South African Medical Journal (SAMJ)
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Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa
Get PDFBackground. Hereditary breast cancer is characterised by the presence of a pathogenic sequence variant passed from one generation to the next. These cancers are aggressive, develop early, and account for 5 - 10% of all breast cancer cases. In South Africa (SA), the common variants that predispose to hereditary breast cancer have been well documented among white patients and form part of screening panels during targeted testing. For non-white patients, common variants are not well understood, and as such, all populations are offered the same test optimised for white patients. This carries a risk of misdiagnosis, the consequences of which include recurrence and increased mortality.
Objectives. To retrospectively describe genetic trends in the black African and Indian breast cancer patients from KwaZulu-Natal Province, SA.
Methods. We reviewed clinical and genetic data of breast cancer and high-risk patients who consulted at Inkosi Albert Luthuli Central Hospital between 2011 and 2021. Inclusion criteria were based on clinical and demographic characteristics as defined by SA clinical guidelines.
Results. Black African patients were young (mean 37.6 years, standard deviation 11.16) and had the majority of triple-negative tumours (37.5%). Indians represented 50% of bilateral breast cancers and of high-risk individuals. We identified 30 pathogenic BRCA1/2 sequence variants, four large genomic rearrangements and 13 variants of unknown significance. Twenty black patients carried 12, 13 white patients carried 4, 25 Indian patients carried 16, and 3 coloured patients carried 3 pathogenic sequence variants. The most frequent variants were BRCA2 c.5771_5774del, p.Ile1924fs among black patients, BRCA2 c.7934del, p.Arg2645fs among white patients, and BRCA2 c.8754+1G>A among Indian patients. None of the founder mutations common in white patients was reported in either black, Indian or coloured patients, which explains why black, Coloured and Indian SA patients consistently test negative during targeted screening.
Conclusion. This study highlights unique genetic trends for SA populations and the need for more inclusive targeted tests that are optimal for these populations
The prevalence of hand pathology in regional orthopaedic hospitals in KwaZulu-Natal: A cross-sectional study
Get PDFBackground. Pathology of the hand causes functional impairment, with downstream effects for patient occupation, and consequently presents a socioeconomic burden. Investigation of the epidemiology of hand pathology in KwaZulu-Natal (KZN) can help reduce the burden of disease. Identifying where the greatest need is can direct patient awareness initiatives, medical training and appropriate allocation of resources.
Objectives. To establish the prevalence of hand pathology at regional hospitals that offer orthopaedic services in KZN, to describe the patients most commonly affected by these pathologies and to identify the most common pathologies.
Methods. A cross-sectional investigation of hospital records and charts of patients presenting for orthopaedic care across all 10 regional hospitals in KZN that offer orthopaedic services was undertaken for 1 week’s duration (June 2022). Patients were categorised into hand pathology (HP) and general orthopaedic pathology (OP) groups, which were each subdivided into trauma and non-trauma subgroups. Demographic details were collected for all patients. For HP patients, additional detail was collected regarding diagnosis, mechanism, admission and management. The prevalence of HP was calculated as a factor of all orthopaedic presentations.
Results. During the investigation, 2 335 patients presented to orthopaedic services. HP represented 21% of these cases. The majority (17%, 406/2 335) were related to trauma and represented 23% of all the traumatic orthopaedic presentations. Distal radius (DR) fractures were the most common hand injury (46%, 188/406) and a large proportion of trauma to the bony elements of the hand were open injuries (23%, 93/406). The remainder of HP cases comprised the non-traumatic group (4%, 91/2 335) and were predominantly infections (68%, 62/91), and many patients with non-traumatic hand pathology required surgery (60%, 55/91) and admission (56%, 52/91).
