South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
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Childhood-onset generalised dystonia is commonly caused by TOR1A mutations and is known to respond well to pallidal deep-brain stimulation (DBS) surgery. The incidence and prevalence of monogenic dystonia in individuals from Africa and specifically of African ancestry are unknown, and no local cases of TOR1A mutation dystonia are found in the literature. ⋯ TOR1A mutations are found in SA patients of black African ancestry, with age of onset and generalisation comparable to those described in international studies. However, onset with cervical dystonia was more common than previously reported. Response to GPi DBS was excellent in all patients.
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Hookah pipe (HP) smoking is perceived as a harmless activity, enjoyed by young adults and high school-going children. Awareness of the health impact of recreational habits, and their intersection with new social norms in the COVID-era, requires critical review. We describe a case series of young HP smokers presenting with secondary polycythaemia with significant clinical sequelae necessitating extensive work-up. HP smoking may lead to acute and chronic carbon monoxide intoxication, with resultant secondary polycythaemia and complications including provoked thrombosis.
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Reports have emerged globally of antimicrobial resistance (AMR) in Neisseria gonorrhoeae and Mycoplasma genitalium infections. In South Africa (SA), there are substantial differences between private and public healthcare with regard to antimicrobial drug prescribing practice, which could affect AMR patterns of private and public healthcare patients. ⋯ We observed high frequencies of ciprofloxacin, penicillin and tetracycline resistance in N. gonorrhoeae and macrolide resistance-associated mutations in M. genitalium in private healthcare sector patients in SA. This finding highlights the need to use diagnostics for sexually transmitted infections and to include the private healthcare sector in antimicrobial surveillance and stewardship programmes.