increasing. The aim of this study was to investigate the association of candidate gene single nucleotide polymorphisms (SNPs), namely the fat mass and obesity associated (FTO) gene SNP rs9939609 and Vitamin D Receptor (VDR) gene SNP rs1544410, with obesity in the UAE population. Methods: This is a case-control study in which 414 individuals were enrolled during their routine visit to endocrinology clinics in Abu Dhabi, United Arab Emirates between the period of June 2012 and December 2013. Several biochemical tests and clinical assessments along with a lifestyle questionnaire for each participant were completed at the clinic. Genomic DNA was extracted from saliva samples of 201 obese, 114 overweight and 99 normal subjects. Genotyping for the variants was performed using TaqMan assay. Results: The mean Body Mass Index (BMI) ± SD for the obese, overweight, and normal subjects was 35.76 ± 4.54, 27.53 ± 1.45 and 22.69 ± 1.84 kg/m2, respectively. Increasing BMI values were associated with an increase in values for systolic blood pressure, diastolic blood pressure, HbA1c, and triglycerides. The SNP rs9939609 in the FTO gene was found to be significantly associated with the BMI (p=0.028), with the minor allele A having a clear additive effect on BMI values. No significant association was detected between BMI and rs1544410 of the VDR gene. Conclusions: Our study findings indicate that the minor allele A of the rs9939609 has a significant association with increasing BMI values. In addition, our findings support the fact that increasing BMI is associated with increasing risks of other comorbidities such as higher blood pressure, poorer glycemic control and higher triglycerides.

Keywords: body mass index, FTO gene, obesity, rs9939609, United Arab Emirates

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Authors: Azizah Nurdin, Trika Irianta, Mardiah Tahir, Maisuri T. Chalid

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Background: Studies of anal incontinence in the general population are rare however its financial healthcare cost is significant. Women attended Hasanuddin University Teaching Hospital and its networking in Makassar, Indonesia was surveyed between February to April 2015 about their obstetrical and gynecological history. Aims: To establish obstetrical risk factor of anal incontinence among women in Makassar. Methods: In a cross sectional face to face interview study, 135 women aged 30 years or more were selected randomly. Participants were asked to complete an anal incontinence questionnaire. Results: From a total sample of 135 respondents, 42,2 % reported has flatulence incontinence. Parity, history of anal sphincter laceration, history of having large baby, history of assisted vaginal delivery were shown have no significant association with anal incontinence, while history of episiotomy was shown have a significant association with anal incontinence (p value < 0.05). The risk of flatulence incontinence was higher among women with history of episiotomy (OR : 2,85, 95 % CI = 1,58- 5,13) Conclusions: This study has confirmed that fecal incontinence is a fairly common symptom. Flatulence incontinence is the most frequent even. An obstetrical factor like episiotomy is one of risk factor that could be avoided in order to prevent anal incontinence.

Keywords: anal incontinence, flatulence incontinence, obstetrical risk factor, women

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Authors: Neeti Sharma, Harshika Pareek, Prerna Puri, Manika Mohan

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The present study is aimed at studying the significant relationship between anxiety and depression in chronic headache patients. Chronic Headache patients coming to the Neurology Unit-1 Outpatient Department of the Sawai Mansingh Hospital (SMS) Jaipur, Rajasthan, were included in this study. The sample consisted of 100 patients (N=100). Initially patients were examined by a physician and then they were assessed for Anxiety and Depression using the Hamilton Anxiety Rating Scale (HAM-A) and the Hamilton Rating Scale for Depression. The relevant information was recorded on a Performa designed for this purpose comprising of socio-demographic variables like age, gender and triggering factors. The correlation-coefficient indicated a significant positive relationship between the anxiety and depression in chronic headache patients. These findings implicate high prevalence of anxiety and depression in the general population, and also indicate an association between headache and psychological disorders. Many evidences support the anxiety-headache-depression syndrome as a distinct disorder, and the association of co-morbid psychiatric illness with headache intractability. This study highlights the importance of prospective research for studying the developmental course and consequences of headache syndromes. Also, various psychotherapies should be applied to the headache patients so as to treat them, at the onset level of anxiety and depression, with the help of medication.

