Search results for: genetic counselling

Authors: Agi Sunday

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A descriptive analysis of reported cases of sickle cell disease and the level of awareness about genetic counselling in 30 hospitals were carried out. Additionally, 150 individuals between ages 16-45 were randomly selected for evaluation of genetic counselling awareness. The main tools for this study were questionnaires which were taken to hospitals, and individuals completed the others. The numbers of reported cases of sickle cell disease recorded in private, public and teaching hospitals were 14 and 57; 143 and 89; 272 and 57 for the periods of 1995-2000 and 2001-2005, respectively. A general informal genetic counselling took place mostly in the hospitals visited. 122 (86%) individuals had the knowledge of genetic disease and only 43 (30.3%) individuals have been exposed to genetic counselling. 64% of individuals agreed that genetic counselling would help in the prevention of genetic disease.

Keywords: sickle disease, genetic counseling, genetic testing, advocacy

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Authors: Girija Madhavanprabhakaran, Frincy Franacis, Sheeba Elizabeth John

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Introduction: A wide range of prenatal genetic screening is introduced with increasing incidences of congenital anomalies even in low-risk pregnancies and is an emerging standard of care. Being frontline caretakers, the role and responsibilities of nurses and midwives are critical as they are working along with couples to provide evidence-based supportive educative care. The increasing genetic disorders and advances in prenatal genetic screening with limited genetic counselling facilities urge nurses and midwifery nurses with essential competencies to help couples to take informed decision. Objective: This integrative literature review aimed to explore nurse midwives’ knowledge and role in prenatal screening and genetic counselling competency and the challenges faced by them to cater to all pregnant women to empower their autonomy in decision making and ensuring psychological comfort. Method: An electronic search using keywords prenatal screening, genetic counselling, prenatal counselling, nurse midwife, nursing education, genetics, and genomics were done in the PUBMED, SCOPUS and Medline, Google Scholar. Finally, based on inclusion criteria, 8 relevant articles were included. Results: The main review results suggest that nurses and midwives lack essential support, knowledge, or confidence to be able to provide genetic counselling and help the couples ethically to ensure client autonomy and decision making. The majority of nurses and midwives reported inadequate levels of knowledge on genetic screening and their roles in obtaining family history, pedigrees, and providing genetic information for an affected client or high-risk families. The deficiency of well-recognized and influential clinical academic midwives in midwifery practice is also reported. Evidence recommended to update and provide sound educational training to improve nurse-midwife competence and confidence. Conclusion: Overcoming the challenges to achieving informed choices about fetal anomaly screening globally is a major concern. Lack of adequate knowledge and counselling competency, communication insufficiency, need for education and policy are major areas to address. Prenatal nurses' and midwives’ knowledge on prenatal genetic screening and essential counselling competencies can ensure services to the majority of pregnant women around the globe to be better-informed decision-makers and enhances their autonomy, and reduces ethical dilemmas.

Keywords: challenges, genetic counselling, prenatal screening, prenatal counselling

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Authors: Kjellgren Maria, Lilliehorn Sara, Markström Urban

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This article describes the counselling practice of school social workers (SSWs) with individual children. SSWs work in the school system’s pupil health team, whose primary task is health promotion and prevention. The work of SSWs is about helping children and adolescents who, for various reasons, suffer from mental ill-health, school absenteeism, or stress that make them unable to achieve their intended goals. SSWs preferably meet these children in individual counselling sessions. The aim of this article is to describe and analyse SSWs’ experience of counselling with children and to examine the characteristics of counselling practice. The data collection was conducted through four semi-structured focus group interviews with a total of 22 SSWs in four different regions in Sweden. SSWs provide counselling to children in order to bring about improved feelings or behavioural changes. It can be noted that SSWs put emphasis on both the counselling process and the alliance with the child. The interviews showed a common practice among SSWs regarding the structure of the counselling sessions, with certain steps and approaches being employed. However, the specific interventions differed and were characterised by an eclectic standpoint in which SSWs utilise a broad repertoire of therapeutic schools and techniques. Furthermore, a relational perspective emerged as a most prominent focus for the SSWs by re-emerging throughout the material. We believe that SSWs could benefit from theoretical perspectives on ‘contextual model’ and ‘attachment theory’ as ‘models of the mind’. Being emotionally close to the child and being able to follow their development requires a lot from SSWs, as both professional caregivers and as “safe havens”.

