1,720,956 research outputs found
Adolescent perspectives : genetic counselling, identity development, psychological adaptation, ableism, and peer attitudes in the context of a genetic condition
No full textThe provision of genetic counselling to adolescents with genetic conditions is inherently complex yet has not been a prominent research focus. In this thesis, I aimed to develop a program of research that supports the needs of adolescents with genetic conditions. I hypothesized that an improved understanding of adolescents lived and living experiences would facilitate the development of interventions that enhance available services.
In the first study, I described the empirical findings that represent the genetic counselling field’s understanding of adolescents with genetic conditions. This was achieved by conducting a scoping review which found that most studies assessed adolescents’ knowledge of their genetic condition and communication of genetic risk information; less emphasis was placed on adaptation and lived experiences. This review demonstrated that a systematic reconsideration of the genetic counselling process is needed for adolescents with a genetic condition.
For the second study, I evaluated how a genetic condition influences adolescents’ lives and how this knowledge can be used to improve healthcare interventions. Using a mixed methods approach, I developed a conceptual model which describes the complex identity journeys adolescents’ can take to integrate their genetic conditions into their self-construal and social identities. I also demonstrated how measures of psychological adaptation and illness identity may be useful to assess the state of genetic and disability identity development and determine the need for intervention, especially as it relates to navigating a society that is hampered by ableism.
In the final study, I evaluated the influence of ableism on the lived and living experiences of adolescents with genetic conditions. This was achieved indirectly, by investigating the perceptions of typically developing adolescents towards their peers with genetic conditions in a mixed methods analysis. I demonstrated that opportunities for social and personal interactions in conjunction with improved genetics/genomics literacy may prove to be a useful intervention to address social biases towards their peers with genetic conditions.
These findings underscore the need for healthcare providers, genetic counsellors, educators, and other interested parties to consider ways in which services can be enhanced to address the challenges adolescents may experience in navigating a genetic condition.Medicine, Faculty ofMedical Genetics, Department ofGraduat
Family history and risk assessment in black South African women with breast cancer
No full textBlack South African women who have breast cancer have been found in general to be diagnosed at a younger age, have a more aggressive disease and a poorer prognosis in comparison to their Caucasian counterparts. However, there is a paucity of research related to the manner in which breast cancer is inherited in black South African families. It is also not known whether these individuals harbour deleterious mutations in breast cancer predisposition genes. As 5-10% of breast cancers have been shown to be inherited, in white populations, this study aimed to investigate family history and inheritance of breast cancer in black South African women. It also aimed to evaluate the use and consistency of existing risk assessment models in this population.
A retrospective, file-based analysis of 45 black South African women who were diagnosed with breast cancer before the age of 50 years was performed. The probands were ascertained from the Genetic Counselling Clinic held weekly at the Breast and Plastic Clinic, Chris Hani Baragwanath Hospital. Information was obtained from the subjects’ genetic counselling files as well as the Oncology database that is housed at the Clinic. Information pertaining to the personal breast disease history of the probands as well as their family histories (three generation pedigrees) was entered into a spreadsheet and analysed.
The results of this study indicated that there were very few young black South African women with breast cancer who had a significant family history of cancer (4/45; 9%). Family history is an important factor in assessing an individual’s breast cancer risks. Results also suggested that age at diagnosis may not be an appropriate predictor of inherited breast cancer risk in this population. A significant proportion of black South African women diagnosed with breast cancer younger than 50 years might be proven to have sporadic rather than inherited breast cancers.
Three risk assessment tools (The Claus Model, the Tyrer-Cuzick Model and the Manchester Scoring system) were evaluated in this study. They were shown to have some degree of consistency and each had unique advantages and disadvantages of use within this population. The main limitation of these risk assessment tools is that they were designed based on data from Caucasian populations and as such their applicability to a non-Caucasian population has not been validated. Their true validity within this population can only be established once molecular genetic analysis has been performed.
This study highlights the necessity of molecular genetic screening in this population in order to further delineate which individuals in this population are truly at an increased risk of developing inherited breast cancer. This information is important because it can inform which individuals would benefit from cancer risk assessments and various cancer prevention and reduction strategies. Information obtained from this study will be useful to direct future research in this population with respect to genetic counselling for inherited breast cancer
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Full text linkWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
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