Keywords: anxiety, chronic headaches, depression, HAM-A, HAM

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Authors: S. da Costa, D. Páez, E. Martínez, A. Torres, M. Beramendi, D. Hermosilla, M. Muratori

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This study examined the association between creative performance, organizational climate and leadership, affectivity, shared flow, and group decision making. The sample consisted of 315 cadets of a military academic unit of South America. Satisfaction with the decision-making process during a creative task was associated with the usefulness and effectiveness of the ideas generated by the teams with a weighted average correlation of r = .18. Organizational emotional climate, positive and innovation leadership were associated with this group decision-making process r = .25, with shared flow, r = .29 and with positive affect felt during the performance of the creative task, r = .12. In a sequential mediational analysis positive organizational leadership styles were significantly associated with decision-making process and trough cohesion with utility and efficacy of the solution of a creative task. Satisfactory decision-making was related to shared flow during the creative task at collective or group level, and positive affect with flow at individual level.This study examined the association between creative performance, organizational climate and leadership, affectivity, shared flow, and group decision making. The sample consisted of 315 cadets of a military academic unit of South America. Satisfaction with the decision-making process during a creative task was associated with the usefulness and effectiveness of the ideas generated by the teams with a weighted average correlation of r = .18. Organizational emotional climate, positive and innovation leadership were associated with this group decision-making process r = .25, with shared flow, r = .29 and with positive affect felt during the performance of the creative task, r = .12. In a sequential mediational analysis positive organizational leadership styles were significantly associated with decision-making process and trough cohesion with utility and efficacy of the solution of a creative task. Satisfactory decision-making was related to shared flow during the creative task at collective or group level, and positive affect with flow at individual level.

Keywords: creativity, innovation, military, organization, teams

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Authors: Sepase K. Ivande

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Morality and frugality are two of the strongest motivations for pro-environmental behavior. However, formulating interventions based on these motivations requires knowledge of who is likely to be motivated by morality and who by frugality. This study investigated which personality traits make someone predisposed to morality motivation and which to frugality motivation for pro-environmental behavior. Results from a series of multiple regression analyses indicated that openness and agreeableness had a positive association with morality motivation, while conscientiousness had a positive association with frugality motivation. The link of agreeableness to morality motivation was stronger when the individuals were also higher on openness. Furthermore, a pair of Wilcoxon signed-rank tests revealed that individuals high on openness and agreeableness but low on conscientiousness scored higher on morality than frugality motivation. On the other hand, individuals low on openness and agreeableness but high on conscientiousness scored higher on frugality than morality motivation. The results of this study could inform the formulation of personalized interventions based on people’s personal predisposition to morality and frugality motivation for pro-environmental behavior, which could be more effective in getting them to be pro-environmental.

Keywords: agreeableness, conscientiousness, frugality, higher order motivations, morality, openness to experience, personality traits, pro-environmental behavior

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Authors: Samuel Quashie

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The importance of theory for PhD construction management research cannot be underestimated, as it requires a sound theoretical basis. Theory efficiency reduces errors in the research problem, solving it by building upon current theory. Provides a structure for examination, enables the efficient development of the construction management field and to it practical real world problems. The aim is to develop the theoretical framework for the application of descriptive theory within the PhD research design To apply the proposed theoretical framework using the case of the topic of ‘integrated management system,’ classifying the phenomena into categories, explore the association between the category–defining attributes and the outcome observed. Forming categorization based upon attributes of phenomena (framework and typologies), and statement of association (models). Predicting (deductive process) and confirming (inductive process). The descriptive theory is important and provides a structure for examination, enables the efficient development of construction management field and to it practical real world problems. In conclusion, the work done in management presents fertile ground for research and theory development.

