Search

Introduction Autoimmune hepatitis (AIH) has scarcely been reported on in patients of black African descent. Similarly, few studies have focused on the relationship between AIH and Human-Immunodeficiency Virus (HIV) infection. Aim We aim to describe the presenting features of AIH from a single referral centre in a Sub-Sahara African setting. We also compare the presenting features of HIV-infected and HIV-uninfected patients. Methods This study was a retrospective chart review. Patients were included if they fulfilled criteria for the International AIH Group simplified score for probable or definite AIH, were 18 years or older at inclusion, and attended the adult Gastroenterology clinic at Inkosi Albert Luthuli Central Hospital (IALCH) for the period 1/1/2015 to 31/12/2020 on at least 2 occasions. Results Forty cases were included, of which 33 (82.5%) were female and 33 (82.5%) were black African. Median age at diagnosis was 26 years. A diagnosis of a coexistent autoimmune disease was made in 22.5% of patients, with Systemic Lupus Erythematosus (SLE) being the most common (12.5%). Sixteen patients were HIV-infected, all of whom were female (p =0.03), with a significantly older age of disease onset as compared to their HIV-uninfected counterparts (median age 38 vs 17.5 years, p <0.001). Conclusion AIH is a disease most commonly affecting young females. Female sex and older age of onset is associated with AIH in HIV-infected individuals.

Letters by Van Niekerk and Khan on article by Lake et al. (Lake L, Kroon M, Sanders D, et al. Child health, infant formula funding and South African health professionals: Eliminating conflict of interest. S Afr Med J 2019;109(12):902-906. https://doi.org/10.7196/SAMJ.2019.v109i12.14336); and response by Lake et al.

Background: The Modification of Diet in Renal Disease (MDRD) and Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equations are two commonly used formulae to estimate glomerular filtration rate (GFR) in adults. The CKD-EPI equation is recommended in current international and local guidelines for the diagnosis and management of chronic kidney disease (CKD), unless an alternative equation has been shown to have superior accuracy. Validation and comparison of the equations in local populations are therefore required. Previous studies have reported on the accuracy of these prediction equations in black South Africans and those of Indian ancestry., Objectives: To evaluate the MDRD and CKD-EPI equations in South African (SA) adults of mixed ancestry., Methods: In all participants, GFR was measured (mGFR) from plasma clearance of 99mTc-diethylenetetraaminepenta-acetic acid (99mTc-DTPA), using a standardised technique. Serum creatinine assays were isotope dilution mass spectrometry traceable. GFR was estimated (eGFR) using the MDRD and CKD-EPI equations, with and without the black ethnicity factor. The agreement, bias, precision and accuracy of each equation was determined., Results: Eighty adults were included (30 male, median age 39 years, median GFR 59 mL/min/1.73 m2). Sixty-eight had a diagnosis of CKD, 10 were potential kidney donors, and 2 were healthy volunteers. Both equations, without the black ethnicity factor, had good agreement with measured GFR. The equations tended to overestimate GFR, with bias of 1.6 and 7.9 mL/min/1.73 m2 for the MDRD and CKD-EPI equations, respectively. The interquartile ranges of the differences were 15.9 and 20.2 mL/min/1.73 m2, and as a measure of accuracy, the percentages of estimates that fell within 30% of the mGFR (P30) were 80% and 72.5% (p=0.18). For identification of individuals with a GFR &lt;60 mL/min/1.73 m2, the sensitivity of MDRD eGFR was 97.3% and that of CKD-EPI eGFR was 97.1%., Conclusions: The MDRD and CKD-EPI equations have shown satisfactory and comparable performance in this SA mixed-ancestry adult population, with the MDRD equation marginally less biased than the CKD-EPI.

