Search results for: gene family
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 4414

Search results for: gene family

3304 A Study of Language Choice and Use among Young Thai in Malaysia

Authors: Din Eak Arathai

Abstract:

The purpose of this research report is to investigate the language choice and use among the young generation of Malaysian Thais community. Besides that, it aims to investigate if there is a difference in language choice across the different domains. It will also examine if there has been a language shift from Thai to other languages by the young generation of Thai community in Malaysia. First the study focuses on the proficiency of Thai and other languages used by hundred (100) respondents belonging to young generation of Malaysian Thais aged range from 18-35. Next, language use and choice will be presented with a focus on the domains of family, friendship, entertainment and social. Finally, based on the findings and data collected, we will be able to see if language shift from Thai to other languages has occurred among the young Thai generation in Malaysia. The instrument used in this study was a 30-item questionnaire and the findings of the data analysis were presented in the form of frequency counts and percentages. The findings found that Thai language remains the most preferred language of choice among young Malaysian Thais but usage of other languages, such as Malay, English and Mandarin has increased and begun to influence the language choice of young Malaysian Thais and their proficiency of their mother tongue.In all the domains studied, Thai is almost exclusively the preferred language used when communicating with family. Malay is the most preferred language in communicating with friends while English is the most preferred language when communicating with colleagues. With regards to social and entertainment activities, young Malaysian Thais show great affinity for entertainment in the Thai language. In conclusion, the result of the study showed the beginning of young Malaysian Thais shifting to other languages, especially English and Malay through their daily choices when communicating with friends and family and especially through their language preferences in entertainment.

Keywords: language choice, language use, language shift, language maintenance, young Malaysian Thais, code switching, code mixing

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3303 Polypeptide Modified Carbon Nanotubes – Mediated GFP Gene Transfection for H1299 Cells and Toxicity Assessment

Authors: Pei-Ying Lo, Jing-Hao Ciou, Kai-Cheng Yang, Jia-Huei Zheng, Shih-Hsiang Huang, Kuen-Chan Lee, Er-Chieh Cho

Abstract:

As-produced CNTs are insoluble in all organic solvents and aqueous solutions have imposed limitations to the use of CNTs. Therefore, how to debundle carbon nanotubes and to modify them for further uses is an important issue. There are several methods for the dispersion of CNTs in water using covalent attachment of hydrophilic groups to the surface of tubes. These methods, however, alter the electronic structure of the nanotubes by disrupting the network of sp2 hybridized carbons. In order to keep the nanotubes’ intrinsic mechanical and electrical properties intact, non-covalent interactions are increasingly being explored as an alternative route for dispersion. Apart from conventional surfactants such as sodium dodecylsulfate (SDS) or sodium dodecylbenzenesulfonate (SDBS) which are highly effective in dispersing CNTs, biopolymers have received much attention as dispersing agents due to the anticipated biocompatibility of the dispersed CNTs. Also, The pyrenyl group is known to interact strongly with the basal plane of graphene via π-stacking. In this study, a highly re-dispersible biopolymer is reported for the synthesis of pyrene-modified poly-L-lysine (PBPL) and poly(D-Glu, D-Lys) (PGLP). To provide the evidence of the safety of the PBPL/CNT & PGLP/CNT materials we use in this study, H1299 and HCT116 cells were incubated with PBPL/CNT & PGLP/CNT materials for toxicity analysis, MTS assays. The results from MTS assays indicated that no significant cellular toxicity was shown in H1299 and HCT116 cells. Furthermore, the fluorescence marker fluorescein isothiocyanate (FITC) was added to PBPL & PGLP dispersions. From the fluorescent measurements showed that the chemical functionalisation of the PBPL/CNT & PGLP/CNT conjugates with the fluorescence marker were successful. The fluorescent PBPL/CNT & PGLP/CNT conjugates could find application in medical imaging. In the next step, the GFP gene is immobilized onto PBPL/CNT conjugates by introducing electrostatic interaction. GFP-transfected cells that emitted fluorescence were imaged and counted under a fluorescence microscope. Due to the unique biocompatibility of PBPL modified CNTs, the GFP gene could be transported into H1299 cells without using antibodies. The applicability of such soluble and chemically functionalised polypeptide/CNT conjugates in biomedicine is currently investigated. We expect that this polypeptide/CNT system will be a safe and multi-functional nanomedical delivery platform and contribute to future medical therapy.

Keywords: carbon nanotube, nanotoxicology, GFP transfection, polypeptide/CNT hybrids

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3302 Genetic Analysis of CYP11A1 Gene with Polycystic Ovary Syndrome from North India

Authors: Ratneev Kaur, Tajinder Kaur, Anupam Kaur

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Introduction: Polycystic Ovary Syndrome (PCOS) is a heterogenous disorder of endocrine system among women of reproductive age. PCOS is characterized by hyperandrogenism, anovulation, polycystic ovaries, hirsutism, obesity, and hyperinsulinemia. Several pathways are implicated in its etiology including the metabolic pathway of steroid hormone synthesis regulatory pathways. PCOS is an androgen excess disorder, genes operating in steroidogenesis may alter pathogenesis of PCOS. The cytochrome P450scc is a cholesterol side chain cleavage enzyme coded by CYP11A1 gene and catalyzes conversion of cholesterol to pregnenolone, the initial and rate-limiting step in steroid hormone synthesis. It is postulated that polymorphisms in this gene may play an important role in the regulation of CYP11A1 expression and leading to increased or decreased androgen production. The present study will be the first study from north India to best of our knowledge, to analyse the association of CYP11A1 (rs11632698) polymorphism in women suffering from PCOS. Methodology: The present study was approved by ethical committee of Guru Nanak Dev University in consistent with declaration of Helsinki. A total of 300 samples (150 PCOS cases and 150 controls) were recruited from Hartej hospital, for the present study. Venous blood sample (3ml) was withdrawn from women diagnosed with PCOS by doctor, according to Rotterdam 2003 criteria and from healthy age matched controls only after informed consent and detailed filled proforma. For molecular genetics analysis, blood was stored in EDTA vials. After DNA isolation by organic method, PCR-RFLP approach was used for genotyping and association analysis of rs11632698 polymorphism. Statistical analysis was done to check for significance of selected polymorphism with PCOS. Results: In 150 PCOS cases, the frequency of AA, AG and GG genotype was found to be 48%, 35%, and 13% compared to 62%, 27% and 8% in 150 controls. The major allele (A) and minor allele (G) frequency was 68% and 32% in cases and 78% and 22% in controls. Minor allele frequency was higher in cases as compared to controls, as well as the distribution of genotype was observed to be statistically significant (ᵡ²=6.525, p=0.038). Odds ratio in dominant, co-dominant and recessive models observed was 1.81 (p=0.013), 1.54 (p=0.012) and 1.77 (p=0.132) respectively. Conclusion: The present study showed statistically significant association of rs11632698 with PCOS (p=0.038) in North Indian women.