Keywords: descriptive theory, PhD research design, theoretical framework, construction management

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Authors: Yunqi Wang

Abstract:

As a vital region to the Chinese Belt and Road Initiative (BRI), members of the Association of Southeast Asian Nations (ASEAN) have responded to the grand strategy differently. Some expressed fervent support, while others played the 'hedging' card between great powers. This paper explores the underlying rationale behind such complexity by proposing two theoretical explanations: a Regionalism Hypothesis, where countries respond with hedging, balancing, and bandwagoning behaviours in line with national interests and norm-based 'ASEAN-Way'; and a Ladder-up Hypothesis, where countries consider the initiative as an incentive to remove bottlenecks of climbing up the economic ladder in Rostow's stage of the growth model. By analysing reactions from Myanmar, Laos, Indonesia, and Singapore, two patterns are observed. On an empirical note, the more developed economies are more inclined to the Regionalist explanation. On a theoretical note, there has been a gradual convergence between the two explanations, given the impact of economic globalisation on ASEAN. This paper will contribute to the current theoretical vacancy in the study of ASEAN and BRI by capturing the particular norms shared by this regional entity.

Keywords: ASEAN, belt and road initiative, hedging, Rostow's stages of growth, regionalism

Procedia PDF Downloads 105

Authors: Abiodun Olayinka, Daniel Dzidzienyo, Pangirayi Tongoona, Samuel Offei, Edwige Gaby Nkouaya Mbanjo, Chiedozie Egesi, Ismail Yusuf Rabbi

Abstract:

Cassava (Manihot esculenta Crantz) is a major source of starch for various industrial applications. However, the traditional cultivation and harvesting methods of cassava are labour-intensive and inefficient, limiting the supply of fresh cassava roots for industrial starch production. To achieve improved productivity and quality of fresh cassava roots through mechanized cultivation, cassava cultivars with compact plant architecture and moderate plant height are needed. Plant architecture-related traits, such as plant height, harvest index, stem diameter, branching angle, and lodging tolerance, are critical for crop productivity and suitability for mechanized cultivation. However, the genetics of cassava plant architecture remain poorly understood. This study aimed to identify the genetic bases of the relationships between plant architecture traits and productivity-related traits, particularly starch content. A panel of 453 clones developed at the International Institute of Tropical Agriculture, Nigeria, was genotyped and phenotyped for 18 plant architecture and productivity-related traits at four locations in Nigeria. A genome-wide association study (GWAS) was conducted using the phenotypic data from a panel of 453 clones and 61,238 high-quality Diversity Arrays Technology sequencing (DArTseq) derived Single Nucleotide Polymorphism (SNP) markers that are evenly distributed across the cassava genome. Five significant associations between ten SNPs and three plant architecture component traits were identified through GWAS. We found five SNPs on chromosomes 6 and 16 that were significantly associated with shoot weight, harvest index, and total yield through genome-wide association mapping. We also discovered an essential candidate gene that is co-located with peak SNPs linked to these traits in M. esculenta. A review of the cassava reference genome v7.1 revealed that the SNP on chromosome 6 is in proximity to Manes.06G101600.1, a gene that regulates endodermal differentiation and root development in plants. The findings of this study provide insights into the genetic basis of plant architecture and yield in cassava. Cassava breeders could leverage this knowledge to optimize plant architecture and yield in cassava through marker-assisted selection and targeted manipulation of the candidate gene.

Keywords: Manihot esculenta Crantz, plant architecture, DArtseq, SNP markers, genome-wide association study

Procedia PDF Downloads 55

Authors: Gyongyver Csapo, Andrea Czibor

Abstract:

Machiavellianism is a personality trait based on the exploitation and deception of others. Machiavellian individuals are motivated to gain and to maintain power with the help of their strategic thinking, manipulation tactics, and interpersonal skills. Consequently, Machiavellianism is treated as a personality trait that can affect an individual’s career and work-related behavior. The aim of our research is to provide a narrative psychological approach to Machiavellianism in order to get a more comprehensive picture about the attitudes, values, and work-related behaviors of Machiavellian individuals. In this study, semi-structured interviews were made with employees (N=275) about their work-related experiences. Additionally, participants completed questionnaires about their turnover intention and perceived stress. The interviews were examined with narrative psychological content analysis and thematic analyzes. Based on the thematic analysis, mentioning of two topics (recognition at work and control) were associated with Machiavellianism. Scientific narrative psychological content analysis showed a negative association between Machiavellianism and positive emotions. Turnover intention and the magnitude of perceived work-related stress showed a significant positive correlation with Machiavellianism. In this study, qualitative and quantitative methodologies were combined in order to get a deeper insight of Machiavellianism from an organizational psychological perspective. Our research can contribute to a better understanding of this personality trait and provides an excellent basis for further investigations.