Conclusion. HP represents approximately one-fifth of all orthopaedic presentations to regional health facilities in KZN offering orthopaedic care, and close to a quarter of orthopaedic trauma occurs in the hand. Based on these findings, targeted efforts to improve community awareness of precautions against trauma to the hand, osteopaenia and hand hygiene are suggested as preventive measures. Medical training should emphasise the appropriate management of DR fractures and hand infections, and resources should be differentially allocated to the management of these debilitating HPs to decrease the burden of disease
An unmet need: Pancreatic beta cell replacement
Get PDFDiabetes mellitus (DM) is a growing public health concern in South Africa (SA) and poses a substantial economic burden on healthcare globally. A century has passed since the discovery of insulin, and despite advances in diabetes management, exogenous insulin remains a primary treatment for type 1 DM, posing challenges of hyperglycaemia and hypoglycaemia. Pancreas transplantation should be considered a treatment for insulin-deficient DM, offering sustained euglycaemia and preventing complications associated with the disease. However, there has been a global decrease in the number of transplants performed. In SA, only a few pancreas transplants have been performed, primarily because of surgical risks and the need for immunosuppression. Islet transplantation is an alternative but faces limitations due to donor scarcity and immunosuppression requirements. This review explores recent progress in pancreas and islet transplants for DM, with the aim of providing insights into expanding treatment options for people with insulin-deficient DM
A tale of two kidneys, and the case for machine perfusion in South Africa
Get PDFExtended-criteria donors (ECDs) are seen as a means of addressing the shortfall in solid-organ availability for transplant. However, the use of ECD kidneys is associated with a greater risk of primary non-function compared with standard-criteria donor kidneys, and a higher discard rate has been described internationally. There seems to be a lack of consensus in the consideration of ECD kidneys for transplant, with reliance often placed on the subjective assessment of individual clinicians. The following case examines the difference in the institutional decision-making process applied to two kidneys from a single donor, and provides an argument for the use of hypothermic machine perfusion in low- to middle-income countries as an efficacious and objective means of assessing ECD kidney suitability
Evaluation of choices and time spent on an open online elective course by undergraduate medical students during the COVID-19 pandemic
Get PDFBackground. The COVID-19 pandemic highlighted the weakness of relying on in-person tuition in higher education. Massive open online courses (MOOCs) have been a successful addition to higher education. In this study, educators had to replace a planned elective in the medical curriculum with an online option during the pandemic. The roles of the competency framework of the Health Professions Council of South Africa (HPCSA) (Leader and Manager, Health Advocate, Professional, Communicator, Collaborator, Scholar, and Healthcare Practitioner) were used to guide its development. This elective emphasised the non-clinical roles of medical practitioners and was offered in 2020 and 2021.
Objectives. To describe the choices of third-year medical students and time spent participating in a modified online elective in 2020 and 2021.
Methods. A descriptive cross-sectional study design was used, involving the participation of 629 medical students. Data were collected and analysed from three primary sources: registration data from LinkedIn Learning, data from the Foundation for Professional Development, and self-reported estimates by students of the average time spent on selected courses. Data included identification of the associated competency acquired. Data analysis was conducted using Python, version 3.10.11.
Results. The course choices of 629 students were analysed. In 2020 there were 300 participants and in 2021 there were 329. All the students had one compulsory inclusion in the elective (Management and Leadership Short Course for Undergraduate Healthcare Students). Students in both years reported spending the most average time on courses related to clinical knowledge (Healthcare Practitioner), followed by financial literacy and management (Professional), diversity management (Collaborator), and priority actions to identify and/or respond to (Health Advocate). The most popular courses related to the Leader and Manager role were around decision-making in human resources, problem-solving, and managing healthcare teams. Based on the top 10 LinkedIn Learning course selections of both cohorts, there appeared to be a preference for courses that were consistent with the role of medical professionals in practice. The most popular LinkedIn Learning course was The Six Morning Habits of High Performers.
Conclusion. Students gravitated toward courses aligned with their role as professional doctors within the HPCSA competency framework. More studies are needed to understand how medical students develop the six non-clinical roles in the HPCSA framework and the effectiveness of MOOCs in a medical curriculum
Characteristics, clinical manifestations and management of leprosy in KwaZulu-Natal, South Africa: A 20-year retrospective study
Get PDFBackground. Although leprosy, a neglected tropical disease, has been eliminated (<1 case per 10 000 population) in South Africa (SA) since 1926, according to the World Health Organization, new cases continue to be reported. The management of leprosy poses several challenges, including patient adherence, education and insufficient training of healthcare practitioners.
