SAMJ: South African Medical Journal

Media freedom: journal challenges

Harm reduction: more than just side-effects

Corruption busting: a real health threat

Stillbirths: an invisible earthquake

Cutting-edge telemedicine venture freezes as official bodies frown

Helping comrades over the social upliftment line

How different are the costs and consequences of delayed versus immediate HIV treatment?

Tuberculous lymphadenitis and Horner's syndrome

Breaking bad news: ethical dilemmas for doctors attending to Jewish patients

The ancient use of faïence in paediatric illness

Ramesh Chhotu Bhikha

John Hansen

Dilated cardiomyopathy and potentially deadly digoxin

Investigating the health-related quality of life (HRQOL) of surface and underground mine workers at a South African platinum mine

Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: implications for the evaluation of patients with unexplained cardiomyopathy

BACKGROUND: Studies from Europe and North America suggest that 20 - 50% of patients with dilated cardiomyopathy (DCM) may have familial disease. There is little information on the frequency and clinical genetics of familial DCM in Africa. PURPOSE: To determine the frequency and probable mode of inheritance of familial DCM in patients referred for investigation of the cause of DCM at a tertiary centre in Cape Town. METHODS: We conducted a retrospective analysis of consecutive patients diagnosed with DCM between 1 February 1996 and 31 December 2009 to determine the frequency of familial disease. RESULTS: Of 109 unrelated patients with DCM, 29 (26.6%) had familial disease. Their mean age of onset of cardiomyopathy (28.01 (standard deviation (SD) 15.33) years) was significantly younger than that for non-familial cases (39.1 (SD 12.6) years) (p=0.001). Male predominance (N=21, 72.4%) and racial distribution (15 (48.3%) coloured patients, 10 (34.5%) black Africans, 4 (13.8%) white individuals, and 1 (3.4%) of Indian descent) of familial DCM probands were similar to the non-familial cases. Of the 29 patients with familial DCM, 2 (7%) had at least one relative diagnosed with peripartum cardiomyopathy. Pedigree analysis of the 29 families was consistent with autosomal dominant inheritance in 72.4%, autosomal recessive inheritance in 17.2% and X-linked recessive inheritance in 10.4%. CONCLUSIONS: Familial DCM affects at least a quarter of African patients with DCM, presents at a young age, is associated with peripartum cardiomyopathy, and follows an autosomal dominant pattern of inheritance in the majority of families. Family screening for familial DCM is indicated in all cases of unexplained DCM, including patients with peripartum cardiomyopathy.

Clinical characteristics and outcomes of familial and idiopathic dilated cardiomyopathy in Cape Town: a comparative study of 120 cases followed up over 14 years

BACKGROUND: It is not known whether there are differences in clinical characteristics and outcomes of patients with familial and idiopathic dilated cardiomyopathy (DCM) in an African setting. PURPOSE: To compare the clinical characteristics and outcomes of familial and idiopathic DCM. METHODS: We performed a retrospective study of familial and idiopathic DCM at Groote Schuur Hospital, Cape Town, between 1 February 1996 and 31 December 2009. Clinical, electrocardiographic (ECG) and imaging characteristics were compared, in addition to treatment and survival. RESULTS: Eighty patients with idiopathic DCM and 40 familial cases were studied. ECG T-wave inversion was significantly more frequent in familial DCM (87.5%) than in idiopathic cases (68.8%) (p=0.014), whereas idiopathic patients had a higher prevalence of pathological Q waves (32.5%) than familial cases (12.5%) (p=0.028). Cardiac chambers were significantly more dilated with poorer systolic function in idiopathic than familial cases. A mortality rate of 40% after a median follow-up of 5 years was, however, similar in both groups. The presence of New York Heart Association functional class III and IV symptoms was an independent predictor of mortality (odds ratio (OR) 3.85, 95% confidence interval (CI) 1.30 - 48.47, p<0.001), while heart transplantation was an independent predictor of survival (OR 4.72, 95% CI 1.31 - 72.60, p=0.026) in both groups. Digoxin use without serum monitoring was a significant predictor of mortality in idiopathic DCM (OR 1.62, 95% CI 1.04 - 3.98, p=0.037). CONCLUSIONS: Patients with idiopathic DCM have greater cardiac dysfunction than those with familial disease, but mortality is similarly high in both groups. Digoxin use without drug level monitoring may be associated with increased mortality in idiopathic DCM.

Neuroleptic malignant syndrome in adolescents: four probable cases in the Western Cape

BACKGROUND: Neuroleptic malignant syndrome (NMS) is a rare sideeffect of neuroleptic medication. Most NMS reports have been on adults, and the incidence in children and adolescents is unknown. Objective. This report reviews cases of NMS to highlight possible risk factors for the development of NMS in adolescents. METHOD: Four cases of probable NMS in adolescents diagnosed in the Western Cape between February 2009 and March 2010 are presented. RESULTS: Risk factors in the development of the syndrome in adolescents in the Western Cape may be male gender, polypharmacy, the use of zuclopenthixol acetate (clopixol acuphase), a previous history of extra-pyramidal side-effects or NMS, and a history of substance misuse - in particular methamphetamine. CONCLUSIONS: Caution must be applied in the apparent overuse of intramuscular antipsychotics, and especially zuclopenthixol acetate (clopixol acuphase), in neuroleptic-naïve and agitated psychotic adolescents where the short-term use of benzodiazepines is more appropriate.

