South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
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Coeliac disease (CD) is an autoimmune condition occurring in genetically predisposed individuals exposed to an environmental trigger. The human leukocyte antigen (HLA) haplotypes HLA-DQ2.5 and HLA-DQ8 have the strongest association with CD, and 90 - 95% of CD patients bear these haplotypes. The susceptibility of the South African (SA) population to CD has not been studied previously. ⋯ The prevalence of HLA-DQ2.5 and HLA-DQ8 differed among SA study participants of different ethnicities. However, the notion that CD does not occur in black South Africans owing to lack of a genetic predisposition is incorrect.
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Diabetes mellitus (DM) causes both micro- and macrovascular complications. The cochlea and auditory nerves are therefore at increased risk from DM-related complications due to microangiopathy, neuropathy or mitochondrial damage. Limited data are available from Africa detailing the association between DM and hearing impairment (HI). ⋯ We showed that HI occurs in over half of PLWD, usually within the first 10 years after diagnosis of DM. Symptoms of HI were shown to have positive associations with all HI categories except mild. A high level of vigilance for HI must be maintained in PLWD.
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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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Observational Study
A national retrospective review of neonatal critical care transfers in dedicated critical care transport services in the private sector.
South Africa (SA) has a shortage of dedicated neonatal critical care services, which are mostly concentrated in urban areas, thus illustrating the need for neonatal critical care transport (CCT) services. Neonates who are transported by teams without the requisite experience and knowledge in neonatal care are at risk of severe adverse events during transport. This has led to the development of dedicated CCT teams by some emergency medical services. There is a paucity of national literature describing the neonatal population who undergo CCT in dedicated services. ⋯ This study provides insight into the demographics, most prevalent diagnoses, and interfacility transfer monitoring needs of neonates being transported in SA by two private dedicated CCT services. The results of this study should be used to inform future specialised neonatal CCT courses and qualifications, as well as the scopes of practice of providers transporting neonates.
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A key component of any successful healthcare system is the availability of sufficient, safe blood products delivered in an equitable manner. South Africa (SA) has a two-tiered healthcare system with public and privately funded sectors. Blood utilisation data for both sectors are lacking. Evaluation of blood utilisation patterns in each healthcare sector will enable implementation of systems to bring about more equality. ⋯ We confirmed distinctly different RBC utilisation patterns between the healthcare sectors in SA. Possible drivers for these differences may be healthcare access, differing patient populations and prescriber habits. Better understanding of these drivers may help inform equitable public health policy.