Keywords: school social conselling, school social workers, contextual model, attachment thory

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Authors: A. S. Haruna, M. U. Tambawal, A. A. Salawu

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The psychological impact of peer influence on its individual group members, can make them resist HIV/AIDS counselling and testing. This study investigated the correlate of peer influence and resistance to HIV/AIDS counselling and testing among students in tertiary institutions in Kano state, Nigeria. To achieve this, three null hypotheses were postulated and tested. Cross-Sectional Survey Design was employed in which 1512 sample was selected from a student population of 104,841.Simple Random Sampling was used in the selection. A self-developed 20-item scale called Peer Influence and Psychological Resistance Inventory (PIPRI) was used for data collection. Pearson Product Moment Correlation (PPMCC) via test-retest method was applied to estimate a reliability coefficient of 0.86 for the scale. Data obtained was analyzed using t-test and PPMCC at 0.05 level of confidence. Results reveal 26.3% (397) of the respondents being influenced by their peer group, while 39.8% showed resistance. Also, the t-tests and PPMCC statistics were greater than their respective critical values. This shows that there was a significant gender difference in peer influence and a difference between peer influence and resistance to HIV/AIDS counselling and testing. However, a positive relationship between peer influence and resistance to HIV/AIDS counselling and testing was shown. A major recommendation offered suggests the use of reinforcement and social support for positive attitudes and maintenance of safe behaviour among students who patronize HIV/AIDS counselling.

Keywords: peer group influence, HIV/AIDS counselling and testing, psychological resistance, students

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Authors: F. N. Bolu-Steve, T. A. Ajiboye

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A study was carried out on the awareness of counselling needs of psychiatric patients as perceived by medical personnel in the Federal Neuropsychiatric hospital, Aro, Abeokuta, Nigeria. The respondents comprised of medical personnel of the Neuropsychiatric hospital in Aro. Purposive sampling technique was used to select the respondents. The target population of the study consisted of all medical doctors treating the psychiatric patients. A total of 200 respondents participated in the study out of which 143 were males and 57 of them were females. With their years of experience as a medical doctors, 49.5% of them have worked between 1-5 years, 30.5% of the respondents have 6-10 years’ experience while those with 16 years and above experience are 7.0%. The major counselling need of psychiatric patients as expressed by medical doctors is the need to have information about the right balance diet. The data were analyzed using percentages, mean, frequency, Analysis of Variance (ANOVA) and t-test statistical tools. The instrument used for data collection was the structured questionnaire titled “Counselling Needs of Psychiatric Patients Questionnaire” (CNPPQ). This instrument was drafted by the researchers through the review of related literature. The reliability of the instrument was established using test-retest method. A reliability index of 0.74 was obtained. Three of the hypotheses were rejected while two of them were accepted at 0.05 alpha level of significance. Based on the findings of the study, it was recommended that broad based counselling services should be provided to psychiatric patients in order to assist them to develop positive self- image and to cope with their challenges.

Keywords: counselling, needs, psychiatric, medical personnel, patients

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Authors: Matthew T. Wilson

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This paper covers a selection of research utilizing grammar-based genetic programming, and illustrates how context-free grammar can be used to constrain genetic programming. It focuses heavily on grammatical evolution, one of the most popular variants of grammar-based genetic programming, and the way its operators and terminals are specialized and modified from those in genetic programming. A variety of implementations of grammatical evolution for general use are covered, as well as research each focused on using grammatical evolution or grammar-based genetic programming on a single application, or to solve a specific problem, including some of the classically considered genetic programming problems, such as the Santa Fe Trail.

Keywords: context-free grammar, genetic algorithms, genetic programming, grammatical evolution

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Authors: Olusegun F. Adebowale