Keywords: machiavellianism, narrative psychology, turnover intention, work-related stress

Procedia PDF Downloads 122

Authors: O. O. Sufyani, M. E. Oraiby, S. A. Qumaiy, A. I. Alaamri, Z. M. Eisa, A. M. Hakami, M. A. Attafi, O. M. Alhassan, W. M. Elsideeg, E. M. Noureldin, Y. A. Hobani, Y. Q. Majrabi, I. A. Khardali, A. B. Maashi, A. A. Al Mane, A. H. Hakami, I. M. Alkhyat, A. A. Sahly, I. M. Attafi

Abstract:

According to the Food and Agriculture Organization (FAO) Pesticides Use Database, pesticide use in agriculture in Saudi Arabia has more than doubled from 4539 tons in 2009 to 10496 tons in 2019. Among pesticides, pyrethroids is commonly used in Saudi Arabia. Pesticides may increase susceptibility to a variety of diseases, particularly among pesticide workers, due to their extensive use, indiscriminate use, and long-term exposure. Therefore, analyzing blood chemo-profiles and evaluating the detected substances as biomarkers for pyrethroid pesticide exposure may assist to identify and predicting adverse effects of exposure, which may be used for both preventative and risk assessment purposes. The purpose of this study was to (a) analyze chemo-profiling by Gas Chromatography-Mass Spectrometry (GC-MS) analysis, (b) identify the most commonly detected chemicals in a time-exposure-dependent manner using a Venn diagram, and (c) identify their associated disease among pesticide workers using analyzer tools on the Comparative Toxicogenomics Database (CTD) website, (250 healthy male volunteers (20-60 years old) who deal with pesticides in the Jazan region of Saudi Arabia (exposure intervals: 1-2, 4-6, 6-8, more than 8 years) were included in the study. A questionnaire was used to collect demographic information, the duration of pesticide exposure, and the existence of chronic conditions. Blood samples were collected for biochemistry analysis and extracted by solid-phase extraction for gas chromatography-mass spectrometry (GC-MS) analysis. Biochemistry analysis reveals no significant changes in response to the exposure period; however, an inverse association between the albumin level and the exposure interval was observed. The blood chemo-profiling was differentially expressed in an exposure time-dependent manner. This analysis identified the common chemical set associated with each group and their associated significant occupational diseases. While some of these chemicals are associated with a variety of diseases, the distinguishing feature of these chemically associated disorders is their applicability for prevention measures. The most interesting finding was the identification of several chemicals; erucic acid, pelargonic acid, alpha-linolenic acid, dibutyl phthalate, diisobutyl phthalate, dodecanol, myristic Acid, pyrene, and 8,11,14-eicosatrienoic acid, associated with pneumoconiosis, asbestosis, asthma, silicosis and berylliosis. Chemical-disease association study also found that cancer, digestive system disease, nervous system disease, and metabolic disease were the most often recognized disease categories in the common chemical set. The hierarchical clustering approach was used to compare the expression patterns and exposure intervals of the chemicals found commonly. More study is needed to validate these chemicals as early markers of pyrethroid insecticide-related occupational disease, which might assist evaluate and reducing risk. The current study contributes valuable data and recommendations to public health.

Keywords: occupational, toxicology, chemo-profiling, pesticide, pyrethroid, GC-MS

Procedia PDF Downloads 89

Authors: Seon-Young Lee, Harkiran Sagoo, Reem Farwana, Katharine Whitehurst, Alex Fowler, Riaz Agha

Abstract:

Background/Aims: Systematic reviews and meta-analysis are becoming increasingly important way of summarizing research evidence. Researches in ophthalmology may represent further challenges, due to their potential complexity in study design. The aim of our study was to determine the reporting quality of systematic reviews and meta-analysis in ophthalmology with the PRISMA statement, by assessing the articles published between 2010 and 2015 from five major journals with the highest impact factor. Methods: MEDLINE and EMBASE were used to search systematic reviews published between January 2010 and December 2015, in 5 major ophthalmology journals: Progress in Retinal and Eye Research, Ophthalmology, Archives of Ophthalmology, American Journal of Ophthalmology, Journal of the American Optometric Association. Screening, identification, and scoring of articles were performed independently by two teams, followed by statistical analysis including the median, range, and 95% CIs. Results: 115 articles were involved. The median PRISMA score was 15 of 27 items (56%), with a range of 5-26 (19-96%) and 95% CI 13.9-16.1 (51-60%). Compliance was highest in items related to the description of rationale (item 3,100%) and inclusion of a structured summary in the abstract (item 2, 90%), while poorest in indication of review protocol and registration (item 5, 9%), specification of risk of bias affecting the cumulative evidence (item 15, 24%) and description of clear objectives in introduction (item 4, 26%). Conclusion: The reporting quality of systematic reviews and meta-analysis in ophthalmology need significant improvement. While the use of PRISMA criteria as a guideline before journal submission is recommended, additional research identifying potential barriers may be required to improve the compliance to the PRISMA guidelines.

Keywords: systematic reviews, meta-analysis, research methodology, reporting quality, PRISMA, ophthalmology

Procedia PDF Downloads 255

Authors: Mathieu Hemono, Sophie Puig-Malet, Patrick Zylberman, Avner Bar-Hen, Rainer Sauerborn, Stefanie Schütte, Niamh Herlihi, Antoine Flahault et Anneliese Depoux

Abstract:

Since the IPCC released its first report in 1990, an increasing number of peer-reviewed publications have reported the health risks associated with climate change. Although there is a large body of evidence supporting the association between climate change and poor health outcomes, the media is inconsistent in the attention it pays to the subject matter. This study aims to analyze the modalities and rhetoric in the media concerning the impact of climate change on health in order to better understand its role in information dissemination. A review was conducted of articles published between 1990 and 2015 in the francophone newspapers Le Monde and Jeune Afrique. A detailed search strategy including specific climate and health terminology was used to search the newspapers’ online databases. 1202 articles were identified as having referenced the terms climate change and health. Inclusion and exclusion criteria were applied to narrow the search to articles referencing the effects of climate change on human health and 160 articles were included in the final analysis. Data was extracted and categorized to create a structured database allowing for further investigation and analysis. The review indicated that although 66% of the selected newspaper articles reference scientific evidence of the impact of climate change on human health, the focus on the topic is limited major political events or is circumstances relating to public health crises. Main findings also include that among the many direct and indirect health outcomes, infectious diseases are the main health outcome highlighted in association with climate change. Lastly, the articles suggest that while developed countries have caused most of the greenhouse effect, the global south is more immediately affected. Overall, the reviewed articles reinforce the need for international cooperation in finding a solution to mitigate the effects of climate change on health. The manner in which scientific results are communicated and disseminated, impact individual and collective perceptions of the topic in the public sphere and affect political will to shape policy. The results of this analysis will underline the modalities of the rhetoric of transparency and provide the basis for a perception study of media discourses. This study is part of an interdisciplinary project called 4CHealth that confronts results of the research done on scientific, political and press literature to better understand how the knowledge on climate changes and health circulates within those different fields and whether and how it is translated to real world change.

Keywords: climate change, health, health impacts, communication, media, rhetoric, awareness, Global South, Africa

Procedia PDF Downloads 416

Authors: Ayu Nabila Kusuma Pradana, Aprinaldi Jasa Mantau, Tomohiko Akahoshi

Abstract:

The incidence of Disseminated intravascular coagulation (DIC) following gastrointestinal surgery has a poor prognosis. Therefore, it is important to determine the factors that can predict the prognosis of DIC. This study will investigate the factors that may influence the outcome of DIC in patients after gastrointestinal surgery. Eighty-one patients were admitted to the intensive care unit after gastrointestinal surgery in Kyushu University Hospital from 2003 to 2021. Acute DIC scores were estimated using the new Japanese Association for Acute Medicine (JAAM) score from before and after surgery from day 1, day 3, and day 7. Acute DIC scores will be compared with The Sequential Organ Failure Assessment (SOFA) score, platelet count, lactate level, and a variety of biochemical parameters. This study applied machine learning algorithms to predict the prognosis of DIC after gastrointestinal surgery. The results of this study are expected to be used as an indicator for evaluating patient prognosis so that it can increase life expectancy and reduce mortality from cases of DIC patients after gastrointestinal surgery.

