Dissertations / Theses on the topic 'Genetic screening – Psychological aspects'
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Lesniak, Karen. "Psychological and Sociodemographic Predictors of Psychological Distress in BRCA1 and BRCA2 Genetic Testing Participants within a Community Based Genetic Screening Program." Thesis, University of North Texas, 2000. https://digital.library.unt.edu/ark:/67531/metadc2565/.
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Mutations in BRCA1 and BRCA2, the first two breast cancer susceptibility genes identified, carry as much as an 85% lifetime risk of developing breast, ovarian or other cancers. Genetic testing for mutations in these two genes has recently become commercially available. There have been varying amounts of psychological distress noted among women with a family history of breast cancer. Distress has been observed to impact psychological functioning, activities of daily living, and the practice of breast cancer surveillance behaviors. Within the genetic screening process, psychological distress has been shown to impact the decision to undergo genetic screening, the comprehension and retention of risk assessment information, as well as affecting the subject following the receipt of the genetic test results. Little work has been done to examine predictors of distress within at risk subjects. This study examines psychological distress among 52 community women presenting for BRCA1 and BRCA2 genetic mutation testing. Predictors of distress included family cancer history, education, age, Ashkenazi ethnicity, and Internality and Powerful Others Health Locus of Control. Vulnerable sub-groups of patients include younger women, women with higher levels of education and women of Ashkenazi ethnicity.
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Keenan, Lisa A. "Family Environment, Social Support, and Psychological Distress of Women Seeking BRCA1 and BRCA2 Genetic Mutation Testing." Thesis, University of North Texas, 2002. https://digital.library.unt.edu/ark:/67531/metadc3240/.
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Shared characteristics and predictors of psychological distress are beginning to be identified in research on women seeking genetic testing for BRCA1 and BRCA2 gene mutations. This study further explored patterns of psychological distress for 51 community women waiting to receive such genetic test results. There was no significant relationship between psychological distress and family cancer history, personal cancer history, social support networks, and family environment. Women in this sample tended to rely more on females and relatives for support than males and friends. Social support satisfaction was not related to gender or number of relatives providing support. Thirty-four of the 36 women classified on the family environment type were from Personal Growth-Oriented families. Comparisons with normal and distressed family means revealed increased cohesion and expressiveness with decreased conflict, indicative of supportive family environments. Limitations and implications are discussed.
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Elliott, Diana. "The impact of genetic counselling for familial breast cancer on women's psychological distress, risk perception and understanding of BRCA testing." University of Western Australia. School of Population Health, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0190.
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[Truncated abstract] Background: A review of the literature indicated there was a need for more long-term randomised controlled studies on the effects of BRCA counselling/testing on high risk women, including improved strategies for risk communication. Reviews have also shown women are confused about the significance of inconclusive or non informative results with a need for more research in this area. Aims: The general aim of this study was to evaluate the impact of breast cancer genetic counselling on psychological distress levels, perception of risk, genetic knowledge and understanding of BRCA testing/test results in a cohort of 207 women from high risk breast cancer families who were referred for genetic counselling in Perth during the period 1997 to 2001. Short- and long-term impact of BRCA genetic counselling/testing was determined in women with and without cancer in a randomised controlled trial as part of which women were randomised to either receive immediate versus delayed genetic counselling. This included family communication patterns before BRCA testing, anticipated outcomes of testing on oneself and family including intentions for result disclosure. Comprehension of index and predictive BRCA testing with possible results was assessed both in the short- and the long-term and understanding of individual or family BRCA test results was evaluated at long-term. The effect of genetic counselling on breast cancer risk perception in unaffected women was evaluated. This study considered a theoretical framework of educational learning theories to provide a basis for risk communication with possible relevance for future research. ... Only 25% of the original study population (52/207) reported BRCA results and women's understanding of results is concerning. Key findings were: 1. The majority of affected women received an inconclusive result. 2. Out of twelve unaffected women who reported results, seven were inconclusive which are not congruent with predictive testing. This implies that these women did not understand their test result. 3. A minority of untested relatives did not know whether a family mutation had or had not been found in their tested family member or what their actual test result was. This implies either a lack of disclosure or that woman did not understand the rationale for and significance of testing for a family mutation. 4. Three relatives did not understand a positive result was a mutation. Conclusion: The implication of this research for breast cancer counselling and testing services is that women who wait for counselling are no worse off in terms of short- or long-term general psychological distress than women who receive the intervention early. There is a suggestion that unaffected women without the disease found counselling more advantageous than affected women. The meaning of BRCA results as reported by women is concerning particularly women's understanding of negative and inconclusive results and further research is needed in this area. Too much information presented at counselling may affect women's comprehension of risk, BRCA testing and future test results and further research is required to evaluate the effects of information overload.
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Steggles, Naomi. "Psychological aspects of genetic testing for cancer." Thesis, University College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.271020.
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Marerro, Magaly V. (Magaly Victoria). "Primary Care Screening for Psychological Factors." Thesis, North Texas State University, 1986. https://digital.library.unt.edu/ark:/67531/metadc331793/.
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The Behavioral Medicine Questionnare (BMQ) is a 44- item instrument administered via a computer CRT display or pencil and paper. The BMQ was designed to help primary care physicians treating spinal disorders to screen for emotional factors which warrant further psychological evaluation. The test is composed of three scales: Anxiety, Depression, and Somatization. Concurrent validity for each scale was determined through comparisons with subject (n = 133) scores on clinician judgement ratings, pain drawings, and the MMPI. The psychometric properties of the test were supported through statistical analysis. Significant correlations were found between the BMQ, MMPI, and clinician ratings, with the latter showing relationships of lesser strength. The only significant correlation to subject generated pain drawings was to the BMQ depression scale. Analysis indicated the need for seperate norms for males and females. Further research is needed to facilitate measurement and interpretation of the BMQ.
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Lau, Yvonne, and n/a. "The enthusiasm for disease screening : an ethical critique with a sociological perspective." University of Otago. Dunedin School of Medicine, 2009. http://adt.otago.ac.nz./public/adt-NZDU20090121.085918.
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Screening is generally considered a useful strategy in the prevention of chronic diseases. The notion is that early detection through the use of certain screening tests can facilitate effective preventive measures to be undertaken which can then lead to improved prognosis from or ultimate avoidance of serious clinical diseases. The enthusiasm for screening in the United States is high and can be seen by the size of public demand for it. Rapid technological advances and knowledge expansion in the past decade have further facilitated the introduction of new tests and screening opportunities. In the mean time, the concept of screening has undergone subtle changes. Previous emphasis on clear and demonstrable population health benefits has been slowly replaced by an emphasis on individual responsibility for the surveillance of personal health risks. Disease screening is frequently advocated as part of a health promotion programme. As a clinician who has worked in breast cancer screening and who is wary of the complexities and problems associated with disease screening, my contention is that the enthusiasm for screening may not ultimately be conducive to health and well-being.
This thesis represents an effort to understand the popularity and enthusiasm for disease screening, how it has come about and, why it may not be conducive to health and well-being. The thesis begins with a description of the phenomenon to be followed by a detailed examination of the scientific principles behind disease screening. It then moves on to discover how the phenomenon might have come about by first considering the evolution of biomedicine over the centuries and then its present endeavour in the form of surveillance medicine as well as the latter�s relationship with today�s market economy. Using relevant case studies that involve, for example, cancer and prenatal genetic screening, this thesis explores different concerns relating to health and well-being, including such topics as the creation of health roles, the reconfiguration of human values and interpersonal relationships as well as medicalisation. A final chapter offers an account of health and well-being and sums up why the enthusiasm for screening may not be conducive to health and well-being.
The enthusiasm for screening compels people to assume health as a moral virtue. Screening is turned into a ritual that people consume to attain salvation. Since diseases may lead to death, diseases must be avoided though screening. Yet health is not just about the absence of disease. Health and well-being can only be realised by the individual within the context of the individual�s life as a whole. The institution of biomedicine has undeniable responsibility to ensure that screening will not be used to the detriment of individuals� health and well-being. Without condemning disease screening as a potentially useful tool in the prevention of disease, this thesis advocates prudence in its utilisation. People must not be compelled to attend screening through programmes of promotion (commercially related or not). Rather, autonomous decisions must be facilitated as far as possible through the provision of clear, accurate and factual information.
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Tedgård, Ulf. "Prenatal diagnosis of haemophilia psychological, social and ethical aspects /." Malmö : Dept. of Pediatrics, University Hospital of Malmö, University of Lund, 1999. http://catalog.hathitrust.org/api/volumes/oclc/57455671.html.
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馮敬業 and King-yip Fung. "Screening of recurrent BRCA gene mutations in Chinese breast and ovarian cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2000. http://hub.hku.hk/bib/B31969720.
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Hayat, Roshanai Afsaneh. "Psychological and Behavioral Aspects of Receiving Genetic Counseling for Hereditary Cancer." Doctoral thesis, Uppsala universitet, Vårdvetenskap, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-128870.
