Search results for: family attachment
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 3463

Search results for: family attachment

2203 Welcome to 'Almanya': Effects of Displacement among Refugee Women

Authors: Carmen Nechita

Abstract:

This research explores the world of Syrian refugee women living in Dresden and their efforts to reconstruct their lives in the state of Saxony in Germany. The focus is on the initial period of adjustment and understanding how refugee women use culture, family ties, and tradition to contest and rebuild new relationships with the host country. Faced with a new status as “the refugee”, women have to re-imagine their ethno-cultural identity in order to cope with life in Diaspora. In order to understand the coping mechanism and the displacement effects on Syrian women, interviews with twelve refugee women were conducted. Traumatic experiences of loss and oppression are at the core of their confessions. While gender violence, abuse and patriarchal framework shape their narratives, this research argues that there is a need to look at this from a cultural perspective and try to distance ourselves from the western paradigm. The way Syrian women refute and rebuild their national and ethno-cultural identity in order to negotiate for themselves new space within German borders is explored. Two discourses are bridged: one of multiculturalism and one of tradition in order to explain how Syrian women experience western notions of family, womanhood and spousal dynamics. The process is painful, traumatic and marked by feelings of low self-worth, but in the end, new codes emerge and these women come out more empowered. The paper includes the migration experience and explores the ways in which Syrian refugee women tend to tell their complex stories, and how they reconstruct their identity in a new territory while faced with a different culture that discriminates against them. During the research, four distinct phases in the acculturation period were identified: “the survival”, “the honeymoon period”, “the isolation period” and “the anger period”. Each phase is analyzed in order to understand what triggers them, how women migrate from one phase to another and what can be done to make the process easier. This paper contributes to the field of refugee studies by offering a thorough understanding of the initial phases of the acculturation process in the case of Syrian refugee women. The study examines the fleeing and settlement experience in order to understand the complex ways that refugee women cope with the traumatic experience of settlement in another country and in a different culture. *Almanya: The Arabic word for Germany.

Keywords: displacement, migration, refugee women, Syria

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2202 Pressure Gradient Prediction of Oil-Water Two Phase Flow through Horizontal Pipe

Authors: Ahmed I. Raheem

Abstract:

In this thesis, stratified and stratified wavy flow regimes have been investigated numerically for the oil (1.57 mPa s viscosity and 780 kg/m3 density) and water twophase flow in small and large horizontal steel pipes with a diameter between 0.0254 to 0.508 m by ANSYS Fluent software. Volume of fluid (VOF) with two phases flows using two equations family models (Realizable k-

Keywords: CFD, two-phase flow, pressure gradient, volume of fluid, large diameter, horizontal pipe, oil-water stratified and stratified wavy flow

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2201 The Biomechanical Analysis of Pelvic Osteotomies Applied for Developmental Dysplasia of the Hip Treatment in Pediatric Patients

Authors: Suvorov Vasyl, Filipchuk Viktor

Abstract:

Developmental Dysplasia of the Hip (DDH) is a frequent pathology in pediatric orthopedist’s practice. Neglected or residual cases of DDH in walking patients are usually treated using pelvic osteotomies. Plastic changes take place in hinge points due to acetabulum reorientation during surgery. Classically described hinge points and a traditional division of pelvic osteotomies on reshaping and reorientation are currently debated. The purpose of this article was to evaluate biomechanical changes during the most commonly used pelvic osteotomies (Salter, Dega, Pemberton) for DDH treatment in pediatric patients. Methods: virtual pelvic models of 2- and 6-years old patients were created, material properties were assigned, pelvic osteotomies were simulated and biomechanical changes were evaluated using finite element analysis (FEA). Results: it was revealed that the patient's age has an impact on pelvic bones and cartilages density (in younger patients the pelvic elements are more pliable - p<0.05). Stress distribution after each of the abovementioned pelvic osteotomy was assessed in 2- and 6-years old patients’ pelvic models; hinge points were evaluated. The new term "restriction point" was introduced, which means a place where restriction of acetabular deformity correction occurs. Pelvic ligaments attachment points were mainly these restriction points. Conclusions: it was found out that there are no purely reshaping and reorientation pelvic osteotomies as previously believed; the pelvic ring acts as a unit in carrying out the applied load. Biomechanical overload of triradiate cartilage during Salter osteotomy in 2-years old patient and in 2- and 6-years old patients during Pemberton osteotomy was revealed; overload of the posterior cortical layer in the greater sciatic notch in 2-years old patient during Dega osteotomy was revealed. Level of Evidence – Level IV, prognostic.

Keywords: developmental dysplasia of the hip, pelvic osteotomy, finite element analysis, hinge point, biomechanics

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2200 Invisible Aircraft Using Plasma Display

Authors: C. Ramamoorthy, R. Ranga Raj

Abstract:

In olden days the Ramayana epic depicts the usage of invisible and fuel less aircraft named pushpavimana. The change of color in the reptile family chameleon paves way for the concept of color change phenomenon available in nature. In present scenario the aircrafts are visible so it is easily identified. So there are too many problems from the threatening. Research is still going on about this problem by using Liquid Crystal Display (LCD). Objective of this paper is to find much better to use the concept of invisible aircraft using plasma display through Couple Charged Device camera (CCD), which has a high resolution and can be used for many purposes like spying, defense, etc. Moreover it is cost wise cheap then, escaping the foe viewing.

Keywords: CCD camera, chameleon, invisible, plasma display

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2199 Let-7 Mirnas Regulate Inflammatory Cytokine Production in Bovine Endometrial Cells after Lipopolysaccharide Challenge by Targeting TNFα

Authors: S. Ibrahim, D. Salilew-Wondim, M. Hoelker, C. Looft, E. Tholen, C. Grosse-Brinkhaus, K. Schellander, C. Neuhoff, D. Tesfaye

Abstract:

Bovine endometrial cells appear to have a key role in innate immune defense of the female genital tract. A better understanding of molecular changes in microRNAs (miRNAs) and their target genes expression may identify reliable prognostic indicators for cows that will resolve inflammation and resume cyclicity. In the current study, we hypothesized that let-7 miRNAs family has a primary role in the innate immune defence of the endometrium tissue against bacterial infection, which is partly achieved via regulating mRNA stability of pro-inflammatory cytokines at the post-transcriptional level. Therefore, we conducted two experiments. In the first experiment, primary bovine endometrial cells were challenged with clinical (3.0 μg/ml) and sub-clinical (0.5 μg/ml) doses of lipopolysaccharide (LPS) for 24h. In the 2nd experiment, we have investigated the potential role of let-7 miRNAs (let-7a and let-7f) using gain and loss of function approaches. Additionally, tumor necrosis factor alpha (TNFα), transforming growth factor beta 1 induced transcript 1 (TGFB1I1) and serum deprivation response (SDPR) genes were validated using reporter assay. Here we addressed for the first time that let-7 miRNAs have a precise role in bovine endometrium, where LPS dysregulated let-7 miRNAs family expression was associated with an increased pro-inflammatory cytokine level by directly/indirectly targeting the TNFα, interleukin 6 (IL6), nuclear factor kappa-light-chain enhancer of activated B cells (NFκB), TGFβ1I1 and SDPR genes. To our knowledge, this is the first study showing that TNFα, TGFβ1I1 and SDPR were identified and validated as novel let-7 miRNAs targets and could have a distinct role in inflammatory immune response of LPS challenged bovine endometrial cells. Our data represent a new finding by which uterine homeostasis is maintained through functional regulation of let-7a by down-regulation of pro-inflammatory cytokines expression (TNFα and IL6) at the mRNA and protein levels. These findings suggest that LPS serves as a negative regulator of let-7 miRNAs expression and provides a mechanism for the persistent pro-inflammatory phenotype, which is a hallmark of bovine subclinical endometritis.

Keywords: bovine endometrial cells, let-7, lipopolysaccharide, pro-inflammatory cytokines

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2198 An Effective Preventive Program of HIV/AIDS among Hill Tribe Youth, Thailand

Authors: Tawatchai Apidechkul

Abstract:

This operational research was conducted and divided into two phases: the first phase aimed to determine the risk behaviors used a cross-sectional study design, following by the community participatory research design to develop the HIV/AIDS preventive model among the Akha youths. The instruments were composed of completed questionnaires and assessment forms that were tested for validity and reliability before use. Study setting was Jor Pa Ka and Saen Suk Akha villages, Mae Chan District, Chiang Rai, Thailand. Study sample were the Akha youths lived in the villages. Means and chi-square test were used for the statistical testing. Results: Akha youths in the population mobilization villages live in agricultural families with low income and circumstance of narcotic drugs. The average age was 16 (50.00%), 51.52% Christian, 48.80% completed secondary school, 43.94% had annual family income of 30,000-40,000 baht. Among males, 54.54% drank, 39.39% smoked, 7.57% used amphetamine, first sexual intercourse reported at 14 years old, 50.00% had 2-5 partners, 62.50% had unprotected sex (no-condom). Reasons of unprotected sex included not being able to find condom, unawareness of need to use condoms, and dislike. 28.79% never been received STI related information, 6.06% had STI. Among females, 15.15% drank, 28.79% had sexual intercourse and had first sexual intercourse less than 15 year old. 40.00% unprotected sex (no-condom), 10.61% never been received STI related information, and 4.54% had STI. The HIV/AIDS preventive model contained two components. Peer groups among the youths were built around interests in sports. Improving knowledge would empower their capability and lead to choices that would result in HIV/AIDS prevention. The empowering model consisted of 4 courses: a. human reproductive system and its hygiene, b. risk-avoid skills, family planning, and counseling techniques, c. HIV/AIDS and other STIs, d. drugs and related laws and regulations. The results of the activities found that youths had a greater of knowledge and attitude levels for HIV/AIDS prevention with statistical significance (χ2-τεστ= 12.87, p-value= 0.032 and χ2-τεστ= 9.31, p-value<0.001 respectively). A continuous and initiative youths capability development program is the appropriate process to reduce the spread of HIV/AIDS in youths, particularly in the population who have the specific of language and culture.

Keywords: AIV/AIDS, preventive program, effective, hill tribe

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2197 Delivering Comprehensive Sexuality Education to Students with Disability in Special Schools in Fiji

Authors: Sera Ratu, Jane Chivers, Jessica Botfield

Abstract:

Objectives: The Reproductive and Family Health Association of Fiji (RFHAF) and Family Planning Australia are working together to introduce quality comprehensive sexuality education into Special Schools - which are schools for students with disability. Sexual and reproductive health information is needed by students with disability attending Special Schools. Children with special needs go through the same changes as able-bodied children. The Fiji Disability Inclusion project is a three-year project that started in 2015. One of its objectives is to increase exposure to comprehensive sexuality education for primary and secondary school students with disability. Method: A baseline survey was undertaken with 72 students with disability; it included questions about puberty, sexual health, and relationships. 34 teachers also completed a survey about their views of sexuality education and confidence in delivering it. Consent was facilitated by running information sessions with teachers and parents. The process of gaining consent and completing the surveys was designed to be accessible to students with disability. Given the sensitive nature of reproductive and sexual health, and the potential vulnerability of young people with disability, ethical considerations were important in the design and implementation of the surveys, and ethics approval was obtained. Results: Findings from the surveys suggest that students have mixed knowledge and awareness of sexual health issues. Most teachers reported a need for their students to learn about sexuality and relationships. A positive outcome of conducting the surveys was that RFHAF staff reported they have developed skills and confidence in communicating with young people with a range of disabilities. They have a greater understanding of what students want to learn, and what teachers feel is important. Conclusions: These survey findings will assist RFHAF in developing comprehensive sexuality education programs that are relevant and accessible to students in Special Schools, and to develop an appropriate professional development program for teachers. Findings may also be applicable to other Special Schools when developing sexuality education programs. The education programs developed for students as part of this project, and the professional development programs for teachers, may be relevant to other countries.

Keywords: comprehensive sexuality education, delivery, sexual and reproductive health and rights, special schools

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2196 Design of a New Vegetable Snack

Authors: Patricia Calvo, Francisco M. Sánchez, María J. Rodríguez

Abstract:

Nowadays, food intake is becoming more irregular due to changes in family organization and lifestyle. Snacking is part of the day-to-day lives of people, however, most of the snacks have a high saturated fat, salt and refined sugar content; these dietary factors are believed to have negative health consequences. For this reason, there has been an increase in consumer demand for healthy, natural and convenient foods, so the development of a significant portion of new products focuses on improving the nutritional value of food snacks through modification its nutritional composition. In this paper, a new product made from vegetables has been designed. This new product would be an ideal food format to include ingredients with positive health benefits.