Interruptions in payments for lay counsellors affects HIV testing at antenatal clinics in Johannesburg

HIV testing uptake at 3 antenatal clinics in Johannesburg was 53% (1 333/2 502) during 4 months when lay counsellors were unpaid, which was lower than the 7 months when payment was provided (79%; 3 705/4 722; p<0.001), and a subsequent 12-month period (86.3%, 11 877/13 767; p<0.001) when counsellors were paid. Consistent remuneration of lay counsellors could markedly improve services for preventing mother-to-child HIV transmission.

Atherosclerotic lesions in the thoracic aorta: a South African anatomical and histological mortuary study

BACKGROUND: Worldwide, the prevalence of cardiovascular diseases such as atherosclerosis is on the increase. Younger people may be especially vulnerable owing to their exposure to risk factors such as drug abuse and HIV. METHODS: The thoracic aortas of 149 South Africans under the age of 50 years were collected at the Salt River Mortuary, Cape Town, and examined macroscopically and microscopically for evidence of anomalies. The sample comprised predominantly males, and included black, coloured and white individuals. RESULTS: A significantly higher level of macroscopic pathology was found in coloured males, although overall prevalence of pathology in this sample was lower than expected. A positive association was also found between body mass index and vascular pathology in the black and coloured population groups. Microscopic anomalies were common and present at high levels, irrespective of age and racial grouping. CONCLUSIONS: The widespread prevalence of microscopic anomalies in all groups suggests that these are normal variations that result from haemodynamic forces. The higher prevalence of atherosclerotic lesions in coloured males, however, probably results from specific genetic conditions such as hypercholesterolaemia or lifestyle factors such as diet or tik abuse. The findings suggest that coloured individuals may be at increased risk of developing cardiovascular disease.

Staphylococcus aureus skin and soft-tissue infections at a tertiary hospital in Botswana

OBJECTIVES: To study the epidemiology of Staphylococcus aureus skin and soft-tissue infections (SSTIs) in hospitalised children and adults in Gaborone, Botswana, and to describe the changes in antimicrobial susceptibilities of S. aureus isolates over time. METHODS: A retrospective cohort study evaluated SSTI isolates from January 2000 to December 2007 at Princess Marina Hospital (PMH), a large tertiary referral centre in Gaborone. Eligible subjects were those hospitalised at PMH during the study period who had a skin or soft-tissue culture yielding a bacterial or fungal pathogen. The primary outcome measure was a skin or soft-tissue culture yielding S. aureus. Secondary outcomes were the organism's antimicrobial susceptibilities. RESULTS: S. aureus was detected in 857 (35.8%) of single-organism SSTI cultures, and 194 (22.6%) of these isolates were methicillin resistant (MRSA). The proportion of MRSA isolates increased over time (linear test of trend: p=0.03 from 2000 to 2003), and MRSA isolates were more likely than methicillin-susceptible isolates to be resistant to commonly used antimicrobials recommended by the national SSTI treatment guideline. CONCLUSIONS: We report a high and increasing proportion of MRSA SSTIs in Gaborone. This high rate of MRSA resistance to currently recommended empiric antibiotics for SSTIs dictates the need for revising national guidelines and ongoing prospective surveillance of SSTIs in this setting.

**Negative association of MC3R variants with weight and blood pressure in Cape Town pupils aged 11 - 16 years**

BACKGROUND: Human and animal studies support the role of MC4R and MC3R in human obesity, but limited data are available on the genetic contribution to obesity in South African populations. OBJECTIVE: To screen obese-overweight South African pupils for MC3R and MC4R polymorphisms that may play a role in the development of obesity. DESIGN: A cross-sectional study screened 227 obese-overweight (115 black and 112 coloured) and 204 normal weight (94 black, 110 coloured) school pupils for the presence of MC4R and MC3R polymorphisms using a single strand conformation polymorphism, subsequent sequencing, and allele specific restriction enzyme analysis. RESULTS: Two polymorphisms were detected in the MC3R (T6K and V81I) but none in MC4R . After adjusting for age, gender and case-control status, the frequency distributions of T6K and V81I genotype and allele varied significantly between the ethnic groups. The frequency of the V81I A allele was significantly lower in coloured overweight-obesity than normal pupils. In coloured pupils, both polymorphisms were associated with obesity indices and total cholesterol. The T6K A allele was also associated with lower blood pressure. Likewise, different T6K-V81I haplotypes demonstrated negative associations with obesity indices and blood pressure. CONCLUSIONS: We demonstrated that the MC3R polymorphisms have a protective effect on metabolic traits; however, further analysis is required to confirm whether this translates to a lower incidence of metabolic syndrome in coloured populations.