South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
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Familial hypercholesterolaemia (FH) is usually caused by mutations in three genes (LDLR, APOB and PCSK9). ⋯ These findings contribute to the knowledge of allelic heterogeneity in the spectrum of FH-causing mutations in black SA patients, signifying their ancestral diversity. The relatively low overall detection rate may reflect locus heterogeneity of the FH phenotype in black SA FH patients.
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Fukutin-related protein (FKRP) muscular dystrophy is an autosomal recessive disorder caused by mutations in the FKRP gene. The condition is often misdiagnosed as a dystrophinopathy. A previously unreported mutation, c.1100T>C in exon 4 of FKRP, had been identified in homozygous form in two white South African (SA) Afrikaner patients clinically diagnosed with a dystrophinopathy. ⋯ FKRP mutations may be relatively common in Afrikaners, and screening should be considered in patients who have a suggestive phenotype and test negative for a dystrophinopathy. This test will be useful for offering diagnostic, carrier and prenatal testing for affected individuals and their families. As FKRP muscular dystrophy is autosomal recessive in inheritance, the implications of a positive diagnosis in a family differ significantly from those of an X-linked dystrophinopathy.
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Case Reports
The intraocular CD4/CD8 ratio in a black South African patient with Behçet's disease uveitis.
A 33-year-old black South African male patient was referred to our uveitis service with a 5-year history of panuveitis refractory to treatment. He had an associated history of recurrent mouth and genital ulcers, predating the uveitis history by about 2 years. The measurement of his intraocular CD4/CD8 ratio helped make a diagnosis of Behçet's disease uveitis.
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Immunisations are one of the most cost-effective public health interventions available and South Africa (SA) has implemented a comprehensive immunisation schedule. However, there is disagreement about the level of immunisation coverage in the country and few studies document the immunisation coverage in rural areas. ⋯ Immunisation rates in the rural Eastern Cape are well below government targets and indicate inadequate provision of basic primary care. Stock-outs of basic childhood immunisations are common and are, according to mothers, the main reason for their children's immunisations not being up to date. There is still much work to be done to ensure that the basics of disease prevention are being delivered at rural clinics in the Eastern Cape, despite attempts to re-engineer primary healthcare in SA.
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Paediatric intensive care is a costly, specialised and limited resource in low- and middle-income countries. The implications of extended paediatric intensive care unit (PICU) stay in South Africa (SA) are not known. ⋯ LSPs represent a small proportion of PICU admissions, yet have a higher mortality rate than SSPs and consume disproportionate PICU resources. No predictive model could be established for early recognition of potential LSPs to plan PICU bed allocation effectively.