School of Clinical Medicine (ETDs)
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Item Clinical presentations, genotypic spectrum, and outcomes of children with primary hyperoxaluria at Charlotte Maxeke Johannesburg Academic Hospital(2024) Erasmus, EmilieBackground: Primary hyperoxalurias (PHs) are a rare group of autosomal recessive disorders involving the overproduction of oxalate which results in renal calculus, progressive nephropathy, and eventual renal failure. Objectives: This study describes the demographics, clinical presentation, genotypic spectrum, determinants of disease severity and causes of death in patients diagnosed with PH, at a tertiary hospital. Methods: Retrospective descriptive review of patients with PH at a single unit, over 20 years. Results: Sixteen patients were identified with a median age at presentation of 7.1 years. Clinical presentations included nephrolithiasis and urinary tract infections (UTI) in six and end-stage kidney disease (ESKD) in five. Eight had a homozygous mutation c.335C>A (p.A112D) while four had a heterozygous mutation. The twelve mutations found were all on the AGXT gene for PH1. The median age of presentation of the four patients with heterozygous mutations was 5.7 years compared to 7.5 years for the homozygous mutation. Thirteen patients (81,3%) received renal replacement therapy (RRT). Eight patients were listed for transplant and six underwent a combined liver and kidney transplant (CLKT). Four patients were still alive at the time of this report and two patients had demised. Conclusion: Nephrocalcinosis was present in all patients, all of whom had PH Type 1. The genotypic spectrum correlated with initial presentations involving the urinary tract. The median estimated glomerular filtration rate (eGFR) was 4.2 ml/min/1.72m2 describing ESKD, however only five presented clinically in ESKD. This emphasizes the importance of screening, education, and earlier detection in our population.Item Patients’ experience of postponement of surgery for an elective caesarean delivery(2024) Dhulab, Jaimal AshokBackground Surgical postponement has been shown to be an indicator of quality of care and management of the operating theatre. In South African government hospitals there are many factors that lead to postponement of surgery such as staff shortages and issues relating to infrastructure. Postponement of surgical procedures results in a misuse of valuable scarce resources. Postponement of surgery may have a significant bearing on the parturient. Patients presenting for elective caesarean delivery are known to be at high risk for developing perinatal anxiety. There is limited research into the experiences of obstetric patients that have been postponed for elective caesarean delivery. Objectives To identify, explore, and relate experiences of patients who have experienced a postponement of surgery for an elective caesarean delivery. Methods A qualitative, exploratory, descriptive and contextual design was followed using phenomenological and observational methods to describe the experience of elective caesarean section delivery patients who were postponed at Rahima Moosa Mother and Child Hospital. Semi-structured, open-ended interviews were undertaken with participants between May 2021 and August 2021. Data saturation was achieved after eight interviews and the data were analysed using inductive thematic analysis. Results A complex interlink of six themes was identified revealing poor communication, which resulted in anger and frustration, as well as fear and anxiety. Patients’ interactions with healthcare workers also brought to light experiences of guilt and disempowerment. Patients indicated that support structures and coping strategies were utilized to maintain a sense of trust and reassurance in the treatment and care that they received. Conclusion Postponement of surgery has detrimental effects on patients presenting for elective caesarean delivery. Early and effective communication may improve patients’ experience of postponement. Inter-professional communication and collaboration among doctors and nurses are key to providing quality patient care.Item Posttraumatic stress disorder in antiapartheid war veterans in South Africa(2024) Mokgatle, BoitumeloBackground Post-Traumatic Stress Disorder in military veterans is well studied in several countries. In South Africa there is a specific group of military veterans who were involved in the fight against South Africa’s apartheid regime. They were not only exposed to military combat trauma but had the additional challenge of fighting against the government and law enforcement at the time. Although apartheid ended thirty years ago, the enduring and intergenerational sequelae of trauma are well-described, and therefore exploring PTSD in this group is important and necessary.14, 5 Aim To explore PTSD in veterans who participated in the fight against apartheid, and to assess their current functional level. Setting Gauteng, South Africa. Methods Military veterans were sourced from the Johannesburg area in the province of Gauteng. A simple random sampling technique was used. Military veterans who were part of apartheidrelated conflicts between 1960 and 1991 were included. Each participant was provided with a 24-item questionnaire to complete. A total of 89 military veterans was included in the study. Results The mean PTSD score was 49.8 and the self-reported rate of PTSD was 91%. Although 57.6% of the sample reported military combat as their index trauma, 6.7% reported it as physical assault. Furthermore 11.3 % reported multiple traumatic indicators and had the highest mean, however this was found to be statistically insignificant (p<0.05). There was an impact on interpersonal and social functioning, and the total rate of unemployment in the sample was over 80%. Conclusion There is a high rate of self-reported PTSD in military veterans who fought against apartheid. Furthermore, there is associated functional impact in relationships and occupational functioning.