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The overall aims of this thesis were to investigate psychological and behavioral effects of receiving cancer genetic counseling for breast, ovarian and colorectal cancer and/or with a family history of these cancer types and to determine whether counselees’ informational needs were met. Study I was performed 3-7 years post-counseling. Participants (n=214) reported a relatively high level of anxiety but a low level of depression compared to cancer patients in general. However, there was no indication that the distress experienced was due to the counseling. Moderate changes in life and family relations, high level of adherence to recommended controls and satisfaction was reported. Study II was a randomized control trial (RCT) intervention study which involved 147 counselees. An increase in the level of knowledge and correct estimation of personal risk was reported in both the intervention and control groups, although this increase declined at later follow-up. Enhanced information led to significantly greater satisfaction with the given information, and the way of informing relatives. Most counselees had shared information with their at-risk relatives. Study III focused on sharing information with at-risk relatives among participants in study II and their relatives (n=81). Counselees were interviewed and answered a questionnaire, whilst their relatives only answered the questionnaire. Counselees reported positive/neutral feelings about communicating genetic information and mostly interpreted their relatives’ reactions as positive/ neutral. Also, approximately 50% of relatives reported positive/neutral reactions and were generally satisfied with the received information. Study IV was conducted in Sweden and Norway based on 235 counselees. Counselees expected counselors to be skillful and thoughtful, take them seriously and provide risk estimations and medical information. Most important issues to counselees were satisfactorily addressed by the counselors. Analyzing importance rankings resulted in five categories of needs: a need for facts, caring communication and medical information, need for understanding and support in sharing genetic information, practical care and medical/practical information. In conclusion, no adverse psychological or behavioral effect on counselees was observed. Apparently, genetic counseling is managed properly and counselors successfully address counselees’ needs. Providing extended information does not seem necessary, however, tailoring information to individual counselees needs may create a more effective counseling.
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Ng, Wai-tong, and 吳偉棠. "Early detection and screening of familial nasopharyngeal carcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B41290720.
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Williamson, Nancy D. "Psychological Responses of Fathers and Mothers to Amniocentesis." Master's thesis, University of Central Florida, 1985. http://digital.library.ucf.edu/cdm/ref/collection/RTD/id/15675.
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University of Central Florida College of Arts and Sciences ThesisAmniocentesis is one of the most widely used prenatal diagnostic techniques for congenital disorders. It was hypothesized that the spychological responses of mothers and fathers to amniocenthesis during high-rish pregnancies would be positively correlated on scales of Symptomatology (Anxiety, Depression, Anger, and Somatic Complaints) and Well-Being (Relaxed, Contented, Friendliness, and Somatic Well-Being). It was also hypothesized that Symptomatology would be negatively correlated with Well-Being. Nineteen couples, who were referred by their physicians, voluntarily participated in the study. Each partner completed the Symptom Questionnaire (Kellner, 1983), a self-rating scale of Symptomatology and Well-Being, in addition to the Pre-Amniocentesis and Post-Amniocentesis Questionnaires (original questionnaires developed for this study) at intervals prior to and following the procedure, while awaiting results. A Pearson product-moment correlation of the total scores revealed a positive correlation (p < 0.5) between the scores of fathers and mothers on the Symptomatology Scale, both pre- and post-amniocentesis (r = .47 and .47). In addition, there was a significant negative correlation (p < .05) between Symptomatolgy and Well-Being scores for both mothers (r = -.55 and -.60) and fathers (r = -.48 and -.74) at the pre- and post-amniocentesis periods, respectively. The hypothesis cannot be completely accepted because the positive correlation does not exist at the post-amniocentesis level. Mothers appear to experience more Symptomatology and less Well-Being than fathers at the post-amniocentesis level. The results are interpreted to suggest that fathers and mothers may both benefit from pre- and post-amniocentesis supportive intervention.
M.S.;
Masters
Arts and Sciences;
Clinical Psychology;
42 p.
vii, 42 leaves, bound : ill. ; 28 cm.
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Hoek, Kim G. P. "Mutation screening of pre-eclampsia candidate genes, LEP (ob) and LEPR (obR)." Thesis, Stellenbosch : University of Stellenbosch, 2006. http://hdl.handle.net/10019.1/2834.
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Thesis (MSc (Genetics))--University of Stellenbosch, 2006.Pre-eclampsia is a multisystemic disorder with an incidence of ~6-8% in non-Caucasian women in the Western Cape. Trophoblast invasion is vital for adequate anchorage of the placenta to the uterine wall as well as for the optimisation of utero-placental blood flow in uncomplicated pregnancies. This process is facilitated by the fetal trophoblast cells that digest the extracellular matrix of the uterus by secreting various molecules, including the metalloproteinases (MMP), of which MMP-9 has an increased production during the first trimester. Leptin, an autocrine regulator of MMP-9 secretion, functions via the leptin receptor to prevent over-invasion of maternal tissues. The aim of this study was to investigate the role of the leptin (ob) and leptin receptor (obR) genes in predisposition to pre-eclampsia and involved screening the genes in South African non-Caucasian cohorts and performing statistical analysis to determine whether any variants contributed to the disease profile.
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Siu, Ho-yee Vivian. "The role of monitoring style in managing psychological distress associated with genetic colorectal cancer testing." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B29760161.
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Gustafsson, Stolt Ulrica. "Aspects in bioethics : theory and practice in a preventive screening for type 1 diabetes /." Linköping, 2002. http://www.bibl.liu.se/liupubl/disp/disp2003/med763s.pdf.
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Wade, Walsh Margo. "Women Receiving Genetic Counseling for Breast Cancer Risk: Cancer Worry, Psychological Distress, and Risk Recall Accuracy." Thesis, University of North Texas, 1999. https://digital.library.unt.edu/ark:/67531/metadc2185/.
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This follows an earlier study of the same data set, which, through its findings, presented new questions that are investigated in this study. Both studies used a prospective controlled design, wherein women receiving genetic counseling for breast cancer risk were randomized into two groups. Subjects receiving an audiotaped recording of their genetic consultation (tape group) were compared to subjects who also had a genetic consultation but did not receive an audiotaped recording of it (no-tape group). Participants were drawn from attendees at the genetic clinics of two London hospitals and included 115 women with a family history of breast cancer. Cancer worry and psychological distress were assessed before genetic consultation (baseline), and at one- and six-month follow-ups by post. Objective risk was estimated by the geneticist during the consultation, and subjective risk was assessed at one month follow-up. The goals of the current study were to investigate relationships between cancer worry, psychological distress, and recall of genetic risk for breast cancer in a sample of women receiving genetic counseling for breast cancer risk, and to investigate the role sociodemographic variables on cancer worry, psychological distress, or risk recall for these women. Results for this sample of women with a family history of breast cancer found that there were consistent relationships between cancer worry, psychological distress, objective risk, and subjective risk before and after genetic consultation. This suggests that women=s psychological responses are appropriate to their level of cancer risk. There were no differences found between the tape and no-tape groups for objective or subjective risk, or for nearness of recall accuracy or degree of under-/over-estimation. Provision of an audiotaped recording of the genetic consultation did not appear to enhance recall of risk information. The role of sociodemographic variables on the psychological and risk variables assessed in this study was very minor. Age was mildly correlated with cancer worry, and employment was predictive of cancer worry only at baseline.
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Marino, Dante. "Screening of Germplasm Accessions from the Brassica Species for Resistance against PG3 and PG4 Isolates of Blackleg." Thesis, North Dakota State University, 2011. https://hdl.handle.net/10365/29053.
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Blackleg is a disease of canola and rapeseed cultivars that is caused by the fungus Leptosphaeria maculans (Desm.) Ces. & de Not., and it is by far the most destructive pathogen of canola in North America. In recent years, blackleg strains belonging to pathogenicity groups (PG) 3 and 4 have been discovered in North Dakota. Recent outbreaks of the disease have added a sense of urgency to characterize the risk these new strains represent for the canola industry and to identify sources of resistance against them. Thus, the objectives of this study were to screen germplasm collections of Brassica rapa, B. napus. and B. juncea for their reaction to PG3 and PG4 and to evaluate the reaction of a sample of currently used canola commercial cultivars grown in North Dakota to PG3 and PG4 as means to estimate the risk these new strains represent. All canola germplasm and commercial cultivars were evaluated in replicated trials in greenhouse conditions using cotyledon bioassays. In 2009 and 2010, the effect of these strains, using five inoculation sequences, on the reaction of canola seedlings was also evaluated. Field trials were not conducted because of the limited geographical distribution of the new strains. No adequate sources of resistance were identified among the 277 B. rapa and 130 B. napus accessions evaluated; however, 22 of the 406 accessions of Brassicajuncea evaluated were considered to have moderate levels of resistance. B. juncea seedlings that survived these inoculations were self-pollinated and their progeny (F1) were also screened. As before, surviving seedlings were self-pollinated. These F2 seeds are the elite materials that could be used in future breeding programs. The complementary study evaluating the role of sequence inoculations in reaction of canola seedlings to blackleg indicated that an increased susceptibility to PG3 occurred when seedlings were first inoculated with PG4; however, reaction to PG4 was not enhanced by a prior inoculation with PG3. All 75 commercial cultivars evaluated were susceptible to PG3 and PG4, indicating that the risk these new strains represent to the canola industry of the region is serious. Further, when a subsample of 16 cultivars were challenged with PG2, they were either resistant or moderately resistant, suggesting the ratings the industry are using relate to reaction of those cultivars to PG2 but not to the new strains; thus, growers should use caution when using these ratings while deciding on which cultivars to plant.North Dakota State University. Department of Plant Pathology
USDA North Central Canola Research Program
Northern Canola Growers Association
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Makubalo, Zola. "Mutation screening of candidate genes and the development of polymorphic markers residing on chromosome 19q13.3, the progressive familial heart block I gene search area." Thesis, Stellenbosch : Stellenbosch University, 2000. http://hdl.handle.net/10019.1/51838.
