South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
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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. ⋯ This study highlights unique genetic trends for SA populations and the need for more inclusive targeted tests that are optimal for these populations.
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Neuromyelitis optica spectrum of disorders is a rare cause of optic neuritis in children. It is a critical diagnosis requiring urgent management, with delays carrying both life- and sight-threatening complications. Most of the published literature on this entity is in adult patients, with only a few case reports to guide management in the paediatric population. The purpose of this article is to shareour experience in the management of this condition in a child, and thus hopefully add to the limited body of knowledge currently available.
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To fulfil its role, the District Health System (DHS) must enable and lead learning in the South African (SA) health system. Meetings are a core routine that can be leveraged to encourage learning in the DHS. In this article, we draw from existing experiences in SA to present practical steps that can be implemented to transform meetings into spaces of learning.