Search results for: autosomal recessive genetic disorder (ARGD)

Authors: Rahele Mesbah, Nic Van Der Wee, Manja Koenders, Erik Giltay, Albert Van Hemert, Max De Leeuw

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Introduction: Patients with bipolar disorder (BD), characterized by depressive and manic episodes, often suffer from cognitive dysfunction. An up-to-date meta-analysis of functional Magnetic Resonance Imaging (fMRI) studies examining cognitive function in BD is lacking. Objective: The aim of the current fMRI meta-analysis is to investigate brain functioning of bipolar patients compared with healthy subjects within three domains of emotion processing, reward processing, and working memory. Method: Differences in brain regions activation were tested within whole-brain analysis using the activation likelihood estimation (ALE) method. Separate analyses were performed for each cognitive domain. Results: A total of 50 fMRI studies were included: 20 studies used an emotion processing (316 BD and 369 HC) task, 9 studies a reward processing task (215 BD and 213 HC), and 21 studies used a working memory task (503 BD and 445 HC). During emotion processing, BD patients hyperactivated parts of the left amygdala and hippocampus as compared to HC’s, but showed hypoactivation in the inferior frontal gyrus (IFG). Regarding reward processing, BD patients showed hyperactivation in part of the orbitofrontal cortex (OFC). During working memory, BD patients showed increased activity in the prefrontal cortex (PFC) and anterior cingulate cortex (ACC). Conclusions: This meta-analysis revealed evidence for activity disturbances in several brain areas involved in the cognitive functioning of BD patients. Furthermore, most of the found regions are part of the so-called fronto-limbic network which is hypothesized to be affected as a result of BD candidate genes' expression.

Keywords: cognitive functioning, fMRI analysis, bipolar disorder, fronto-limbic network

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Authors: Shahab Mirzaean Mahabadi, Elham Ebrahimi

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The urban development process in the historical urban context has predominately witnessed two main approaches: the first is the Preservation and conservation of the urban fabric and its value, and the second approach is urban renewal and redevelopment. The latter is generally supported by political and economic aspirations. These two approaches conflict evidently. The authors go through the history of urban planning in order to review the historical development of the mentioned approaches. In this article, various values which are inherent in the historical fabric of a city are illustrated by emphasizing on cultural identity and activity. In the following, it is tried to find an optimized plan which maximizes economic development and minimizes change in historical-cultural sites simultaneously. In the proposed model, regarding the decision maker’s intention, and the variety of functions, the selected zone is divided into a number of components. For each component, different alternatives can be assigned, namely, renovation, refurbishment, destruction, and change in function. The decision Variable in this model is to choose an alternative for each component. A set of decisions made upon all components results in a plan. A plan developed in this way can be evaluated based on the decision maker’s point of view. That is, interactions between selected alternatives can make a foundation for the assessment of urban context to design a historical-cultural landscape. A genetic algorithm (GA) approach is used to search for optimal future land use within the historical-culture landscape for a sustainable high-growth city.

Keywords: urban sustainability, green city, regeneration, genetic algorithm

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Authors: John McDowall, Lucy Lightfoot

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Stigma constitutes a significant barrier to the recovery and social integration of individuals affected by mental illness. Although there is some debate in the literature regarding the definition and utility of stigma as a concept, it is widely accepted that it comprises three components: stereotypical beliefs, prejudicial reactions, and discrimination. Stereotypical beliefs describe the cognitive knowledge-based component of stigma, referring to beliefs (often negative) about members of a group that is based on cultural and societal norms (e.g. ‘People with anxiety are just weak’). Prejudice refers to the affective/evaluative component of stigma and describes the endorsement of negative stereotypes and the resulting negative emotional reactions (e.g. ‘People with anxiety are just weak, and they frustrate me’). Discrimination refers to the behavioural component of stigma, which is arguably the most problematic, as it exerts a direct effect on the stigmatized person and may lead people to behave in a hostile or avoidant way towards them (i.e. refusal to hire them). Research exploring anti-stigma initiatives focus primarily on an educational approach, with the view that accurate information will replace misconceptions and decrease stigma. Many approaches take a biogenetic stance, emphasising brain and biochemical deficits - the idea being that ‘mental illness is an illness like any other.' While this approach tends to effectively reduce blame, it has also demonstrated negative effects such as increasing prognostic pessimism, the desire for social distance and perceptions of stereotypes. In the present study 144 participants were split into three groups and read one of three vignettes presenting causal explanations for Generalised Anxiety Disorder (GAD): One explanation emphasized biogenetic factors as being important in the etiology of GAD, another emphasised psychosocial factors (e.g. aversive life events, poverty, etc.), and a third stressed the adaptive features of the disorder from an evolutionary viewpoint. A variety of measures tapping the various components of stigma were administered following the vignettes. No difference in stigma measures as a function of causal explanation was found. People who had contact with mental illness in the past were significantly less stigmatising across a wide range of measures, but this did not interact with the type of causal explanation.

Keywords: generalised anxiety disorder, discrimination, prejudice, stigma

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Authors: Clara Tramuta, Floris Irene, Daniela Manila Bianchi, Monica Pitti, Giulia Federica Cazzaniga, Lucia Decastelli