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Thesis (MSc)--Stellenbosch University, 2000.ENGLISH ABSTRACT: Progressive familial heart block type I (PFHBI) is a cardiac ventricular conduction disorder of unknown cause associated with risk of sudden death, which has been described in several South African families. Clinically, PFHBI is characterised by right bundle branch block on ECG, which may progress to complete heart block, necessitating pacemaker implantation. The disease shows an autosomal dominant pattern of inheritance with evidence of genetic anticipation. Using genetic linkage analysis, the PFHBI-causative gene was mapped to a 10 eentimorgan (cM) gene-rich area of chromosome (C) 19q13.3, which has, subsequently, been reduced to 7cM by fine mapping with polymorphic dinucleotide (CA)n short tandem repeat (STR) markers. Several attractive candidate genes, including muscle glycogen synthase (GSY 1) and histidine-rich calcium binding protein (HRC), lie within this region. The aim of the present study was two-fold: 1) to identify and characterise tetranucleotide (AAAT)n STRs within the PFHBI critical region that could be developed as polymorphic markers for use in genetic fine mapping and 2) to screen selected regions of GSY 1and HRC, positional candidate genes, for the presence ofPFHBI-causing mutation(s). Cosmids harbouring CI9q13.3 insert DNA were screened for the presence of (AAAT)n STRs by dot blot and Southern blot hybridisation using a radiolabelled (AAAT)lO oligonucleotide probe. To characterise the harboured (AAAT)n STRs, the positively hybridising fragments identified by Southern blot were sub-cloned, sequenced and primers designed from the unique repeat-flanking sequences. These primers were used to genotype the (AAAT)n repeat locus to assess its polymorphic nature in a panel of unrelated individuals. Alternatively, vectorette PCR, a rapid method of identifying repeat sequences and obtaining the flanking sequences in large inserts, was employed to develop polymorphic markers from the positively hybridising clones. Selected exons of GSY1 and HRC were screened for the presence of potentially disease-causing mutations by PCR-SSCP analysis and direct sequencing, respectively, in PFHBI-affected and unaffected family members. Of the available cosmid clones that gave strong signals on dot blot and Southern blot hybridisation, three, 29395, 24493 and 20381, were located within the critical PFHBI area and were used for marker development. An interrupted (AAAT)n repeat motif (n less than 5) was identified in cosmid 29395, however, the repeat locus was not polymorphic in the tested population. No (AAAT)n motif, single or repeated was observed in the partial sequence of the sub-cloned fragment of cosmid 24493. Using vectorette peR, no repeated (AAAT)n motif was identified on sequencing the generated products in either cosmid 24493 or 2038l. However, diffuse single AAAT motifs were detected in both cosmids. Exons 4, 5, 11, 12 and 16 of GSY 1, containing domains that are conserved across species, and the conserved eterminus- encoding exons 2-6 of HRC were selected for screening for potential PFHBI-causing mutation(s). However, no sequence variations were detected. The interrupted (AAAT)n repeat identified in cosmid 29395 was not polymorphic, which confirmed reports that complex repeats, especially those containing AAAT motifs of less than 6 repeats, are not polymorphic. One possible explanation for the absence of a repeated AAAT motif in cosmids 24493 and 20381, which both gave positive hybridisation signals, is that the low annealing temperature of the AfT -rich repeat-anchored primers used in vectorette peR may have resulted in transient annealing to the diffuse single AAAT motifs detected on sequencing. The screened regions of candidate genes GSYI and HRC were excluded from carrying the disease-causing mutation(s). The availability of new sequence data generated by the Human Genome Project will influence future strategies to identify the PFHBI gene. Electronic searches will allow identification of STR sequences for development of polymorphic markers and gene annotation will allow selection of new candidate genes for mutation screening.
AFRIKAANSE OPSOMMING: Sien volteks vir opsomming
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Kirkendall, Darrin J. "The relationship between anxiety and children's performance on the Reitan-Indiana Aphasia Screening Test." Virtual Press, 1997. http://liblink.bsu.edu/uhtbin/catkey/1063209.
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This study explored the relationship between anxiety and children's performance on the Reitan-Indiana Aphasia Screening Test. Anxiety was measured using the Personality Inventory for Children. Participants' anxiety scores were correlated with the individual component error scores and the total error scores from the Reitan Aphasia Screening Test. Second, the individual component scores were examined to assess their independent and shared contributions in the prediction of the Anxiety Scale of the Personality Inventory for Children.Participants for this study were 176, 9 to 16 year old boys and girls referred to an outpatient neuropsychological assessment clinic. Anxiety was found to be significantly related to the total score of the Reitan-Indiana Aphasia Screening test, as well as, each of the individual components. The regression analysis showed that five of the individual components of the Reitan-Indiana Aphasia Screening Test were able to significantly predict scores on the Anxiety Scale of the Personality Inventory for Children with a multiple R of .76. These data were discussed in terms of the importance of the interrelationship between anxiety and the Reitan-Indiana Aphasia Screening Test when making clinical judgements concerning the individual patient.Department of Educational Psychology
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Gebhardt, G. S. "Genetic aspects of pre-eclampsia : mutation screening of the low-density lipoprotein receptor, methylenetetrahydrofolate reductase, prothrombin and factor V candidate genes." Thesis, Stellenbosch : Stellenbosch University, 2001. http://hdl.handle.net/10019.1/52284.
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Thesis (MSc)--Stellenbosch University, 2001.ENGLISH ABSTRACT: Pre-eclampsia is a condition unique to pregnancy and primarily affects the maternal and placental vascular endothelium. It has significant morbidity and mortality consequences for both mother and infant. Despite global research into the aetiology of the condition, the cause for this condition remains unknown. Several factors, including a strong family history of hypertension in pregnancy point to a familial or genetic component in the pathophysiology of this complication. The purpose of this research project was to investigate candidate genes implicated in endothelial damage. Common methylene-tetra-hydrofolate reductase (MTHFR) gene mutations C677T and A1298C, factor V Leiden mutation R506Q and prothrombin mutation A20210G were investigated in 50 patients with an uncomplicated pregnancy outcome (controls) and 350 patients with various clinical manifestations of preeclampsia, including severe, early onset forms and abruptio placentae. Fasting homocystein levels were determined biochemically on all participants. In addition, 126 consecutive pregnant patients were recruited at booking, fasting lipograms were performed on them as well as mutation screening of 7 common mutations in the low-density lipoprotein receptor gene. This was correlated with eventual pregnancy outcome, and those with an uncomplicated outcome were selected as an additional control group. A significant association between hyperhomocysteinaemia and early onset severe pre-eclampsia could be demonstrated. Mutant allele T of the C677T mutation could be associated with hyperhomocysteinaemia but not with pre-eclampsia whilst mutant allele C of mutation A1298C demonstrated a significant correlation with diastolic blood pressure. In addition, combined heterozygosity for these mutations may serve as a marker for abruptio placentae.
ENGLISH ABSTRACT: Pre-eklampsie is 'n hipertensiewe toestand uniek aan menslike swangerskap en dit affekteer hoofsaaklik die vaskulêre endoteel. Die toestand hou ernstige morbiditeit en mortaliteit vir beide ma en baba in en na jare se navorsing is die oorsaak van hierdie toestand steeds onbekend. Epidemiologiese studies toon 'n duidelike familiële verband aan wat die vermoede laat ontstaan dat daar 'n onderliggende genetiese aspek tot die ontwikkeling van die siektetoestand is. Die doel van hierdie navorsingsprojek was om gene te ondersoek wat geïmpliseer word in endoteel skade. Twee algemene mutasies, C677T en A1298C in die MTHFR geen asook faktor V Leiden R506Q en protrombien A20210G mutasies is ontleed in 50 pasiënte met 'n ongekompliseerde swangerskapsverloop en in 350 pasiënte met 'n swangerskap gekompliseer deur verskillende kliniese manifestasies van die siekteproses, insluitende vroeë aankoms erge pre-eklampsie en abruptio placentae. Op alle pasiënte is ook 'n vastende homosistiën vlak biochemies bepaal. 'n Verdere 126 opeenvolgende pasiënte is gewerf tydens hulle eerste besoek aan die voorgeboortekliniek en vastende lipogramme is op almal uitgevoer. Mutasie sifting vir 7 algemene mutasies in die lae-digtheids lipoproteïen reseptor geen is op hierdie groep gedoen en die resultaat is met die uiteindelike swangerskapsuitkoms gekorreleer. Pasiënte met 'n uitkoms ongekompliseer deur hipertensie is gekies om deel te wees van 'n verdere kontrolegroep. Daar was 'n betekenisvolle verband tussen hiperhomositiënemie en erge, vroeë aankoms pre-eklampsie. Die T alleel van die C677T mutasie is geassosieer met hiperhomosistiënemie maar nie met pre-eklampsie nie. Die C alleel van die A 1298C mutasie toon 'n betekenisvolle verband met diastoliese bloeddruk. Gekombineerde heterosigositeit vir beide MTHFR mutasies kan 'n moontlike merker vir abruptio placentae wees.
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Feinstein, Carla Fran. "Dying to Know." PDXScholar, 2010. https://pdxscholar.library.pdx.edu/open_access_etds/1318.
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Du, Min. "A greenhouse screening method for resistance to gray leaf spot in maize." Thesis, Virginia Tech, 1993. http://hdl.handle.net/10919/42953.
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Walker, Katherine Elise. "Correlates of the Scales of a Modified Screening Version of the Multidimensional Pain Inventory with Depression and Anxiety on a Chronic Pain Sample." Thesis, University of North Texas, 2009. https://digital.library.unt.edu/ark:/67531/metadc9822/.