Background: Identifying women with gestational diabetes mellitus (GDM) allows interventions to improve perinatal outcomes. A fasting plasma glucose (FPG) level ≥5.1 mmol/L is 100% specific for a diagnosis of GDM. The International Association of Diabetes and Pregnancy Study Groups acknowledges that FPG &lt;4.5 mmol/L is associated with a low probability of GDM., Objectives: The validity of selective screening based on the presence of risk factors was compared with the universal application of FPG ≥4.5 mmol/L to identify women with GDM. FPG ≥4.5 mmol/L or the presence of one or more risk factors was assumed to indicate an intermediate to high risk of GDM and therefore the need for an oral glucose tolerance test (OGTT)., Methods: Consecutive black South African (SA) women were recruited to a 2-hour 75 g OGTT at 24 - 28 weeks' gestation in an urban community health clinic. Of 969 women recruited, 666 underwent an OGTT, and of these 589 were eligible for analysis. The glucose oxidase laboratory method was used to measure plasma glucose concentrations. The World Health Organization GDM diagnostic criteria were applied. All participants underwent a risk factor assessment. The χ2 test was used to determine associations between risk factors and a positive diagnosis of GDM. The sensitivity and specificity of a positive diagnosis of GDM were calculated for FPG ≥4.5 mmol/L, FPG ≥5.1 mmol/L, and the presence of one or more risk factors., Results: The prevalence of overt diabetes mellitus and GDM was 0.5% and 7.0%, respectively. Risk factor-based selective screening indicated that 204/589 (34.6%) of participants needed an OGTT, but 18/41 (43.9%) of positive GDM diagnoses were missed. Universal screening using the FPG threshold of ≥4.5 mmol/L indicated that 152/589 (25.8%) of participants needed an OGTT, and 1/41 (2.4%) of positive diagnoses were missed. An FPG of ≥5.1 mmol/L identified 36/41 (87.8%) of GDM-positive participants. The sensitivity and specificity of the presence of one or more risk factors were 56% and 67%, respectively. The sensitivity and specificity of FPG ≥4.5 mmol/L were 98% and 80%, respectively., Conclusions: Universal screening using FPG ≥4.5 mmol/L had greater sensitivity and specificity in identifying GDM-affected women and required fewer women to undergo a resource-intensive diagnostic OGTT than risk factor-based selective screening. A universal screening strategy using FPG ≥4.5 mmol/L may be more efficient and cost-effective than risk factor-based selective screening for GDM in black SA women.

For several decades, researchers from the South African Medical Research Council have made invaluable contributions towards improving the health of the population through the analysis and interpretation of cause of death data. This article reflects the mortality trends in pre-and post-apartheid South Africa (SA), and describes efforts to improve vital statistics, innovations to fill data gaps, and studies to estimate the burden of disease after adjusting for data deficiencies. The profound impact of HIV/AIDS, particularly among black African children and young adults, is striking, within a protracted epidemiological transition and the current reversals of multiple epidemics. Over the next 20 years, it will be important to sustain and enhance the country's capacity to collect, analyse and utilise cause of death data. SA needs to support development in the region, harnessing new data platforms and approaches such as including verbal autopsy tools in the official system and improving data linkage.

Background: Hair relaxers are used by up to 70% of females of black African ancestry. Occupational safety regulations list a pH ≥10.5 as irritant and a pH ≥11.50 as corrosive to the skin., Objectives: To determine the pH of all relaxers sold on the South African market and whether it is lower in no-lye relaxers and those marketed for children., Methods: Relaxers were purchased from retailers in Cape Town, but more than half (54%) of the 39 brands tested were international. The pH was determined using a benchtop pH meter with an electrode for emulsions. Three pH readings were done over 3 consecutive days for each sample, and the average was used for data analysis. Differences between relaxers were analysed using Kruskal-Wallis, Wilcoxon rank-sum (Mann-Whitney) and two-sample t-tests (p&lt;0.05)., Results: The median pH of all relaxers (calcium hydroxide, lithium hydroxide and sodium hydroxide) was 12.36 (interquartile range 12.10 - 12.62). The active ingredient was sodium hydroxide (lye or caustic soda) in 63% of the total of 121 relaxers (6/76 (7.9%) of these marketed for children). Lithium hydroxide and calcium hydroxide (no-lye) relaxers comprised 17% and 20%, respectively. No difference in pH was found between relaxers marketed for adults and those for children (sodium hydroxide p=0.2703, lithium hydroxide p=0.6787 and calcium hydroxide p=0.1048) or between lye (sodium hydroxide) and no-lye (calcium hydroxide) relaxers (p=0.2740). Furthermore, 64/70 (91%) of sodium hydroxide relaxers for adults and 4/6 (67%) of those for children were sold packaged without a neutralising shampoo., Conclusions: The pH of all the relaxers tested was at levels deemed corrosive to the skin and may contribute to the high prevalence of alopecia in females with afro-textured hair. A review of permissible safe pH levels for cosmetic use is warranted.