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This work presents the results obtained by the Regional Reference Centre for Salmonella Typing (CeRTiS) in a retrospective study aimed to investigate, through Pulsed-field Gel Electrophoresis (PFGE) analysis, the genetic relatedness of emerging Salmonella serotypes of human origin circulating in North-West of Italy. Furthermore, the goal of this work was to create a Regional database to facilitate foodborne outbreak investigation and to monitor them at an earlier stage. A total of 112 strains, isolated from 2016 to 2018 in hospital laboratories, were included in this study. The isolates were previously identified as Salmonella according to standard microbiological techniques and serotyping was performed according to ISO 6579-3 and the Kaufmann-White scheme using O and H antisera (Statens Serum Institut®). All strains were characterized by PFGE: analysis was conducted according to a standardized PulseNet protocol. The restriction enzyme XbaI was used to generate several distinguishable genomic fragments on the agarose gel. PFGE was performed on a CHEF Mapper system, separating large fragments and generating comparable genetic patterns. The agarose gel was then stained with GelRed® and photographed under ultraviolet transillumination. The PFGE patterns obtained from the 112 strains were compared using Bionumerics version 7.6 software with the Dice coefficient with 2% band tolerance and 2% optimization. For each serotype, the data obtained with the PFGE were compared according to the geographical origin and the year in which they were isolated. Salmonella strains were identified as follow: S. Derby n. 34; S. Infantis n. 38; S. Napoli n. 40. All the isolates had appreciable restricted digestion patterns ranging from approximately 40 to 1100 kb. In general, a fairly heterogeneous distribution of pulsotypes has emerged in the different provinces. Cluster analysis indicated high genetic similarity (≥ 83%) among strains of S. Derby (n. 30; 88%), S. Infantis (n. 36; 95%) and S. Napoli (n. 38; 95%) circulating in north-western Italy. The study underlines the genomic similarities shared by the emerging Salmonella strains in Northwest Italy and allowed to create a database to detect outbreaks in an early stage. Therefore, the results confirmed that PFGE is a powerful and discriminatory tool to investigate the genetic relationships among strains in order to monitoring and control Salmonellosis outbreak spread. Pulsed-field gel electrophoresis (PFGE) still represents one of the most suitable approaches to characterize strains, in particular for the laboratories for which NGS techniques are not available.

Keywords: emerging Salmonella serotypes, genetic characterization, human strains, PFGE

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Authors: Mohammed Asiri, Saleh Alsuwayt, Mohammed Bin Mugren, Abdulmalik Almufarrih, Tariq Alotaibi, Saad Almodameg

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Background: End-stage renal disease is a major public health concern with high incidence and mortality rate. Most of ESRD patients are on hemodialysis therapy which is a long-term treatment that disturbs patients’ lifestyle. As a result, he will be susceptible to develop psychiatric disorders like anxiety that may direct him to non-compliance on physician instructions and hemodialysis therapy. Although there are studies conducted on psychiatric issues in hemodialysis patients, but few studies focused on the effect of anxiety disorder and the patient’s compliance. Hence, we are interested in determining the prevalence of anxiety disorder among hemodialysis patients in Saudi Arabia, as well as in defining the correlation between anxiety disorder and compliance on physician instructions and hemodialysis therapy. We hypothesize that our study will show a higher prevalence of anxiety in hemodialysis patients than in general population. Also, we expect the anxiety to have a negative impact on their compliance. Methodology: We used a cross-sectional study design carried out at dialysis unit of four major hospitals in Riyadh, KSA. We interviewed 235 End Stage Renal Disease male and female patients who are on hemodialysis. We divided the patients into two categories according to their compliance. we used modified general questionnaire to get their demographic data, then we used a psychometric response scale called visual analog scale (VAS) to assess patient’s compliance to hemodialysis and physician’s instructions. Also, we used the Arabic validated version of the hospital anxiety and depression scale (HAD scale) used mainly for anxiety assessment. Results: The overall response rate was 54%. Respondents included 147 (62.6%) males and 88 (37.4%) females. The prevalence of anxiety among hemodialysis patients is 13.3%. According to visual analog scale, we found that 189 compliant patients and 45 non-compliant patients. For HAD scale, the mean ± standard deviation of the total score for females was (4.44 ± 4.7) and it’s higher than males which was 2.65 ± 3.08 (P-value= 0.002). The mean ± standard deviation of HAD score in the non-compliant group was (5.88  4.88) and it was higher than the compliant group (2.7  3.32) (P-value= 0.004). Among non-complaint group, 33.3% of anxious patients were males and 66.6% were females. There was a negative correlation between HAD score of anxiety and visual analog scale (R= - 0.285). Conclusion: We conclude that there is a high prevalence of anxiety among patients with End Stage Renal Disease that was higher in females with association of non-compliance to physician’s instructions and hemodialysis therapy.

Keywords: anxiety, end-stage renal disease, renal failure, anxiety disorder

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Authors: Wing Chi Wong

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Globally, studying parents caring for children with attention deficit/ hyperactivity disorder (ADHD) is valuable in order to design measures in supporting those parents by health care providers and government. Such parents in Hong Kong seem to encounter detrimental stress and enormous difficulties which are exacerbated by the traditional Chinese culture, exclusion from social members and fiercely competitive educational system. However, seldom studies scrutinize this issue in Hong Kong. This article aims to review the literature regarding parents caring offsprings with ADHD in Hong Kong. Criteria were set for searching among published studies listed in various databases, including MEDLINE, CINCAHL, PsycINFO, ProQuest, Embase, Cochrane Library and Springer Link. Articles with words 'Attention Deficit Hyperactivity Disorder', 'parenting', 'parent', 'family', 'father', 'mother', 'care' in titles and abstracts were identified. Articles with all types of research designs and methods, regardless in English or Chinese, were included. They were limited to years between January 2008 and September 2018. Four relevant studies have resulted. Of them, two were exploratory studies, one was a qualitative study, and one was a survey. Samples were recruited from child psychiatric clinic, Child and Adolescent Mental Health Unit, or multiple family group therapy centres. Authors proclaimed that quality of life of those parents was usually low; particularly mothers perceived a higher stress than fathers; parenting barriers existed; conflicts were commonly raised in parent-child relationship resulting in probable maltreatment to children. Previous studies generally suggested the potential negative outcomes of parents caring children with ADHD. The types and effectiveness of interventions to those parents on relieving their tortures under Hong Kong context had not been explored and systematically evaluated. The scanty studies and existing understanding could not give a promising conclusion pertaining to the appropriate family intervention to parents living with children with ADHD. A stringent research design is necessary to establish evidence on the effectiveness of interventions for those families.