Keywords: polycystic ovary syndrome, CYP11A1, rs11632698, hyperandrogenism

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3301 Mechanical Properties of Young and Senescence Fibroblast Cells Using Passive Microrheology

Authors: Samira Khalaji, , Fenneke Klein Jan, Kay-E. Gottschalk, Eugenia Makrantonaki, Karin Scharffetter-Kochanek

Abstract:

Biological aging is a multi-dimensional process that takes place over a whole range of scales from the nanoscopic alterations within individual cells, over transformations in tissues and organs and to changes of the whole organism. On the single cell level, aging involves mutation of genes, differences in gene expression levels as well as altered posttranslational modifications of proteins. A variety of proteins is affected, including proteins of the cell cytoskeleton and migration machinery. Previous work quantified the expression of cytoskeleton proteins on the gene and protein levels in senescent and young fibroblasts. Their results show that senescent skin fibroblasts have an upregulated expression of the intermediate filament (IF) protein vimentin in contrast to actin and tubulin, which are downregulated. IFs play an important role in providing mechanical stability of cells. However, the mechanical properties of IFs depending on cellular senescence or age of the donor has not been studied so far. Hence, we employed passive microrheology on primary human dermal fibroblasts from female donors with age of 28 years (young) and 86 years (old) as model of in vivo aging and human normal dermal fibroblast from 11-year old male with CPD 17-35 (young) and CPD 58-59 (senescence) as a model of in vitro replicative senescence. In contrast to the expectations, our primary results show no significant differences in the viscoelastic properties of fibroblasts depending on age of the donor or cellular replicative senescence.

Keywords: aging, cytoskeleton, fibroblast, mechanical properties

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3300 An Investigation of the Influence of Education Backgrounds on Mathematics Achievements: An Example of Chinese High School

Authors: Wang Jiankun

Abstract:

This paper analyses how different educational backgrounds affect the mathematics performance of middle and high school students in terms of three dimensions: parental involvement, school teaching ability, and demographic variables and personal attributes of the student. Based on the analysis of Beijing High School Mathematics Competition in 2022, it was found that students from high level schools won significantly more awards than those from low level schools. In addition, a significant positive correlation (p<0.05) was identified between school level and students' mathematics performance. This study also confirms that parents' education level and family environment show a significant impact on the next generation’s mathematics learning performance. The findings suggest that interest and student’s habits, the family environment and the quality of teaching and learning at school are the main factors affecting the mathematics performance of middle and high school students.

Keywords: educational background, academic performance, middle and high school education, teenager

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3299 MAGE-A3 and PRAME Gene Expression and EGFR Mutation Status in Non-Small-Cell Lung Cancer

Authors: Renata Checiches, Thierry Coche, Nicolas F. Delahaye, Albert Linder, Fernando Ulloa Montoya, Olivier Gruselle, Karen Langfeld, An de Creus, Bart Spiessens, Vincent G. Brichard, Jamila Louahed, Frédéric F. Lehmann

Abstract:

Background: The RNA-expression levels of cancer-testis antigens MAGE A3 and PRAME were determined in resected tissue from patients with primary non-small-cell lung cancer (NSCLC) and related to clinical outcome. EGFR, KRAS and BRAF mutation status was determined in a subset to investigate associations with MAGE A3 and PRAME expression. Methods: We conducted a single-centre, uncontrolled, retrospective study of 1260 tissue-bank samples from stage IA-III resected NSCLC. The prognostic value of antigen expression (qRT-PCR) was determined by hazard-ratio and Kaplan-Meier curves. Results: Thirty-seven percent (314/844) of tumours expressed MAGE-A3, 66% (723/1092) expressed PRAME and 31% (239/839) expressed both. Respective frequencies in squamous-cell tumours and adenocarcinomas were 43%/30% for MAGE A3 and 80%/44% for PRAME. No correlation with stage, tumour size or patient age was found. Overall, no prognostic value was identified for either antigen. A trend to poorer overall survival was associated with MAGE-A3 in stage IIIB and with PRAME in stage IB. EGFR and KRAS mutations were found in 10.1% (28/311) and 33.8% (97/311) of tumours, respectively. EGFR (but not KRAS) mutation status was negatively associated with PRAME expression. Conclusion: No clear prognostic value for either PRAME or MAGE A3 was observed in the overall population, although some observed trends may warrant further investigation.

Keywords: MAGE A3, PRAME, cancer-testis gene, NSCLC, survival, EGFR

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3298 Tissue-Specific Distribution of Cytochrome P450 1A1 and 3A in Rainbow Trout (Oncorhynchus mykiss)

Authors: Viktoriia Burkina, Vladimir Zlabek, Galia Zamaratskaia

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Cytochromes P450 (CYP) are important family of enzymes in Phase I metabolism. Environmental pollutants often act as inducers of the gene expression and activities CYP1A1 and CYP3A-like isoforms in fish. The activities are generally measured in the fish liver or gills, and less is known about tissue distribution of expression. In present study, the CYP1A1 and CYP3A-like activities were measured in rainbow trout liver, gill, intestine, heart, brain and gonads. The activities of CYP1A1 and CYP3A-like proteins were estimated as the rates of 7-ethoxyresorufin-O-deethylation (EROD) and benzyloxy-4-trifluoromethylcoumarin-O-debenzyloxylation (BFCOD), respectively. The CYP1A1 and CYP3A-like activities were detectable in all investigated fish tissues, with the highest activity in hepatic tissue followed by heart > brain > gill > intestine > gonads. To confirm the presence of CYP1A1 in different tissues, EROD activity was measured in presence of the selective inhibitors ellipticine (CYP1A1), ketoconazole (CYP3A), 8-methoxypsoralen (human CYP2A) and diallyl sulphide (CYP2E1). It was found that ellipticine, ketoconazole and 8-methoxypsoralen inhibited hepatic EROD activity by 88-98%. Ellipticine inhibited gill, intestine, and gonad EROD activity by 50%. In conclusion, EROD and BFCOD activities were detected in rainbow trout liver, gill, intestine, heart, brain and gonads. Further studies are needed to fully identify all CYP450 isoforms responsible for these activities. Acknowledgement: The study was financially supported by the Ministry of Education, Youth and Sports of the Czech Republic - projects „CENAKVA “(No. CZ.1.05/2.1.00/01.0024), “CENAKVA Center Development “(No. CZ.1.05/2.1.00/19.0380), “CENAKVA II “(No. LO1205 under the NPU I program), and "Development of USB - International mobility (No. CZ.02.2.69/0.0/0.0/16_027/0008364).

Keywords: BFCOD, EROD, fish, phase I metabolism, selective inhibitors

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3297 A Computational Investigation of Potential Drugs for Cholesterol Regulation to Treat Alzheimer’s Disease