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This correlational study investigated the relationship between changes in the psychosocial scales of the MPI Screener Patient Report Card (Clark, 1996) with changes in depression and anxiety with a sample of chronic pain patients who completed a 4-week outpatient interdisciplinary treatment program located in a large regional medical center. Race, gender, and primary pain diagnosis were additional predictors. Data analyzed came from an existing patient outcome database (N = 203). Five research assumptions were examined using ten separate (five pre and five post-treatment) hierarchical multiple regression analyses. Statistical significance was found in pre and post-treatment analyses with predictors BDI-II (Beck, Steer, & Brown, 1996) and BAI (Beck & Steer, 1993) on criterions Pain Interference, Emotional Distress, and Life Control, and Total Function.
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Panton, Nicola. "Mutation analysis of four genes implicated in iron homeostasis in porphyria cutanea tarda (PCT) patients." Thesis, Link to the online version, 2008. http://hdl.handle.net/10019/888.
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Delport, Darnielle. "The development and application of a polymerase chain reaction (PCR) based assay to determine the impact of genetic variation in South African patients diagnosed with depression." Thesis, Stellenbosch : Stellenbosch University, 2014. http://hdl.handle.net/10019.1/86564.
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Thesis (MPath)--Stellenbosch University, 2014.ENGLISH ABSTRACT: Major Depressive Disorder (MDD) is a severe debilitating medical condition that may lead to suicide. Due to a poor understanding of the biological mechanisms underlying the disease process therapeutic decisions are usually taken using a ‘trial and error’ approach. This is not ideal since many treatments do not work as expected for all individuals. Studies have shown that only half of MDD patients receive the appropriate treatment, whereas many patients have adverse response to anti-depressants. These may include weight gain and raised homocysteine levels that may further compromise the health status of MDD patients and may partly explain the link with cardiovascular disease. The objective of the study was to identify genetic risk factors interacting with environmental factors implicated in MDD that may be of relevance to the South African population. Polymorphisms in the MTHFR (677 C>T, rs1801133 and 1298 A>C, rs1801131), COMT (472G>A, rs4680), CYP2D6 (6937G>A, rs3892097), ASMT (24436 G>A, rs4446909) and SLC6A4 (43 bp ins/del, rs4795541) genes were genotyped in 86 MDD patients and 97 population-matched controls. The specific aims were 1) to analytically validate high throughput real-time polymerase chain reaction (RT-PCR) genotyping assays for the selected SNPs against direct sequencing as the gold standard for 2) possible integration into a pathology-supported genetic testing strategy aimed at improved clinical management of MDD. A total of 183 unrelated Caucasians participated in the study, including 69 females and 17 males with MDD and 57 female and 40 male controls without a personal and family medical history of overlapping stress/anxiety and depressive disorders. All study participants were genotyped for the six selected SNPs considered clinically useful based on international data. The allelic distribution of the SNPs, single or combined into a genotype risk score after counting their minor alleles, did not differ between MDD patients and controls. Homocysteine levels were determined and correlated with body mass index (BMI) and other variables known to influence these phenotypes. The folate score assessed with use of the study questionnaire was significantly lower in the patient group compared with controls (p=0.003) and correlated significantly with BMI, particularly in females (p=0.009). BMI was on average 8% higher in the MDD patients compared with controls (p=0.015) after adjustment for age and sex. The MTHFR rs1801133 677 T-allele was associated with a 14% increase in BMI in MDD patients but not controls (p=0.032), which in turn was associated with significantly increased homocysteine levels (p<0.05). The aims of the study were successfully achieved. Identification of the MTHFR rs1801133 677 T-allele reinforces the importance of adequate folate intake in the diet due to increased risk of obesity and depression found to be associated with low dietary intake. Evidence of shared genetic vulnerability for many chronic diseases and drug response mediated by the MTHFR 677 T-allele support the clinical relevance of this low-penetrance mutation.
AFRIKAANSE OPSOMMING: Major depressie (MD) is ‘n aftakelende siektetoestand wat tot selfdood kan lei. Onkunde oor die siekte se onderliggende biologiese meganismes lei dikwels tot ‘n lukrake terapeutiese benadering. Dit is ‘n onbevredigende situasie aangesien indiwidue verskillend reageer op die middels wat voorgeskryf word. Navorsing toon dat slegs ongeveer die helfte van MD pasiënte toepaslike behandeling kry, terwyl anti-depressante ‘n nadelige uitwerking het op baie pasiënte. Dit sluit massatoename en verhoogde homosisteïenvlakke in wat MD pasiënte se gesondheid bykomend nadelig kan beïnvloed en die verband met kardiovaskulêre siekte gedeeltelik kan verklaar. Hierdie studie poog om MD verwante genetiese risikofaktore en omgewingsfaktore wat mekaar beïnvloed en moontlik op die Suid Afrikaanse bevolking betrekking het, te identifiseer. Polimorfismes in die MTHFR (677 C>T, rs1801133 en 1298 A>C, rs1801131), COMT (472G>A, rs4680), CYP2D6 (6937G>A, rs3892097), ASMT (24436 G>A, rs4446909) en SLC6A4 (43 bp ins/del, rs4795541) gene is geanaliseer in 86 MD pasiënte en 97 kontroles geselekteer van dieselfde populasie. Die spesifieke doelwitte was om 1) hoë deurset direkte polimerase kettingreaksie (RT-PCR) genotiperingstoetse vir die 6 gekose polimorfismes met direkte volgordebepaling as maatstaf analities te valideer vir 2) moontlike insluiting in ‘n patologie-ondersteunde genetiese toetsstrategie met die oog op beter kliniese hantering van MD. Altesaam 183 Kaukasiërs het aan die studie deelgeneem. Die MD pasiënte het uit 69 vroue en 17 mans bestaan. Die kontroles (57 vroue en 40 mans) het geen mediese geskiedenis (persoonlik of familie) van oorvleuelende stress/angstigheid of depressie gehad nie. Gebaseer op internasionale data, is al die deelnemers vir die 6 gekose, potensieel klinies-bruikbare polimorfismes getoets. Die alleliese verspreiding van die polimorfismes enkel of gekombineer (uitgedruk as ‘n genotipe-risiko-syfer nadat minor allele getel is), was dieselfde in MD-pasiënte en kontroles. Homosisteïenvlakke is bepaal en gekorreleer met die liggaamsmassa-indeks (BMI) en ander veranderlikes wat bekend is vir hulle invloed op hierdie fenotipes. In teenstelling met die kontroles, was die folaat telling, soos bepaal met die studievraelys, betekenisvol laer in die pasiënte (p=0.003). Die korrelasie met die liggaamsmassa-indeks, spesifiek by vroue, was ook betekenisvol (p=0.009). Na aanpassings vir ouderdom en geslag, is gevind dat die liggaamsmassa-indeks gemiddeld 8% hoër was in die die MD pasiënte teenoor die kontroles. By MD-pasiënte, maar nie by die kontroles nie, is die MTHFR rs1801133 677 T-alleel geassosieer met ‘n 14% toename in liggaamsmassa-indeks (p=0.032), wat ook geassosieer was met betekenisvolle verhoogde homosisteïenvlakke (p<0.05). Die doelwitte van die studie is bereik. Identifisering van die MTHFR rs1801133 677 T-alleel beklemtoon hoe belangrik dit is om voldoende folaat in te neem, veral omdat ‘n verhoogde risiko vir vetsug en depressie met ‘n lae folaatinname in die diet geassosieer word. Die kliniese belang van die MTHFR 677 T-alleel word beklemtoon deur toenemende bewyse wat daarop dui dat gedeelde genetiese vatbaarheid vir ‘n verskeidenheid van kroniese siektes asook middelrespons aan bemiddeling deur hierdie lae penetrasie mutasie toegeskryf kan word.
Winetech
Technology for Human Resources and Industry Program (THRIP).
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Zhang, Hanshuo. "Large-scale identification of functional genes regulating cancer cell migration and metastasis using the self-assembled cell microarray." Diss., Georgia Institute of Technology, 2013. http://hdl.handle.net/1853/49066.
Full textAbstract:
Metastasis is one of the critical hallmarks of malignancy tumor and the principal cause of death in patients with cancer. Cell migration is the basic and essential step in cancer metastasis process. To systematically investigate functional genes regulating cell migration and cancer metastasis on large scale, we developed a novel on-chip method, SAMcell (self-assembled cell microarray). This method was demonstrated to be particularly suitable for loss-of-function high-throughput screening because of its unique advantages. The first application of SAMcell was to screen human genome miRNAs, considering that more and more miRNAs had been proved to govern cancer metastasis. We found that over 20 % of miRNAs have migratory regulation activity in diverse cell types, indicating a general involvement of miRNAs in migratory regulation. Through triple-round screenings, we discovered miR-23b, which is down-regulated in human colon cancer samples, potently mediates the multiple steps of metastasis, including cell motility, cell growth and cell survival. In parallel, the second application of SAMcell was to screen human genome kinase genes, considering that more and more kinase genes had become successful diagnostic marker or drug targets. We found over 11% migratory kinase genes, suggesting the important role of kinase group in metastasis regulation. Through both functional screening and bioinformatics analysis, we discovered and validated 6 prospective metastasis-related kinase genes, which can be new potential targets in cancer therapy. These findings allow the understanding of regulation mechanism in human cancer progression, especially metastasis and provide the new insight into the biological and therapeutical importance of miRNAs or kinases in cancer.
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Wautier, Jacqueline A. "L'humanité à l'épreuve de la génétique et des technosciences." Doctoral thesis, Universite Libre de Bruxelles, 2005. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/211029.
