ORCID Profile
0000-0003-1487-2187
Current Organisation
University of Cape Town
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Publisher: Mary Ann Liebert Inc
Date: 2012
Abstract: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder for which genetic counseling and testing are available in South Africa. The purpose of this study was to assess the utilization of the services available in Johannesburg for diagnostic, predictive, and prenatal genetic testing and counseling for HD and the characteristics of the patients who use them. A retrospective study was conducted using records of patients (n=287) who had genetic counseling and/or testing for HD through the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, between January 1998 and December 2006. Age, gender, number of children, ethnicity, and test results were analyzed. Of the 287 patients included in this study, 77% had diagnostic testing, 20% predictive, and 3% prenatal testing. In the diagnostic group, 47% of subjects tested positive for HD1 and 9% for HDL2 (all Black or of mixed ancestry). Altogether, 66.7% of subjects in the predictive group had testing and 39.5% were positive. In both groups, White subjects were overrepresented. In seven prenatal tests, three fetuses (including a set of twins) tested positive for HD and termination of pregnancy was requested. The HD services for predictive and prenatal testing appear to be underutilized, especially by Black in iduals, possibly because of lack of awareness among these in iduals and among healthcare providers and/or a lower HD prevalence in this group. Recognition of and testing for HDL2 is important in South Africa's large Black population, and HD testing services cannot be considered complete unless testing for both HD1 and HDL2 are undertaken.
Publisher: South African Medical Association NPC
Date: 04-02-2016
Publisher: South African Medical Association NPC
Date: 11-10-2013
DOI: 10.7196/SAMJ.7146
Abstract: The practice of genetic counselling gives rise to many ethical dilemmas, and counsellors need to be familiar with the principles of biomedical ethics. The primary principles include respect for autonomy, beneficence, non-maleficence and justice. A case of identical twins at 50% risk for Huntington's disease, in which only one twin sought predictive testing for this dominantly inherited disease, created several ethical dilemmas. Another case where predictive testing was carried out on two young children, at high risk, by a laboratory at the request of an adoption agency and a doctor, with a view to giving information to the foster parents, also posed many ethical conundrums for the counsellor. The ethical issues that arose in these cases are discussed in this paper.
Publisher: Wiley
Date: 15-08-2014
DOI: 10.1007/S10897-014-9748-X
Abstract: Genetic counselling is offered in erse settings, and patient reactions vary due to differences in personal, family and community beliefs, local healthcare settings, as well as cultural background. Together, these factors influence how in iduals experience genetic counselling. This study aimed to describe and document the experiences of thirteen mothers, with children with Down syndrome, oculocutaneous albinism or haemophilia B, who had received genetic counselling at state hospitals in Johannesburg, South Africa. A qualitative research design drawing on principles of Interpretative Phenomenological Analysis was used. Four voice-recorded focus groups were conducted and the resulting data were analysed using thematic content analysis. Five themes were identified in the data: thrown into the unknown a worthwhile experience a break in communication telling the family and the community and spreading the word. It was seen that genetic counselling cannot be viewed as a singular experience, but rather as one which is influenced by mothers' lived experiences and their interactions with other healthcare services, family and community members. The results from this study showed that genetic services and conditions were poorly understood, that the experience of genetic counselling varied amongst mothers, and on-going patient support is needed particularly when addressing family and community members. Further research is needed to assess what information is valuable to in iduals during genetic counselling and how to deliver this information in a contextually appropriate manner. Greater awareness of genetic conditions is also required amongst communities and healthcare professionals. Valuable insight was gained from this study which can be used to improve local training programmes and genetic counselling services in Johannesburg, and in South Africa.
Publisher: Springer Science and Business Media LLC
Date: 2006
Publisher: Springer Science and Business Media LLC
Date: 21-08-2020
DOI: 10.1038/S41396-020-00742-8
Abstract: Increases in seawater temperature can cause coral bleaching through loss of symbiotic algae (dinoflagellates of the family Symbiodiniaceae). Corals can recover from bleaching by recruiting algae into host cells from the residual symbiont population or from the external environment. However, the high coral mortality that often follows mass-bleaching events suggests that recovery is often limited in the wild. Here, we examine the effect of pre-exposure to heat stress on the capacity of symbiotic algae to infect cnidarian hosts using the Aiptasia (sea-anemone)-Symbiodiniaceae model system. We found that the symbiont strain Breviolum sp. CS-164 (ITS2 type B1), both free-living and in symbiosis, loses the capacity to infect the host following exposure to heat stress. This loss of infectivity is reversible, however, a longer exposure to heat stress increases the time taken for reversal. Under the same experimental conditions, the loss of infectivity was not observed in another strain Breviolum psygmophilum CCMP2459 (ITS2 type B2). Our results suggest that recovery from bleaching can be limited by the loss of symbiont infectivity following exposure to heat stress.
Publisher: Wiley
Date: 31-05-2013
DOI: 10.1007/S10897-013-9606-2
Abstract: Genetic counseling is a growing health profession in South Africa. Training (set up in 1988) and registration are in place, but job creation remains challenging. The aim of the present study was to investigate the roles played by genetic counselors in the provision of genetic services, in South Africa. A questionnaire comprising items on the types of roles they performed was constructed and counselors were asked to make the log-books, in which they recorded their daily counseling activities, available. A check list was drawn up so that relevant information could be collected systematically from these log-books. Then departmental statistics were accessed from the two universities providing genetic services and genetic counselor training. Structured interviews were conducted with the genetic counselors (16 of 23 participated), and data were collected from their completed questionnaires, log-books and the departmental statistics, for the years 2007 and 2008. These data were analyzed and the findings showed that the counselors counseled about one third (39 %) of all the cases seen at genetic clinics per annum, and the total numbers were increasing. They counseled for 57 different genetic disorders, and their clients represented the range of local ethnic groups. They also had educational, research, marketing and administrative roles. They expected to expand these roles and advance the profession in future. Genetic counselors are versatile, playing several significant roles. As these become better recognized, demand for their services should increase, jobs should be created and the service expanded.
Location: Japan
Location: Japan
No related grants have been discovered for Mariko Kishimoto.