Background: An increase in the prevalence of high blood pressure (BP) has been reported globally and in the South African (SA) population., Objectives: To investigate temporal changes in absolute BP levels and hypertension prevalence in the mixed-ancestry South Africans., Methods: Participants were from two independent cross-sectional surveys conducted during 2008/09 (N=928) and 2014/16 (N=1 969) in Bellville South, Cape Town, SA. Participants' eligibility was based on several criteria, including age &gt;20 years and neither bedridden nor pregnant. Data were obtained by administered questionnaires, clinical measurements (BP and anthropometry) and biochemical assessments (oral glucose tolerance tests and cotinine levels). Known hypertension was based on a self-reported history of doctor-diagnosed hypertension and ongoing treatment. Comparison across years was based on the crude prevalence of hypertension as well as direct age-standardised prevalence, based on the SA 2011 mixed-ancestry population distribution, in 10-year age increments., Results: In all, 708 participants (76.3%) in 2008/09 and 1 488 (75.6%) in 2014/16 were female. Between 2008/09 and 2014/16, mean systolic BP increased from 124 to 136 mmHg (absolute mean difference 15 mmHg) and mean diastolic BP from 75 to 85 mmHg (absolute mean difference 9 mmHg) in the overall sample. The prevalence of screen-detected hypertension increased from 11.6% to 24.8%, with a similar increase in males and females, while the prevalence of known cases remained stable. These changes remained significant after adjustment for age and gender., Conclusions: A rightward shift in absolute BP translated into a significant increase in the prevalence of hypertension over time in this population. The predominant increases in screen-detected hypertension suggest that the deteriorating profile was not matched by efforts to detect and manage individuals with higher-than-optimal BP levels.

Background: Melanoma is an aggressive skin cancer with poor survival when diagnosed late. There are important differences in clinical and histological features of melanoma and disease outcomes in people with darker skin types., Methods: A retrospective review of data captured by the National Cancer Registry (NCR) of South Africa (SA) was performed for 2005 - 2013. Data on patient numbers, demography, location and biological features were analysed for all records. Closer analysis of melanoma of the limbs reported in black Africans was done after manually collecting this information from original reports., Results: With 11 784 invasive melanomas reported to the NCR, the overall incidence of melanoma for SA was 2.7 per 100 000. Males (51%), individuals aged ≥60 years (48%) and the anatomical sites of lower limb (36%) and trunk (27%) were most commonly affected. Melanoma incidences in the white and black populations were 23.2 and 0.5 per 100 000, respectively. Most cases were diagnosed at private pathology laboratories (73%). Superficial spreading melanoma (47%) and nodular melanoma (20%) predominated. Among 878 black Africans diagnosed in the public sector with melanoma of the limbs, females (68%) and individuals aged ≥60 years (61%) were most commonly affected. Lower-limb lesions (91%) and acral lentiginous melanoma (65%) predominated, with 74% of cases affecting the foot and 62% of cases presenting with a Breslow depth &gt;4 mm., Conclusions: This study provides up-to-date NCR incidence and demographic data on melanoma and highlights the neglected research gaps in relation to melanoma in black Africans to provide evidence needed to address health disparities in overlooked population groups.

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.