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Il s’agit de montrer que les technosciences, rencontrant l’humanitude comme leur condition de possibilité et leur moteur propulsif, risquent d’actualiser une potentialité aporétique associée à une enclave organique perméable et à une maintenance identitaire inscrite dans le devenir - associée à une intériorité se dépliant en extériorité et à un monisme substantiel s’exprimant dans la dualité (en soi, comme soi et hors de soi). Pour ce faire, nous observons et confrontons :les techniques (des PMA aux manipulations d’embryons, des diagnostics génétiques aux thérapies géniques, du clonage à la transgenèse) à l’individu, l’individu à ses latitudes (en ce compris par la voie d’une «consultation» des personnes souffrantes, des scientifiques et de la population dite «générale») et celles-ci à l’humanitude. Par ailleurs, nous définissons l’individu d’une indéfinition :où l’homme est point de convergence (entre divers états, plans et déterminants) et force d’émergence (hors ses donnés) - équilibre en construction incessante et incessible. Où sa spécificité tient à l’occupation corporelle et pensée d’un espace et d’un temps :équilibre en soutenance entre stase et métabolisme, non-soi et soi, subordinations et libérations, centralisations identitaires et extériorisations identifiantes. Par suite, toute intervention pesant en déséquilibre sur ces articulations devrait être évitée – en principe. En principe car, du fait de la multiplicité et de la diversité des intervenants, du fait même de leur liberté et des incertitudes plurielles, il y aura toujours pression ou déséquilibre. Néanmoins, il importe de mesurer l’acte aux conditions de la liberté et de l’humanité :conscience, autonomie, libre disposition de soi, sensibilité, émotivité, souci, malléabilité principielle (contre une assignation à demeure spécielle ou existentielle) et réappropriation essentielle (contre un déterminisme global – une appropriation par tiers). Et il convient de préserver le lien du corps et de l’esprit :où l’esprit transcende le corps qui le forme et l’informe – selon une mise à distance au sein d’une unité (et d’une unicité).
Or, nous constatons que l’humanitude, prise en charge par les techniques qu’elle produit, édifie un domaine existentiel caractérisé par une biographie de l’arrachement ou du désinvestissement. Et que l’homme, être de l’entre-deux défini par la négation de tout Etat advenu, produit un processus technique propre à l’extraire de cet «entre-deux». Déjà, l’individu libère ses tendances dispersives et ses tendances confusionnelles :mise à distance de l’entité corporelle (en sa force référentielle ou définitoire), identité décisionnelle et puissance volitive plus dispersive que centralisatrice. Où donc néoténie, imparfaite assignation, distanciation et in-essentialité ouvrent à la liberté tout en autorisant l’incorporation du non-soi, l’opérativité de la volonté et l’évanescence des états de l’organisme et de la psyché (de la personnalité comme tout identitaire). Cependant, si les techniques font exploser ces équilibres, reste la dissipation :où le «soi serait amené à se reconnaître comme pure et simple concept construit. Dans ce contexte, tout s’abandonne aux modifications. Et l’homme de jouer avec le donné et le donné en lui - donné qui est lui mais se décompose dorénavant en fonds «sacral» de puissances, en substrats géniques, mnésiques et morphologiques modelables et en constituants interchangeables. Semblable attitude recouvre une fuite hors de la condition humaine :tantôt vers «autre chose», tantôt vers un alignement démissionnaire sur un Décideur Transcendant. Et pour la première fois aussi globalement et intensément, instinct et volonté de survivre se soumettent à leur propre négation :pour qu’il subsiste «quelque chose plutôt que rien» dans le futur lointain, l’espèce conspire à sa propre fin. Pour la première fois (première fois aussi proche d’une réalisation), l’individu aspire à une dispersion de conscience, à une évanescence personnale et à une fin de l’Histoire sous couvert d’une histoire sans fin et d’un devenir incessant – gardant du devenir la seule processualité mécanique. Le danger est alors considérable car l’homme sort de l’animalité dans le champ où s’entrechoquent libre arbitre et déterminisme, références identitaires et décentrages, appartenances et abstractions. Car cet animal-là exprime sa spécificité à l’extérieur de l’enceinte biologique mais à partir d’une densité individuale :dans l’élaboration sociale et culturelle. Dès lors, quand l’existence précède l’essence et face aux possibles technoscientifiques, il importe de préserver l’homme d’une existenciation illusoire et d’une personnalisation évanescente. Et de pondérer la totalité individuale de ses dimensions temporelles :où l’individu est un être perpétuellement devenant ;où l’existence crée, investit et signifie une durée ;où l’identité est continuité d’unicité en devenir ;où l’humanité est construction d’Histoire et invention de sens. Cela oblige l’individu à se soutenir eu égard à des doubles nœuds référentiels :anthropique et autobiographique, culturel et familial, spirituel ou décisionnel et charnel ou factuel, symbolique et opératoire, autoréférentiel et relationnel. Mais aussi, en matière éthique, entre principe et casuistique, idéal et exception, collectif et individuel.
Doubles nœuds contestés par les techniques. Aussi, face à l’opérativité croissante de celles-ci, nous nous interrogeons sur ce qu’il pourrait advenir de la condition humaine et des conditions de possibilité de l’homme - considéré ici comme individu (spécimen défini en ses spécificités) au milieu du monde, conscience (sensible et émotionnelle) en situation d’interrelation, et subjectivité (volitive) face à ses semblables.
Doctorat en philosophie et lettres, Orientation bioéthique
info:eu-repo/semantics/nonPublished
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Guedeney, Antoine. "Le comportement de retrait relationnel du jeune enfant : du concept à l'outil de dépistage : résultats et perspectives de recherche." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCB203.
Full textAbstract:
Ce travail concerne le comportement de retrait relationnel du jeune enfant, sa mesure et sa validité prédictive sur la qualité du développement précoce dans ses différentes dimensions. Il représente la première synthèse de l'histoire du concept de retrait relationnel du jeune enfant, de ses liens avec les modèles animaux, avec le modèle paradigmatique du "Still Face" et de la réparation, de la dys-synchronie comme facteur majeur de la psychopathologie précoce. Le comportement de retrait relationnel prend ses racines dans la physiologie, comme mode privilégié de régulation par le bébé de l'interaction, dans une échelle micro interactive. D'une façon plus clinique et sur une échelle temporelle plus longue, il apparaît comme un mode de défense majeur face à la violation des attentes du bébé dans l'interaction. On l'observe donc de façon privilégiée dans la dépression maternelle post natale mais aussi dans toutes les circonstances psychopathologiques qui affectent les capacités parentales (par exemple et de façon très nette dans les situations de conflit et violences conjugales). Le retrait relationnel peut également être lié à des difficultés de traitement de l'information sensorielle par le bébé, à des difficultés de communication sociale, à une douleur intense prolongée, et dans la prématurité ou dans certains syndromes génétiques à une association de ces facteurs liés à l'enfant. Ce travail retrace les débuts de la construction d'un outil de mesure du retrait relationnel précoce, dans la mesure où cet outil n'existait pas en tant que tel, alors que le retrait relationnel apparaît comme un signal d'alarme important, témoignant de la difficulté du bébé de jouer le jeu relationnel à hauteur de ses capacités développementales, que ce soit pour des causes liées à lui-même, à la relation avec ses caregivers, ou aux deux. Ce travail s'ouvre par une histoire de la psychiatrie du bébé et de l'avènement de la psychopathologie développementale, car on note l'importance du symptôme retrait dans cette histoire, qu'il s'agisse de l'autisme (Kanner) ou de la dépression ou de la carence précoces (Spitz), puis un historique de concept de retrait relationnel précoce : contexte clinique modèles animaux, biologie, la Construction et validation de l'échelle Alarme Détresse bébé (ADBB à 8 items) puis celle de la m-ADBB à 5 items, puis par la Psychopathologie du retrait relationnel durable, et Les développements et les applications de l'échelle ADBB : m-ADBB, effets à terme du retrait, études longitudinales, la prématurité comme analyseur du développement, dépistage précoce de l'autisme et enfin les projets en cours et trois projets actuels, autour du dépistage de l'autisme, autour de l'étude des différentes analyses factorielles et de la validation de la m-ADBB, et autour des pistes génétiques et épigénétiques du comportement de retrait. Il présente les résultats des études contrôlées et publiées avec l'ADBB, en particulier celles liées à la cohorte française d'étude des facteurs de risque et de résilience du développement précoce (étude périnatale EDEN). Le comportement clinique de retrait relationnel apparaît comme le résultat d'une interaction gène environnement, basée sur la susceptibilité génétique au comportement de retrait. Celle-ci apparaît liée au système allélique 5-HTTPR. Sur le plan cognitif, la question se pose du retrait comme pari, comme choix dans une situation d'incertitude. Les études de suivi des enfants en retrait montrent l'impact sur diverses dimensions du développement, langage, intersubjectivité, régulation émotionnelle, avec la question d'une période sensible. Ceci souligne l'importance du dépistage de ce comportement en vue d'une intervention précoce adaptée à sa causeThis work deals with social withdrawal behavior in infants, its measure and its conceptual validity, its predictive value on early development within its several dimensions. This is the first synthesis on the history of the concept of withdrawal in infant, of its links with animal models, with the still face experimental paradigm, as well as with the repair process and with interactional dys- syssynchrony as a major process in early psychopathology. Social withdrawal behavior has its roots in physiology, as privileged way used by the infant to regulate the input within the parent infant interaction, within a micro temporal scale. On a longer temporal and more clinical scale, withdrawal behavior appears as a major defense maneuver when the baby is faced with major violations of his her expectations within the relationship. It is therefore observed in a privileged way in maternal post-natal depression, but also in all circumstances which hamper parental capacities, as conjugal violence and conflict may do for instance. Social withdrawal behavior may be as well linked with difficulties in processing sensorial input in the child, or difficulties in social communication and synchrony, or be due to an intense and sustained pain, or be linked with some genetic disorder or with some association of these factors. This work retraces the construction of a scale to asses social withdrawal behavior in infants, since no such tool existed at the time, although social withdrawal behavior appears to be an important alarm signal, showing the inability of the child to play the relational game as his her developmental level allow him or her to do, be it for causes related to himself or herself, for relational causes of because of both. This work opens on a history of the development of child psychiatry and of the coming of ages of infant development. Social withdrawal behavior took a large place at the onset of this history, with the description of autism by Kanner and anaclitic depression by Spitz. Then a history of the concept of social relational withdrawal, and of the construction of the alarm distress scale (8 item) the of the short version (5 item m-ADBB), then the studies on long term effects of social withdrawal on development. We then review the application of the scale on early diagnosis of autism, on the several factor analysis with several samples, and of the several epigenetic and genetic pathways of the social withdrawal behavior. This work reviews the results of several controlled studies with the ADBB, particularly those from the perinatal French EDEN cohort. Social withdrawal behavior appears as the result of a gene interaction, based on the genetic c susceptibility for social withdrawal behavior, possibly liked with the 5-HTPPR allele system. On a cognitive level, the issue is raised of social withdrawal behavior as a choice of a risk taking position in an uncertain situation. Follow up studies show the impact of the social withdrawal behavior on several dimensions of early development, i.e. language, early development of intersubjectivity or emotional regulation
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Cox, Susan M. ""It’s not a secret but-- " : predictive testing and patterns of communication about genetic information in families at risk for Huntington Disease." Thesis, 1999. http://hdl.handle.net/2429/9955.