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Research has confirmed that the emergence of information technology is significantly reflected in the field of psychology and its related disciplines due to its widespread use at reasonable price and its user-friendliness. It is consequently affecting ordinary life in many areas like shopping, advertising, corresponding and educating. Specifically the innovations of computer technology led to several new forms of communication, all with implications and applicability for counselling and psychotherapy practices. This is premise on which online counselling is based. Most institutions of higher learning in Nigeria have established their presence on the Internet and have deployed a variety of applications through ICT. Some are currently attempting to include counselling services in such applications with the belief that many counselling needs of students are likely to be met. This study therefore explored different challenges and preferences students present in online counselling interaction in a given Nigerian university with the view to guide new universities that may want to invest into these areas as to necessary preparations and referral requirements. The study is a mixed method research incorporating qualitative and quantitative methodologies to sample the preferences and concerns students express in online interaction. The sample comprised all the 876 students who visited the university online counselling platform either voluntarily, by invitation or by referral. The instrument for data collection was the online counselling platform of the university 'OAU Online counsellors'. The period of data collection spanned between January 2011 and October 2012. Data were analysed quantitatively (using percentages and Mann-Whitney U test) and qualitatively (using Interpretative Phenomenological Analysis (IPA)). The results showed that the students seem to prefer real-time chatting as their online medium of communicating with the online counsellor. The majority of students resorted to e-mail when their effort to use real-time chatting were becoming thwarted. Also, students preferred to enter into online counselling relationships voluntarily to other modes of entry. The results further showed that the prevalent counselling needs presented by students during online counselling sessions were mainly in the areas of social interaction and academic/educational concerns. Academic concerns were found to be prevalent, in form of course offerings, studentship matters and academic finance matters. The personal/social concerns were in form of students’ welfare, career related concerns and relationship matters. The study concludes students’ preferences include voluntary entry into online counselling, communication by real-time chatting and a specific focus on their academic concerns. It also recommends that all efforts should be made to encourage students’ voluntary entry into online counselling through reliable and stable internet infrastructure that will be able to support real-time chatting.

Keywords: online, counselling, needs, preferences

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Authors: Zuwaira Abdullahi

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In this increasing changing world, it is important to be aware of the needs of clients when it comes to race and ethnic diversities. These diversities create difficulties for multicultural counselling: the counsellor’s own culture, attitudes, and theoretical perspective; the client's culture; and the multiplicity of variables comprising an individual's identity. This paper examines the level of realization, sensitization and attitude of counsellors towards individuals that come from different cultural, social and economic background.

Keywords: multicultural, diversities, counselling, needs

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Authors: Baloyi Gift Tlharihani

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This paper explores the relationship between pastoral care and counselling and psychology. It will critically review the variety of views and debates regarding this relationship while acknowledging the different sides of the debates on the sameness and difference of these notions, this paper argues for the inevitable interconnectedness of the two. There has always been a close relationship, between pastoral care and counselling and psychology, although these are two totally different notions. Even though pastoral care and counselling are thought of as more spiritually focused and psychology with emotional and mental challenges, the components that connect these two sciences are represented by the care of human being. Therefore, this paper is interested in the interconnectedness of these two science as they both makes a vital contribution to human caring. It indicates that whether we take the dualistic difference between the body and soul, the trichotomous difference between the body, soul and spirit, our essential nature is found in the unity of those constituent elements.

Keywords: anthropology, human care, pastoral care and counseling, psychology

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Authors: Amy Gooden, Meshandren Naidoo

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Genetic research is not confined to a particular jurisdiction. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

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Authors: Sikander Singh Cheema, Jasmeen Kaur

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In this paper, the concept of data mining is summarized and its one of the important process i.e KDD is summarized. The data mining based on Genetic Algorithm is researched in and ways to achieve the data mining Genetic Algorithm are surveyed. This paper also conducts a formal review on the area of data mining tasks and genetic algorithm in various fields.

Keywords: data mining, KDD, genetic algorithm, descriptive mining, predictive mining

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Authors: Ramona Moldovan, Doina Cosman, Sebastian Moldovan, Radu Popp, Victor Pop

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MENTALICA is a project aimed at developing and evaluating a platform that can assist individuals diagnosed with severe mental disorders and their families in managing the consequences associated with severe mental disorders, recurrence risks, prevention strategies and treatment options. MENTALICA is a platform based on guidance issued by some of the most prominent scientific organizations in the world. In order to personalize the information provided, the program explores details about the personal and family history of mental disorders. MENTALICA summarizes the answers and gives respondents a personal assessment. This includes personalized information and support about schizophrenia, bipolar disorder and schizoaffective disorder. MENTALICA includes several modules: Family history tools, Risk assessment tools and Risk factor sheets, Practical guides for patients, Practical guides for families, Guidelines for clinicians. Currently, there are no available guidelines for genetic counselling for mental disorders. Respondents can print out their reports and discuss them with family members or their doctors. We will briefly present the current status of MENTALICA and its implications for patients, professionals and the community.