Background: Apolipoprotein B mRNA-editing catalytic polypeptide like-3G (APOBEC3G) is an antiviral enzyme that reduces viral fitness by introducing uracil to thymidine hypermutations in viral genomes. Thus, polymorphisms in the APOBEC3G gene have been implicated in differential outcomes of HIV infection and disease progression. However, there is insufficient evidence on the role of APOBEC3G gene variants on HIV infection, especially in African populations. This study therefore describes polymorphisms in the APOBEC3G gene in a Zimbabwean paediatric population and evaluates their effects on susceptibility to HIV infection among children born to HIV-infected mothers. Methods. A total of 104 children aged between 7 and 9 years, comprising 68 perinatally exposed to HIV (32 born infected (EI) and 36 born uninfected (EU)) and 36 unexposed and uninfected (UEUI) controls were recruited. Allelic variants (n=5) in the APOBEC3G gene were characterised. Results. Frequencies for minor APOBEC3G alleles in the HIV-uninfected groups (EU and UEUI) were c.557G (40%), g.-90C (32%), g.-571C (12%), c.467-85C (42%), and c.582-162G (6%). APOBEC3G c.467-85C frequency was statistically significantly different when compared to the Masai of Kinyawa, Kenya population (42% v. 18%). None of the single nucleotide polymorphisms individually or as part of haplotypes were significantly associated with HIV infection when comparing the EI and EU groups. Conclusions. Our findings suggest that APOBEC3G polymorphisms alone may not have significant predictive power for inferring genetic susceptibility to vertical transmission of HIV in children perinatally exposed to HIV.

Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger and wrist fractures following minor trauma. The radiological findings revealed abnormally broad metaphyses of the tubular bones, known as Erlenmeyer-flask bone deformity, and mild cranial sclerosis, both hallmarks of the condition. We report the first case in a patient with African ancestry, which could help in the gene discovery of this rare autosomal recessive skeletal dysplasia with unknown mutations.

Background: Osteogenesis imperfecta is a heritable disorder of bone connective tissue. Type III has a high incidence in the black pop-ulation of South Africa. Affected people experience numerous fractures, bone pain and progressive disability. Until the introduction of bisphosphonates to reduce fracture incidence, treatment revolved around orthopaedic and supportive care. Objective. To assess the subjective attitude of patients towards pamidronate treatment., Methods: Thirty black patients with osteogenesis imperfecta type III treated at Universitas Hospital were approached and 26 were included in this study. Patients or their parents were interviewed using a standardised researcher-administered questionnaire, either in person or by telephone., Results: Most patients reported a reduction in symptoms, a feeling of increased wellbeing, increased strength and rated the pamidronate treatment highly. The intravenous route of administration and the side-effects experienced were bearable. Overall all patients would recommend this treatment to other affected persons., Conclusion: This is first study to look at bisphosphonate treatment for osteogenesis imperfecta type III in black South Africans. The treatment is well tolerated and highly rated by the patients. Reported improvements and side-effects are similar to those reported in other populations. Using this form of treatment in this population is supported by these findings.

Background: Before the 1930s, squamous cell carcinoma (SCC) of the oesophagus was almost unknown among black South Africans. From the 1930s the annual frequency rose. A dietary cause was sought, the staple diet of black people having changed from sorghum to maize (corn), with traditional beer being brewed from maize. Carcinogenic N-nitrosamines in traditional beer were suggested as a cause of SCC of the oesophagus, with Fusarium moniliforme, a corn saprophyte, thought to play a role., Objectives: To confirm the presence of N-nitrosamines in traditional beer and demonstrate a mechanism for the oncogenesis of oesophageal carcinoma., Methods: Analysis by high-performance liquid chromatography was conducted for the identification of nitrosamines in traditional beer samples, and molecular docking studies were employed to predict the affinity between N-nitrosamines and the S100A2 protein., Results: Carcinogenic N-nitrosamines were identified in all six samples of traditional beer examined (N=18 analyses), and docking studies confirmed a high affinity of the nitrosamine N-nitrosopyrrolidone with the S100A2 protein. This may result in the altered expression of the S100A2 protein, leading to tumour progression and prognosis., Conclusion: It is suggested that carcinogenic N-nitrosamines in traditional beer are a major factor in the causation of SCC of the oesophagus in black South Africans. N-nitrosamines have been shown to produce cancer experimentally, but there has not been conclusive epidemiological evidence that N-nitrosamines are carcinogenic to humans. This study is the first to demonstrate the potential link between N-nitrosamines and a human tumour.