Keywords: healthy, pepper, dried, carotenes, polyphenols

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2195 Parenting Practices, Challenges and Prospectus of Working Mothers in Arsi University: Oromia Regional State, Ethiopia

Authors: Endalew Fufa Kufi

Abstract:

Every married person aspires to be a parent regardless of the situation in which s/he lives. Such aspiration meets with reality when the destined parent is able to give adequate supports and services to his/her children, whether the latter are got by birth or through adoption. The adequacy of services parents provide their children is both enriched and tempted by the work on which they involve. On the one hand, parents need to work and earn a living in order to support their family. On the other hand, they must spend most of their time outside home to do the work, which shortens the time and might they spare to care for their children. Where the sufficiency of services parents owe their children could be ascertained by in terms of life skills, physical care and related provisions, the role of working fathers and mothers in providing such supports could be diverse across cultures and work traditions. Hence, this research deals with the investigation of working mothers’ parental practices, challenges they face in providing parental services and the implication for the future progress of the parents and their children. Target of the study will be Arsi University in Oromia Regional State of Ethiopia. Descriptive survey design in holding the research, and data for the research will be collected in the form of experiential self-report from 150 working mothers selected from the entire working women population of Colleges of Agriculture and Environmental Studies and College of Health Sciences through stratified random-sampling. Instruments of data collection will be closed and open-ended questionnaire. Complementary data will also be collected from purposively selected samples through semi-structured interview. Data for the research will be collected through questionnaire first and then through interview. Data analysis will also follow the same procedure. The collected data will systematically be organized and statistically and thematically analyzed in order to come up with indicative findings. The overarching thesis is that, working mothers in the study area bear a lot of responsibilities both at home and at work place which leave them very little time for parenting services. Unless due attention is given to the way they can spare time for their children, they are more likely to be tense between work-life and family care services, which tempt them in different directions.

Keywords: challenges, mothers, practices, university, working

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2194 Closing the Front Door of Child Protection: Rethinking Mandated Reporting

Authors: Miriam Itzkowitz, Katie Olson

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Through an interdisciplinary and trauma-responsive lens, this article reviews the legal and social history of mandated reporting laws and family separation, examines the ethical conundrum of mandated reporting as it relates to evidence-based practice, and discusses alternatives to mandated reporting as a primary prevention strategy. Using existing and emerging data, the authors argue that mandated reporting as a universal strategy contributes to racial disproportionality in the child welfare system and that anti-racist practices should begin with an examination of our reliance on mandated reporting.

Keywords: child welfare, education, mandated reporting, racial disproportionality, trauma

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2193 Patriotic Education through Private/Everyday Narratives: What We Can Learn from Young People

Authors: Yijie Wang, Hanwei Cheng

Abstract:

Under the Chinese educational context, the materials for patriotic education typically take the form of grand narratives. However, in post-modern times the younger members of society tend to welcome elements of more micro and personal nature. It is therefore important to explore how patriotism can be integrated into an ‘everyday’, private narrative that holds more attraction for the young. Based on semi-structured interviews of eight Chinese graduate students, this research examines how Chinese young people draw materials to establish national identity and develop love for the country from everyday-life details, as well as how they perceive, interpret and articulate their patriotism through private narratives. And implications for patriotic education are proposed accordingly. Several conclusions are drawn from the pre-interviews. Firstly, sensory experiences that remind people of their country—such as the taste of Chinese delicacies and the sound of a traditional instrument—are a major source of patriotic feelings. Secondly, the love for the country often stems from and is continued to be mediated by the emotional attachment with other people, typically significant others, and patriotism is articulated (or acknowledged) by the young as a kind of ‘sentiment’ rather than ‘faith’ or ‘belief’. Thirdly, for young people who are currently studying abroad, their birth country represents a kind of familiar, well-accustomed life or lifestyle, and any nostalgic realization of it leads to increased national belonging and sense of identity. Fourthly, the awareness of the country’s transformations—positive ones and neutral ones alike—triggers young people affections towards the country, and even negative transformations may result in promoted sense of self-involvement and therefore consolidate national identity. Implications for patriotic education can be drawn accordingly, and although the research is conducted under the Chinese context, it will hopefully contribute to the understanding of relevant fields.

Keywords: national identity, patriotic education, private narrative, young people

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2192 The Quality of Life, Situations and Emerging Concerns of Parents of Children with Neurodevelopmental Disorders in Philippine Children's Medical Center during the Covid-19 Pandemic

Authors: Annelyn Fatima Lopez, Ermenilda Avendano, Aileen Marie Vargas, Lara Baylon, Rorilee Angeles

Abstract:

BACKGROUND: The COVID-19 resulted in a public health emergency and quarantine measures which may negatively impact psychosocial and environmental aspects of vulnerable populations. OBJECTIVES: This study intended to determine the quality of life, situations and emerging concerns of parents of children with neurodevelopmental disorders during the ongoing coronavirus pandemic. METHODOLOGY: Parents of patients seen in the PCMC Neurodevelopmental Pediatrics OPD clinic were recruited to fill out questionnaires on parent and child characteristics, survey on situations and emerging concerns during the coronavirus pandemic and WHOQOL-BREF (Filipino version) for parental quality of life. RESULTS: Data from 115 respondents showed a lower score in the environmental domain. The child characteristics that are statistically comparable with the QoL scores include sex, severity of ID and ADHD while the parent characteristics that are statistically comparable with the QoL scores include educational attainment, monthly family income, father’s employment status and family structure (P-value <0.05). Most respondents reported physical distancing (82.61%) and curfew (80.87%) as measures implemented due to the pandemic. Inability to access essential services (43.48-74.48%) were further compounded by limited financial resources (51.30%) and public transport (60%). Government responses received include quarantine pass (90.43%), food allowance or relief package (86.09%), disinfection (60.87%), DSWD-SAP (42.61%) and cash distribution (41.74%). Concerns encountered include socio-environmental issues (i.e. no available transportation, effect on the ability to earn, inadequate food/medicine rations, disruptions in basic social services) and patient concerns (i.e. access to education, medical, developmental and behavioral services, nutrition and sleep). RECOMMENDATIONS: Programs and policies should be planned accordingly to provide improvement of quality of life for both parents and the child with a neurodevelopmental disorder.

Keywords: covid-19, neurodevelopmental disorder, parental quality of life, whoqol-bref

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2191 Development of Essential Oil-Loaded Gelatin Hydrogels for Use as Antibacterial Wound Dressing

Authors: Piyachat Chuysinuan, Nitirat Chimnoi, Arthit Makarasen, Nanthawan Reuk-Ngam, Pitt Supaphol, Supanna Techasakul

Abstract:

In this work, biomaterial wound dressings was developed based on gelatin containing herbal substances (essential oil), a substance from the plant Eupatorium adenophorum Spreng (Crofton weed) that used as traditional wound healers. Gelatin hydrogel was prepared from a 10 wt-% gelatin solution. The oil in water (o/w) emulsion Eupatorium adenophorum of essential oil were prepared and used Pluronic F68 as a surfactant. The 10, 20, and 30 % v/v emulsion were mixed with gelatin solution and cast into film. These hydrogels were tested for their gel fraction, swelling and weight loss behavior. With an increase in the emulsion concentration the emulsion-loaded in hydrogels, the gel fraction were decreased due to the crosslink density, while the swelling and weight loss behavior were increased with an increasing in the emulsion content. The potential to use the emulsion-containing gelatin hydrogels as wound dressing was assessed on investigation the release characteristics of the as-loaded hydrogels. The E. adenophorum essential oil was first identified the chemical composition by using GC-MS analysis. The principal components of the oil were p-cymene (16.23%), bornyl acetate (11.84%), and amorpha-4, 7(11)-diene (10.51%). The hydrogel wound dressing containing essential oil was then characterized for their antibacterial activity against Gram-positive and Gram-negative in order to elucidate their potential for use as antibacterial wound dressings by using agar disk diffusion methods. The result showed that E. adenophorum essential oil and the emulsion-loaded gelatin hydrogel inhibited the growth of the test pathogens, Staphylococcus aureus and Staphylococcus epidermidis and increased with increasing the initial amount of essential oil in the hydrogels which confirmed their application as antibacterial wound dressings. Furthermore, the potential use of these wound dressings was further assessed in terms of the indirect cytotoxicity, in vitro attachment and proliferation of dermal human fibroblasts cultured in the hydrogel wound dressings.

Keywords: hydrogel, antibacterial wound dressing, Eupatorium adenophorum essential oil, gelatin

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2190 Uncanny Orania: White Complicity as the Abject of the Discursive Construction of Racism

Authors: Daphne Fietz

Abstract:

This paper builds on a reflection on an autobiographical experience of uncanniness during fieldwork in the white Afrikaner settlement Orania in South Africa. Drawing on Kristeva’s theory of abjection to establish a theory of Whiteness which is based on boundary threats, it is argued that the uncanny experience as the emergence of the abject points to a moment of crisis of the author’s Whiteness. The emanating abject directs the author to her closeness or convergence with Orania's inhabitants, that is a reciprocity based on mutual Whiteness. The experienced confluence appeals to the author’s White complicity to racism. With recourse to Butler’s theory of subjectivation, the abject, White complicity, inhabits both the outside of a discourse on racism, and of the 'self', as 'I' establish myself in relation to discourse. In this view, the qualities of the experienced abject are linked to the abject of discourse on racism, or, in other words, its frames of intelligibility. It then becomes clear, that discourse on (overt) racism functions as a necessary counter-image through which White morality is established instead of questioned, because here, by White reasoning, the abject of complicity to racism is successfully repressed, curbed, as completely impossible in the binary construction. Hence, such discourse endangers a preservation of racism in its pre-discursive and structural forms as long as its critique does not encompass its own location and performance in discourse. Discourse on overt racism is indispensable to White ignorance as it covers underlying racism and pre-empts further critique. This understanding directs us towards a form of critique which does necessitate self-reflection, uncertainty, and vigilance, which will be referred to as a discourse of relationality. Such a discourse diverges from the presumption of a detached author as a point of reference, and instead departs from attachment, dependence, mutuality and embraces the visceral as a resource of knowledge of relationality. A discourse of relationality points to another possibility of White engagement with Whiteness and racism and further promotes a conception of responsibility, which allows for and highlights dispossession and relationality in contrast to single agency and guilt.

Keywords: abjection, discourse, relationality, the visceral, whiteness

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2189 Periodicity of Solutions to Impulsive Equations

Authors: Jin Liang, James H. Liu, Ti-Jun Xiao

Abstract:

It is known that there exist many physical phenomena where abrupt or impulsive changes occur either in the system dynamics, for example, ad-hoc network, or in the input forces containing impacts, for example, the bombardment of space antenna by micrometeorites. There are many other examples such as ultra high-speed optical signals over communication networks, the collision of particles, inventory control, government decisions, interest changes, changes in stock price, etc. These are impulsive phenomena. Hence, as a combination of the traditional initial value problems and the short-term perturbations whose duration can be negligible in comparison with the duration of the process, the systems with impulsive conditions (i.e., impulsive systems) are more realistic models for describing the impulsive phenomenon. Such a situation is also suitable for the delay systems, which include some of the past states of the system. So far, there have been a lot of research results in the study of impulsive systems with delay both in finite and infinite dimensional spaces. In this paper, we investigate the periodicity of solutions to the nonautonomous impulsive evolution equations with infinite delay in Banach spaces, where the coefficient operators (possibly unbounded) in the linear part depend on the time, which are impulsive systems in infinite dimensional spaces and come from the optimal control theory. It was indicated that the study of periodic solutions for these impulsive evolution equations with infinite delay was challenging because the fixed point theorems requiring some compactness conditions are not applicable to them due to the impulsive condition and the infinite delay. We are happy to report that after detailed analysis, we are able to combine the techniques developed in our previous papers, and some new ideas in this paper, to attack these impulsive evolution equations and derive periodic solutions. More specifically, by virtue of the related transition operator family (evolution family), we present a Poincaré operator given by the nonautonomous impulsive evolution system with infinite delay, and then show that the operator is a condensing operator with respect to Kuratowski's measure of non-compactness in a phase space by using an Amann's lemma. Finally, we derive periodic solutions from bounded solutions in view of the Sadovskii fixed point theorem. We also present a relationship between the boundedness and the periodicity of the solutions of the nonautonomous impulsive evolution system. The new results obtained here extend some earlier results in this area for evolution equations without impulsive conditions or without infinite delay.

Keywords: impulsive, nonautonomous evolution equation, optimal control, periodic solution

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2188 Counselling Families with Special Needs Children: Problems and Prospect: A Case Study of Calabar Metropolis in Cross River State

Authors: Anthonia Emmanuel Inaja

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The role of the counseling services by Special Educators, Guidance Counsellors and psychologists alike to Families and Parents of children with special needs cannot be over-emphasized. This paper examined the vital role of counseling services and its impact on the emotional and physical readiness of parents to initiate and support the education and rehabilitation needs of their children. The paper considered the importance of counseling, when counseling services are best required preparing the mindset of parents and family members as well as the immediate community of the social needs child.

Keywords: counseling, families, special, needs, children, problems, prospect

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2187 Generating Links That Are Both Quasi-Alternating and Almost Alternating

Authors: Hamid Abchir, Mohammed Sabak2

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We construct an infinite family of links which are both almost alternating and quasi-alternating from a given either almost alternating diagram representing a quasi-alternating link, or connected and reduced alternating tangle diagram. To do that we use what we call a dealternator extension which consists in replacing the dealternator by a rational tangle extending it. We note that all non-alternating and quasi-alternating Montesinos links can be obtained in that way. We check that all the obtained quasi-alternating links satisfy Conjecture 3.1 of Qazaqzeh et al. (JKTR 22 (6), 2013), that is the crossing number of a quasi-alternating link is less than or equal to its determinant. We also prove that the converse of Theorem 3.3 of Qazaqzeh et al. (JKTR 24 (1), 2015) is false.