Keywords: genetic counseling, mental disorders, platform

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Authors: Fariborz Ahmadi, Reza Tati

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Genetic algorithm is a soft computing method that works on set of solutions. These solutions are called chromosome and the best one is the absolute solution of the problem. The main problem of this algorithm is that after passing through some generations, it may be produced some chromosomes that had been produced in some generations ago that causes reducing the convergence speed. From another respective, most of the genetic algorithms are implemented in software and less works have been done on hardware implementation. Our work implements genetic algorithm in hardware that doesn’t produce chromosome that have been produced in previous generations. In this work, most of genetic operators are implemented without producing iterative chromosomes and genetic diversity is preserved. Genetic diversity causes that not only do not this algorithm converge to local optimum but also reaching to global optimum. Without any doubts, proposed approach is so faster than software implementations. Evaluation results also show the proposed approach is faster than hardware ones.

Keywords: hardware, genetic algorithm, computer science, engineering

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Authors: M. F. Miah, A. Chakrabarty

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Two popular and highly valued fish, Stinging catfish (Heteropneustes fossilis) and Asian catfish (Clarias batrachus) are considered for observing genetic enhancement. Cross breeding was performed considering wild and farmed fish through inducing agent. Five RAPD markers were used to assess genetic diversity among parents and offspring of these two catfish for evaluating genetic enhancement in F1 generation. Considering different genetic data such as banding pattern of DNA, polymorphic loci, polymorphic information content (PIC), inter individual pair wise similarity, Nei genetic similarity, genetic distance, phylogenetic relationships, allele frequency, genotype frequency, intra locus gene diversity and average gene diversity of parents and offspring of these two fish were analyzed and finally in both cases higher genetic diversity was found in F1 generation than the parents.

Keywords: Heteropneustes fossilis, Clarias batrachus, cross breeding, genetic enhancement

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Authors: Swati Naruka

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"Looking after one’s mind is as important as looking after one’s body". As part of one’s overall health, mental and emotional health or well being is a necessary condition to enable one to manage one’s life successfully. Mental health is the capacity of an individual to form harmonious adjustments to one’s social and physical environments. Universities and colleges are dealing with substantial challenges posed by the changing mental health needs of today’s college students. It is important for administrators, faculty, and staff to understand the profound impact that mental health problems can have on all aspects of campus life, and to treat mental health issues as an institutional responsibility and priority. Counselling centres can respond effectively to the current challenges if they have the support and commitment of the administration; and if they take steps to balance the demand for services with existing resources by reviewing priorities, establishing appropriate limits, employing innovative strategies, and practicing good self-care to minimize stress and burnout. The need for counselling centres has never been greater. They will continue to play an important role in supporting the mission of higher education institutions by providing counselling for students who are experiencing problems and assisting them in achieving their educational and personal goals.

Keywords: mental health, well being, India, college students

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Authors: Harjyot Khosa

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In India and south Asia, stigma and discrimination against transgender community remain disproportionately high. Lack of mental health care restricts effective treatment and care for both physical and mental health. Knowledge assessment of 80 counsellors across India reflected that only 28% counsellors knew about the transgender community. Whereas, only 6% of them felt, that transgender community require a specific mental health support, considering the stigma they face in day to day life. Lastly, 62% did agree that they require specific training to address unmet needs of transgender community. A robust counselling module was developed with focus on technical counselling skills and strategies, specific counselling issues, identity and sexuality, disclosure, hormone therapy and sex reassignment surgery. Mental health related support should be an integral part of government and non-government programs for the overall well-being of transgender community who face stigma and discrimination at every level. Needs based capacity building and technical assistance is required towards providing mental health support for transgender populations and their partners.

Keywords: identity and sexuality, mental health, stigma, transgender

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Authors: Khaled Al-Najjar, Ahmad Q. Al-Momani, Ahmed Elnahas, Reda Elsaid

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The research was carried out using records of Awassi sheep bred in drylands at Al-Fjaj Station, Jordan. That aimed to study non-genetic factors affecting milk yield (MK), litter size at birth (LZB); estimate heritability, repeatability, and genetic and phenotypic correlation using SAS and MTDFREML programs. The results were as follows, the average MK and LZB were 92.84 (kg) and 1.16, respectively. MK was highly significantly affected by each parity, age of ewe, year of lambing, and lactation period, while only the year of lambing had a significant effect on LZB. The heritability and repeatability were 0.07 and 0.10 for MK, while it was 0.05 and 0.25 for LZB. The genetic and phenotypic correlations were 0.17 and 0.02 between MK and LZB, respectively. The research concluded that the herd is genetically homozygous and therefore needs to increase genetic variance by introducing LZB-improved rams and selecting females from dams who achieved at least four parties to increase returns in drylands.