Authors: Marina Passero, Tianhua Zhai, Zuyi (Jacky) Huang

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Alzheimer’s disease has become a major public health issue, as indicated by the increasing populations of Americans living with Alzheimer’s disease. After decades of extensive research in Alzheimer’s disease, only seven drugs have been approved by Food and Drug Administration (FDA) to treat Alzheimer’s disease. Five of these drugs were designed to treat the dementia symptoms, and only two drugs (i.e., Aducanumab and Lecanemab) target the progression of Alzheimer’s disease, especially the accumulation of amyloid-b plaques. However, controversial comments were raised for the accelerated approvals of either Aducanumab or Lecanemab, especially with concerns on safety and side effects of these two drugs. There is still an urgent need for further drug discovery to target the biological processes involved in the progression of Alzheimer’s disease. Excessive cholesterol has been found to accumulate in the brain of those with Alzheimer’s disease. Cholesterol can be synthesized in both the blood and the brain, but the majority of biosynthesis in the adult brain takes place in astrocytes and is then transported to the neurons via ApoE. The blood brain barrier separates cholesterol metabolism in the brain from the rest of the body. Various proteins contribute to the metabolism of cholesterol in the brain, which offer potential targets for Alzheimer’s treatment. In the astrocytes, SREBP cleavage-activating protein (SCAP) binds to Sterol Regulatory Element-binding Protein 2 (SREBP2) in order to transport the complex from the endoplasmic reticulum to the Golgi apparatus. Cholesterol is secreted out of the astrocytes by ATP-Binding Cassette A1 (ABCA1) transporter. Lipoprotein receptors such as triggering receptor expressed on myeloid cells 2 (TREM2) internalize cholesterol into the microglia, while lipoprotein receptors such as Low-density lipoprotein receptor-related protein 1 (LRP1) internalize cholesterol into the neuron. Cytochrome P450 Family 46 Subfamily A Member 1 (CYP46A1) converts excess cholesterol to 24S-hydroxycholesterol (24S-OHC). Cholesterol has been approved for its direct effect on the production of amyloid-beta and tau proteins. The addition of cholesterol to the brain promotes the activity of beta-site amyloid precursor protein cleaving enzyme 1 (BACE1), secretase, and amyloid precursor protein (APP), which all aid in amyloid-beta production. The reduction of cholesterol esters in the brain have been found to reduce phosphorylated tau levels in mice. In this work, a computational pipeline was developed to identify the protein targets involved in cholesterol regulation in brain and further to identify chemical compounds as the inhibitors of a selected protein target. Since extensive evidence shows the strong correlation between brain cholesterol regulation and Alzheimer’s disease, a detailed literature review on genes or pathways related to the brain cholesterol synthesis and regulation was first conducted in this work. An interaction network was then built for those genes so that the top gene targets were identified. The involvement of these genes in Alzheimer’s disease progression was discussed, which was followed by the investigation of existing clinical trials for those targets. A ligand-protein docking program was finally developed to screen 1.5 million chemical compounds for the selected protein target. A machine learning program was developed to evaluate and predict the binding interaction between chemical compounds and the protein target. The results from this work pave the way for further drug discovery to regulate brain cholesterol to combat Alzheimer’s disease.

Keywords: Alzheimer’s disease, drug discovery, ligand-protein docking, gene-network analysis, cholesterol regulation

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3296 MAFB Expression in LPS-Induced Exosomes: Revealing the Connection to sepsis-trigerred Hepatic Injury

Authors: Gizaw Mamo Gebeyehu, Marianna Pap, Geza Makkai, Tibor Z. Janosi, Shima Rashidian, Tibor A. Rauch

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Sepsis poses a significant global health threat, necessitating extensive exploration of indicators tied to its pathological mechanisms and multi-organ dysfunction. While murine studies have shed light on sepsis, the intricate cellular and molecular landscape in human sepsis remains enigmatic. Exploring the influence of activated monocyte-derived exosomes in sepsis sheds light on a promising pathway for understanding the intricate cellular and molecular mechanisms involved in this condition in humans. In sepsis, exosome-borne mRNA and miRNA orchestrate immune response gene expression in recipient cells. Yet, the specifics of exosome-mediated cell-to-cell communication, especially how mRNA cargoes modulate gene expression in recipient cells, remain poorly understood. This study aims to elucidate the precise molecular pathways through which exosomal mRNA cargo, particularly MAFB, contributes to the developing sepsis-induced molecular aberrations in liver tissues, employing rigorously defined cell culture conditions. THP-1 cells were treated with LPS to induce changes in exosomal RNA profiles. Exosomes were isolated and characterized using microscopy and mass spectrometry. RNA was extracted from exosomes and sequenced. The most abundant exosomal mRNAs were subjected to GO analysis for functional annotation analysis and KEGG database analysis to identify the involved enriched pathways. PCR (Polymerase Chain Reaction), RNA sequencing, and Western blotting were involved to analyze changes in gene expression, protein levels, and signaling pathways within the liver cells( HepG2) after exposure to exosomal MAFB. This study pinpoints exosomal MAFB as a potential key regulator linked to liver cell damage during sepsis, along with associated genes (miR155HG, H3F3A, and possibly JARD2) forming a crucial molecular pathway contributing to liver cell injury, Together, these elements indicate a vital molecular pathway that plays a significant role in the emergence of liver cell injury during sepsis.. These findings suggest the importance of further research on these components for potential therapeutic interventions in managing acute liver damage in sepsis.

Keywords: sepsis, exososome, exosomal MAFB, LPS-induced THP-1 cells, RNA profiles, sepsis-triggered liver injury

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3295 The Relationship between Fight-Flight-Freeze System, Level of Expressed Emotion in Family, and Emotion Regulation Difficulties of University Students: Comparison Experienced to Inexperienced Non-Suicidal Self-Injury Students (NSSI)

Authors: Hyojung Shin, Munhee Kweon

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Non-suicide Self Injuri (NSSI) can be defined as the act of an individual who does not intend to die directly and intentionally damaging his or her body tissues. According to a study conducted by the Korean Ministry of Education in 2018, the NSSI is widely spreading among teenagers, with 7.9 percent of all middle school students and 6.4 percent of high school students reporting experience in NSSI. As such, it is understood that the first time of the NSSI is in adolescence. However, the NSSI may not start and stop at a certain time, but may last longer. However, despite the widespread prevalence of NSSI among teenagers, little is known about the process and maintenance of NSSI college students on a continuous development basis. Korea's NSSI research trends are mainly focused on individual internal vulnerabilities (high levels of painful emotions/awareness, lack of pain tolerance) and interpersonal vulnerabilities (poor communication skills and social problem solving), and little studies have been done on individuals' unique characteristics and environmental factors such as substrate or environmental vulnerability factors. In particular, environmental factors are associated with the occurrence of NSSI by acting as a vulnerability factor that can interfere with the emotional control of individuals, whereas individual factors play a more direct role by contributing to the maintenance of NSSI, so it is more important to consider this for personal environmental involvement in NSSI. This study focused on the Fight-Flight-Freeze System as a factor in the defensive avoidance system of Reward Sensitivity in individual factors. Also, Environmental factors include the level of expressed emotion in family. Wedig and Nock (2007) said that if parents with a self-critical cognitive style take the form of criticizing their children, the experience of NSSI increases. The high level of parental criticism is related to the increasing frequency of NSSI acts as well as to serious levels of NSSI. If the normal coping mechanism fails to control emotions, people want to overcome emotional difficulties even through NSSI, and emotional disturbances experienced by individuals within an unsupported social relationship increase vulnerability to NSSI. Based on these theories, this study is to find ways to prevent NSSI and intervene in counseling effectively by verifying the differences between the characteristics experienced NSSI persons and non-experienced NSSI persons. Therefore, the purpose of this research was to examine the relationship of Fight-Flight-Freeze System (FFFS), level of expressed emotion in family and emotion regulation difficulties, comparing those who experienced Non-Suicidal Self-Injury (NSSI) with those who did not experienced Non-Suicidal Self-Injury (NSSI). The data were collected from university students in Seoul Korea and Gyeonggi-do province. 99 subjects were experienced student of NSSI, while 375 were non- experienced student of NSSI. The results of this study are as follows. First, the result of t-test indicated that NSSI attempters showed a significant difference in fight-flight-freeze system, level of expressed emotion and emotion regulation difficulties, compared with non-attempters. Second, fight-flight-freeze system, level of expressed emotion in family and emotion regulation difficulties of NSSI attempters showed a significant difference in correlation. The correlation was significant only freeze system of fight-flight-freeze system, Level of expressed emotion in family and emotion regulation difficulties. Third, freeze system and level of expressed emotion in family predicted emotion regulation difficulties of NSSI attempters. Fight-freeze system and level of expressed emotion in family predicted emotion regulation difficulties of non-NSSI attempters. Lastly, Practical implications for counselors and limitations of this study are discussed.

