Exploration of the impact of genetic counselling and patient support group involvement on retinal degenerative disorders (RDD) patients: a qualitative study

This study explored the experiences of individuals within the clinical genetic service in South Africa, with inherited retinal disease. Methods: This qualitative research was based on a grounded theory approach. Semi-structured interviews were carried out after obtaining approval from the University of Cape Town Research and Ethics committees as well as from study participants themselves. Ten willing individuals were interviewed using an open-ended question guide to extract information about their experiences with vision loss including but not exclusively, concerning participants knowledge about their condition, ability to make decisions and their adaptation experiences. Interviews were audio recorded, transcribed verbatim and a reiterative thematic analysis performed on the raw data. Results: A range of themes and sub-themes emerged from the data that marked participants' experiences from the time of onset of vision loss. The main broad themes include "a roller coaster journey," "learning how to survive," "a genetic condition affecting the back of the eye, and "paving the way forward." Conclusions: The four themes presented in an almost linear fashion, marking a journey patients experienced from the onset of symptoms to the time of the interview. The initial stage of their journey was marked by difficulties and challenges exacerbated by the psychopathological responses reported in this dissertation. This stage was perceived to be prolonged and often extended into adulthood. The messages from the data support a view that the diverse and extended nature of this initial period was due to the limited support this group of participants received from the low vision specialists they consulted with. A significant impression of frustration and disillusionment was experienced by participants on not receiving information and guidance from these health care providers. Various mechanisms of support and control positively influenced patients' learning how to cope and survive their journey with visual impairment. Coping, learning what their condition is, what the causes are and the risks involved for future generations, empowered the participants in this study to obtain a view of a future for themselves and to make relevant decisions and choices necessary to realise the way ahead. Taken together though, continued education was deemed worthwhile

Towards identifying the ADRP gene in a large South African family with retinitis pigmentosa

Bibliography: leaves 162-190.The present study was initiated with the aim of elucidating the molecular genetic basis of the RP phenotype segregating in a large SA family of British origin. The family is one of the largest pedigrees from which DNA is archived in the Department, and the pedigree structure and ADRP phenotype will be discussed in detail in chapter two

A review of recruitment strategies within the Clinical Infectious Diseases Research Initiative (Cidri) Group from 2007-2013, 4 studies

The Clinical Infectious Diseases Research Group [CIDRI] has conducted high impact research over the last decade in Cape Town specifically in the townships of Khayelitsha and Mannenberg. None of this research would have been possible without robust strategies to recruit and retain study participants. Four different completed studies with different study designs have been selected, which will show the different approaches to participant recruitment into clinical research. This review will evaluate this process in relation to the approved protocol recruitment strategy, the amendments, which were required for modifications, the ability to retain participants to the end and the composition of staff used to achieve study outcomes. This entire process has been recognised as a necessary research skill and the term recruitmentology has become a practice pivotal to the research process. Recruitmentology has been unpacked to illustrate how minorities have been recruited, overlooked and over researched in the United States (US), and that experience has given a new perspective to the processes involved. Although in the South African context we do not have the identical issues to the US, these ideas can be translated in our circumstances, as both research populations can be considered as marginalised. We are challenged in the township of Khayelitsha with service disparities, which are generally impacted by the presence of clinical research groups. Although Khayelitsha has three large Day Hospital facilities, a newly built 150 bedded secondary level hospital and 11 local clinics, offering a consistently high standard of care; it remains a challenge. The CIDRI group partnered with the health services, supporting them with extra staff in the way of nurses, doctors and clinical research workers, while in return benefiting from the health system by being able to conduct effective studies. This has been and continues to be a mutually beneficial relationship, as CIDRI has been supportive to health services and the service has been a research partner of many research protocols including one of the studies being reviewed. Through the process of reviewing the databases of these four different CIRDI studies, we can examine the successes, challenges and a possible model of recruitment in the township of Khayelitsha. These studies have been chosen as they have been successfully completed by CIDRI and the databases have been locked. Each study has a different study design, from a pragmatic randomised control study, a cross sectional study, a seasonal follow-up and longitudinal study. Close attention will be paid to proposed recruitment strategy as per approved protocols, amendments (which impacted the recruitment process), staff structure, time frames of recruitment, retention and impact on study outcomes. This review will attempt to answer the following: 1. Was the proposed recruitment strategy followed as per study design and approved study protocol? 2. Was the overall recruitment impacted by staffing structure and allocated recruitment time frames? 3. How were study outcomes impacted by recruitment and retention? 4. Tuberculosis/Human Immuno-deficiency Virus TB/HIV were the diseases of study in all four studies, do these two diseases have specific challenges which impact recruitment and retention