Keywords: attention deficit/ hyperactivity disorder, Hong Kong, parents, interventions

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Authors: Sheren H. Salah

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The inverted pendulum is a highly nonlinear and open-loop unstable system. An inverted pendulum (IP) is a pendulum which has its mass above its pivot point. It is often implemented with the pivot point mounted on a cart that can move horizontally and may be called a cart and pole. The characteristics of the inverted pendulum make identification and control more challenging. This paper presents the simulation study of several control strategies for an inverted pendulum system. The goal is to determine which control strategy delivers better performance with respect to pendulum’s angle. The inverted pendulum represents a challenging control problem, which continually moves toward an uncontrolled state. For controlling the inverted pendulum. The simulation study that sliding mode control (SMC) control produced better response compared to Genetic Algorithm Control (GAs) and proportional-integral-derivative(PID) control.

Keywords: Inverted Pendulum (IP) Proportional-Integral-Derivative (PID), Genetic Algorithm Control (GAs), Sliding Mode Control (SMC)

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Authors: Younis Elhaddad, Alfonso Ortega

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Oil production by means of gas lift is a standard technique in oil production industry. To optimize the total amount of oil production in terms of the amount of gas injected is a key question in this domain. Different methods have been tested to propose a general methodology. Many of them apply well-known numerical methods. Some of them have taken into account the power of evolutionary approaches. Our goal is to provide the experts of the domain with a powerful automatic searching engine into which they can introduce their knowledge in a format close to the one used in their domain, and get solutions comprehensible in the same terms, as well. These proposals introduced in the genetic engine the most expressive formal models to represent the solutions to the problem. These algorithms have proven to be as effective as other genetic systems but more flexible and comfortable for the researcher although they usually require huge search spaces to justify their use due to the computational resources involved in the formal models. The first step to evaluate the viability of applying our approaches to this realm is to fully understand the domain and to select an instance of the problem (gas lift optimization) in which applying genetic approaches could seem promising. After analyzing the state of the art of this topic, we have decided to choose a previous work from the literature that faces the problem by means of numerical methods. This contribution includes details enough to be reproduced and complete data to be carefully analyzed. We have designed a classical, simple genetic algorithm just to try to get the same results and to understand the problem in depth. We could easily incorporate the well mathematical model, and the well data used by the authors and easily translate their mathematical model, to be numerically optimized, into a proper fitness function. We have analyzed the 100 curves they use in their experiment, similar results were observed, in addition, our system has automatically inferred an optimum total amount of injected gas for the field compatible with the addition of the optimum gas injected in each well by them. We have identified several constraints that could be interesting to incorporate to the optimization process but that could be difficult to numerically express. It could be interesting to automatically propose other mathematical models to fit both, individual well curves and also the behaviour of the complete field. All these facts and conclusions justify continuing exploring the viability of applying the approaches more sophisticated previously proposed by our research group.

Keywords: evolutionary automatic programming, gas lift, genetic algorithms, oil production

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Authors: Sara Sahraoui

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This research studied the effect of Alzheimer's disease (AD) on language information processing in subjects with Alzheimer’s disease (AD) who were bilingual (French and dialectical Arabic). The results show a disorder of certain semantic aspects of their mother tongue (L1). On the other hand, grammatical levels appeared to be relatively unaffected in oral speech in L1 but were disturbed in the second language (L2). In consequence, we constructed a cognitive-language stimulation protocol for bilingual patients (PSCLAB) to respond to this disorder. The efficacy of this protocol in terms of rehabilitation was assessed in 30 such patients through discourse analysis carried out before and after initiating the protocol. The results show that cognitive/language training using the PSCLAB appears to improve the language behaviour of bilingual patients with AD. However, this survey study aims to verify the satisfaction of patients’ relatives with the results of cognitive language training by PSCLAB. We developed a brief instrument to measure the satisfaction of family members. The results report that the patient's relatives are satisfied with the results of cognitive training by PSCLAB.

Keywords: satisfaction, Alzheimer's disease, rehabilitation, levels language

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Authors: Ankur Kapur, Moosath Vasudevan

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This movie review looks at the depiction of mental illness in popular cinema, using the movie A Beautiful Mind as a case study. It tries to understand cinema and media from a clinical psychology perspective in terms of the portrayal of symptoms and caregiver support. The review aims to analyze the portrayal of schizophrenia in the book and the movie ‘A Beautiful Mind’ on Professor John Nash. It will analyze the differences in portrayal of schizophrenia, under different media and the creative applications of the author, directors and actors in depicting the disorder as closely as it is understood in Clinical Psychology. The differences would be studied for romanticisation of symptoms in the book and the movie. Even within a medium (only the movie), verbal and non-verbal cues of the disorder will be compared for the depiction of schizophrenia. The study will dwell on the comparative description of how the caregivers coped with the patient and his illness. For this, the study will understand it through the lens of Bowen’s Family Systems Theory.

Keywords: caregiver, communication, media, systems theory

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Authors: L. Beltran, S. Solano, T. Lacruz, M. Blanco, M. Rojo, M. Graell, A. R. Sepulveda

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Introduction and Objective: Given the difficulties of assessing Binge Eating Disorder during childhood, episodes of Loss of Control (LOC) eating can be a key symptom. The objective is to know the prevalence of food psychopathology depending on the type of evaluation and find out which psychological characteristics differentiate overweight or obese children who present LOC from those who do not. Material and Methods: 170 children from 8 to 12 years of age with overweight or obesity (P > 85) were evaluated through the Primary Care Centers of Madrid. Sociodemographic data and psychological measures were collected through the Kiddie-Schedule for Affective Disorders & Schizophrenia, Present & Lifetime Version (K-SADS-PL) diagnostic interview and self-applied questionnaires: Children's eating attitudes (ChEAT), depressive symptomatology (CDI), anxiety (STAIC), general self-esteem (LAWSEQ), body self-esteem (BES), perceived teasing (POTS) and perfectionism (CAPS). Results: 15.2% of the sample exceeded the ChEAT cut-off point, presenting a risk of pathological eating; 5.88% presented an Eating Disorder through the diagnostic interview (2.35% Binge Eating disorder), and 33.53% had LOC episodes. No relationship was found between the presence of LOC and clinical diagnosis of eating disorders according to DSM-V; however, the group with LOC presented a higher risk of eating psychopathology using the ChEAT (p < .02). Significant differences were found in the group with LOC (p < .02): higher z-BMI, lower body self-esteem, greater anxious symptomatology, greater frequency of teasing towards weight, and greater effect of teasing both towards weight and competitions; compared to their peers without LOC. Conclusion: According to previous studies in samples with overweight children, in this Spanish sample of children with obesity, we found a prevalence of moderate eating disorder and a high presence of LOC episodes, which is related to both eating and general psychopathology. These findings confirm that the exclusion of LOC episodes as a diagnostic criterion can underestimate the presence of eating psychopathology during this developmental stage. According to these results, it is highly recommended to promote school context programs that approach LOC episodes in order to reduce associated symptoms. This study is included in a Project funded by the Ministry of Innovation and Science (PSI2011-23127).