Keywords: fight-flight-freeze system, level of expressed emotion in family, emotion regulation difficulty, non-suicidal self injury

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3294 Iran’s Sexual and Reproductive Rights Roll-Back: An Overview of Iran’s New Population Policies

Authors: Raha Bahreini

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This paper discusses the roll-back of women’s sexual and reproductive rights in the Islamic Republic of Iran, which has come in the wake of a striking shift in the country’s official population policies. Since the late 1980s, Iran has won worldwide praise for its sexual and reproductive health and services, which have contributed to a steady decline in the country’s fertility rate–from 7.0 births per women in 1980 to 5.5 in 1988, 2.8 in 1996 and 1.85 in 2014. This is owed to a significant increase in the voluntary use of modern contraception in both rural and urban areas. In 1976, only 37 per cent of women were using at least one method of contraception; by 2014 this figure had reportedly risen to a high of nearly 79 per cent for married girls and women living in urban areas and 73.78 per cent for those living in rural areas. Such progress may soon be halted. In July 2012, Iran’s Supreme Leader Ayatollah Sayed Ali Khamenei denounced Iran’s family planning policies as an imitation of Western lifestyle. He exhorted the authorities to increase Iran’s population to 150 to 200 million (from around 78.5 million), including by cutting subsidies for contraceptive methods and dismantling the state’s Family and Population Planning Programme. Shortly thereafter, Iran’s Minister of Health and Medical Education announced the scrapping of the budget for the state-funded Family and Population Planning Programme. Iran’s Parliament subsequently introduced two bills; the Comprehensive Population and Exaltation of Family Bill (Bill 315), and the Bill to Increase Fertility Rates and Prevent Population Decline (Bill 446). Bill 446 outlaws voluntary tubectomies, which are believed to be the second most common method of modern contraception in Iran, and blocks access to information about contraception, denying women the opportunity to make informed decisions about the number and spacing of their children. Coupled with the elimination of state funding for Iran’s Family and Population Programme, the move would undoubtedly result in greater numbers of unwanted pregnancies, forcing more women to seek illegal and unsafe abortions. Bill 315 proposes various discriminatory measures in the areas of employment, divorce, and protection from domestic violence in order to promote a culture wherein wifedom and child-bearing is seen as women’s primary duty. The Bill, for example, instructs private and public entities to prioritize, in sequence, men with children, married men without children and married women with children when hiring for certain jobs. It also bans the recruitment of single individuals as family law lawyers, public and private school teachers and members of the academic boards of universities and higher education institutes. The paper discusses the consequences of these initiatives which would, if continued, set the human rights of women and girls in Iran back by decades, leaving them with a future shaped by increased inequality, discrimination, poor health, limited choices and restricted freedoms, in breach of Iran’s international human rights obligations.

Keywords: family planning and reproductive health, gender equality and empowerment of women, human rights, population growth

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3293 Prenatal Use of Serotonin Reuptake Inhibitors (SRIs) and Congenital Heart Anomalies (CHA): An Exploratory Pharmacogenetics Study

Authors: Aizati N. A. Daud, Jorieke E. H. Bergman, Wilhelmina S. Kerstjens-Frederikse, Pieter Van Der Vlies, Eelko Hak, Rolf M. F. Berger, Henk Groen, Bob Wilffert

Abstract:

Prenatal use of SRIs was previously associated with Congenital Heart Anomalies (CHA). The aim of the study is to explore whether pharmacogenetics plays a role in this teratogenicity using a gene-environment interaction study. A total of 33 case-mother dyads and 2 mother-only (children deceased) registered in EUROCAT Northern Netherlands were included in a case-only study. Five case-mother dyads and two mothers-only were exposed to SRIs (paroxetine=3, fluoxetine=2, venlafaxine=1, paroxetine and venlafaxine=1) in the first trimester of pregnancy. The remaining 28 case-mother dyads were not exposed to SRIs. Ten genes that encode the enzymes or proteins important in determining fetal exposure to SRIs or its mechanism of action were selected: CYPs (CYP1A2, CYP2C9, CYP2C19, CYP2D6), ABCB1 (placental P-glycoprotein), SLC6A4 (serotonin transporter) and serotonin receptor genes (HTR1A, HTR1B, HTR2A, and HTR3B). All included subjects were genotyped for 58 genetic variations in these ten genes. Logistic regression analyses were performed to determine the interaction odds ratio (OR) between genetic variations and SRIs exposure on the risk of CHA. Due to low phenotype frequencies of CYP450 poor metabolizers among exposed cases, the OR cannot be calculated. For ABCB1, there was no indication of changes in the risk of CHA with any of the ABCB1 SNPs in the children and their mothers. Several genetic variations of the serotonin transporter and receptors (SLC6A4 5-HTTLPR and 5-HTTVNTR, HTR1A rs1364043, HTR1B rs6296 & rs6298, HTR3B rs1176744) were associated with an increased risk of CHA, but with too limited sample size to reach statistical significance. For SLC6A4 genetic variations, the mean genetic scores of the exposed case-mothers tended to be higher than the unexposed mothers (2.5 ± 0.8 and 1.88 ± 0.7, respectively; p=0.061). For SNPs of the serotonin receptors, the mean genetic score for exposed cases (children) tended to be higher than the unexposed cases (3.4 ± 2.2, and 1.9 ± 1.6, respectively; p=0.065). This study might be among the first to explore the potential gene-environment interaction between pharmacogenetic determinants and SRIs use on the risk of CHA. With small sample sizes, it was not possible to find a significant interaction. However, there were indications for a role of serotonin receptor polymorphisms in fetuses exposed to SRIs on fetal risk of CHA which warrants further investigation.

Keywords: gene-environment interaction, heart defects, pharmacogenetics, serotonin reuptake inhibitors, teratogenicity

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3292 Ethnobotanical Study of Medicinal Plants of Leguminosae in Kantharalak Community Forest, Si Sa Ket Province, Thailand

Authors: W. Promprom, W. Chatan

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Leguminosae is a large plant family and its members are important for local people utilization in the Northeast of Thailand. This research aimed to survey medicinal plants in this family in Kantharalak Community forest. The plant collection and exploration were made from October 2017 to September 2018. Folk medicinal uses were studied by interviewing villagers and folk medicine healers living around the community forest by asking about local names, using parts, preparation and properties. The results showed that 65 species belonging to 40 genera were found. Among these, 30 species were medicinal plant. The most used plant parts were leaf. Decoction and drinking were mostly preparation method and administration mode used. All medicinal plants could be categorized into 17 diseases/symptoms. Most plant (56.66%) were used for fever. The voucher specimens were deposited in Department of Biology, Faculty of Science, Mahasarakham University, Thailand. Therefore, the data from this study might be widely used by the local area and further scientific study.

Keywords: ethnobotany, ethnophamacology, medicinal plant, taxonomy, utilization

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3291 Imaging Spectrum of Central Nervous System Tuberculosis on Magnetic Resonance Imaging: Correlation with Clinical and Microbiological Results