Keywords: Awassi sheep, genetic parameters, litter size, milk yield

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Authors: Amy Gooden

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Despite its prevalence, direct-to-consumer genetic testing (DTC-GT) remains under-investigated in South Africa (SA), and the issue of regulation is yet to be examined. Therefore, this research maps the current legal landscape relating to DTC-GT in SA through a legal analysis of the extant law relevant to the industry and the issues associated therewith – with the intention of determining if and how DTC-GT is legally governed. This research analyses: whether consumers are legally permitted to collect their saliva; whether DTC-GT are medical devices; licensing, registering, and advertising; importing and exporting; and genetic research conducted by companies.

Keywords: direct-to-consumer genetic testing, genetic testing, health, law, regulation, South Africa

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Authors: Norezzine Abdelaziz, Rebouh Nazih Yacer, Kezimana Parfait, Parpura D. I., Gadzhikurbanov A., Anastasios Dranidis

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The genetic variation of Shvicezebuvides cattle from three different farms in the Tajikistan Republic was studied using 10 microsatellite markers (SSR). The trials were laid out using a multi- locus analysis system for the analysis of cattle microsatellite locus. An estimated genetic variability of the examined livestock is given in the article. The results of our SSR analysis as well as the numbers and frequencies of common alleles in studied samples, we established a high genetic similarity of studied samples. These results can also be furthermore useful in the decision making for preservation and rational genetic resources usage of the Tajik Shvicezebuvides cattle.

Keywords: genetic characteristic, frequencies of the occurrence alleles, microsatellite markers, Swiss cattle

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Authors: Mohammed Jamal Al-Mansor, Kok Beng Gan

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This paper develops an optimized embedding of payload in medical image by using genetic optimization. The goal is to preserve region of interest from being distorted because of the watermark. By using this developed system there is no need of manual defining of region of interest through experts as the system will apply the genetic optimization to select the parts of image that can carry the watermark with guaranteeing less distortion. The experimental results assure that genetic based optimization is useful for performing steganography with less mean square error percentage.

Keywords: AES, DWT, genetic algorithm, watermarking

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Authors: Aziz Zulazmi Samsudin, Siti Norhedayah Abdul Latif

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The lack of normalization of mental health as a conversational topic is becoming increasingly evident in certain cultures. The fact that students underutilize mental health services in schools can be attributed to the presence of various barriers that impede their willingness to seek for help. Stigma surrounding mental health services continue to be the most prevalent barrier for help seeking behavior. Alternative barriers have emerged that are both personal and public in nature that can have a substantial impact on students’ preference to seek for help in schools. A sequential explanatory study was carried out among 256 Muslim students in a school with dual education system in exploring both their Self-Stigma of Seeking Help (SSOSH) and Mental Health Help-Seeking Attitude (MHSA). In addition, 12 students were interviewed in a focus group setting to explore further the phenomena of help seeking approach by students to understand the initial quantitative analysis. Preliminary findings indicated that the students’ level of self-stigma was only moderate, but they had a favorable attitude towards counselling help. There was no significant difference on gender for both variables; however, the lower the self-stigma, the higher the mental help-seeking attitude for this current study, which is a common trend of relationship between the two variables. The interview revealed that, apart from public stigma, the absence of a qualified counsellor, a lack of ethical principles of counselling, a confidentiality issue, and the emotional openness of the students were identified as other barriers to their help-seeking attitudes. This paper also discussed the recommendation made by students in addressing barriers to counselling and facilitating their counselling needs for the improvement of students' mental and academic well-being. Additionally, this research offers the most recent data about mental health in the context of schools with a dual education system in Brunei Darussalam. It is hoped to serve as a guide for policy makers to consider the provision of mental health services that is more appealing to the students’ mental and academic well-being.

Keywords: mental health help-seeking attitude (MHSA), public stigma, school counselling, self-stigma, self-stigma of seeking help (SSOSH), well-being.