Objectives. To describe the biographical profile, clinical manifestations and treatment outcomes in patients with leprosy in KwaZulu-Natal Province.
Methods. This retrospective study aimed to analyse the clinical data of leprosy patients in SA from 2002 to 2022. Data collected included patient demographics, comorbidities, cutaneous and neurological manifestations of leprosy, complications, treatment and adverse reactions. Descriptive statistics were used to summarise the data.
Results. The study analysed the clinical data of 194 leprosy patients from 2002 to 2022. The majority of patients were male and middle aged, with a disproportionate representation of black South Africans. Regarding socioeconomic status, 80% were unemployed and 40% were social grant recipients. Most cases were clustered in urban centres and diagnosed at secondary care facilities, with 15% being HIV positive. The majority of patients (90%) were classified as having multibacillary leprosy. Common symptoms included upper respiratory tract involvement, hair loss and painful nerves, with the face and limbs being most frequently affected. Cutaneous morphology predominantly included plaques and hypopigmented patches, while neurological signs included ulnar nerve tenderness, muscle weakness and sensory deficits. Debilitating neurological complications were found in one-fifth of patients. Despite initiation of multidrug therapy in most patients, a significant proportion (27.3%) did not complete the full course of treatment, and treatment reactions were noted in 33.5% of patients.
Conclusion. These findings emphasise the urgent need for enhanced patient and healthcare worker education, particularly in primary healthcare settings, to improve adherence to treatment, advocate for prophylactic measures and prevent new cases. Achieving leprosy-free status in SA requires the collaboration of many role-players to address these challenges and improve healthcare practices
The prevalence and distribution of malaria in Mpumalanga Province before and during COVID-19 (2017 - 2022)
Get PDFBackground. South Africa (SA) has committed to eliminating malaria by 2028. However, the initial target was set for 2023. Additionally, the ongoing COVID-19 pandemic and the emergence of drug and insecticide resistance have been identified as potential stumbling blocks in the achievement of this goal. The impact of COVID-19 on the prevalence and distribution of malaria in SA is unclear.
Objective. To describe the trends and distribution of malaria before and during the pandemic and its associated lockdown strategies in one of the country’s malaria-endemic provinces, Mpumalanga Province.
Method. A descriptive, retrospective and cross-sectional study was conducted using Mpumalanga provincial malaria case data extracted from the provincial District Health Information System 2. The impact of COVID-19 on the prevalence and distribution of malaria was assessed in Mpumalanga Province between 2017 and 2022 using descriptive trend analysis. Malaria cases before (2017 - 2019) and post- COVID-19 (2020 - 2022) were cross-tabulated using Stata version 17. We used χ2 tests to test for significant differences, set at p<0.05.
Results. During the study period, 25 380 malaria cases were reported, with the majority men (61%) >26 years old, with reported international travel, primarily to Mozambique. Limpopo Province (93%) accounted for most of the locally imported cases. Headaches and fever were the most common symptoms before and post COVID-19, while asymptomatic malaria carriage was higher during and post COVID (p<0.05). Prior to the pandemic reporting of the preferred treatment for uncomplicated malaria, Coartem use was at 53%, declining to 21% thereafter. Although COVID-19-related restrictions on human movement greatly reduced the malaria burden in Mpumalanga Province, the high-risk group (young mobile men) remained unchanged over the study period. Of concern were the marked reduction in the reporting of Coartem doses administered and the increased prevalence of asymptomatic carriage since 2020. The importation of malaria poses one of the biggest challenges to malaria elimination in Mpumalanga Province.