Authors: Vasundhara Arora, Anupam Jhobta, Suresh Thakur, Sanjiv Sharma

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Aims and Objectives: Intracranial tuberculosis (TB) is one of the most devastating manifestations of TB and a challenging public health issue of considerable importance and magnitude world over. This study elaborates on the imaging spectrum of neurotuberculosis on magnetic resonance imaging (MRI) in 29 clinically suspected cases from a tertiary care hospital. Materials and Methods: The prospective hospital based evaluation of MR imaging features of neuro-tuberculosis in 29 clinically suspected cases was carried out in Department of Radio-diagnosis, Indira Gandhi Medical Hospital from July 2017 to August 2018. MR Images were obtained on a 1.5 T Magnetom Avanto machine and were analyzed to identify any abnormal meningeal enhancement or parenchymal lesions. Microbiological and Biochemical CSF analysis was performed in radio-logically suspected cases and the results were compared with the imaging data. Clinical follow up of the patients started on anti-tuberculous treatment was done to evaluate the response to treatment and clinical outcome. Results: Age range of patients in the study was between 1 year to 73 years. The mean age of presentation was 11.5 years. No significant difference in the distribution of cerebral tuberculosis was noted among the two genders. Imaging findings of neuro-tuberculosis obtained were varied and non specific ranging from lepto-meningeal enhancement, cerebritis to space occupying lesions such as tuberculomas and tubercular abscesses. Complications presenting as hydrocephalus (n= 7) and infarcts (n=9) was noted in few of these patients. 29 patients showed radiological suspicion of CNS tuberculosis with meningitis alone observed in 11 cases, tuberculomas alone were observed in 4 cases, meningitis with parenchymal tuberculomas in 11 cases. Tubercular abscess and cerebritis were observed in one case each. Tuberculous arachnoiditis was noted in one patient. Gene expert positivity was obtained in 11 out of 29 radiologically suspected patients; none of the patients showed culture positivity. Meningeal form of the disease alone showed higher positivity rate of gene Xpert (n=5) followed by combination of meningeal and parenchymal forms of disease (n=4). The parenchymal manifestation of disease alone showed least positivity rates (n= 3) with gene xpert testing. All 29 patients were started on anti tubercular treatment based on radiological suspicion of the disease with clinical improvement observed in 27 treated patients. Conclusions: In our study, higher incidence of neuro- tuberculosis was noted in paediatric population with predominance of the meningeal form of the disease. Gene Xpert positivity obtained was low due to paucibacillary nature of cerebrospinal fluid (CSF) with even lower positivity of CSF samples in parenchymal form of the manifestation. MRI showed high accuracy in detecting CNS lesions in neuro-tuberculosis. Hence, it can be concluded that MRI plays a crucial role in the diagnosis because of its inherent sensitivity and specificity and is an indispensible imaging modality. It caters to the need of early diagnosis owing to poor sensitivity of microbiological tests more so in the parenchymal manifestation of the disease.

Keywords: neurotuberculosis, tubercular abscess, tuberculoma, tuberculous meningitis

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3290 Network Pharmacological Evaluation of Holy Basil Bioactive Phytochemicals for Identifying Novel Potential Inhibitors Against Neurodegenerative Disorder

Authors: Bhuvanesh Baniya

Abstract:

Alzheimer disease is illnesses that are responsible for neuronal cell death and resulting in lifelong cognitive problems. Due to their unclear mechanism, there are no effective drugs available for the treatment. For a long time, herbal drugs have been used as a role model in the field of the drug discovery process. Holy basil in the Indian medicinal system (Ayurveda) is used for several neuronal disorders like insomnia and memory loss for decades. This study aims to identify active components of holy basil as potential inhibitors for the treatment of Alzheimer disease. To fulfill this objective, the Network pharmacology approach, gene ontology, pharmacokinetics analysis, molecular docking, and molecular dynamics simulation (MDS) studies were performed. A total of 7 active components in holy basil, 12 predicted neurodegenerative targets of holy basil, and 8063 Alzheimer-related targets were identified from different databases. The network analysis showed that the top ten targets APP, EGFR, MAPK1, ESR1, HSPA4, PRKCD, MAPK3, ABL1, JUN, and GSK3B were found as significant target related to Alzheimer disease. On the basis of gene ontology and topology analysis results, APP was found as a significant target related to Alzheimer’s disease pathways. Further, the molecular docking results to found that various compounds showed the best binding affinities. Further, MDS top results suggested could be used as potential inhibitors against APP protein and could be useful for the treatment of Alzheimer’s disease.

Keywords: holy basil, network pharmacology, neurodegeneration, active phytochemicals, molecular docking and simulation

Procedia PDF Downloads 88
3289 Marketing Planning Strategy to Promote Family Agro-Tourism: A Case Study of Bang Nam Phueng Community Prapradeang District, Samutprakarn Province

Authors: Sasitorn Chetanont, Benjaporn Yamjameung

Abstract:

The objectives of this study are to increase tourism products and to develop family agro-tourism. The research methodology was to analyze internal and external situations according to MP-MF and the MC-STEPS principles. The results of this study highlight following necessary improvements; extend the cycling routes, increase the number of bicycle rental shops, offer a recreation place for the elders, organize a space for the floating market products and increase tourism activities throughout the year. In ‘places or distribution channel’ we discuss the improvement of facilities, specifically the routes to facilitate elder visitors and visitors on wheelchairs and furthermore the arrangement of educational trips to relevant centers in the community. In ‘promotions’, we discuss the implementation of an 'all inclusive package' were the agro-tourism program, health-conscious program and the elderly fun program converge.

Keywords: marketing planning strategy, agro-tourism, promotions, Bang Nam Phueng

Procedia PDF Downloads 298
3288 Modulation of Alternative Respiration Pathyway under Salt Stress in Exogenous Estrogen-Treated Maize Seedlings

Authors: Farideh K. Khosroushahi, Serkan Erdal, Mucip Geni̇şel

Abstract:

Soil salinity is one of the major abiotic stress factors that restricts arable land and reduces crop productivity worldwide. High salt concentration adversely affects plant growth and development inducing water deficit, ionic toxicity, nutrient imbalance, and lead to oxidative stress. Although the stimulating role of mammalian sex hormones on various biological and biochemical processes under normal and stress condition have been proven, there is no study regarding with these hormone's effect on modulation of the alternative respiration pathway and AOX gene expression. In this study, changes in alternative respiration pathway in leaves of maize seedlings under salinity and the possible modulating effect of estrogen on these changes were investigated. Maize seedlings were grown in a hydroponic media for 11 days and then were exposed to salt stress for 3 days after being sprayed estrogen. The data obtained from oxygen consumption revealed that salt stress elevated cellular respiration value in the leaves. In addition, a marked increase was observed at alternative respiration level in salt-stressed seedlings. Compared to salt application alone, supplementation with estrogen resulted in a significant rise in alternative oxidase (AOX) activities. Similarly, while salt stress caused to rise in expressions of AOX gene compared to control seedlings, estrogen application resulted in further activation of these genes’ expression compared to stressed-seedlings alone. These data revealed that mitigating role of estrogen against the detrimental effects of salt stress is linked to modulation of alternative respiration pathway.

Keywords: alternative oxidase, estrogen, Ssalt stress, AOX, maize

Procedia PDF Downloads 197
3287 Factors That Affect the Mental Health Status of Syrian Refugee Girls in Post-Resettlement Context

Authors: Vivian Khamis

Abstract:

Exposure to war and forced migration have been widely linked to child subsequent adaptation. What remains sparse is research spanning multiple risk and protective factors and examining their unique and relative implications to difficulties in mental health among refugee girls. This study investigated the mechanisms through which posttraumatic stress disorder (PTSD), emotion dysregulation , neuroticism, and behavioral and emotional disorders in Syrian refugee girls is impacted by exposure to war traumas, age, and other risk and protective factors such as coping styles, family relationships, and school environment. The sample consisted of 539 Syrian refugee girls who ranged in age from 7 to 18 years attending public schools in various governorates in Lebanon and Jordan. Two school counselors carried out the interviews with children at school. Results indicated that war trauma, older age, and a combination of negative copying style associated with conflict in the family could lead to an overall state of emotion dysregulation, neuroticism, behavioral and emotional disorders, and PTSD in refugee girls. On the other hand, lapse of time since resettlement in host country, positive copying style, cohesion, and expressiveness in the family would lead to more positive mental health status, including lower levels of emotion dysregulation, neuroticism, behavioral and emotional disorders, and PTSD . Enhanced understanding of the mechanistic role of risk and protective factors in contributing to difficulties in mental health in refugee girls may contribute to the development of effective interventions to target the psychological effects of the refugee experience.