Keywords: quasi-alternating links, almost alternating links, tangles, determinants

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2186 Structure, Bioinformatics Analysis and Substrate Specificity of a 6-Phospho-β-Glucosidase Glycoside Hydrolase 1 Enzyme from Bacillus licheniformis

Authors: Wayde Veldman, Ozlem T. Bishop, Igor Polikarpov

Abstract:

In bacteria, mono and disaccharides are phosphorylated during uptake into the cell via the widely used phosphoenolpyruvate (PEP)-dependent phosphotransferase transport system. As an initial step in the phosphorylated disaccharide metabolism pathway, certain glycoside hydrolase family 1 (GH1) enzymes play a crucial role in releasing phosphorylated and non-phosphorylated monosaccharides. However, structural determinants for the specificity of these enzymes still need to be clarified. GH1 enzymes are known to have a wide array of functions. According to the CAZy database, there are twenty-one different enzymatic activities in the GH1 family. Here, the structure and substrate specificity of a GH1 enzyme from Bacillus licheniformis, hereafter known as BlBglH, was investigated. The sequence of the enzyme BlBglH was compared to the sequences of other characterized GH1 enzymes using sequence alignment, sequence identity calculations, phylogenetic analysis, and motif discovery. Through these various analyses, BlBglH was found to have sequence features characteristic of the 6-phospho-β-glucosidase activity enzymes. Additionally, motif and structure comparisons of the three most commonly studied GH1 enzyme-activities revealed a shared loop amongst the different structures that consist of different sequence motifs – this loop is thought to guide specific substrates (depending on activity) towards the active-site. To further affirm BlBglH enzyme activity, molecular docking and molecular dynamics simulations were performed. Docking was carried out using 6-phospho-β-glucosidase enzyme-activity positive (p-Nitrophenyl-beta-D-glucoside-6-phosphate) and negative (p-Nitrophenyl-beta-D-galactoside-6-phosphate) control ligands, followed by 400 ns molecular dynamics simulations. The positive-control ligand maintained favourable interactions within the active site until the end of the simulation. The negative-control ligand was observed exiting the enzyme at 287 ns. Binding free energy calculations showed that the positive-control complex had a substantially more favourable binding energy compared to the negative-control complex. Jointly, the findings of this study suggest that the BlBglH enzyme possesses 6-phospho-β-glucosidase enzymatic activity.

Keywords: 6-P-β-glucosidase, glycoside hydrolase 1, molecular dynamics, sequence analysis, substrate specificity

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2185 Technological Developments to Reduce Wind Blade Turbine Levelized Cost of Energy

Authors: Pedro Miguel Cardoso Carneiro, Ricardo André Nunes Borges, João Pedro Soares Loureiro, Hermínio Maio Graça Fernandes

Abstract:

Wind energy has been exponentially growing over the last years and will allow countries to progress regarding the decarbonization objective. In parallel, the maintenance activities have also been increasing in consequence of ageing and deterioration of the wind farms. The time available for wind blade maintenance is given by the weather window that is based upon weather conditions. Most of the wind blade repair and maintenance activities require a narrow window of temperature and humidity. Due to this limitation, the current weather windows result only on approximately 35% days/year are used for maintenance, that takes place mostly during summertime. This limitation creates large economic losses in the energy production of the wind towers, since they can be inoperative or with the energy production output reduced for days or weeks due to existing damages. Another important aspect is that the maintenance costs are higher due to the high standby time and seasonality imposed on the technicians. To reduce the relevant maintenance costs of blades and energy loses some technological developments were carried out to significantly improve this reality. The focus of this activity was to develop a series of key developments to have in the near future a suspended access equipment that can operate in harsh conditions, wind rain, cold/hot environment. To this end we have identified key areas that need to be revised and require new solutions to be found; a habitat system, multi-configurable roof and floor, roof and floor interface to blade, secondary attachment solutions to the blade and to the tower. On this paper we will describe the advances produced during a national R&D project made in partnership with an end-user (Onrope) and a test center (ISQ).

Keywords: wind turbine maintenance, cost reduction, technological innovations, wind turbine blade

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2184 Case Report: Treatment Resistant Schizophrenia in an Immigrant Adolescent

Authors: Omaymah Al-Otoom, Rajesh Mehta

Abstract:

Introduction: Migration is an established risk factor in the development of schizophrenia and other forms of psychosis. The exposure to different social adversities, including social isolation, discrimination, and economic stress, is thought to contribute to elevated rates of psychosis in immigrants and their children. We present a case of resistant schizophrenia in an immigrant adolescent. Case: The patient is a 15-year-old male immigrant. In October 2021, the patient was admitted for irritability, suicidal ideations, and hallucinations. He was treated with Fluoxetine 10 mg daily for irritability. In November 2021, he presented with similar manifestations. Fluoxetine was discontinued, and Risperidone 1 mg at bedtime was started for psychotic symptoms. In March 2022, he presented with commanding auditory hallucinations (voices telling him that people were going to kill his father). Risperidone was gradually increased to 2.5 mg twice daily for hallucinations. The outpatient provider discontinued Risperidone and started Olanzapine 7.5 mg and Lurasidone 40 mg daily. In August 2022, he presented with worsening paranoia due to medication non-adherence. The patient had limited improvement on medications. In October 2022, the patient presented to the ED for visual hallucinations and aggression towards the family. His medications were Olanzapine 10 mg daily, Lurasidone 60 mg daily, and Haloperidol 2.5 mg twice daily. In the ED, he received multiple as-needed medications and was placed in seclusion for his aggressive behavior. The patient showed a positive response to a higher dose of Olanzapine and decreased dose of Lurasidone. The patient was discharged home in stable condition. Two days after discharge, he was brought for bizarre behavior, visual hallucinations, and homicidal ideations at school. Due to concerns for potential antipsychotic side effects and poor response, Lurasidone and Olanzapine were discontinued, and he was discharged home on Haloperidol 5 mg in the morning and 15 mg in the evening. Clozapine treatment was recommended on an outpatient basis. He has no family history of psychotic disorders. He has no history of substance use. A medical workup was done, the electroencephalogram was normal, and the urine toxicology was negative. Discussion: Our patient was on three antipsychotics at some point with no improvement in his psychotic symptoms, which qualifies as treatment-resistant schizophrenia (TRP). It is well recognized that migrants are at higher risk of different psychiatric disorders, including posttraumatic stress disorder, affective disorders, schizophrenia, and psychosis. This is thought to be related to higher exposure to traumatic life events compared to the general population. In addition, migrants are more likely to experience poverty, separation from family members, and discrimination which could contribute to mental health issues. In one study, they found that people who migrated before the age of 18 had twice the risk of psychotic disorders compared to the native-born population. It is unclear whether migration increases the risk of treatment resistance. In a Canadian study, neither ethnicity nor migrant status was associated with treatment resistance; however, this study was limited by its small sample size. There is a need to implement psychiatric prevention strategies and outreach programs through research to mitigate the risk of mental health disorders among immigrants.