Keywords: childhood obesity, eating psychopathology, loss-of-control eating, psychological symptomatology

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Authors: Shatha A. Yousif, Hatem Jasim, Ali R. Abas, Dheya P. Yousef

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To study the effect of the cross direction in bead wheat, three hybrid combinations (Babyle 113 , Iratome), (Sawa , Tamose2) and (Al Hashymya Al Iraq) were tested for plant height, number of tillers/m, number of grains per spike, weight of grains per spike, 1000-grain weight and grain yield. The results revealed that the direction of the cross had significant effect the number of grain/spike, tillers/m and grain yields. Grain yield was positively and significantly correlated with 1000-grain weight, number of grains per spike and tillers. Depend on the result of heritability and genetic advance it was suggested that 1000-grain weight number of grains per spike and tillers should be given emphasis for future wheat yield improvement programs.

Keywords: correlation, genetic advance, heritability, wheat, yield traits

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Authors: Faheema Khan

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In order to investigate the influence of genetic background on salt tolerance in Soybean (Glycine max) ten soybean genotypes released/notified in India were selected. (Pusa-20, Pusa-40, Pusa-37, Pusa-16, Pusa-24, Pusa-22, BRAGG, PK-416, PK-1042, and DS-9712). The 10-day-old seedlings were subjected to 0, 25, 50, 75, 100, 125, and 150 mM NaCl for 15 days. Plant growth, leaf osmotic adjustment, and RAPD analysis were studied. In comparison to control plants, the plant growth in all genotypes was decreased by salt stress, respectively. Salt stress decreased leaf osmotic potential in all genotypes however the maximum reduction was observed in genotype Pusa-24 followed by PK-416 and Pusa-20. The difference in osmotic adjustment between all the genotypes was correlated with the concentrations of ion examined such as Na+ and the leaf proline concentration. These results suggest that the genotypic variation for salt tolerance can be partially accounted for by plant physiological measures. The genetic polymorphisms between soybean genotypes differing in response to salt stress were characterized using 25 RAPD primers. These primers generated a total of 1640 amplification products, among which 1615 were found to be polymorphic. A very high degree of polymorphism (98.30%) was observed. UPGMA cluster analysis of genetic similarity indices grouped all the genotypes into two major clusters. Intra-clustering within the two clusters precisely grouped the 10 genotypes in sub-cluster as expected from their physiological findings. Our results show that RAPD technique is a sensitive, precise and efficient tool for genomic analysis in soybean genotypes.

Keywords: glycine max, NaCl, RAPD, proteomics

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Authors: Abraham J. Domb

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Nearly every eye disorder and treatment of post operated eyes evolve around ocular drug delivery. Most ocular diseases are treated with repeated topical applications administered as eye drops. Various attempts have been made to improve drug bioavailability by increasing both the retention of the drug in the pre-corneal area and the penetration of the drug through the cornea. However, currently marketed products are associated with vision blurring, irritability, patient discomfort, toxicity, low drug bioavailability, manufacturing difficulties and inadequate aqueous stability. It has been suggested to use iontophoresis for the non-invasive delivery of drugs. The iontophoretic device is composed of a control panel, two electrodes, a cylindrical well for the insertion of a disposable hydrogel, and a disposable hydrogel pellet. The drug-loaded hydrogel is attached to a cylindrical well at the edge of the electrode of the device and placed onto the eye. The device applies a variable electrical current that can vary from 0.1 mA to 1.5 mA for pre-set periods from 10 seconds to 300 seconds. The iontophoretic device developed in the lab was found to be effective in the delivery of the drugs: gentamicin, water-soluble steroids, and various anticancer agents. When testing in rabbits for safety, the device was considered to be non-toxic and effective.

Keywords: iontophoresis, eye disorder, drug delivery, hydrogel

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Authors: Ningning Liu, Gaoding Jia, Yinshan Wang, Haimei Li, Xinian Zuo, Yufeng Wang, Lu Liu, Qiujin Qian

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Background: There has been speculation that a high IQ may not necessarily provide protection against attention deficit hyperactivity disorder (ADHD), and there may be a U-shaped correlation between IQ and ADHD symptoms. However, this speculation has not been validated in the ADHD population in any study so far. Method: We conducted a study with 5,138 children who have been professionally diagnosed with ADHD and have a wide range of IQ levels. General Linear Models were used to determine the optimal model between IQ and ADHD core symptoms with sex and age as covariates. The ADHD symptoms we looked at included the total scores (TO), inattention (IA) and hyperactivity/impulsivity (HI). Wechsler Intelligence scale were used to assess IQ [Full-Scale IQ (FSIQ), Verbal IQ (VIQ), and Performance IQ (PIQ)]. Furthermore, we examined the correlation between IQ and the execution function [Behavior Rating Inventory of Executive Function (BRIEF)], as well as between IQ and brain surface area, to determine if the associations between IQ and ADHD symptoms are reflected in executive functions and brain structure. Results: Consistent with previous research, the results indicated that FSIQ and VIQ both showed a linear negative correlation with the TO and IA scores of ADHD. However, PIQ showed an inverted U-shaped relationship with the TO and HI scores of ADHD, with 103 as the peak point. These findings were also partially reflected in the relationship between IQ and executive functions, as well as IQ and brain surface area. Conclusion: To sum up, the relationship between IQ and ADHD symptoms is not straightforward. Our study confirms long-standing academic hypotheses and finds that PIQ exhibits an inverted U-shaped relationship with ADHD symptoms. This study enhances our understanding of symptoms and behaviors of ADHD with varying IQ characteristics and provides some evidence for targeted clinical intervention.