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Authors: Mustafa Yorgancılar, Emine Atalay, Necdet Akgün, Ali Topal

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In this study, polymerase chain reaction based Inter-simple sequence repeat (ISSR) from DNA fingerprinting techniques were used to investigate the genetic relationships among barley crossbreed genotypes in Turkey. It is important that selection based on the genetic base in breeding programs via ISSR, in terms of breeding time. 14 ISSR primers generated a total of 97 bands, of which 81 (83.35%) were polymorphic. The highest total resolution power (RP) value was obtained from the F2 (0.53) and M16 (0.51) primers. According to the ISSR result, the genetic similarity index changed between 0.64–095; Lane 3 with Line 6 genotypes were the closest, while Line 36 were the most distant ones. The ISSR markers were found to be promising for assessing genetic diversity in barley crossbreed genotypes.

Keywords: barley, crossbreed, genetic similarity, ISSR

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Authors: Farman Ali, Asif Mahmood

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

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

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Authors: Amy Gooden, Meshandren Naidoo

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Genetic research and transfers of big data are not confined to a particular jurisdiction, but there is a lack of clarity regarding the legal requirements for importing and exporting such data. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

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Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

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Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

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Authors: Ju-Chun Chien

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The Ottawa Charter for Health Promotion proposed that the role of health services should shift the focus from cure to prevention. Nowadays, besides having physical examinations, people could also conduct genetic tests to provide important information for diagnosing, treating, and/or preventing illnesses. However, because of the incompletion of the Chinese Genetic Database, people in Taiwan were still unfamiliar with genetic testing. The purposes of the present study were to: (1) Figure out people’s attitudes towards genetic testing. (2) Examine factors that influence people’s intention to pursue genetic testing by means of the Health Belief Model (HBM). A pilot study was conducted on 249 Taiwanese in 2017 to test the feasibility of the self-developed instrument. The reliability and construct validity of scores on the self-developed questionnaire revealed that this HBM-based questionnaire with 40 items was a well-developed instrument. A total of 542 participants were recruited and the valid participants were 535 (99%) between the ages of 20 and 86. Descriptive statistics, one-way ANOVA, two-way contingency table analysis, Pearson’s correlation, and stepwise multiple regression analysis were used in this study. The main results were that only 32 participants (6%) had already undergone genetic testing; moreover, their attitude towards genetic testing was more positive than those who did not have the experience. Compared with people who never underwent genetic tests, those who had gone for genetic testing had higher self-efficacy, greater intention to pursue genetic testing, had academic majors in health-related fields, had chronic and genetic diseases, possessed Catastrophic Illness Cards, and all of them had heard about genetic testing. The variables that best predicted people’s intention to pursue genetic testing were cues to action, self-efficacy, and perceived benefits (the three variables all correlated with one another positively at high magnitudes). To sum up, the HBM could be effective in designing and identifying the needs and priorities of the target population to pursue genetic testing.

Keywords: genetic testing, knowledge of GT, people in Taiwan, the health belief model

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Authors: Andy S.K. Cheng, Samuel Leung, Cindy Kwok, Hector Tsang

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Background: Telephone counselling is one of the essential interventions that can be found in most of the Employee Assistance Programs (EAP). The purposes of this study were to (1) explore the trend of the telephone counselling from 2003-2016 in Hong Kong; (2) explore which EAP issue requires more follow-up; and 3) examine the relationship between the EAP issues and demographic data such as gender and job ranking. Method: Date of EAP services usage was collected from EAP providers in Hong Kong during 2003-2016. EAP issues were categorized into two domains, namely workplace issues and personal issues. Each domain has 12 sub-categories. Two hypotheses were formulated in this study (1) there was a gender difference in EAP issues and the follow-up hours; and (2) there was a significant difference between job ranking, EAP issues and follow-up hours. Results: A total of eight hundred and ninety-three valid cases were identified for analysis. Of them, three hundred and forty-three cases sought for follow-up. The duration of follow-up by hours was calculated for each of the follow-up cases. The results of the study shows that the top three workplace issues that required the longest duration of follow-up were (1) workload, (2) supervisor-subordinate relationship; and (3) team member’s relationship. On the other hand, the top three personal issues that required the longest duration of follow-up were (1) parenting/parent-child relationship, (2) family care, and (3) marital relationship. Two-way ANOVA was performed to compare the total follow-up hours (excluding first intake) between gender and EAP issues. There was no statistical significance for gender (p =.891), but a statistically significant main effect for EAP issues (p <.001) was found. Post-hoc analysis (Tukey’s test) showed that total follow-up hour in personal issues was statistically significant higher than that in handling workplace issues (p <.001). However, there was no statistically significant interaction effect between gender and EAP issues (p=.879) and between job ranking and EAP issues (p=.843). Conclusion: Telephone counselling is a very common intervention in addressing EAP issues arising from workplace and personal level in Hong Kong. It was frequently used to handle interpersonal relationships and the service usage was independent of gender and job ranking.