Full textAbstract:
The increasing transparence of the human genome has profound implications for how we
understand health and illness and perceive our biological and social relatedness to others.
Presymptomatic testing for adult onset conditions, in particular, creates the novel situation in
which some individuals know in advance of impending illness while others learn that they have
escaped such a fate. How families at risk for one adult onset condition — Huntington Disease
(HD) — communicate about such information is the topic of this dissertation.
HD is often described as a 'genetic time bomb'. It is an autosomal dominant
neuropsychiatric disorder characterized by mid-life onset, involuntary movements, cognitive
impairment, and depression. There is no effective prevention or cure but with the advent of
predictive testing in 1987 it became possible for at risk individuals to learn if they had inherited
the mutation associated with HL\ Empirical studies on predictive testing for HD focus primarily
on the individual psychological impacts of the test; few studies consider how families
understand and attempt to manage genetic information in their everyday lives.
This dissertation begins to address these lacunae by examining the stories that test
candidates and their families tell about hereditary risk and predictive testing. These stories
derive from a prospectively designed study which includes 102 in-depth, at-home interviews
conducted in the pre and post-results period with 16 test candidates and 33 family members.
Focusing on three narrative 'moments', the dissertation explores how study participants storied
their experiences of: 1) learning about the family history of HD, 2) deciding to request the
predictive test and, 3) making sense of an informative result. Drawing upon a social
constructionist approach, the analysis emphasizes the processual nature of predictive testing as
well as the significance of interpersonal communication in producing and reproducing the social
realities in which genetic information acquires a particular salience. Given the recent
proliferation of genetic tests as well as the absence of an adequate popular discourse on
embodied risk, the research underscores lay actors' abilities to reframe existing clinical schema
in order to interpret and manage hereditary risk in an intersubjectively meaningful way.
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Huerter, Mary Elise. "Prenatal Screening: Quality Control and the Genetics Gateway." Thesis, 2007. http://hdl.handle.net/1805/1131.
Full textAbstract:
Thesis (M.A.)--Indiana University, 2007.Department of Philosophy, Indiana University-Purdue University Indianapolis (IUPUI). Advisor(s): Jason T. Eberl, Peter H. Schwartz, William H. Schneider. Includes vitae. Includes bibliographical references (leaves 71-81).
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Bergh, Lorinda Brink. "Evaluation of a treatment programme for incarcerated rapists." Thesis, 2003. http://hdl.handle.net/2263/28300.
Full textAbstract:
This study consisted of an evaluation of different processes of change observed during the implementation of a treatment programme for incarcerated rapists that was developed by the researcher for a unique South African context. As no treatment programme was readily available for rapists, such a programme for incarcerated rapists first had to be developed and then implemented before the evaluation process could proceed. In order to do this, the researcher utilized a processual approach as well as two models of change to guide and evaluate the different processes within the broad research process. The Total Transformation Management Process (Mink, Esterhuysen, Mink&Owen, 1993) focused on the process to develop the treatment programme, while the Interchange Cycle (Brock&Salerno, 1994) focused on the changes that took place in the rapists during and after the implementation of the treatment programme. The information obtained from the results suggests that the two models that were used to evaluate the different change processes complemented each other as both models indicated that change took place on different levels. The findings determined that the treatment programme for incarcerated rapists was effective for first-time rapists and recommendations were made for future research. Copyright 2002, University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. Please cite as follows: Bergh, LB 2002, Evaluation of a treatment programme for incarcerated rapists, PhD thesis, University of Pretoria, Pretoria, viewed yymmdd < http://upetd.up.ac.za/thesis/available/etd-09302005-100826 / >Thesis (PhD (Psychology))--University of Pretoria, 2006.
Psychology
unrestricted
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"Genetics and genomics of allergic diseases." Thesis, 2011. http://library.cuhk.edu.hk/record=b6075403.
Full textAbstract:
Sy, Hing Yee.Thesis (Ph.D.)--Chinese University of Hong Kong, 2011.
Includes bibliographical references (leaves lxxiv-xciv).
Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web.
Abstract also in Chinese; appendixes I-III in Chinese.
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Davis, Kim Suzanne 1979. "The influence of genetic disorders on parenting stress and family environment." Thesis, 2007. http://hdl.handle.net/2152/3224.
Full textAbstract:
18q- is a chromosomal deletion disorder caused by missing genetic material from the long arm of the 18th chromosome. The extensive impairments associated with 18qmay be a significant source of stress to parents. Research on families of handicapped children suggests that these families experience additional stress related to challenges such as increased caregiving demands, changes in social support systems, and financial burdens related to medical needs and decreased income. Changes in the family environment are also implicated in families coping with a disabled child. Some studies reveal highly cohesive environments within these families, while others reveal decreased levels of expressiveness and cohesion and increases in conflict. The present study compared variables of parenting stress and family environment in families of children with and without disabilities. Group 1 consisted of 24 primary caregivers of children with 18q-. Group 2 consisted of 32 primary caregivers of children with DS. Group 3 consisted of 32 primary caregivers of typically developing children. A one-way, between groups multivariate analysis of variance (MANOVA) was conducted to investigate differences in parenting stress on three subscales of the Parenting Stress Index. A significant difference between groups was found. Post hoc pairwise comparisons indicated that the DS group reported statistically significantly more stress than the Control group on both the Isolation and Spouse subscales. The 18q- group was not found to be statistically significantly different from either the Control or DS group on any of the three PSI subscales. A one-way, between groups multivariate analysis of variance (MANOVA) was also conducted to investigate differences in family environment on three subscales of the Family Environment Scale. A significant difference between groups was found. Post hoc pairwise comparisons indicated that the DS group showed statistically significantly less amounts of cohesion in the family environment than both the 18q- and Control groups. The 18q- group showed similar levels of cohesion to the Control group. There were no significant differences between groups on the other two FES subscales. Findings from the study provide important information about the role of family environment and parenting stress in families of children with disabilities. Limitations of the study and implications for future research and practice are discussed.text
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Sow, Mounirou El-Hassimi. "Genetic diversity of Oryza species in Niger ; screening and breeding for resistance to rice yellow mottle virus (RYMV)." Thesis, 2012. http://hdl.handle.net/10413/8520.
Full textAbstract:
Rice is a staple food in many West African countries, including Niger. However, both regional and national rice production have failed to meet demand due to several constraints, among which is the Rice yellow mottle virus (RYMV). Moreover, attempted intensification of rice cultivation and the introduction of modern cultivars are encouraging farmers towards abandoning local landraces for high yielding, but often susceptible varieties. The study was primarily oriented towards rice pre-breeding, and identifying priorities for rice breeding in Niger in relation to farmers' preferences and their environment. A secondary aim was the development and evaluation (for release at the regional level) of new breeding lines with resistance to RYMV. This study aimed to: 1) Establish farmers' perception of rice varieties as well as the main constraints on rice production in Niger and particularly those posed by RYMV; 2) Create a collection of rice species from Niger for ex- situ conservation, and to determine the phenotypic variability within this collection; 3) Determine the genetic diversity and population structure of the collection; 4) Screen the collection for resistance to RYMV, so that new sources of resistance could be detected; 5) Improve five elite varieties from West Africa for resistance to RYMV using marker-assisted selection (MAS). The germplasm collection and PRA of this study were conducted in 2008 and 2009 in Niger, while the field and the laboratory researches were conducted in 2008 and 2009 at the Africa Rice Center (AfricaRice) in Benin. For the PRA, data was obtained from a semi-structured group discussion carried out in 14 villages, individual questioning of 153 farmers and visits to farmers' field and storage facilities. The local farmers' union was the only formal seed dissemination system. Seed exchanges between farmers and the use of seeds from previous harvests were important. The RYMV and the bacterial leaf blight (BLB) were cited as the prevalent biotic stresses in the irrigated agrosystem, where the varieties IR1529-680-3 and Waihidjo were found to be the most popular. Flood, birds and hippopotamus were the most damaging agents in the lowland cropping system, and the landrace Degaulle/ D5237 was the preferred variety. Apart from the yield, farmers preferred varieties with good grain quality (milling quality and good taste), high market value, stress tolerance (drought, flood, disease, birds, rodents), and those recommended by the local farmers' association. These findings should be included in breeding goals, seed production and dissemination systems. During collection, a total of 270 rice accessions were assembled, comprising the two cultivated rice species Oryza sativa L. and O. glaberrima Steud. and its two wild relatives Oryza barthii A. Chev. and O. longistaminata Chev. et Roehr. The region of the Niger River and its tributary (the Dallol Maouri) provided the majority (80.7%) of the accessions. Apart from a few wild O. barthii accessions, the accessions found around Lake Chad and the Komadougou river (South-East) were also collected in the Niger River area. Farmers' naming and ecological classification of rice varieties was generally consistent. Three major phenotypic groups were found during the field trials, and the overall phenotypic variability of the collection (as measured by the Shannon-Weaver Diversity Index) was relatively high. There was no significant difference in diversity between the main eco-geographical zones of collection, as well as between the identified phenotypic groups, suggesting a high level of germplasm exchange between the regions in Niger.