Keywords: ADHD, IQ, execution function, brain imaging

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Authors: Afsaneh Mohammadnejad, Marianne Nygaard, Jan Baumbach, Shuxia Li, Weilong Li, Jesper Lund, Jacob v. B. Hjelmborg, Lene Christensen, Qihua Tan

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Cognitive impairment in the elderly is a key issue affecting the quality of life. Despite a strong genetic background in cognition, only a limited number of single nucleotide polymorphisms (SNPs) have been found. These explain a small proportion of the genetic component of cognitive function, thus leaving a large proportion unaccounted for. We hypothesize that one reason for this missing heritability is the misspecified modeling in data analysis concerning phenotype distribution as well as the relationship between SNP dosage and the phenotype of interest. In an attempt to overcome these issues, we introduced a model-free method based on the generalized correlation coefficient (GCC) in a genome-wide association study (GWAS) of cognitive function in twin samples and compared its performance with two popular linear regression models. The GCC-based GWAS identified two genome-wide significant (P-value < 5e-8) SNPs; rs2904650 near ZDHHC2 on chromosome 8 and rs111256489 near CD6 on chromosome 11. The kinship model also detected two genome-wide significant SNPs, rs112169253 on chromosome 4 and rs17417920 on chromosome 7, whereas no genome-wide significant SNPs were found by the linear mixed model (LME). Compared to the linear models, more meaningful biological pathways like GABA receptor activation, ion channel transport, neuroactive ligand-receptor interaction, and the renin-angiotensin system were found to be enriched by SNPs from GCC. The GCC model outperformed the linear regression models by identifying more genome-wide significant genetic variants and more meaningful biological pathways related to cognitive function. Moreover, GCC-based GWAS was robust in handling genetically related twin samples, which is an important feature in handling genetic confounding in association studies.

Keywords: cognition, generalized correlation coefficient, GWAS, twins

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Authors: Feng Ji Mervin Goh, Edmund Chee Jian Pua, Stuart Alexander Cook

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Dilated cardiomyopathy (DCM) is a common cause of heart failure. Genetic mutations account for 50% of DCM cases with TTN mutations being the most common, accounting for up to 25% of DCM cases. However, the genetic architecture underlying Asian DCM patients is unknown. We evaluated 68 patients (female= 17) with DCM who underwent follow-up at the National Heart Centre, Singapore from 2013 through 2014. Clinical data were obtained and analyzed retrospectively. Genomic DNA was subjected to next-generation targeted sequencing. Nextera Rapid Capture Enrichment was used to capture the exons of a panel of 169 cardiac genes. DNA libraries were sequenced as paired-end 150-bp reads on Illumina MiSeq. Raw sequence reads were processed and analysed using standard bioinformatics techniques. The average age of onset of DCM was 46.1±10.21 years old. The average left ventricular ejection fraction (LVEF), left ventricular diastolic internal diameter (LVIDd), left ventricular systolic internal diameter (LVIDs) were 26.1±11.2%, 6.20±0.83cm, and 5.23±0.92cm respectively. The frequencies of mutations in major DCM-associated genes were as follows TTN (5.88% vs published frequency of 20%), LMNA (4.41% vs 6%), MYH7 (5.88% vs 4%), MYH6 (5.88% vs 4%), and SCN5a (4.41% vs 3%). The average callability at 10 times coverage of each major gene were: TTN (99.7%), LMNA (87.1%), MYH7 (94.8%), MYH6 (95.5%), and SCN5a (94.3%). In conclusion, TTN mutations are not common in Singaporean DCM patients. The frequencies of other major DCM-associated genes are comparable to frequencies published in the current literature.

Keywords: heart failure, dilated cardiomyopathy, genetics, next-generation sequencing

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Authors: Pawinee Innark, Hudsaya Punyanitikul, Chanuluk Khanobdee, Chatchawan Jantasuriyarat, Sompid Samipak

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One of the most devastating diseases in cucumber is downy mildew caused by the fungus Pseudoperonospora cubensis. To enable the use of marker-assisted breeding for resistance cultivars, sixty six microsatellite markers were used to map (quantitative trait loci) QTLs for DM resistance. Total of 315 F2 population from the cross between DM-resistant inbred line CSL0067 and susceptible CSL0139 were evaluated for downy mildew resistance in cotyledon, first and second true leaf at 7, 10, and 14 day after inoculation. The QTL analysis revealed that the downy mildew resistant genes were controlled by multiple recessive genes. From eight linkage groups (LG 1.1, 1.2, 2, 3, 4, 5.1, 5.2 and 6), fourteen QTL positions were detected on 4 linkage groups (LG 1.1, 2, 5.1 and 6) with the log of odd scores ranged from 3.538 to 9.165. Among them, Cot7_5.1_2 and Cot10_5.1 had major-effect QTL with the R2 values of 10.9 and 12.5%, respectively. The flanking markers for Cot7_5.1_2 were SSR19172 - SSR07531 markers and for Cot10_5.1 were SSR03943 - SSR00772. Besides QTLs on chromosome 1, 5 and 6 that were previously reported, this study also revealed a QTL for DM resistance on chromosome 2 that can be used as a new source in cucumber breeding program.