Conclusion. This study highlighted the impact of COVID-19 and its related lockdown restrictions on the delivery of malaria health services in Mpumalanga Province. If malaria elimination is to be achieved, all aspects of the malaria programme must be strengthened urgently. Additionally, the health system and cross-border collaborations must also be strengthened
Urology pathways for the primary care physician
Get PDFUrology provides critical medical treatment that has the potential to save lives and greatly improve quality of life. Although there is a growing need for urological care, South Africa (SA) now faces an unmet need for these services, and junior doctors have limited exposure to urology. SA has a total of 347 urologists who are actively practising and registered with the Health Professions Council of South Africa. This means that there is a ratio of only 0.56 urologists per 100 000 people in the population. The ratio is even more dire if we only include urologists in the public sector. This article offers pragmatic strategies for addressing common urological conditions. These guidelines adhere to international standards and can be adopted at all levels of healthcare, with the exception of a few advanced imaging needs.
Histopathological assessment of AIDS-defining malignancies in the gastrointestinal tract presenting with acute abdomen: Improving diagnostic timeliness and patient care
Get PDFBackground. While a large number of cases in an HIV setting may be attributed to infections, there has also been a rise in HIV- associated malignancies such as Kaposi sarcoma and aggressive B-cell lymphoma.
Objective. To describe the clinicopathological features of cases with acute abdomen secondary to AIDS-defining malignancy in the gatrointestinal tract.
Method. This is a retrospective analysis of all cases presenting with acute abdomen and histologically diagnosed AIDS-defining malignancies of the gastrointestinal tract over a period of 8 years in our centre. Clinicopathological characteristics were retrieved from the laboratory information system. Archived haematoxylin and eosin-stained sections and immunohistochemical stains were reap- praised.
Results. A total of 13 cases, which consisted of 5 males and 8 females, with an average age of 35 years formed the study sample. All the patients were HIV-positive on antiretroviral therapy, and presented with acute abdomen. Intraoperatively, there were five intussusceptions, three strictures, three perforated tumours and two luminal occlusions. Histopathology confirmed five cases of Kaposi sarcoma and eight cases of high-grade B-cell lymphomas. Two patients with high-grade B-cell lymphomas died after surgical intervention.
Conclusion. Expedited histopathological assessment of bowel resection in HIV-infected patients could improve clinical outcomes with early treatment
Early online: A randomised trial comparing preoperative administration of single-dose kefazolin to kefazolin plus metronidazole as prophylactic antibiotics at caesarean section
No full textBackground. Caesarean section is a life-saving procedure which is associated with high rates of maternal and neonatal complications. It has been estimated that globally, 29.7 million births occur by caesarean section annually. The risk of postpartum infection is estimated to be five to ten times higher compared with normal vaginal delivery. Pregnancy-related sepsis was listed as a top-six cause of maternal mortality in the South African Saving Mothers report between 2017 and 2019. Multiple trials have been conducted in an attempt to optimise administration of prophylactic antibiotics in an effort to reduce postpartum infection and maternal sepsis, and current practice guidelines suggest that there is sufficient evidence that extended-spectrum antibiotics, in combination with kefazolin, result in reduction of postpartum infections. Objectives. To investigate the effect of perioperative administration of kefazolin alone compared with kefazolin plus metronidazole on postpartum infection in women undergoing caesarean section at Kalafong Provincial Tertiary Hospital, Pretoria, South Africa.
Method. All patients undergoing emergency or elective caesarean section were randomised and then sequentially numbered in opaque sealed envelopes, which were placed in the caesarean section operating theatre. The intervention group received kefazolin and a sealed envelope with metronidazole. The control group received kefazolin and a sealed envelope with normal saline.Results. A total of 57/1 010 patients (5.64%) had surgical site infections, of which 27 (5.33%) were in the control group, and 30 (5.96%) were in the intervention group (p=0.66). Two patients in each arm (0.40% in the intervention arm and 0.39% in the control arm) underwent laparotomy procedures, while three women (0.60%) in the intervention arm and four women (0.79%) in the control arm underwent hysterectomy procedures. There were no statistically significant differences in all the measured secondary outcomes between the two groups.
Conclusion. The overall sepsis rate in this study was 5.64%. Postpartum infection is multifactorial and there are multiple factors that can be addressed in strengthening the sepsis care bundle. We do not recommend the addition of metronidazole to kefazolin as prophylaxis at caesarean section