Keywords: psychosis, immigrant, adolescent, treatment resistant schizophrenia

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2183 The Inception: A University-Wide Research on Alcohol Consumption

Authors: Robi Lou Logarta, Meliz Ann Marilag, Kristyl Lee Nisnisan, Felipe Lula Jr.

Abstract:

Nowadays, alcohol is consumed widely around the globe for plenty of reasons. College years are the time that the students really decide if whether they will or will not engage into alcohol, although alcohol drinking begins before students arrive at college. The reasons on why college students consume alcohol vary in many categories. The norms on alcohol drinking are addiction, emotional pain reliever, popularity purposes, socialization, and a medium of euphoria for most students; college students in particular are most likely to feel this need. After tons of requirements to be complied and courses to be reviewed, they felt a need for celebration and relaxation which ends up in drinking with college mates and a few old friends. A lot of reasons consist the consumption of alcohol and this research determined the reasons behind the students’ onset for alcohol consumption; the main reason for such action and the experiences they encountered after in-take, furthermore, the correlation of alcohol drinking to the average allowance of the involved participants; Mindanao State University-Iligan Institute of Technology Students whether it affects their spending towards alcohol or not. This study assumes that alcohol drinking for MSU-IIT students’ is done to relieve emotional pain caused by flunking in particular subjects as well as dealing with romance, as part of the student body, these acts are noticeable enough which made this hypothesis be formulated. Selected MSU-IIT students were asked about their opinions regarding reasons of alcohol consumption. There were 100 respondents consisting of first year to fifth-year students aging 17-23 years old. Choices were given to the students to mark their most favorable reason for drinking that is adult influence, curiosity, family/personal problems, peer pressure, stress. Using the bar and pie chart illustrations, the collected data was then analyzed and among the given choices, the result has invalidated the hypothesis. The outcome shows that curiosity is the topmost reason why students start to drink and not due to emotional pain. With this, another hypothesis is formulated stating that millennial is a curious generation; this generation has changed the norm of drinking. One of the characteristics of the Y generation is being adventurous which correlates to how they get curious about things and the same goes for alcohol consumption, compared to the latter, this generation can be considered early drinkers in this manner. Therefore, it is concluded that MSU-IIT students which are part of the generation Y are adventurous enough to try unfamiliar beverages to satisfy their curious minds.

Keywords: adult influence, curiosity, family/personal problems, peer pressure, stress

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2182 Experience in Caring for a Patient with Terminal Aortic Dissection of Lung Cancer and Paralysis of the Lower Limbs after Surgery

Authors: Pei-Shan Liang

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Objective: This article explores the care experience of a terminal lung cancer patient who developed lower limb paralysis after surgery for aortic dissection. The patient, diagnosed with aortic dissection during chemotherapy for lung cancer, faced post-surgical lower limb paralysis, leading to feelings of helplessness and hopelessness as they approached death with reduced mobility. Methods: The nursing period was from July 19 to July 27, during which the author, alongside the intensive care team and palliative care specialists, conducted a comprehensive assessment through observation, direct care, conversations, physical assessments, and medical record review. Gordon's eleven functional health patterns were used for a holistic evaluation, identifying four nursing health issues: "pain related to terminal lung cancer and invasive procedures," "decreased cardiac tissue perfusion due to hemodynamic instability," "impaired physical mobility related to lower limb paralysis," and "hopelessness due to the unpredictable prognosis of terminal lung cancer." Results: The medical team initially focused on symptom relief, administering Morphine 5mg in 0.9% N/S 50ml IVD q6h for pain management and continuing chemotherapy as prescribed. Open communication was employed to address the patient's physical, psychological, and spiritual concerns. Non-pharmacological interventions, including listening, caring, companionship, opioid medication, and distraction techniques like comfortable positioning and warm foot baths, were used to alleviate pain, reducing the pain score to 3 on the numeric rating scale and easing respiratory discomfort. The palliative care team was also involved, guiding the patient and family through the "Four Paths of Life," helping the patient achieve a good end-of-life experience and the family to experience a peaceful life. This process also served to promote the concept of palliative care, enabling more patients and families to receive high-quality and dignified care. The patient was encouraged to express inner anxiety through drawing or writing, which helped reduce the hopelessness caused by psychological distress and uncertainty about the disease's prognosis, as assessed by the Hospital Anxiety and Depression Scale, reaching a level of mild anxiety but acceptable without affecting sleep. Conclusion: What left a deep impression during the care process was the need for intensive care providers to consider the patient's psychological state, not just their physical condition, when the patient's situation changes. Family support and involvement often provide the greatest solace for the patient, emphasizing the importance of comfort and dignity. This includes oral care to maintain cleanliness and comfort, frequent repositioning to alleviate pressure and discomfort, and timely removal of invasive devices and unnecessary medications to avoid unnecessary suffering. The nursing process should also address the patient's psychological needs, offering comfort and support to ensure that they can face the end of life with peace and dignity.

Keywords: intensive care, lung cancer, aortic dissection, lower limb paralysis

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2181 Consumer Preferences Concerning Food from Carob: A Survey in Crete, Greece

Authors: Georgios A. Fragkiadakis, Antonia Psaroudaki, Theodora Mouratidou, Eirini Sfakianaki

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Research: The nutritional benefits of eating carob are many and important for the human organism, as it is a food rich in carbohydrates and low in fat and contains multiple nutrients, making it a "superfood". Within the framework of the project "Actions for the optimal utilization of the potential of carob in the Region of Crete" which is financed-supervised by the Region of Crete, a second-grade local self-government authority, with the collaboration of the University of Crete and of the Hellenic Mediterranean University, an online survey was carried out with the aim of evaluating dietary habits and views related to the consumption of carob and its products in a sample of local residents. Results and Conclusions: Of the 351 participants, 259 (73.8%) stated that they consume carob products, and 26.2% stated that they do not. Difficult access and limited availability of carob-food products (33.7%), high price (20.7%), and difficulties of use and preparation (15.2%) were cited as the main reasons for non-consumption. Other reasons, to a lesser extent, concern the taste, especially the sweet aftertaste of some products. Concerning the behavior and eating habits related to the consumption of carob products (n=259), 57.9% of the sample report that they buy carob products "sometimes"; 21.2% report "often"; 19.7% report "rarely", and a very small percentage of 1.2% report "constantly". With reference to the reasons for choosing carob products, the participants mention the main reason for their high nutritional value (51.7%), followed by 32.4% of nutritional claims and health claims, and the organoleptic characteristics (10.8%). Other positive factors are the final price of the product, the ease of use, and the respect for the local environment and producers. Some bakery products show the highest percentage of consumption among carob-food consumers, mainly in the form of rusks (86.1%) and breadsticks (70.3%). They are followed, in descending order, by bread (63.3%), toast (52.1%), and flour (50.6%). More specifically: 40.5% consume carob rusks less than once a month; 22% consume less than once a week; up to twice a week 12.4%; 6.6%, consume rusks 3 to 4 times a week, and daily 3.9%. It is worth mentioning that a high percentage of consumers of carob products recommend the consumption to their family and friends. Only a small percentage, in the range of 5%, does not recommend the consumption of carob products in their close family/social circle. The main motivating factors for the consumption of carob products are the expected effects they may have on health (74.1%) and the organoleptic characteristics with a percentage of 21.6%.