Keywords: cucumber, DNA marker, downy mildew, QTL

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Authors: Mustafa Malki, Ewan R. Pearson

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Tools utilized by health care practitioners to flag potential adverse drug reactions secondary to drug-drug interactions ignore individual genetic variation, which has the potential to markedly alter the severity of these interactions. To our best knowledge, there have been limited published studies on the impact of genetic variation on drug-drug interactions. Therefore, our aim in this project is the discovery of previously unrecognized, clinically important drug-drug-gene interactions (DDGIs) within the list of most commonly used drug combinations in the UK. The UKBB database was utilized to identify the top most frequently prescribed drug combinations in the UK with at least one route of interaction (over than 200 combinations were identified). We have recognised 37 common and unique interacting genes considering all of our drug combinations. Out of around 600 potential genetic variants found in these 37 genes, 100 variants have met the selection criteria (common variant with minor allele frequency ≥ 5%, independence, and has passed HWE test). The association between these variants and the use of each of our top drug combinations has been tested with a case-control analysis under the log-additive model. As the data is cross-sectional, drug intolerance has been identified from the genotype distribution as presented by the lower percentage of patients carrying the risky allele and on the drug combination compared to those free of these risk factors and vice versa with drug tolerance. In GoDARTs database, the same list of common drug combinations identified by the UKBB was utilized here with the same list of candidate genetic variants but with the addition of 14 new SNPs so that we have a total of 114 variants which have met the selection criteria in GoDARTs. From the list of the top 200 drug combinations, we have selected 28 combinations where the two drugs in each combination are known to be used chronically. For each of our 28 combinations, three drug response phenotypes have been identified (drug stop/switch, dose decrease, or dose increase of any of the two drugs during their interaction). The association between each of the three phenotypes belonging to each of our 28 drug combinations has been tested against our 114 candidate genetic variants. The results show replication of four findings between both databases : (1) Omeprazole +Amitriptyline +rs2246709 (A > G) variant in CYP3A4 gene (p-values and ORs with the UKBB and GoDARTs respectively = 0.048,0.037,0.92,and 0.52 (dose increase phenotype)) (2) Simvastatin + Ranitidine + rs9332197 (T > C) variant in CYP2C9 gene (0.024,0.032,0.81, and 5.75 (drug stop/switch phenotype)) (3) Atorvastatin + Doxazosin + rs9282564 (T > C) variant in ABCB1 gene (0.0015,0.0095,1.58,and 3.14 (drug stop/switch phenotype)) (4) Simvastatin + Nifedipine + rs2257401 (C > G) variant in CYP3A7 gene (0.025,0.019,0.77,and 0.30 (drug stop/switch phenotype)). In addition, some other non-replicated, but interesting, significant findings were detected. Our work also provides a great source of information for researchers interested in DD, DG, or DDG interactions studies as it has highlighted the top common drug combinations in the UK with recognizing 114 significant genetic variants related to drugs' pharmacokinetic.

Keywords: adverse drug reactions, common drug combinations, drug-drug-gene interactions, pharmacogenomics

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Authors: E. A. Mlybari, M. S. Elbisy, A. H. Alshahri, O. M. Albarakati

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Sea level rise threatens to increase the impact of future storms and hurricanes on coastal communities. Accurate sea level change prediction and supplement is an important task in determining constructions and human activities in coastal and oceanic areas. In this study, support vector machines (SVM) is proposed to predict daily tidal levels along the Jeddah Coast, Saudi Arabia. The optimal parameter values of kernel function are determined using a genetic algorithm. The SVM results are compared with the field data and with back propagation (BP). Among the models, the SVM is superior to BPNN and has better generalization performance.

Keywords: tides, prediction, support vector machines, genetic algorithm, back-propagation neural network, risk, hazards

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Authors: Saeid Jalilzadeh

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PID controllers are widely used to control the industrial plants because of their robustness and simple structures. Tuning of the controller's parameters to get a desired response is difficult and time consuming. With the development of computer technology and artificial intelligence in automatic control field, all kinds of parameters tuning methods of PID controller have emerged in endlessly, which bring much energy for the study of PID controller, but many advanced tuning methods behave not so perfect as to be expected. Honey Bee algorithm (HBA) and genetic algorithm (GA) are extensively used for real parameter optimization in diverse fields of study. This paper describes an application of HBA and GA to the problem of designing a PID controller whose parameters comprise proportionality constant, integral constant and derivative constant. Presence of three parameters to optimize makes the task of designing a PID controller more challenging than conventional P, PI, and PD controllers design. The suitability of the proposed approach has been demonstrated through computer simulation using MATLAB/SIMULINK.

Keywords: controller, GA, optimization, PID, PSO

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Authors: Soowon Park, Min-Ji Kim, Jun-Young Lee

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Motivation: The stigma of mental illness has been studied in many disciplines, including social psychology, counseling psychology, sociology, psychiatry, public health care, and related areas, because individuals labeled as ‘mentally ill’ are often deprived of their rights and their life opportunities. To understand the factors that deepen the stigma of mental illness, it is important to understand the influencing factors of the stigma. Problem statement: Depression is a common disorder in adults, but the incidence of help-seeking is low. Researchers have believed that this poor help-seeking behavior is related to the stigma of mental illness, which results from low mental health literacy. However, it is uncertain that increasing mental health literacy decreases mental health stigmatization. Furthermore, even though decreasing stigmatization is important, the stigma of mental illness is still a stable and long-lasting phenomenon. Thus, factors other than knowledge about mental disorders have the power to maintain the stigma. Investigating the influencing factors that facilitate the stigma of psychiatric disease could help lower the social stigmatization. Approach: Face-to-face interviews were conducted with a multi-clustering sample. A total of 700 Korean participants (38% male), ranging in age from 18 to 78 (M(SD)age= 48.5(15.7)) answered demographical questions, Korean version of Link’s Perceived Devaluation and Discrimination (PDD) scale for the assessment of social stigmatization against depression, and the Korean version of the WHO-Composite International Diagnostic Interview for the assessment of mental disorders. Multiple-regression was conducted to find the predicting factors of social stigmatization against depression. Ages, sex, years of education, income, living location, and experience of mental illness were used as the predictors. Results: Predictors accounted for 14% of the variance in the stigma of depressive disorders (F(6, 693) = 20.27, p < .001). Among those, only age, years of education, and experience of mental illness significantly predicted social stigmatization against depression. The standardized regression coefficient of age had a negative association with stigmatization (β = -.20, p < .001), but years of education (β = .20, p < .001) and experience of mental illness (β = .08, p < .05) positively predicted depression stigmatization. Conclusions: The present study clearly demonstrates the association between personal factors and depressive disorder stigmatization. Younger age, more education, and self-stigma appeared to increase the stigmatization. Young, highly educated, and mentally ill people tend to reject patients with depressive disorder as friends, teachers, or babysitters; they also tend to think that those patients have lower intelligence and abilities. These results suggest the possibility that people from a high social class, or highly educated people, who have the power to make decisions, help maintain the social stigma against mental illness patients. To increase the awareness that people from high social classes have more stigmatization against depressive disorders will help decrease the biased attitudes against mentally ill patients.