Keywords: refugee girls, PTSD, emotion dysregulation, neuroticism, behavioral and emotional disorders

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3286 Existing Cardiovascular Risk among Children Diagnosed with Type 1 Diabetes Mellitus at the Emergency Clinic

Authors: Masuma Novak, Daniel Novak

Abstract:

Background: Sweden along with other Nordic countries has the highest incidence of type 1 diabetes mellitus (T1DM) worldwide. The trend is increasing globally. The diagnosis is often given at the emergency clinic when children arrive with cardinal symptom of T1DM. Children with T1DM are known to have an increased risk of microvascular- and macrovascular complications. A family history of cardiovascular complications may further increase their risk. Clinically evident diabetes-related vascular complications are however rarely visible in childhood and adolescence, whereby an intensive diabetes treatment and normoglycemic control is a goal for every child. This study is a risk evaluation of children with T1DM based on their family’s cardiovascular history. Method: Since 2005 the Better Diabetes Diagnosis (BDD) study is a nationwide Swedish prospective cohort study that recruits new-onset T1DM who are less than 18 years old at time of diagnosis. For each newly diagnosed child, blood samples are collected for specific HLA genotyping and islet autoantibody assays and their family’s cardiovascular history is evaluated. As part of the BDD study, during the years 2010-2013 all children diagnosed with T1DM at the Queen Silvia’s Children’s Hospital in Sweden were asked about their family’s cardiovascular history. Questions regarded maternal and paternal high blood pressure, stroke, and myocardial infarction before the age of 55 years, and hyperlipidemia were answered. A maximum risk score of eight was possible. All children are clinically observed prospectively for early functional and structural abnormalities such as protein uremia, blood pressure, and retinopathy. Results: A total of 275 children aged 0 to 18 years were diagnosed with T1DM at the Queen Silvia’s Children’s Hospital emergency clinic during this four year period. The participation rate was 99.7%. 26.4% of the children had no hereditary cardiovascular risk factors. 22.7 % had one risk factor and 18.8% had two risk factors. 14.8% had three risk factors. 9.7% had four risk factors and 7.5% had five risk factors or more. Conclusion: Among children with T1DM in Sweden there is a difference in hereditary cardiovascular risk factors. These results indicate that children with T1DM who also have increased hereditary cardiovascular risk factors should be monitored closely with early screening for functional and structural cardiovascular abnormalities. This is a very preliminary and ongoing study which will be complemented with the cardiovascular risk analysis among children without T1DM.

Keywords: children, type I diabetes, emergency clinic, CVD risk

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3285 Quality of Life for Families with Children/Youth with Autism Spectrum Disorder

Authors: José Nogueira

Abstract:

This research aims to analyze the impact of autism spectrum disorders (ASD) in families with children and youth (0-25 years) with ASD in Portugal. The impact will be evaluated on a multidimensional perspective, following the work on the concept of quality life from WHOQOL Group (UN). The study includes quantitative and qualitative methodology. It correlates statistical sources and other information with the data obtained through a survey of a sample of about 100 families with children/youth with ASD (October and November 2013). The results indicate a strong impact of autism on the quality of life for families in all study dimensions. The research shows a negative impact on quality of life for families in material and financial conditions, physical and emotional well-being, career progression, feelings of injustice, social participation and self-perception of happiness. The quality of life remained in the relationship with the family and the spouse, interpersonal relationships and beliefs about himself. The ASD improved the quality of life aspects such as interest, knowledge and exercise of rights on disability, autonomy to make decisions and be able to deal with stress. Other dimensions are contemplated: a detailed characterization of the child/young with ASD and all family members (household composition, relationship status, academic qualifications, occupation, income, and leisure) the impact of diagnosis in the family wellbeing, medical and therapeutic processes, school inclusion, public support, social participation, and the adequacy and implementation of legislation. The study evaluates also the strengths and weaknesses of the Portuguese public rehabilitation system and demonstrates how a good law-in-theory may not solve the problems of families in practice due to the allocation of insufficient public resources, both financial and human resources.

Keywords: autism, families, quality of life, autism spectrum disorder

Procedia PDF Downloads 349
3284 Exploring the Risks and Vulnerabilities of Child Trafficking in West Java, Indonesia

Authors: B. Rusyidi, D. Mariana

Abstract:

Although reforms in trafficking regulations have taken place since 2007, Indonesia is still struggling to fight child trafficking. This study aimed to identify and assess risk factors and vulnerabilities in the life of trafficked children prior to, during, and after being trafficked in order to inform the child protection system and its policies. The study was qualitative and utilized in-depth interviews to collect data. Data were gathered in 2014 and 2015 from 15 trafficked and sexually exploited girls aged 14 to 17 years originating from West Java. Social workers, safe home personnel and parents were also included as informants. Data analysis was guided by the ecological perspective and theme analyses. The study found that risks and vulnerabilities of the victims were associated with conditions at various levels of the environment. At the micro level, risk factors and vulnerabilities included young age, family conflict/violence, involvement with the “wrong” circle of friends/peers, family poverty, lack of social and economic support for the victim’s family, and psychological damages due to trafficking experiences. At the mezzo level, the lack of structured activities after school, economic inequality, stigma towards victims, lack of services for victims, and minimum public education on human trafficking were among the community hazards that increased the vulnerability and risks. Gender inequality, consumerism, the view of children as assets, corruption, weak law enforcement, the lack of institutional support, and community-wide ignorance regarding trafficking were found as factors that increased risks and vulnerabilities at the macro level. The findings from the study underline the necessity to reduce risk factors and promote protective factors at the individual, family, community and societal levels. Shifting the current focus from tertiary to primary/prevention policies and improving institutional efforts are pressing needs in the context of reducing child trafficking in Indonesia. The roles of human service providers including social work also should be promoted.

Keywords: child trafficking, child sexual exploitation, ecological perspective, risks and vulnerabilities

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3283 An Interpretative Phenomenological Analysis on the Concept of Friends of Children in Conflict with the Law

Authors: Karla Kristine Bay, Jovie Ann Gabin, Allana Joyce Sasotona

Abstract:

This research employed an Interpretative Phenomenological Analysis to explore the experiences of Children in Conflict with the Law (CICL) which gave light to their concept of ‘friends’. Derived from this context are the following objectives of the study: 1) determining the differentiation of the forms of friends of the CICL; 2) presenting the process of attachment towards detachment in the formation of friendship; and 3) discussing the experiences, and reflections of the CICL on the ‘self’ out of their encounter with friendship. Using the data gathered from the individual drawings of the CICL of their representations of the self, family, friends, community, and Bahay Kalinga as subjects in the meaning-making process utilizing Filipino Psychology methods of pagtatanong-tanong (interview), and pakikipagkwentuhan (conversation), data analysis produced a synthesis of seventeen individual cases. Overall results generated three superordinate themes on the differentiation of the forms of friends which include friends with good influences, friends with bad influences, and friends within the family. While two superordinate themes were produced on the process of attachment towards detachment, namely social, emotional, and psychological experiences on the process of attachment, and emotional and psychological experiences on the process of detachment. Lastly, two superordinate themes were created on the experiences, and reflections of the CICL on the ‘self’ out of their encounter with friendship. This consists of the recognition of the ‘self’ as a responsible agent in developing healthy relationships between the self and others, and reconstruction of the self from the collective experiences of healing, forgiveness, and acceptance. These findings, together with supporting theories discussed the impact of friendship on the emergence of criminal behavior and other dispositions; springing from the child’s dissociation from the family that led to finding belongingness from an external group called friends.