From the collection, 264 accessions were genotyped from the collection using 18 well distributed SSR markers and two main genetic compartments were detected, comprising O. sativa subsp. indica varieties and O. glaberrima and its wild relative O. barthii and O. longistaminata. The O. sativa group in Niger was divided into irrigated and floating rice, bound by lowland rice. The wild progenitor O. barthii was widespread but without any clear genetic differentiation from O. glaberrima, probably due to the presence of admixtures within the collected samples of O. barthii. Allelic diversity was relatively high, despite the geographical distance from the centre of domestication of African rice, and the points of entry of Asian rice to Africa. The findings reflect the underuse of Niger's rice landraces genetic potential for rice breeding, given that all the "improved" varieties released during the last 25 years in Niger were clustered together on the dendrogram. The response of a set of the rice collected from Niger and some accessions from Mali to inoculation by RYMV was evaluated using five different virus isolates from Niger (3), Benin (1) and Burkina Faso (1). All rice varieties were susceptible to the disease. However, depending on the virus strain, a few O. glaberrima accessions displayed partial resistance, similar to the highly resistant TOG5681. Allelic research based on primers derived from the RYMV1 gene revealed one accession with allele rymv1-3, and two accessions with allele rymv1-4, and one accession with a different resistance gene. The implications of the finding were discussed and a strategy proposed for breeding varieties with a comprehensive resistance to RYMV.
After three generations of backcrossing, the major resistance gene of the variety Gigante was successfully introgressed into five elite rice varieties of West Africa by Marker-Assisted Backcross (MABC). The newly developed BC3F3 progenies were screened for resistance to RYMV in farmers' fields in Guinea and Mali and also under controlled conditions in a screenhouse in Benin. As shown by low virus content and level of disease incidence, low tiller number and plant height reduction, the transferred gene was fully functional in the new genetic background. Moreover, some lines also displayed a high level of resistance to rice blast (Pyricularia oryzae) and stem borer infestation in Guinea. Four of those lines are in the second year of multi-location trial in seven West African countries. Therefore, effective deployment of the newly developed varieties, coupled with good cultural practices, should reduce the damaging effects of RYMV in lowland and irrigated rice cropping systems and thereby increase the income of small scale farmers from rice cultivation.Thesis (Ph.D.)-University of KwaZulu-Natal, Pietermaritzburg, 2012.
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Meehan, Mitchell Elwin. "A comparison of techniques for screening for resistance to the chinch bug, Blissus leucopterus leucopterus (Say), in sorghum." 1985. http://hdl.handle.net/2097/27497.
Full text
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Kabahuma, Rosemary I. "Genetic aspects of hearing loss in the Limpopo Province of South Africa." Thesis, 2010. http://hdl.handle.net/10539/8566.
Full textAbstract:
The aetiological diagnosis of recessive non-syndromic hearing loss poses a challenge owing
to marked heterogeneity and the lack of identifying clinical features. The finding that up to
50% of recessive non-syndromal genetic hearing loss among Caucasians was due to
mutations in GJB2, the gene encoding Connexin 26 (Cx26) was a breakthrough, whose value
as a diagnostic tool has been limited by the significant variation in the prevalence of deafness
genes and loci among population groups. The significant association of the GJB6-D13S1830
deletion among individuals with one mutant GJB2 allele highlighted the need to explore
population specific genetic mutations for NSHL. Although data from Sub-Saharan Africa is
limited, reported studies found a high prevalence of R143W GJB2 mutation among
Ghanaian, the 35delG mutation in 5 out of 139 Sudanese and a low prevalence of GJB2
variations among 385 Kenyan deaf children. The mutation spectrum of Waardenburg
Syndrome (WS) in Africans has not been documented.
During a visit to a School for the Deaf in the Limpopo Province of South Africa in 1997, it
was noted that a high number of students came from Nzhelele sub-district. All had childhood
onset hearing loss with no associated anomalies or disorders. The question arose as to
whether there was a high-risk area for deafness in the Limpopo Province and what the
aetiology of this hearing loss was.The main aim of this study was to investigate the role of
GJB2, the GJB6-D13S1830 deletion, and the four common mitochondrial mutations,
A1555G, A3243G, A7511C and A7445G, in the African hearing-impaired population of
Limpopo province in South Africa, and to identify the mutation spectrum of the deafness
genes found. The type and degree of hearing loss in this hearing impaired population would
also be assessed. Secondly, this study sought to identify the mutations in a sibling pair with
2
clinical WS and to use the findings in a future study to establish the mutation spectrum of WS
in the African population of the Limpopo province and of South Africa in general.
The study was designed as a two phase study, in which phase 1 was used for hypothesis
formulation and phase 2 was for hypothesis testing. While phase 1 was a descriptive
retrospective case study, phase 2 was a combination of sample survey and prospective
descriptive case study. In phase 1, demographic data of 361 students in two schools of the
deaf in the Limpopo province was analyzed for evidence of areas of high risk populations for
deafness in the province. In phase 2, a group of 182 individuals with genetic non-syndromic
hearing loss (NSHL) and two siblings with clinical WS from two schools for the Deaf in the
Limpopo Province of South Africa were investigated. A thorough clinical examination,
audiological evaluation and urinalysis were done. Mutational screening was carried out in all
184 subjects using genomic DNA using single-strand conformation polymorphism (SSCP),
multiplex polymerase chain reaction (PCR), and direct sequencing for GJB2, and Restriction
Fragment-Length Polymorphism (PCR–RFLP) analysis for GJB6, and SSCP, hetero-duplex
analysis, and direct sequencing of the first 8 exons of PAX3 and all of MITF for Waarenburg
syndrome. Data analysis was by geographical mapping, frequency tables, tests of association
with calculation of odds ratios, and binary logistic regression analysis using STATA and GIS
mapping systems.
The results indicate that there seem to be areas of genuine populations at risk for hearing loss
in the Limpopo province of South Africa, namely Mutale and parts of Makhado and
Thulamela municipalities. In Thulamela (NP343) wards 11-15, 26-30 and 31-35, and in
Mutale (NP 344) wards 6-10, together accounted for 67 (18%) of participants in phase 1, and
33 (18%) of the participants in phase 2 of the study. Mutale municipality in the Vhembe
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district gave with a projected prevalence of at least 13.14 deaf children per 100,000 African
population attending the local school for the deaf.
The observed hearing loss is a genetic, non-syndromic form, which is mainly severe and
severe to profound, although without any clear defining configuration or shape. It is a stable,
non-progressive and prelingual form of hearing loss, implying that this may be a recessive
form of deafness. No identifiable environmental confounding factors or associations were
identified. The deafness is not linked the common known auditory gene mutations in GJB2,
the GJB6-D13S1830 deletion, or the common mitochondrial mutations A1555G, A3243G,
A7511C and A7445G. Severe and profound levels of hearing loss were found in 22.8% and
75% of the cohort respectively, with the majority exhibiting flat (70.1%) or sloping (23.4%)
audiograms that were commonly symmetrical (81.5%). However, as indicated, there was no
clear pattern in the audiological findings overall.
None of the 184 hearing impaired individuals exhibited any of the reported disease causing
mutations of GJB2, including 35delG. There was, however, a high prevalence of two
variants, the C>T variant at position g.3318-15 and the C>T variant at position g.3318-34,
occurring in 21.4% and 46.2% of the deaf cohort respectively. The same variants were found
to occur in 35% and 42.6% of a normal hearing control group (n = 63) respectively,
indicating that these variations are polymorphisms. In three subjects (1.63% of the cohort), a
T>A homozygous variation at position g.3318-6 was detected. Its significance in the
causation of NSSNHL is yet to be determined. The GJB6-D13S1830 deletion was not
detected in any of the participants. None of the four mitochondrial mutations screened for
were found.
4
These results indicate that GJB2 is not a significant deafness gene in the African population
of the Limpopo Province of South Africa and that significant genes for non-syndromic
recessive hearing loss in this population are yet to be found. The geographical clustering of
deafness found in this study, combined with the lack of identifiable common associated
clinical features among the subjects of this study (excluding the WS sibling pair), suggests
that these subjects have a genetic recessive non-syndromal type of hearing loss. In the context
of historical and cultural evidence of consanguinity in this population, a founder effect cannot
be ruled out.
A rare mutation, R223X, previously identified only once out of 470 WS patients, was
identified in the PAX3 gene among the WS sibling pair. A novel silent change GGG>GGT at
amino acid 293, was also identified. These identical findings document, for the first time, a
molecular defect in WS in an African sibling pair, and confirm WS Type I in this family,
which could be found in other WS type I South Africans in the Limpopo Province of South
Africa.