Keywords: depressive disorder stigmatization, age, education, self-stigma

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Authors: Dheyaa W. Abbood, Rafa H. AL-Suhaili, May S. Saleh

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A model using the artificial neural networks and genetic algorithm technique is developed for obtaining optimum dimensions of the foundation length and protections of small hydraulic structures. The procedure involves optimizing an objective function comprising a weighted summation of the state variables. The decision variables considered in the optimization are the upstream and downstream cutoffs length sand their angles of inclination, the foundation length, and the length of the downstream soil protection. These were obtained for a given maximum difference in head, depth of impervious layer and degree of anisotropy.The optimization carried out subjected to constraints that ensure a safe structure against the uplift pressure force and sufficient protection length at the downstream side of the structure to overcome an excessive exit gradient. The Geo-studios oft ware, was used to analyze 1200 different cases. For each case the length of protection and volume of structure required to satisfy the safety factors mentioned previously were estimated. An ANN model was developed and verified using these cases input-output sets as its data base. A MatLAB code was written to perform a genetic algorithm optimization modeling coupled with this ANN model using a formulated optimization model. A sensitivity analysis was done for selecting the cross-over probability, the mutation probability and level ,the number of population, the position of the crossover and the weights distribution for all the terms of the objective function. Results indicate that the most factor that affects the optimum solution is the number of population required. The minimum value that gives stable global optimum solution of this parameters is (30000) while other variables have little effect on the optimum solution.

Keywords: inclined cutoff, optimization, genetic algorithm, artificial neural networks, geo-studio, uplift pressure, exit gradient, factor of safety

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Authors: Jan Busch, Maurice Schmidt, Peter Nyhuis

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The change of conditions for production companies in high-wage countries is characterized by the globalization of competition and the transition of a supplier´s to a buyer´s market. The companies need to face the challenges of reacting flexibly to these changes. Due to the significant and increasing degree of automation, assembly has become the most expensive production process. Regarding the reduction of production cost, assembly consequently offers a considerable rationalizing potential. Therefore, an aerodynamic feeding system has been developed at the Institute of Production Systems and Logistics (IFA), Leibniz Universitaet Hannover. In former research activities, this system has been enabled to adjust itself using genetic algorithm. The longer the genetic algorithm is executed the better is the feeding quality. In this paper, the relation between the system´s setting time and the feeding quality is observed and a function which enables the user to achieve the minimum of the total feeding time is presented.

Keywords: aerodynamic feeding system, batch size, optimisation, setting time

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Authors: Eid Alharbi, Yaser Miaji, Saeed Alzahrani

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The importance of fruit quality and freshness is potential in today’s life. Most recent studies show and automatic online sorting system according to the internal disorder for fresh apple fruit has developed by using near infrared (NIR) spectroscopic technology. The automatic convener belts system along with sorting mechanism was constructed. To check the internal quality of the apple fruit, apple was exposed to the NIR radiations in the range 650-1300 nm and the data were collected in form of absorption spectra. The collected data were compared to the reference (data of known sample) analyzed and an electronic signal was pass to the sorting system. The sorting system was separate the apple fruit samples according to electronic signal passed to the system. It is found that absorption of NIR radiation in the range 930-950 nm was higher in the internally defected samples as compared to healthy samples. On the base of this high absorption of NIR radiation in 930-950 nm region the online sorting system was constructed.

Keywords: mechatronics design, NIR, fruit quality, spectroscopic technology

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Authors: Yushen Dai, Tao Deng, Miaoying Chen, Baoqin Huang, Yan Ji, Yongshen Feng, Shaofei Liu, Dongmei Zhong, Tao Zhang, Lifeng Zhang

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Background: Detection and diagnosis are prerequisites for early interventions in the care of children with Autism Spectrum Disorder (ASD). However, few studies have focused on this topic. Aim: This study aims to characterize the timing from symptom detection to intervention in children with ASD and to identify the potential predictors of early detection, diagnosis, and intervention. Methods and procedures: A cross-sectional survey was conducted with 314 parents of children with ASD in Guangzhou, China. Outcomes and Results: This study found that most children (76.24%) were diagnosed within one year after detection, and 25.8% of them did not receive the intervention after diagnosis. Predictors to ASD diagnosis included ASD-related symptoms identified at a younger age, more serious symptoms, and initial symptoms with abnormal development and sensory anomalies. ASD-related symptoms observed at an older age, initial symptoms with the social deficit, sensory anomalies, and without language impairment, parents as the primary caregivers, family with lower income and less social support utilization increased the odds of the time lag between detection and diagnosis. Children whose fathers had a lower level of education were less likely to receive the intervention. Conclusions and Implications: The study described the time for detection, diagnosis, and interventions of children with ASD. Findings suggest that the ASD-related symptoms, the timing at which symptoms first become a concern, primary caregivers’ roles, father’s educational level, and the family economic status should be considered when offering support to improve early detection, diagnosis, and intervention. Helping children and their families take full advantage of support is also important.