Keywords: children in conflict with the law, criminal behavior, friends, interpretative phenomenological analysis

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3282 Angiotensin Converting Enzyme (ACE) and Angiotensinogen (AGT) Gene Variants in Pakistani Patients of Diabetes Mellitus and Diabetic Nephropathy

Authors: Rozeena Shaikh, Syed M Shahid, Jamil Ahmad, Qaisar Mansoor, Muhammad Ismail, Abid Azhar

Abstract:

Introduction: Diabetes mellitus (DM) is a prevalent non-communicable disease worldwide. In most high-income countries as well as middle-income and low- income countries. DM is among the top causes of deaths. DM may lead to many vascular complications like hypertension, nephropathy, retinopathy, neuropathy, and foot. Diabetic nephropathy (DN) characterized by persistent albuminuria is a leading cause of end stage renal failure (ESRF). Pathogenesis of diabetic nephropathy is implicated by the polymorphisms in genes encoding the components of reninangiotensin- aldosteron system (RAAS) which include angiotensinogen (AGT), angiotensin-II receptor and particularly angiotensin converting enzyme (ACE) gene. Method: Study subjects include 110 control, 110 patients with DM without hypertension, 110 patients with DM with hypertension and 110 patients with DN. Blood samples were collected for Biochemical analysis and PCR and sequencing for the specific region of both genes. Results: The frequency of DD genotype and D allele of ACE (I/D) was significantly (p<0.05) high in DM normotensive, DM hypertensive and DN patients when compared to control. The ACE G2350A genotypes and allele frequencies were significantly different (p<0.05) in DM hypertensive patients as compared to control and DN, while no difference was observed between DM normotensive and DN when compared to control. The genotypes and alleles of AGT (M268T) polymorphism were significantly different (p<0.05) in DM normotensive, DM hypertensive and DN when compared to control. Conclusion: The DD genotype and D allele of ACE (I/D), GG genotype and G allele of ACE (G2350A) and the TT genotype and T allele of AGT (M268T) polymorphism have shown a significant difference in genotype and allele frequencies between controls and patients.

Keywords: genetic variations, ACE, AGT, diabetes mellitus, diabetic nephropathy, Pakistan

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3281 Changes in the Lives of Families Having a Child with Cancer

Authors: Ilknur Kahriman, Hacer Kobya Bulut, Birsel C. Demirbag

Abstract:

Introduction and Aim: One of the most challenging aspects of being parents of a child diagnosed with cancer is to balance their normal family life with the child's health needs and treatment requirements. Cancer covers an important part of family life and gets ahead of other matters. Families mostly feel that everything has changed in their lives with the cancer diagnosis and are obliged to make a number of adjustments in their lives. Their normal family life suddenly begins to include treatments, hospital appointments and hospitalizations. This study is a descriptive research conducted to determine the changes in the lives of families who had a child with cancer. Methods: This study was carried out with 65 families having children diagnosed with cancer in 0-17 age group at outpatient pediatric oncology clinic and polyclinic of a university hospital in Trabzon. Data were collected through survey method from August to November, 2015. In the analysis of the data, numbers, percentage and chi-square test were used. Findings: It was found out that the average age of mothers was 35.33 years, most of them were primary school graduates (44.6%) and housewives (89.2%) and the average age of fathers was 39.30 years, most of them were high school graduates (29.2%) and self-employed (43.8% ). The majority of their children were boys and their average age was 7.74 years and 77% had Acute lymphocytic leukemia (ALL) diagnosis. 87.5% of the mothers who had a child with cancer had increased fears in their lives, 84.4% had increased workload at home, 82.8% had more stressful life and 82.8% felt themselves physically tired. The mothers indicated that their healthy children could not do the social activities they had used to do before (56.5%), they no longer fed their healthy children with the food they loved eating so that the sick child did not aspire (52.3%) and their healthy children were more furious than before (53.2%). As for the fathers, the fundamental change they had was increased workload at home (82.3%), had more stressful life (80.6%) and could no longer allocate time to the activities they had been interested in and done before (77.8%). There was not a significant difference between the sick children gender and the changes in their parents lives. The communication between the mothers and their healthy children were determined to be positively affected in the families in which the sick child's disease duration was under 12 months (X2 = 6.452, p = 0.011). Conclusion: This study showed that parents having a child with cancer had more workload at home, had more stressful lives, could not allocate time to social activities, had increased fears, felt themselves tired and their healthy children became more furious and their social activities reduced.

Keywords: child, cancer, changes in lives, family

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3280 Mutation Profiling of Paediatric Solid Tumours in a Cohort of South African Patients

Authors: L. Lamola, E. Manolas, A. Krause

Abstract:

Background: The incidence of childhood cancer incidence is increasing gradually in low-middle income countries, such as South Africa. Globally, there is an extensive range of familial- and hereditary-cancer syndromes, where underlying germline variants increase the likelihood of developing cancer in childhood. Next-Generation Sequencing (NGS) technologies have been key in determining the occurrence and genetic contribution of germline variants to paediatric cancer development. We aimed to design and evaluate a candidate gene panel specific to inherited cancer-predisposing genes to provide a comprehensive insight into the contribution of germline variants to childhood cancer. Methods: 32 paediatric patients (aged 0-18 years) diagnosed with a malignant tumour were recruited, and biological samples were obtained. After quality control, DNA was sequenced using an ion Ampliseq 50 candidate gene panel design and Ion Torrent S5 technologies. Sequencing variants were called using Ion Torrent Suite software and were subsequently annotated using Ion Reporter and Ensembl's VEP. High priority variants were manually analysed using tools such as MutationTaster, SIFT-INDEL and VarSome. Putative identified candidates were validated via Sanger Sequencing. Results: The patients studied had a variety of cancers, the most common being nephroblastoma (13), followed by osteosarcoma (4) and astrocytoma (3). We identified 10 pathogenic / likely pathogenic variants in 10 patients, most of which were novel. Conclusions: According to the literature, we expected ~10% of our patient population to harbour pathogenic or likely pathogenic germline variants, however, we reported about 3 times (~30%) more than we expected. Majority of the identified variants are novel; this may be because this is the first study of its kind in an understudied South African population.

Keywords: Africa, genetics, germline-variants, paediatric-cancer

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3279 Cassava Plant Architecture: Insights from Genome-Wide Association Studies

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

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3278 Predictive Factors of Exercise Behaviors of Junior High School Students in Chonburi Province

Authors: Tanida Julvanichpong

Abstract:

Exercise has been regarded as a necessary and important aspect to enhance physical performance and psychology health. Body weight statistics of students in junior high school students in Chonburi Province beyond a standard risk of obesity. Promoting exercise among Junior high school students in Chonburi Province, essential knowledge concerning factors influencing exercise is needed. Therefore, this study aims to (1) determine the levels of perceived exercise behavior, exercise behavior in the past, perceived barriers to exercise, perceived benefits of exercise, perceived self-efficacy to exercise, feelings associated with exercise behavior, influence of the family to exercise, influence of friends to exercise, and the perceived influence of the environment on exercise. (2) examine the predicting ability of each of the above factors while including personal factors (sex, educational level) for exercise behavior. Pender’s Health Promotion Model was used as a guide for the study. Sample included 652 students in junior high schools, Chonburi Provience. The samples were selected by Multi-Stage Random Sampling. Data Collection has been done by using self-administered questionnaires. Data were analyzed using descriptive statistics, Pearson’s product moment correlation coefficient, Eta, and stepwise multiple regression analysis. The research results showed that: 1. Perceived benefits of exercise, influence of teacher, influence of environmental, feelings associated with exercise behavior were at a high level. Influence of the family to exercise, exercise behavior, exercise behavior in the past, perceived self-efficacy to exercise and influence of friends were at a moderate level. Perceived barriers to exercise were at a low level. 2. Exercise behavior was positively significant related to perceived benefits of exercise, influence of the family to exercise, exercise behavior in the past, perceived self-efficacy to exercise, influence of friends, influence of teacher, influence of environmental and feelings associated with exercise behavior (p < .01, respectively) and was negatively significant related to educational level and perceived barriers to exercise (p < .01, respectively). Exercise behavior was significant related to sex (Eta = 0.243, p=.000). 3. Exercise behavior in the past, influence of the family to exercise significantly contributed 60.10 percent of the variance to the prediction of exercise behavior in male students (p < .01). Exercise behavior in the past, perceived self-efficacy to exercise, perceived barriers to exercise, and educational level significantly contributed 52.60 percent of the variance to the prediction of exercise behavior in female students (p < .01).

