Browsing by Author "Popel, Kalinka"

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    A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family
    (2021-11-06) Manyisa, Noluthando; Schrauwen, Isabelle; de Souza Rios, Leonardo Alves; Mowla, Shaheen; Tekendo-Ngongang, Cedrik; Popel, Kalinka; Esoh, Kevin; Bharadwaj, Thashi; Nouel-Saied, Liz M.; Acharya, Anushree; Nasir, Abdul; Wonkam-Tingang, Edmond; Kock, Carmen de; Dandara, Collet; Leal, Suzanne M.; Wonkam, Ambroise
    Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in South Africa. DNA samples from a South African family presenting with progressive, autosomal dominant non-syndromic HI were subjected to whole-exome sequencing, and a novel monoallelic variant in REST [c.1244GC; p.(C415S)], was identified as the putative causative variant. The co-segregation of the variant was confirmed with Sanger Sequencing. The variant is absent from databases, 103 healthy South African controls, and 52 South African probands with isolated HI. In silico analysis indicates that the p.C415S variant in REST substitutes a conserved cysteine and results in changes to the surrounding secondary structure and the disulphide bonds, culminating in alteration of the tertiary structure of REST. Localization studies using ectopically expressed GFP-tagged Wild type (WT) and mutant REST in HEK-293 cells show that WT REST localizes exclusively to the nucleus; however, the mutant protein localizes throughout the cell. Additionally, mutant REST has an impaired ability to repress its known target AF1q. The data demonstrates that the identified mutation compromises the function of REST and support its implication in HI. This study is the second report, worldwide, to implicate REST in HI and suggests that it should be included in diagnostic HI panels.
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    Parental perceptions of the educational needs of children with genetic conditions leading to intellectual disabilities
    (2022) Cameron-Mackintosh, Sinead; Wessels, Tina-Marie; Popel, Kalinka
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    Patient perspectives of sickle cell disease care in emergency centres of South African Hospitals
    (2024) Peerbhai, Nabeelah; Popel, Kalinka; Spencer, Careni; Louw , Vernon
    Introduction: Sickle Cell Disease (SCD) is an inherited, chronic blood disorder. Patients affected by SCD experience systemic, life-threatening complications that requires frequent emergency care. Western studies have reported poorer experiences by individuals with SCD when seeking emergency care compared to other chronic conditions. Aim: This study aimed to investigate the perceived experiences of adult patients with SCD who presented for care to the emergency centres of South African hospitals. Methods: A mixed methods approach was used to conduct this research. Participants were recruited from the Sickle Cell South Africa online support group and Groote Schuur Hospital in Cape Town. Surveys were completed by 51 participants and then analysed using both descriptive and comparative statistics. Open-ended interviews were conducted with eight of the participants, which were analysed using thematic analysis. Results: In the last five years, 47.5% of participants visited the emergency centres between two and five times, 29.4% attended more than five times and the remainder attended only once. Most respondents (45.1%) described their recent experience in the emergency centre as average, while 31.4% described their experience as good and 23.5% as poor. Exploring participant confidence levels identified 21.6% of participants felt very confident in the nurses treating them while more participants (33.3%) felt very confident in the doctor treating them. Five themes emerged from the data 1) Knowledge and understanding of SCD amongst healthcare professionals and patients, 2) Treatment in emergency centres, 3) Patient advocacy and support, 4) Emotional and psychological impact and 5) Access to healthcare and care coordination. Participants identified a lack of knowledge and understanding amongst HCPs relating to SCD, which they believe, contributed to delayed care, misunderstanding of the condition, disbelief in their symptoms and ignorance regarding their pain. Notably, participants expressed a higher confidence in doctors' understanding of SCD than nurses', highlighting the need for targeted education interventions. Participants further emphasized the importance of comprehending their own condition and being able to articulate the nature of SCD pain, which may or may not be visible. The treatment received in the emergency centre, such as the urgency of receiving medical care, the essential need for patient-centred pain management, challenges with the triage system and the positive influence of strong physician patient interactions, played a role in the type of experience they had. Self-advocacy and family/social support were important factors when receiving emergency care. Patients developed various coping mechanisms yet expressed the challenge of navigating pain symptoms, anxiety, fear, and uncertainty. Lastly, patients described transport and financial challenges when accessing healthcare services, as well as the need for coordinated healthcare services inclusive of genetic counselling. These results were consistent across both public and private facilities, with no statistically significant difference being noted between the two. Conclusion: Insight into patient experiences can actively involve patients in managing their health to ensure the patient's voice is heard. This research identified factors contributing to patient perceptions, the strengths of emergency care while suggesting potential solutions to better patient satisfaction.