Keywords: food, consumer, preferences, carob, Crete, Greece

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2180 Biological Methods to Control Parasitic Weed Phelipanche ramosa L. Pomel in the Field Tomato Crop

Authors: F. Lops, G. Disciglio, A. Carlucci, G. Gatta, L. Frabboni, A. Tarantino, E. Tarantino

Abstract:

Phelipanche ramosa L. Pomel is a root holoparasitic weed plant of many cultivations, particularly of tomato (Lycopersicum esculentum L.) crop. In Italy, Phelipanche problem is increasing, both in density and in acreage. The biological control of this parasitic weed involves the use of living organisms as numerous fungi and bacteria that can infect the parasitic weed, while it may improve the crop growth. This paper deals with the biocontrol with microorganism, including Arbuscular mycorrhizal (AM) fungi and fungal pathogens as Fusarium oxisporum spp. Colonization of crop roots by AM fungi can provide protection of crops against parasitic weeds because of a reduction in their seed germination and attachment, while F. oxisporum, isolated from diseased broomrape tubercles, proved to be highly virulent on P. ramosa. The experimental trial was carried out in open field at Foggia province (Apulia Region, Southern Italy), during the spring-summer season 2016, in order to evaluate the effect of four biological treatments: AM fungi and Fusarium oxisporum applied in the soil alone or combined together, and Rizosum Max® product, compared with the untreated control, to reduce the P. ramosa infestation in processing tomato crop. The principal results to be drawn from this study under field condition, in contrast of those reported previously under laboratory and greenhouse conditions, show that both AM fungi and F. oxisporum do not provide the reduction of the number of emerged shoots of P. ramosa. This can arise probably from the low efficacy seedling of the agent pathogens for the control of this parasite in the field. On the contrary, the Rizosum Max® product, containing AM fungi and some rizophere bacteria combined with several minerals and organic substances, appears to be most effective for the reduction of P. ramosa infestation.

Keywords: Arbuscular mycorrhized fungi, biocontrol methods, Phelipanche ramosa, tomato crop

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2179 Exclusive Breastfeeding Abandonment among Adolescent Mothers: A Cohort Study

Authors: Maria I. Nuñez-Hernández, Maria L. Riesco

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Background: Exclusive breastfeeding (EBF) up to 6 months old infant have been considered one of the most important factors in the overall development of children. Nevertheless, as resources are scarce, it is essential to identify the most vulnerable groups that have major risk of EBF abandonment, in order to deliver the best strategies. Children of adolescent mothers are within these groups. Aims: To determine the EBF abandonment rate among adolescent mothers and to analyze the associated factors. Methods: Prospective cohort study of adolescent mothers in the southern area of Santiago, Chile, conducted in primary care services of public health system. The cohort was established from 2014 to 2015, with a sample of 105 adolescent mothers and their children at 2 months of life. The inclusion criteria were: adolescent mother from 14 to 19 years old; not twin babies; mother and baby leaving the hospital together after birthchild; correct attachment of the baby to the breast; no difficulty understanding the Spanish language or communicating. Follow-up was performed at 4 and 6 months old infant. Data were collected by interviews, considering EBF as breastfeeding only, without adding other milk, tea, juice, water or other product that not breast milk, except drugs. Data were analyzed by descriptive and inferential statistics, by Kaplan-Meier estimator and Log-Rank test, admitting the probability of occurrence of type I error of 5% (p-value = 0.05). Results: The cumulative EBF abandonment rate at 2, 4 and 6 months was 33.3%, 52.2% and 63.8%, respectively. Factors associated with EBF abandonment were maternal perception of the quality of milk as poor (p < 0.001), maternal perception that the child was not satisfied after breastfeeding (p < 0.001), use of pacifier (p < 0.001), maternal consumption of illicit drugs after delivery (p < 0.001), mother return to school (p = 0.040) and presence of nipple trauma (p = 0.045). Conclusion: EBF abandonment rate was higher in the first 4 months of life and is superior to the population of women who breastfeed. Among the EBF abandonment factors, one of them is related to the adolescent condition, and two are related to the maternal subjective perception.

Keywords: adolescent, breastfeeding, midwifery, nursing

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2178 Sociocultural Context of Pain Management in Oncology and Palliative Nursing Care

Authors: Andrea Zielke-Nadkarni

Abstract:

Pain management is a question of quality of life and an indicator for nursing quality. Chronic pain which is predominant in oncology and palliative nursing situations is perceived today as a multifactorial, individual emotional experience with specific characteristics including the sociocultural dimension when dealing with migrant patients. This dimension of chronic pain is of major importance in professional nursing of migrant patients in hospices or palliative care units. Objectives of the study are: 1. To find out more about the sociocultural views on pain and nursing care, on customs and nursing practices connected with pain of both Turkish Muslim and German Christian women, 2. To improve individual and family oriented nursing practice with view to sociocultural needs of patients in severe pain in palliative care. In a qualitative-explorative comparative study 4 groups of women, Turkish Muslims immigrants (4 from the first generation, 5 from the second generation) and German Christian women of two generations (5 of each age group) of the same age groups as the Turkish women and with similar educational backgrounds were interviewed (semistructured ethnographic interviews using Spradley, 1979) on their perceptions and experiences of pain and nursing care within their families. For both target groups the presentation will demonstrate the following results in detail: Utterance of pain as well as “private” and “public” pain vary within different societies and cultures. Permitted forms of pain utterance are learned in childhood and determine attitudes and expectations in adulthood. Language, especially when metaphors and symbols are used, plays a major role for misunderstandings. The sociocultural context of illness may include specific beliefs that are important to the patients and yet seem more than far-fetched from a biomedical perspective. Pain can be an influential factor in family relationships where respect or hierarchies do not allow the direct utterance of individual needs. Specific resources are often, although not exclusively, linked to religious convictions and are significantly helpful in reducing pain. The discussion will evaluate the results of the study with view to the relevant literature and present nursing interventions and instruments beyond medication that are helpful when dealing with patients from various socio-cultural backgrounds in painful end-oflife situations.