General Relativistic Stars : Polytropic Equations of State

In this paper, the gravitational field equations for static spherically symmetric perfect fluid models with a polytropic equation of state, $p=k\rho^{1+1/n}$, are recast into two complementary 3-dimensional {\it regular} systems of ordinary differential equations on compact state spaces. The systems are analyzed numerically and qualitatively, using the theory of dynamical systems. Certain key solutions are shown to form building blocks which, to a large extent, determine the remaining solution structure. In one formulation, there exists a monotone function that forces the general relativistic solutions towards a part of the boundary of the state space that corresponds to the low pressure limit. The solutions on this boundary describe Newtonian models and thus the relationship to the Newtonian solution space is clearly displayed. It is numerically demonstrated that general relativistic models have finite radii when the polytropic index $n$ satisfies $0\leq n \lesssim 3.339$ and infinite radii when $n\geq 5$. When $3.339\lesssim n<5$, there exists a 1-parameter set of models with finite radii and a finite number, depending on $n$, with infinite radii.Comment: 31 pages, 10 figure

PEER RISK AND PROTECTIVE FACTORS IN ADOLESCENCE: IMPLICATIONS FOR DRUG USE PREVENTION

Evidence-based practice guidelines for drug use prevention with adolescents propose focusing on increasing protective factors and reducing risk factors associated with drug use. The present article reports on a qualitative study undertaken with 10 adolescent drug users and 29 non-users from a historically marginalised community in Port Elizabeth, South Africa. The findings reveal peer risk and protective factors associated with drug use, and offer recommendations for how protective factors can be increased and peer risk factors mobilised as protective mechanisms and sources for promoting resilience in drug use prevention among adolescents.

PARENTS’ EXPERIENCES OF MONITORING THEIR ADOLESCENTS’ COMPLIANCE WITH DIVERSION ORDERS

The Child Justice Act 75 of 2008 makes provision for the diversion of child/adolescent offenders and expects parents to monitor their compliance with diversion orders. This paper examines how parents’ experience fulfilling this role, especially against the backdrop of their reduced influence during the adolescent development phase, following a qualitative study undertaken with 12 parents of diverted adolescents in the Nelson Mandela Bay Metropole. The findings revealed the particular difficulties that parents experienced in monitoring compliance and highlight the specific parental support needs that can be met by social workers and other child justice officials

The state space and physical interpretation of self-similar spherically symmetric perfect-fluid models

The purpose of this paper is to further investigate the solution space of self-similar spherically symmetric perfect-fluid models and gain deeper understanding of the physical aspects of these solutions. We achieve this by combining the state space description of the homothetic approach with the use of the physically interesting quantities arising in the comoving approach. We focus on three types of models. First, we consider models that are natural inhomogeneous generalizations of the Friedmann Universe; such models are asymptotically Friedmann in their past and evolve fluctuations in the energy density at later times. Second, we consider so-called quasi-static models. This class includes models that undergo self-similar gravitational collapse and is important for studying the formation of naked singularities. If naked singularities do form, they have profound implications for the predictability of general relativity as a theory. Third, we consider a new class of asymptotically Minkowski self-similar spacetimes, emphasizing that some of them are associated with the self-similar solutions associated with the critical behaviour observed in recent gravitational collapse calculations.Comment: 24 pages, 12 figure