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    Patient Perspectives of Sickle Cell Disease Care in Emergency Centres of South African Hospitals
    (2024) Peerbhai, Nabeelah; Popel, Kalinka; Spencer Careni
    Introduction: Sickle Cell Disease (SCD) is an inherited, chronic blood disorder. Patients affected by SCD experience systemic, life-threatening complications that requires frequent emergency care. Western studies have reported poorer experiences by individuals with SCD when seeking emergency care compared to other chronic conditions. Aim: This study aimed to investigate the perceived experiences of adult patients with SCD who presented for care to the emergency centres of South African hospitals. Methods: A mixed methods approach was used to conduct this research. Participants were recruited from the Sickle Cell South Africa online support group and Groote Schuur Hospital in Cape Town. Surveys were completed by 51 participants and then analysed using both descriptive and comparative statistics. Open-ended interviews were conducted with eight of the participants, which were analysed using thematic analysis. Results: In the last five years, 47.5% of participants visited the emergency centres between two and five times, 29.4% attended more than five times and the remainder attended only once. Most respondents (45.1%) described their recent experience in the emergency centre as average, while 31.4% described their experience as good and 23.5% as poor. Exploring participant confidence levels identified 21.6% of participants felt very confident in the nurses treating them while more participants (33.3%) felt very confident in the doctor treating them. Five themes emerged from the data 1) Knowledge and understanding of SCD amongst healthcare professionals and patients, 2) Treatment in emergency centres, 3) Patient advocacy and support, 4) Emotional and psychological impact and 5) Access to healthcare and care coordination. Participants identified a lack of knowledge and understanding amongst HCPs relating to SCD, which they believe, contributed to delayed care, misunderstanding of the condition, disbelief in their symptoms and ignorance regarding their pain. Notably, participants expressed a higher confidence in doctors' understanding of SCD than nurses', highlighting the need for targeted education interventions. Participants further emphasized the importance of comprehending their own condition and being able to articulate the nature of SCD pain, which may or may not be visible. The treatment received in the emergency centre, such as the urgency of receiving medical care, the essential need for patient-centred pain management, challenges with the triage system and the positive influence of strong physicianpatient interactions, played a role in the type of experience they had. Self-advocacy and family/social support were important factors when receiving emergency care. Patients developed various coping mechanisms yet expressed the challenge of navigating pain symptoms, anxiety, fear, and uncertainty. Lastly, patients described transport and financial challenges when accessing healthcare services, as well as the need for coordinated healthcare services inclusive of genetic counselling. These results were consistent across both public and private facilities, with no statistically significant difference being noted between the two. Conclusion: Insight into patient experiences can actively involve patients in managing their health to ensure the patient's voice is heard. This research identified factors contributing to patient perceptions, the strengths of emergency care while suggesting potential solutions to better patient satisfaction.
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    Young adults' perceptions of the implications of their hereditary, visual impairment: A Cape Town based study
    (2017) Popel, Kalinka; Greenberg, Jacquie; Leisegang, Cody; Düsterwald, Gillian
    In South Africa, approximately 600 000 individuals are visually impaired. Approximately onethird of genetic disorders and syndromes involves the eye, including conditions such as congenital cataracts, glaucoma, albinism, and retinal degenerative disorders. The transition into adulthood of visually disabled individuals is a crucial time, as it lays the foundation for their future. The aim of this research was to explore the level of understanding, perceptions and lived experiences of young adults aged eighteen to twenty-three who are visually impaired due to a genetic cause. A qualitative design, utilizing a phenomenological approach was used for this study. Fifteen participants were recruited through Athlone School for the Blind, the League of Friends of the Blind and Retina SA. In-depth interviews were conducted and data obtained was analysed using thematic analysis. Five themes were identified through this approach indicating the implications of having a genetic visual condition as perceived and experienced by these young adults. Most of the young adults experienced difficulty in understanding their condition and the genetic bases thereof and they had a strong desire to obtain clarity and knowledge via genetic counselling. The community was thought not to understand their situation either. They were unsure of the inheritance risks to future offspring and some indicated that they felt that this was a gamble they were unwilling to take, whilst others would have children. In some instances, their own visual impairment might create obstacles to raising children. Social interactions were greatly impacted and they felt isolated and tried to avoid unpleasant treatment, stigmatization and pity from the community. Intimate relationships were also noted as a challenge. Mobility is a major obstacle due to the incapacity to drive, as well as the lack of disability user-friendly public transportation and a daunting environment. They want to and feel that they can be independent and achieve the same things as sighted individuals, but society and life circumstances often create barriers to this. This research could assist in providing information to create more efficient, patient-centred genetic services and might be informative to various organizations about targeted support to provide these individuals and methods to assist their transition to adulthood.