Keywords: predictive factors, exercise behaviors, Junior high school, Chonburi Province

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3277 A Dynamic Software Product Line Approach to Self-Adaptive Genetic Algorithms

Authors: Abdelghani Alidra, Mohamed Tahar Kimour

Abstract:

Genetic algorithm must adapt themselves at design time to cope with the search problem specific requirements and at runtime to balance exploration and convergence objectives. In a previous article, we have shown that modeling and implementing Genetic Algorithms (GA) using the software product line (SPL) paradigm is very appreciable because they constitute a product family sharing a common base of code. In the present article we propose to extend the use of the feature model of the genetic algorithms family to model the potential states of the GA in what is called a Dynamic Software Product Line. The objective of this paper is the systematic generation of a reconfigurable architecture that supports the dynamic of the GA and which is easily deduced from the feature model. The resultant GA is able to perform dynamic reconfiguration autonomously to fasten the convergence process while producing better solutions. Another important advantage of our approach is the exploitation of recent advances in the domain of dynamic SPLs to enhance the performance of the GAs.

Keywords: self-adaptive genetic algorithms, software engineering, dynamic software product lines, reconfigurable architecture

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3276 The Gypsy Community Facing the Sexual Orientation: An Empirical Approach to the Attitudes of the Gypsy Population of Granada Towards Homosexual Sex-Affective Relationships

Authors: Elena Arquer Cuenca

Abstract:

The gypsy community has been a mistreated and rejected group since its arrival in the Iberian Peninsula in the 15th century. At present, despite being the largest ethnic minority group in Spain as well as in Europe, the different legal and social initiatives in favour of equality continue to suffer discrimination by the general society. This has fostered a strengthening of the endogroup accompanied by cultural conservatism as a form of self-protection. Despite the current trend of normalization of sexual diversity in modern societies, LGB people continue to suffer discrimination, especially in more traditional environments or communities. This rejection for reasons of sexual orientation within the family or community can hinder the free development of the person and compromise peaceful coexistence. The present work is intended as an approach to the attitudes of the gypsy population towards non-heterosexual sexual orientation. The objective is none other than ‘to know the appreciation that the gypsy population has about homosexual sex-affective relationships, in order to assess whether this has any impact on family and community coexistence’. The following specific objectives are derived from this general objective: ‘To find out whether there is a relationship between the dichotomous Roma gender system and the acceptance/rejection of homosexuality’; ‘to analyse whether sexual orientation has an impact on the coexistence of the Roman family and community’; ‘to analyse whether the historical discrimination suffered by the Roman population favours the maintenance of the patriarchal heterosexual reproductive family’; and lastly ‘to explore whether ICTs have promoted the process of normalisation and/or acceptance of homosexuality within the Roma community’. In order to achieve these objectives, a bibliographical and documentary review has been used, as well as the semi-structured interview technique, in which 4 gypsy people participated (2 women and 2 men of different ages). One of the main findings was the inappropriateness of the use of the homogenising category "Gypsy People" at present, given the great diversity among the Roma communities. Moreover, the difficulty in accepting homosexuality seems to be related to the fact that the heterosexual reproductive family has been the main survival mechanism of Roma communities over centuries. However, it will be concluded that attitudes towards homosexuality will vary depending on the socio-economic and cultural context and factors such as age or professed religion. Three main contributions of this research are: firstly, the inclusion of sexual orientation as a variable to be considered when analysing peaceful coexistence; secondly socio-historical dynamics and structures of inequality have been taken into account when analysing Roma attitudes towards homosexuality; and finally, the processual nature of socio-cultural changes has also been considered.

Keywords: gender, homosexuality, ICTs, peaceful coexistence, Roma community, sexual orientation

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3275 Preparation and Struggle of Two Generations for Future Care: A Study of Intergenerational Care Planning among Mainland Immigrant Ageing Families in Hong Kong

Authors: Xue Bai, Ranran He, Chang Liu

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Care planning before the onset of intensive care needs can benefit older adults’ psychological well-being and increases families’ ability to manage caregiving crises and cope with care transitions. Effective care planning requires collaborative ‘team-work’ in families. However, future care planning has not been substantially examined in intergenerational or family contexts, let alone among immigrant families who have to face particular challenges in parental caregiving. From a family systems perspective, this study intends to explore the extent, processes, and contents of intergenerational care planning of Mainland immigrant ageing families in Hong Kong and to examine the intergenerational congruence and discrepancies in the care planning process. Adopting a qualitative research design, semi-structured in-depth interviews were conducted with 17 adult child-older parent pairs and another 33 adult children. In total, 50 adult children who migrated to Hong Kong after the age of 18 with more than three years’ work experience in Hong Kong had at least one parent aged over 55 years old who was not a Hong Kong resident and considered his/herself as the primary caregiver of the parent were recruited. Seventeen ageing parents of the recruited adult children were invited for dyadic interviews. Scarcity of caregiving resources in the context of cross-border migration, intergenerational discrepancies in care planning stages, both generations’ struggle and ambivalence toward filial care, intergenerational transmission of care values, and facilitating role of accumulated family capital in care preparation were primary themes concluded from participants’ narratives. Compared with ageing parents, immigrant adult children generally displayed lower levels of care planning. Although with a strong awareness of parents’ future care needs, few adult children were found engaged in concrete planning activities. This is largely due to their uncertainties toward future life and career, huge work and living pressure, the relatively good health status of their parents, and restrictions of public welfare policies in the receiving society. By contrast, children’s cross-border migration encouraged ageing parents to have early and clear preparation for future care. Ageing parents mostly expressed low filial care expectations when realizing the scarcity of family caregiving resources in the cross-border context. Even though they prefer in-person support from children, most of them prepare themselves for independent ageing to prioritize the next generation’s needs or choose to utilize paid services, welfare systems, friend networks, or extended family networks in their sending society. Adult children were frequently found caught in the dilemma of desiring to provide high quality and in-person support for their parents but lacking sufficient resources. Notably, a salient pattern of intergenerational transmission in terms of family and care values and ideal care arrangement emerged from intergenerational care preparation. Moreover, the positive role of accumulated family capital generated by a reunion in care preparation and joint decision-making were also identified. The findings of the current study will enhance professionals’ and service providers’ awareness of intergenerational care planning in cross-border migration contexts, inform services to alleviate unpreparedness for elderly care and intergenerational discrepancies concerning care arrangements and broaden family services to encompass intergenerational care planning interventions. Acknowledgment: This study is supported by a General Research Grant from the Research Grants Council of the HKSAR, China (Project Number: 15603818).

Keywords: intergenerational care planning, mainland immigrants in Hong Kong, migrant family, older adults

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