Introduction: There are few published data from South Africa (SA) on the outcomes of black HIV-positive patients receiving chronic haemodialysis., Methods: This retrospective study compared the incidences of vascular and infectious morbidity and mortality in black HIV-positive patients with those in a group of HIV-negative patients matched for ethnicity, age and gender. All the patients were receiving chronic haemodialysis in the medically insured healthcare sector of SA., Results: The incidence of tuberculosis and hospital admission rates for vascular access-related infections were significantly higher in the HIV-positive group than the HIV-negative group. The HIV-positive group had significantly lower albumin (p&lt;0.05) and haemoglobin levels (p&lt;0.01), but this did not impact on mortality. Survival in both groups was excellent. In the HIV-positive group, viral suppression rates were suboptimal with &lt;50% of patients on antiretroviral therapy completely virally suppressed., Conclusion: This study has shown that black HIV-positive patients receiving chronic haemodialysis in a healthcare-funded environment in SA have excellent overall survival in spite of higher hospital admission rates and higher infectious morbidity compared with HIV-negative patients.

Background: Afrikaners are a unique ethnic group in South Africa (SA) with well-documented ancestral records spanning a period of over 350 years. They are mainly descended from Dutch, German and French settlers to SA in the 17th and 18th centuries. Today several disorders in this population occur at relatively high frequencies as a result of founder effects.Objective. To determine whether a founder effect for Parkinson's disease (PD) is present in the Afrikaner population., Methods: Study participants were recruited from the Movement Disorders Clinic at Tygerberg Hospital in Cape Town, SA, and from support groups of the Parkinson's Association of South Africa. Standard methods for genealogical research in SA on hereditary diseases were used including interviews and searches in sources such as state archives, the Huguenot Museum in Franschhoek, marriage and baptismal records, and tombstone inscriptions., Results: For 40 of the PD families, there was only a single most recent ancestral couple common to all of the families. On average there are between three and four ancestral lines to the founder couple per proband (range 1 -14)., Conclusion: If genetic studies confirm the presence of a founder effect for PD in Afrikaners, this would imply that there is a large number of individuals from this ethnic group who may potentially be at risk of developing this debilitating condition. This study illustrates and reinforces the concept that genealogical analysis is a powerful tool for identification of founder effects for various disorders in the Afrikaner population.

Background: Fanconi anaemia (FA) is an autosomal recessive, genetically heterogeneous disorder, characterised by interstrand crosslink-induced chromosome breaks, congenital abnormalities and predisposition to malignancies. It has a prevalence of about 1/40 000 in black South Africans (SAs). A founder mutation in the FANCG gene occurs in the homozygous state in 77.5% of southern African blacks., Objective: To locate additional pathogenic mutations in the FANCG gene of black FA patients who were heterozygous for the founder mutation. Methods. Further mutation analysis of the FANCG gene was undertaken in 7 patients clinically suspected of having FA. The parents of two of the patients were tested for the presence of the founder mutation to determine true heterozygosity in the patients. To clarify whether or not previously unreported variants were pathogenic, 58 random black SA individuals were screened., Results: Three novel single base pair deletions, resulting in frameshift mutations (c.247delA, c.179delT and c.899delT) were identified in 3/7 patients. A fourth patient was found to have a single base substitution resulting in a splice site mutation (c.1636+1G>A). The remaining three patients were not found to harbour any pathogenic mutations. Two non-pathogenic variants were also identified among the seven patients., Conclusion: The results of this small sample suggest that a second common mutation in the FANCG gene is unlikely in this population. However, FANCG sequencing should be performed on patients heterozygous for the common founder mutation to attempt to confirm their diagnosis.

Paediatric multiple sclerosis (MS) represents a particular MS subgroup with unique diagnostic challenges. Due to the narrow window of environmental exposures and clinical disease expression, children with MS may represent an important study population for gaining a better understanding of the pathogenesis of the disease. The International Paediatric MS Study Group (IPMSSG) was formulated to clarify the diagnostic and therapeutic dilemmas in this population. This guideline was adapted from the International Paediatric Multiple Sclerosis Study Group guideline and endorsed by PANDA, South Africa.

