The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide

Established rare disease (RD) biobanks in high-income countries have shown great benefits through their contribution to biomarker discovery, new diagnostic assays and drug development, as well as through facilitating clinical trial participation. Research findings from several South African (SA) studies of inherited metabolic disease (IMD) (a group of diseases within the larger RD group) cohorts, discussed below, exemplify how country-specific genetic diversity can contribute to global knowledge of clinical, biochemical and genetic complexity.

District Health System performance in South Africa: Are current monitoring systems optimal?

South Africa (SA)’s public health system is built on the foundation of the district health system (DHS) and the 1995 DHS policy framework. Monitoring and evaluation (M&E)  systems  are  aligned to the strategic goals and objectives of the health system, and serve to fine tune the health system response on an ongoing basis. M&E systems must be regularly reviewed and adjusted to address challenges, and SA is facing some significant challenges with the fiscal crisis being the most immediate. Budget cuts, starting in the 2023/4 financial year, are projected to intensify over the medium term. Another challenge is the implementation of the National Health Insurance (NHI) Bill. This will require a fundamental reconfiguration of the way the DHS will operate and be managed.

Informal gold miners with mercury toxicity: Novel asymmetrical neurological presentations

Mercury is a highly toxic compound. It has been used for many years in medicine, agriculture and industry, making it a ubiquitous environmental pollutant. The clinical presentation of mercury toxicity depends on the type and quantity of the mercury exposure, and may include neurological, respiratory, renal and gastrointestinal syndromes. The neurological manifestations of mercury toxicity include anxiety, encephalopathy, seizures and cerebellar ataxia. As with most toxin-related neurological syndromes, the clinical deficits are almost exclusively symmetrical in their presentation.

Implementing E-MOTIVE for detection and treatment of postpartum haemorrhage in South Africa

Haemorrhage, mainly postpartum haemorrhage (PPH), is the leading cause of avoidable maternal mortality in South Africa (SA), with 89.5% of haemorrhage deaths being potentially preventable. Successive reports of the National Committee for Confidential Enquiries into Maternal Deaths (NCCEMD) have emphasised that management failures include late detection of PPH and substandard care (‘too little, too late’).

Wrong-route drug administration errors: A review of the literature

The four most common clinical scenarios related to wrong-route administration are the inadvertent administration of oral drug formulations intravenously, the inadvertent administration of enteral feeds intravenously, the inadvertent intra-arterial administration of intravenous medications and the intentional intravenous administration of crushed tablets by intravenous drug users (IVDUs).

Antivirals for the treatment of mild and moderate COVID-19 in South Africa

The COVID-19 pandemic resulted in excessive loss of human life and destabilised healthcare systems, economies and social structures globally. Up to March 2023, over 680 million cases of COVID-19 had been reported globally, with an associated 6.8 million deaths. The  burden  of  COVID-19  has  been  heterogeneously distributed across countries and regions, largely driven  by  disparities  in  social,  economic  and  environmental  factors.

An outbreak within an outbreak: The impact of infection prevention and control strategies on hospital-acquired infections and the occurrence of multidrug-resistant organisms during the COVID-19 pandemic

The coronavirus disease 2019 (COVID-19) pandemic placed an unprecedented strain on intensive care units (ICUs) in South Africa (SA)  and  across  the  globe.  Novel  ways  of  expanding  respiratory support even outside the intensive care environment were described, and infection prevention and control (IPC) strategies were highlighted, both for protection of healthcare workers from infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), but also protection of patients from contracting hospital-acquired infections (HAIs).

Knowledge, attitudes and practices of oral HIV pre-exposure prophylaxis (PrEP) among healthcare workers in the Ekurhuleni District, South Africa

The HIV epidemic remains a global public health threat, despite the gains that have been made over the years to reduce the number of new infections. In 2021, about 1.5 million people were newly infected with HIV worldwide. This suggests that the global public health response is not on course to meet the targets set by the Joint United Nations Programme on HIV/AIDS (UNAIDS) of 370 000 new infections per year by 2025. Instead, it is projected that at the current observed rates, the number of new HIV infections in 2025 will treble the anticipated target.


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South African Medical Journal - December 2023 Vol 113 No 12