Keywords: employee assistance program, follow-up time, interpersonal relationships, telephone counselling

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Authors: Li Dan, Zhao Junsuo, Zhang Wenjun

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Aiming at the shortcomings of the Quantum Genetic Algorithm such as the multimodal function optimization problems easily falling into the local optimum, and vulnerable to premature convergence due to no closely relationship between individuals, the paper presents an Improved Many Worlds Quantum Genetic Algorithm (IMWQGA). The paper using the concept of Many Worlds; using the derivative way of parallel worlds’ parallel evolution; putting forward the thought which updating the population according to the main body; adopting the transition methods such as parallel transition, backtracking, travel forth. In addition, the algorithm in the paper also proposes the quantum training operator and the combinatorial optimization operator as new operators of quantum genetic algorithm.

Keywords: quantum genetic algorithm, many worlds, quantum training operator, combinatorial optimization operator

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Authors: M. F. Miah, K. M. A. Zinnah, M. J. Raihan, H. Ali, M. N. Naser

Abstract:

As genetic diversity is most important for existing, breeding and production of any fish; this study was undertaken for investigating genetic diversity of freshwater mud eel, Monopterus cuchia at population level where three ecological populations such as flooded area of Sylhet (P1), open water of Moulvibazar (P2) and open water of Sunamganj (P3) districts of Bangladesh were considered. Four arbitrary RAPD primers (OPB-12, C0-4, B-03 and OPB-08) were screened and RAPD banding patterns were analyzed among the populations considering 15 individuals of each population. In total 174, 138 and 149 bands were detected in the populations of P1, P2 and P3 respectively; however, each primer revealed less number of bands in each population. 100% polymorphic loci were recorded in P2 and P3 whereas only one monomorphic locus was observed in P1, recorded 97.5% polymorphism. Different genetic parameters such as inter-individual pairwise similarity, genetic distance, Nei genetic similarity, linkage distances, cluster analysis and allelic information, etc. were considered for measuring genetic diversity. The average inter-individual pairwise similarity was recorded 2.98, 1.47 and 1.35 in P1, P2 and P3 respectively. Considering genetic distance analysis, the highest distance 1 was recorded in P2 and P3 and the lowest genetic distance 0.444 was found in P2. The average Nei genetic similarity was observed 0.19, 0.16 and 0.13 in P1, P2 and P3, respectively; however, the average linkage distance was recorded 24.92, 17.14 and 15.28 in P1, P3 and P2 respectively. Based on linkage distance, genetic clusters were generated in three populations where 6 clades and 7 clusters were found in P1, 3 clades and 5 clusters were observed in P2 and 4 clades and 7 clusters were detected in P3. In addition, allelic information was observed where the frequency of p and q alleles were observed 0.093 and 0.907 in P1, 0.076 and 0.924 in P2, 0.074 and 0.926 in P3 respectively. The average gene diversity was observed highest in P2 (0.132) followed by P3 (0.131) and P1 (0.121) respectively.

Keywords: genetic diversity, Monopterus cuchia, population, RAPD, Bangladesh

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Authors: Masoud Sheidaei, Fahimeh Koohdar

Abstract:

Date palms are economically important tree plants with high nutrition and medicinal values. More than 400 date palm cultivars are cultivated in many regions of Iran, but no report is available on landscape genetics and species distribution modeling of these trees from the country. Therefore, the present study provides a detailed insight into the genetic diversity and structure of date palm populations in Iran and investigates the effects of geographical and climatic variables on the structuring of genetic diversity in them. We used different computational methods in the study like, spatial principal components analysis (sPCA), redundancy analysis (RDA), latent factor mixed model (LFMM), and Maxent and Dismo models of species distribution modeling. We used a combination of different molecular markers for this study. The results showed that both global and local spatial features play an important role in the genetic structuring of date palms, and the genetic regions associated with local adaptation and climatic variables were identified. The effects of climatic change on the distribution of these taxa and the genetic regions adaptive to these changes will be discussed.

Keywords: adaptive genetic regions, genetic diversity, isolation by distance, populations divergence

Procedia PDF Downloads 72