Keywords: autism spectrum disorder, child, detection, diagnosis, intervention, social support

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Authors: Saeed Dehnavi, Zahra Hadadi, Marzieh Rezabeigi, Nader Monirpoor

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This study has been performed with the goal of investigating the effectiveness of psychodrama in the reduction of social anxiety among the male adolescents in Kermanshah. 210 adolescents (13-14 year-olds) from four junior high schools in Kermanshah filled Liebowitz Social Anxiety Scale for Children and Adolescents (LSAS-CA) (Masia-Warner, Klien & Liebowitz, 2003). 30 of the adolescents who obtained the highest scores in LSAS-CA scale were chosen as the sample and were randomly assigned as experimental group (15 people) and control group (15 people). The experimental group participated in two-hour sessions of psychodrama twice a week for 6 weeks. The control group received no intervention. The findings of this study showed a significant reduction in the symptoms of social anxiety among the adolescents in experimental group in comparison to that of the control group. Also a three-month follow-up confirmed the stability of the results. Adolescents’ interactions in the psychodrama group, talking about their problems to the group, and achieving appropriate solutions by themselves are the useful factors of this intervention.

Keywords: psychodrama, social anxiety disorder, adolescents, male adolescents

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Authors: Wafa Al Jabri

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Background: In Middle Eastern Countries (MECs), there is a high prevalence of genetic blood disorders (GBDs), particularly sickle cell disease and thalassemia. The GBDs are considered a major public health concern that place a huge burden to individuals, families, communities, and health care systems. The high rates of consanguineous marriages, along with the unacceptable termination of at-risk pregnancy in MECs, reduce the possible solutions to control the high prevalence of GBDs. Since the early 1970s, most of MECs have started introducing premarital screening services (PSS) as a preventive measure to identify the asymptomatic carriers of GBDs and to provide genetic counseling to help couples plan for healthy families; yet, the success rate of PSS is very low. Purpose: This paper aims to highlight the factors that affect the success of PSS in MECs. Methods: An integrative review of articles located in CINAHL, PubMed, SCOPUS, and MedLine was carried out using the following terms: “premarital screening,” “success,” “effectiveness,” and “ genetic blood disorders”. Second, a hand search of the reference lists and Google searches were conducted to find studies that did not exist in the primary database searches. Only studies which are conducted in MECs and published after 2010 were included. Studies that were not published in English were excluded. Results: Eighteen articles were included in the review. The results showed that PSS in most of the MECs was successful in achieving its objective of identifying high-risk marriages; however, the service failed to meet its ultimate goal of reducing the prevalence of GBDs. Various factors seem to hinder the success of PSS, including poor public awareness, late timing of the screening, culture and social stigma, lack of prenatal diagnosis services and therapeutic abortion, emotional factors, religious beliefs, and lack of genetic counseling services. However, poor public awareness, late timing of the screening, religious misbeliefs, and the lack of adequate counseling services were the most common barriers identified. Conclusion and Implications: The review help in providing a framework for an effective preventive measure to reduce the prevalence of GBDs in MECS. This framework focuses primarily in overcoming the identified barriers by providing effective health education programs in collaboration with religious leaders, offering the screening test to young adults at an earlier stage, and tailoring the genetic counseling to consider people’s values, beliefs, and preferences.

Keywords: premarital screening, middle east, genetic blood disorders, factors

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Authors: Samuel Kwaku Essien, Catherine Trask, Niels Koehncke, Brenna Bath

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Background: Low back disorder (LBD) is the most common musculoskeletal problem among farmers, with higher prevalence than other occupations. Operators of tractors and other farm machinery such as combines or all-terrain vehicles (ATV) can have considerable cumulative exposure to whole body vibration (WBV). Although there appears to be an association between LBD and WBV, lack of prospective studies makes the relationship between LBD and WBV unclear. Purpose: This study investigates the association between WBV and LBD among Saskatchewan farmers using a prospective cohort study Methods: The Saskatchewan Farm Injury Cohort Study Phase I (2007) and II (2013) data were used. Baseline data were collected via postal questionnaire on accumulated yearly tractor, combine, and ATV use as well as several covariates to support a biopsychosocial model of LBD. Follow-up data on musculoskeletal symptoms were collected for the 6-year with sample size of 1149. Questions on ‘low back trouble’ (ache, pain, discomfort) experienced in the last 12 months answered by farmer participants as ‘yes’ or ‘no’. A GEE-modified Poisson approach was performed using SPSS 22 and SAS 9.4. Results: Twelve-month Prevalence of LBD was 59.8%. In multivariate analysis of the 6-year follow-up, LBD was associated with ATV operation and tractor operation, with a dose-response relationship for annual accumulated tractor operation. Although combine operation ≥ 61 hrs/year was related to LBD in bivariate analysis, this difference did not persist after adjustment for confounder. Age was found to be a confounder in relationship between WBV and LBD and no interactions were found. Conclusion: Longer annual tractor operation and older age are important predictors of LBD symptoms in farmers. Future research involving direct measurement can help identify appropriate prevention strategies.

Keywords: agriculture, low back disorder, low back pain, occupational health

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Authors: N. R. Badurally Adam, S. R. Monebhurrun, M. Z. Dauhoo, A. Khoodaruth

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Transport energy demand is vital for the economic growth of any country. Globalisation and better standard of living plays an important role in transport energy demand. Recently, transport energy demand in Mauritius has increased significantly, thus leading to an abuse of natural resources and thereby contributing to global warming. Forecasting the transport energy demand is therefore important for controlling and managing the demand. In this paper, we develop a model to predict the transport energy demand. The model developed is based on a system of five stochastic differential equations (SDEs) consisting of five endogenous variables: fuel price, population, gross domestic product (GDP), number of vehicles and transport energy demand and three exogenous parameters: crude birth rate, crude death rate and labour force. An interval of seven years is used to avoid any falsification of result since Mauritius is a developing country. Data available for Mauritius from year 2003 up to 2009 are used to obtain the values of design variables by applying genetic algorithm. The model is verified and validated for 2010 to 2012 by substituting the values of coefficients obtained by GA in the model and using particle swarm optimisation (PSO) to predict the values of the exogenous parameters. This model will help to control the transport energy demand in Mauritius which will in turn foster Mauritius towards a pollution-free country and decrease our dependence on fossil fuels.

Keywords: genetic algorithm, modeling, particle swarm optimization, stochastic differential equations, transport energy demand

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