Before making a diagnosis of multiple sclerosis (MS), it is imperative that alternative diagnoses are considered and excluded. This is particularly important in South Africa, which is a moderate prevalence MS area, has a high burden of neurological infections and where the majority of the people are black - an ethnic group that has a very low frequency of MS. Before applying diagnostic criteria, there should be no better explanation for the patient's presentation. This guideline, written on behalf of the Multiple Sclerosis Society of South Africa, aims to assist in the diagnosis and treatment of MS in Southern Africa.

Objective: The coloured population has the second-highest prevalence of diabetes in South Africa. However, the data were based on a study conducted almost 20 years ago in a peri-urban coloured population of the Western Cape. We aimed to determine the prevalence of diabetes mellitus and metabolic syndrome in an urban coloured population in South Africa., Design: In a cross-sectional survey, 642 participants aged ≥31 years were drawn from an urban community of Bellville South, Cape Town, from mid-January 2008 to March 2009. Type 2 diabetes was assessed according to the WHO criteria, and metabolic syndrome was based on the International Diabetes Federation (IDF), ATP III and 2009 Joint Interim Statement (JIS) definition., Results: The crude prevalence of 28.2% (age-adjusted 26.3%, 95% confidence interval (CI) 22.0 - 30.3) for type 2 diabetes was: 4.4% (age-adjusted 3.2%, 95% CI 1.6 - 4.9) for impaired fasting glycaemia, and 15.3% (age-adjusted 15.0%, 95% CI 11.4 - 18.6) for impaired glucose tolerance. Undiagnosed type 2 diabetes was present in 18.1% (age-adjusted 16.8%, 95% CI 13.3 - 20.4). The crude prevalence of metabolic syndrome was higher with the JIS definition (62.0%) than the IDF (60.6%), and the National Cholesterol Education Program (NCEP) ATP III (55.4%). There was good overall agreement between the MetS criteria, k=0.89 (95% CI 0.85 - 0.92)., Conclusion: The prevalence of diabetes has increased hugely in the coloured community, and the high prevalence of undiagnosed diabetes portends that cardiovascular diseases might grow to epidemic proportions in the near future in South Africa.

Background: Traditional circumcision is practised among some indigenous tribes in South Africa (SA) such as the Xhosa. Recent experimental evidence has demonstrated the benefits of male circumcision for the prevention of HIV infection in heterosexual men. The acceptability of circumcision as a biomedical intervention mirroring an ingrained cultural practice, as well as the age and extent of the procedure, are poorly understood., Methods: Men aged 15 - 42 years were recruited in a peri-urban settlement near Cape Town. Participants completed an interviewer-administered questionnaire assessing self-reported circumcision status, context and reasons for previous or planned circumcision, and willingness to undergo medical circumcision for themselves or their sons. Results were confirmed by clinical examination. The most recent HIV test result was compared with circumcision status., Results: Of the 199 men enrolled, 148 (74%) reported being traditionally circumcised; of the 51 not circumcised, 50 were planning the traditional procedure. Among men self-reporting circumcision, 40 (27%) had some or all of the foreskin remaining. The median age at traditional circumcision was 21 years (interquartile range 19 - 22 years). While knowledge of the preventive benefit of circumcision was reported by 128 men (66%), most were unwilling to undergo medical circumcision or allow their sons to do so, because of religion/culture, notions of manhood, and social disapproval., Conclusion: Almost all men in this study had undergone or were planning to undergo traditional circumcision and were largely opposed to the medically performed procedure. In the majority, traditional circumcision had occurred after the mean age of sexual debut and almost a quarter were found to have only partial foreskin removal. To ensure optimal HIV prevention benefits, strategies to facilitate complete foreskin removal prior to sexual debut within traditional circumcision practices require further attention.