Keywords: the survival rate, gastrointestinal surgery, JAAM score, neural network, machine learning, disseminated intravascular coagulation (DIC)

Procedia PDF Downloads 241

Authors: Arezoo Fallahi

Abstract:

We aimed at investigating the association between health beliefs and exercise behavior in infertile women who were at risk of developing osteoporosis. This cross-sectional study was conducted in Sanandaj city, west of Iran in 2018. From 35 comprehensive healthcare centers, 483 infertile women were included in the study through convenience sampling. Standardized face-to-face interviews were conducted using established, reliable instruments for the assessment of exercise behavior behavior and health beliefs. Logistic regression models were applied to assess the association between exercise behavior and health beliefs. Estimates were adjusted for age, job status, income, literacy, and duration and type of infertility. We reported estimated logits and Odds Ratios (OR) with corresponding 95% confidence intervals (95% CI). Employed women compared to housewives had substantially higher odds of adopting exercise behavior behaviors (OR=3.19, 95% CI=1.53-6.66, p<0.01). Moreover, the odds of exercise behavior adoption increased with self-efficacy (OR=1.35, 95% CI=1.20-1.52, p<0.01), and decreased with perceived barriers (OR=0.90, 95% CI=0.84-0.97, p<0.01). It is essential to increase perceived self-efficacy and reduce perceived barriers to promote EB in infertile women. Consequently, health professionals should develop or adopt appropriate strategies to decrease barriers and increase self-efficacy to enhance exercise behavior in this group of women.

Keywords: infertility, women, exercise, osteoporosis

Procedia PDF Downloads 64

Authors: Uchenna Cosmas Ugwu, Osmond Chukwuemeka Ene

Abstract:

Globally, older adults are considered the most vulnerable groups to age-related diseases including diabetes mellitus, obesity, cardiovascular diseases, cancer and osteoporosis. With improved access to quality healthcare services, these complications can be prevented and the incidence rates reduced to the least occurrence. The aim of this study is to validate appropriate measures for improving quality healthcare services utilization among elderly persons in Nigeria and also to determine the significant association within demographic variables. A cross-sectional survey research design was adopted. Using a convenient sampling technique, a total of 400 experts (150 registered nurses and 250 public health professionals) with minimum of doctoral degree qualification were sampled and studied. A structured instrument titled “Expert-Based Healthcare Services Utilization Questionnaire (EBHSUQ) with .83 reliability index was used for data collection. All the statistical data analysis was completed using frequency counts, percentage scores and chi-square statistics. The results were significant at p≤0.05. It was found that quality healthcare services utilization by elderly persons in Nigeria would be improved if the services are: available (83%), affordable (82%), accessible (79%), suitable (77%), acceptable (77%), continuous (75%) and stress-free (75%). Statistically, significant association existed on quality healthcare services utilization with gender (p=.03<.05) and age (p=.01<.05) while none was observed on work experience (p=.23>.05), marital status (p=.11>.05) and employment category (p=.09>.05). To improve quality healthcare services utilization for elderly persons in Nigeria, the adoption of appropriate measures by Nigerian government and professionals in healthcare sectors are paramount. Therefore, there is need for collaborative efforts by the Nigerian government and healthcare professionals geared towards educating the general public through mass sensitization, awareness campaign, conferences, seminars and workshops for the importance of accessing healthcare services.

Keywords: elderly persons, healthcare services, cross-sectional survey research design, utilization.

Procedia PDF Downloads 44

Authors: Abiodun Olayinka, Daniel Dzidzienyo, Pangirayi Tongoona, Samuel Offei, Edwige Gaby Nkouaya Mbanjo, Chiedozie Egesi, Ismail Yusuf Rabbi

Abstract:

Cassava (Manihot esculenta Crantz) is a major source of starch for various industrial applications. However, the traditional cultivation and harvesting methods of cassava are labour-intensive and inefficient, limiting the supply of fresh cassava roots for industrial starch production. To achieve improved productivity and quality of fresh cassava roots through mechanized cultivation, cassava cultivars with compact plant architecture and moderate plant height are needed. Plant architecture-related traits, such as plant height, harvest index, stem diameter, branching angle, and lodging tolerance, are critical for crop productivity and suitability for mechanized cultivation. However, the genetics of cassava plant architecture remain poorly understood. This study aimed to identify the genetic bases of the relationships between plant architecture traits and productivity-related traits, particularly starch content. A panel of 453 clones developed at the International Institute of Tropical Agriculture, Nigeria, was genotyped and phenotyped for 18 plant architecture and productivity-related traits at four locations in Nigeria. A genome-wide association study (GWAS) was conducted using the phenotypic data from a panel of 453 clones and 61,238 high-quality Diversity Arrays Technology sequencing (DArTseq) derived Single Nucleotide Polymorphism (SNP) markers that are evenly distributed across the cassava genome. Five significant associations between ten SNPs and three plant architecture component traits were identified through GWAS. We found five SNPs on chromosomes 6 and 16 that were significantly associated with shoot weight, harvest index, and total yield through genome-wide association mapping. We also discovered an essential candidate gene that is co-located with peak SNPs linked to these traits in M. esculenta. A review of the cassava reference genome v7.1 revealed that the SNP on chromosome 6 is in proximity to Manes.06G101600.1, a gene that regulates endodermal differentiation and root development in plants. The findings of this study provide insights into the genetic basis of plant architecture and yield in cassava. Cassava breeders could leverage this knowledge to optimize plant architecture and yield in cassava through marker-assisted selection and targeted manipulation of the candidate gene.

Keywords: manihot esculenta crantz, plant architecture, dartseq, snp markers, genome-wide association study

Procedia PDF Downloads 78

Authors: Atsuko Okazaki, Jurg Ott

Abstract:

Some genetic diseases (‘digenic traits’) are due to the interaction between two DNA variants. For example, certain forms of Retinitis Pigmentosa (a genetic form of blindness) occur in the presence of two mutant variants, one in the ROM1 gene and one in the RDS gene, while the occurrence of only one of these mutant variants leads to a completely normal phenotype. Detecting such digenic traits by genetic methods is difficult. A common approach to finding disease-causing variants is to compare 100,000s of variants between individuals with a trait (cases) and those without the trait (controls). Such genome-wide association studies (GWASs) have been very successful but hinge on genetic effects of single variants, that is, there should be a difference in allele or genotype frequencies between cases and controls at a disease-causing variant. Frequent pattern mining (FPM) methods offer an avenue at detecting digenic traits even in the absence of single-variant effects. The idea is to enumerate pairs of genotypes (genotype patterns) with each of the two genotypes originating from different variants that may be located at very different genomic positions. What is needed is for genotype patterns to be significantly more common in cases than in controls. Let Y = 2 refer to cases and Y = 1 to controls, with X denoting a specific genotype pattern. We are seeking association rules, ‘X → Y’, with high confidence, P(Y = 2|X), significantly higher than the proportion of cases, P(Y = 2) in the study. Clearly, generally available FPM methods are very suitable for detecting disease-associated genotype patterns. We use fpgrowth as the basic FPM algorithm and built a framework around it to enumerate high-frequency digenic genotype patterns and to evaluate their statistical significance by permutation analysis. Application to a published dataset on opioid dependence furnished results that could not be found with classical GWAS methodology. There were 143 cases and 153 healthy controls, each genotyped for 82 variants in eight genes of the opioid system. The aim was to find out whether any of these variants were disease-associated. The single-variant analysis did not lead to significant results. Application of our FPM implementation resulted in one significant (p < 0.01) genotype pattern with both genotypes in the pattern being heterozygous and originating from two variants on different chromosomes. This pattern occurred in 14 cases and none of the controls. Thus, the pattern seems quite specific to this form of substance abuse and is also rather predictive of disease. An algorithm called Multifactor Dimension Reduction (MDR) was developed some 20 years ago and has been in use in human genetics ever since. This and our algorithms share some similar properties, but they are also very different in other respects. The main difference seems to be that our algorithm focuses on patterns of genotypes while the main object of inference in MDR is the 3 × 3 table of genotypes at two variants.

Keywords: digenic traits, DNA variants, epistasis, statistical genetics

Procedia PDF Downloads 109