The current study demonstrated that parents of genetically hearing impaired children in these
areas are able to detect hearing loss at an early age, with over 60% suspecting their children’s
hearing loss below 6 months of age. A child-centered management model encompassing all
the areas relevant to childhood deafness/hearing impairment, which takes into consideration
the prevailing logistical and financial constraints of the available healthcare system, is
proposed. The implementation of this model requires a paradigm shift from the current
fragmented model of service delivery to a cohesive patient-centered approach, based on
concrete data from appropriate community based research, in which all the relevant parties
communicate and share resources.
5
It would achieve the goals of early detection and intervention, as well as inclusive education
for all. The relevant health and education policies are already in place and the posts funded.
Equitable implementation of these policies would require appropriate community based
research, as well as improved communication and consultation between the various
stakeholders to ensure an efficient and affordable quality healthcare service for all hearing
impaired South Africans.
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Motseotsile, Baitlhatswi Gaolatlhe. "Reasons for post-conception human immunodeficiency virus (HIV) testing among pregnant women in Gaborone, Botswana." Thesis, 2014. http://hdl.handle.net/10210/12314.
Full textAbstract:
M.Cur. (Midwifery and Neonatal Nursing Care)Free voluntary counselling and testing (VeT) for Human Immunodeficiency Virus (HIV) by the international community and many African states is the entry point into HIV and Acquired Immunodeficiency Syndrome (AIDS) prevention, care, treatment and support. It is therefore worrisome that despite the Botswana government' multiple HIV preventative strategies, of the 56% Batswana who tested for HIV in 2008, only 34% know their status (National AIDS Coordinating Agency, Central Statistics Office & Ministry of Health, 2009:4). Among those who were tested, women outnumbered men, but even these women only had their HIV-status tested when they were already pregnant or when one of their children was suspected to have contracted AIDS, an observation that Hamblin and Reid (1991:4) has made years ago. Ethical standards were followed to conduct a study, the purpose of which was to explore and describe the reasons why women in Gaborone only volunteered to go for vcr of HIV when they were already pregnant, instead ofdoing so before they conceived. An exploratory, descriptive, qualitative and contextual design was used. Participants who met the sampling criteria were interviewed and data was audio-taped before transcription and analysis. An independent coder was involved to confirm the themes and sub-themes before relevant literature was searched. Strategies of trustworthiness were adhered to in the study (Lincoln & Guba, 1985:289-331). Findings revealed that the most significant reason for participants not testing for HIV prior to pregnancy was fear of consequences of an HIV-positive result, such as stigma and discrimination against them by their partners, families and communities should they test HIV-positive, Another reason was the socio-cultural beliefs, norms and values expressed in different forms. However, once they fell pregnant, they had themselves tested because their fear of losing their babies to HIV overruled their fear ofbeing ostracised by anybody else. Based on the findings, guidelines were formulated to assist midwives and HIV and AIDS counsellors to facilitate uptake of vcr of HIV prior to pregnancy among childbearing women and men from as young as +-15 years. Conclusions were drawn and recommendations made concerning midwifery practice, education and possible further research on this topic on a larger scale.
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Watson, Susan Brooks. "Clinical utility and incremental validity of brief screening for traumatic event exposure in female university health service patients." Thesis, 2005. http://hdl.handle.net/10125/11895.
Full textAbstract:
Mode of access: World Wide Web.Thesis (Ph. D.)--University of Hawaii at Manoa, 2005.
Evidence suggests that routine screening of primary care patients for exposure to traumatic life events, and particularly assaultive trauma, may yield both clinical and cost benefits for healthcare systems (e.g., Green, Epstein, Krupnick, & Rowland, 1997; Lecrubier, 2004). However, although advocated by authorities, such screening has yet to be widely adopted. A sample of female university healthcare patients (N = 339) was assessed for exposure to trauma in order to examine several unaddressed issues that may diminish the clinical utility of screening for trauma in primary care patients. First, because the length of the traditional trauma history assessment makes it less acceptable for use in time-pressured primary care settings, the discriminative validity of a brief, self-administered screening question about exposure to trauma, the Structured Clinical Interview for DSM-IV (SCID) posttraumatic stress disorder (PTSD) module's screening question (First, Spitzer, Williams & Gibbon, 1997) was compared to a longer, inventory method of assessment, the Traumatic Life Events Questionnaire (TLEQ, Kubany et al., 2000). Second, because it is unclear whether patients who have experienced assaultive trauma will disclose these experiences when asked in a primary care setting, the relative predictive efficacy of informing respondents that their responses would, or would not be, disclosed to health center personnel was evaluated. Two versions of the brief screening question were assessed across two instructional sets regarding disclosure, to determine each condition's relative classification accuracy for identifying respondents who reported experiences of sexual or physical assault, and/or symptoms of PTSD. The brief screen identified more than three-quarters of the survivors of traumatic assault; and more importantly, identified almost all of the women who reported significant PTSD symptomatology: the inventory method identified only 2 additional women of the 47 who met criteria for PTSD. Although survivors of sexual assault were significantly less likely to disclose their history to their provider, no differences were found for those assault survivors who also reported symptoms of PTSD. Results suggest that a brief screening question about traumatic life events may be an acceptable option in settings where more time-consuming assessment procedures are not practical.
Includes bibliographical references (leaves 83-98).
Electronic reproduction.
Also available by subscription via World Wide Web
x, 98 leaves, bound 29 cm
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Fernihough, Melissa. "Congenital facial deformity : experiences of mothers of twins." Diss., 2011. http://hdl.handle.net/10500/4935.
Full textAbstract:
The topic of cleft lip and/or palate is widely researched in literature. However no research to date has focused on mothers' experiences raising twins when one twin is born with a cleft lip and/or palate. This qualitative study aims to explore the unigue experiences of these mothers. The epistemological foundations of this study are postmodern, social constructionist and systemic. In accordance with a gualitative methodology data was collected in the form of the participants' personal written stories. This was done from a post-modern paradigm, from a systemic perspective. Themes that were extracted from the stories according to thematic content analysis, not only reflect the experiences of mothers raising twins when one twin is born with a cleft lip and/or palate, they also provide an in-depth understanding of these mothers' experiences and unique situations. Recommendations for future research are offered.Psychology
M.A. (Clinical Psychology)
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Ernst, Jody Lynn. "Genetic and environmental influences of maternal psychosocial and antisocial tendencies on the development, stability, and continuity of problem behaviors in adoptees from the Texas Adoption Project: a life course investigation of risk, resilience, and vulnerability." Thesis, 2006. http://hdl.handle.net/2152/3446.
Full text
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Modula, Mantji Juliah. "Nurses' understanding and implementation of mental health screening among HIV infected in Limpopo." Diss., 2016. http://hdl.handle.net/10500/21191.
Full textAbstract:
The purpose of the study was to explore the understanding and implementation of the guidelines by nurses to detect mental disorders in Human Immunodeficiency Virus (HIV) management in the Limpopo Province, South Africa. The study aimed to recommend measures to strengthen implementation practices. Qualitative, exploratory and descriptive approach was conducted. Non-probability purposive sampling was used to select primary health professional nurses trained in HIV programme at primary health care facilities in Capricorn District. Data were collected through focus groups and in-depth individual interviews approach using the interview guide. The interviews started with focus group discussions as primary method and in-depth individual interviews as follow-up. Interviews were tape recorded and transcribed.
Data were analysed using Creswell’s data analysis steps. Four themes emerged from data: understanding of HIV management guidelines; implementation of the guidelines; strengthening of mental health screening and competencies required for mental health screening. The study revealed that the nurses who did not have psychiatric nursing as an additional qualification lacked confidence and skills to conduct mental health screening in HIV positive infected individuals. However, they used their background nursing knowledge to manage clients. They all experienced challenges with information provided in the guidelines to screen for mental health in HIV management.
Based on the results of this study, it was recommended that there should be integration of mental health and HIV and development of practical assessment tools for mental health screening. The study acknowledges the importance of equipping nurses with adequate skills to diagnose altered mental health states among HIV infected individuals.Health Studies
M.A. (Nursing Science)
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Matson, Liana M. "Investigating reactivity to incentive downshift as a correlated response to selection for high alcohol preference and a determinant of rash action and alcohol consumption." Thesis, 2014. http://hdl.handle.net/1805/5964.
Full textAbstract:
Indiana University-Purdue University Indianapolis (IUPUI)Losing a job or a significant other are examples of incentive shifts that result in negative emotional reactions. The occurrence of negative life events is associated with increased drinking, and alleviation of negative emotions has been cited as a drinking motive for individuals with problematic drinking patterns (Keyes et al., 2011; Adams et al., 2012). Further, there is evidence that certain genotypes drink alcohol in response to stressful negative life events (Blomeyer et al., 2008; Covault et al., 2007). It is possible that shared genetic factors contribute to both alcohol drinking and emotional reactivity, but there is a critical need for this relationship to be understood. The first aim of this proposal will use an incentive downshift paradigm to address whether emotional reactivity is elevated in mice predisposed to drink alcohol. The second aim of this proposal will address if reactivity to an incentive shift can result in rash action using a differential reinforcement of low rates of responding task, and whether this response is also associated with a predisposition for high drinking. The third aim of this proposal will investigate if experimenter administered ethanol reduces contrast effects, and if an incentive shift increases ethanol consumption in a high drinking line. The overall goal of this proposal is to investigate whether reactivity to incentive shift is an important mechanism underlying alcohol drinking in these mice, and the role an incentive shift may play in producing rash action and influencing ethanol consumption.