Keywords: pain management, migrants, sociocultural context, palliative care

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2177 Date Palm Insects and Mite Pests at Biskra Oasis, South Algeria

Authors: N. Tarai, S. Seighi, S. Doumandji

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The date palm trees Phoenix dactylifera L. are subject to infestation with a variety of insect pests and mite associated, the Carob moth Ectomyelois ceatoniae (Zeller)(Lepidoptera, Pyralidae) is a key pest. Survey of the insect and mite pests associated with date palm trees in the seven stations at Biskra Oasis, throughout two successive years, from October 2011 until September 2012 revealed twelve insect pests belonging to ten families and six orders in addition to one mite belonging to one family from order Acari.

Keywords: date palm, insect, pests, infestation, mit, Biskra, Oasis

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2176 Semi-pilot Biooxidation of Refractory Sulfide-Gold Ore Using Ferroplasma Acidophilum: D-(+)-Sucsore as a Booster and Columns Tests

Authors: Mohammad Hossein Karimi Darvanjooghi, Sara Magdouli, Satinder Kaur Brar

Abstract:

It has been reported that the microorganism’s attachment to the surfaces of ore samples is a key factor that influences the biooxidation in pretreatment for recovery of gold in sulfide-bearing ores. In this research, the implementation of D-(+)-Sucrose on the biooxidation of ore samples were studied in a semi-pilot experiment. The experiments were carried out in five separate jacketed columns (1 m height and 6 cm diameter) at a constant temperature of 37.5 ̊C and saturated humidity. The airflow rate and recycling solution flow rate were studied in the research and the optimum operating condition were reported. The ore sample (0.49 ppm gold grade) was obtained from the Hammond Reef mine site containing 15 wt.% of pyrite which included 98% of gold according to the results of micrograph images. The experiments were continued up to 100 days while air flow rates were chosen to be 0.5, 1, 1.5, 2, and 3 lit/min and the recycling solution (Containing 9K media and 0.4 wt.% D-(+)-Sucrose) flow rates were kept 5, 8, 15 ml/hr. The results indicated that the addition of D-(+)-Sucrose increased the bacterial activity due to the overproduction of extracellular polymeric substance (EPS) up to 95% and for the condition that the recycling solution and air flow rate were chosen to be 8 ml/hr and 2 lit/min, respectively, the maximum pyrite dissolution of 76% was obtained after 60 days. The results indicated that for the air flow rates of 0.5, 1, 1.5, 2, and 3 lit/min the ratio of daily pyrite dissolution per daily solution lost were found to be 0.025, 0.033, 0.031, 0.043, and 0.009 %-pyrite dissolution/ml-lost. The implementation of this microorganisms and the addition of D-(+)-Sucrose will enhance the efficiency of gold recovery through faster biooxidation process and leads to decrease in the time and energy of operation toward desired target; however, still other parameters including particle size distribution, agglomeration, aeration design, chemistry of recycling solution need to be controlled and monitored for reaching the optimum condition.

Keywords: column tests, biooxidation, gold recovery, Ferroplasma acidophilum, optimization

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2175 An Extended Inverse Pareto Distribution, with Applications

Authors: Abdel Hadi Ebraheim

Abstract:

This paper introduces a new extension of the Inverse Pareto distribution in the framework of Marshal-Olkin (1997) family of distributions. This model is capable of modeling various shapes of aging and failure data. The statistical properties of the new model are discussed. Several methods are used to estimate the parameters involved. Explicit expressions are derived for different types of moments of value in reliability analysis are obtained. Besides, the order statistics of samples from the new proposed model have been studied. Finally, the usefulness of the new model for modeling reliability data is illustrated using two real data sets with simulation study.

Keywords: pareto distribution, marshal-Olkin, reliability, hazard functions, moments, estimation

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2174 Familial Exome Sequencing to Decipher the Complex Genetic Basis of Holoprosencephaly

Authors: Artem Kim, Clara Savary, Christele Dubourg, Wilfrid Carre, Houda Hamdi-Roze, Valerie Dupé, Sylvie Odent, Marie De Tayrac, Veronique David

Abstract:

Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from the incomplete separation of the two cerebral hemispheres. It is characterized by a wide phenotypic spectrum and a high degree of locus heterogeneity. Genetic defects in 16 genes have already been implicated in HPE, but account for only 30% of cases, suggesting that a large part of genetic factors remains to be discovered. HPE has been recently redefined as a complex multigenic disorder, requiring the joint effect of multiple mutational events in genes belonging to one or several developmental pathways. The onset of HPE may result from accumulation of the effects of multiple rare variants in functionally-related genes, each conferring a moderate increase in the risk of HPE onset. In order to decipher the genetic basis of HPE, unconventional patterns of inheritance involving multiple genetic factors need to be considered. The primary objective of this study was to uncover possible disease causing combinations of multiple rare variants underlying HPE by performing trio-based Whole Exome Sequencing (WES) of familial cases where no molecular diagnosis could be established. 39 families were selected with no fully-penetrant causal mutation in known HPE gene, no chromosomic aberrations/copy number variants and without any implication of environmental factors. As the main challenge was to identify disease-related variants among a large number of nonpathogenic polymorphisms detected by WES classical scheme, a novel variant prioritization approach was established. It combined WES filtering with complementary gene-level approaches: transcriptome-driven (RNA-Seq data) and clinically-driven (public clinical data) strategies. Briefly, a filtering approach was performed to select variants compatible with disease segregation, population frequency and pathogenicity prediction to identify an exhaustive list of rare deleterious variants. The exome search space was then reduced by restricting the analysis to candidate genes identified by either transcriptome-driven strategy (genes sharing highly similar expression patterns with known HPE genes during cerebral development) or clinically-driven strategy (genes associated to phenotypes of interest overlapping with HPE). Deeper analyses of candidate variants were then performed on a family-by-family basis. These included the exploration of clinical information, expression studies, variant characteristics, recurrence of mutated genes and available biological knowledge. A novel bioinformatics pipeline was designed. Applied to the 39 families, this final integrated workflow identified an average of 11 candidate variants per family. Most of candidate variants were inherited from asymptomatic parents suggesting a multigenic inheritance pattern requiring the association of multiple mutational events. The manual analysis highlighted 5 new strong HPE candidate genes showing recurrences in distinct families. Functional validations of these genes are foreseen.

Keywords: complex genetic disorder, holoprosencephaly, multiple rare variants, whole exome sequencing

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