Objective: Reflecting on its role during apartheid, the University of Cape Town (UCT) Faculty of Health Sciences undertook a study to explore the experiences of black alumni who trained in the period 1945 - 1994., Design: Seventy-five black alumni were selected through purposive and snowball recruitment, resulting in 52 face-to-face and 23 telephonic or postal interviews., Results: Experiences of racial discrimination were widely reported and respondents believed the quality of their training was adversely affected. Until 1985, black students were required to sign a declaration agreeing to excuse themselves from classes where white patients were present. Black students were denied access to white patients in wards, and the university admitted that it could not guarantee their clinical training. Tutorial groups were racially segregated. Black students were also excluded from university facilities, events and extramural activities. Themes that emerged were: lack of social contact with white staff and students during training, belief that white staff members actively or tacitly upheld discriminatory regulations, and resistance by black students. Efforts of some white staff to resist discrimination were acknowledged., Conclusion: Racism was entrenched explicitly and implicitly. Perceptions of the attitudes of white staff to apartheid legislation on the part of black alumni were diverse, ranging from claims of active support for racial discrimination to recognition of attempts to resist racist rules. These findings provided the basis for faculty transformation initiatives based on human rights, respect for human dignity and non-discrimination.

Despite available guidelines on indications for fresh-frozen plasma (FFP) transfusion, inappropriate use is increasing worldwide. We evaluated FFP administration to patients admitted to the Steve Biko Academic Hospital over 4 months, including indications for use and completeness of requisition forms. Transfusions were considered inappropriate for 39.5% of units administered. Of request forms submitted, only 22% had sufficient information for the blood transfusion services of the indication for transfusion. Transfusion with FFP is a medical intervention that carries risks and should be undertaken with care. Although this study was conducted in one centre, it is evident that clinicians' lack of knowledge of the indications for administration of FFP is widespread. Intervention is necessary to improve patient outcomes and reduce expenditure.

Objectives: To determine asthma and allergy phenotypes in unselected urban black teenagers and to associate bronchial hyper-responsiveness (BHR) with asthma, other atopic diseases and allergen sensitisation., Methods: This was a cross-sectional study of 211 urban high-school black children of Xhosa ethnicity. Modified ISAAC questionnaires regarding asthma, eczema and rhinitis were administered. BHR was assessed by methacholine challenge using hand-held nebulisers. Skinprick tests (SPTs) were performed for 8 aeroallergens and 4 food allergens., Results: Asthma was reported in 9%, and 16 % demonstrated BHR. Rhinitis was reported in 48% and eczema in 19%. Asthma was strongly associated with BHR. Asthma was associated with eczema whereas BHR was associated with rhinitis. SPTs were positive in 34% of subjects, aeroallergens in 32%, and food allergens in 5%. The most common sensitivities were to house dust mites (HDM) and German cockroach. BHR was associated with sensitivity to any aeroallergen, cat, HDM, cockroach and bermuda grass. The number of positive SPTs was associated with asthma and BHR. With each level of SPT positivity, there was 40% increased prevalence of asthma and 70% increased prevalence of BHR. The rate of allergen sensitisation in subjects with BHR (72%) was much higher than those without BHR (28%); house dust mite sensitivity was 69% in subjects with BHR and 18% in those without., Conclusions: These are the highest rates of allergen sensitisation in subjects with BHR documented in an African setting and the widest difference in sensitisation rates between subjects with and without BHR.

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.

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.

Objective: Phaeochromocytomas are catecholamine-secreting tumours, the majority of which arise from the adrenal medulla. Untreated, they are potentially lethal; early diagnosis and treatment offer a good chance of cure. They are rarely reported in blacks. The clinical presentation and outcome of phaeochromocytoma in a large cohort of black South Africans is reviewed., Methods: Patients' records in a tertiary care university hospital were reviewed. Fifty-four black patients presenting with phaeochromocytoma between 1980 and 2009 were included. The clinical presenting features, tumour localisation and outcome were assessed., Results: Fifty-four (41 female, 13 male; age range 8 - 57 years) patients were identified. Five (9%) had familial syndromes; 49 (91%) were deemed sporadic. All tumours were intra-abdominal: 34 (61%) were adrenal and 22 (39%) extra-adrenal in origin. The most common symptoms were headache (77%), palpitations (77%), and sweating (74%). All were hypertensive, almost equally divided between paroxysmal and sustained hypertension. Six (11%) presented in congestive cardiac failure including 2 with catecholamine-induced myocarditis. Two patients had features which simulated hypertrophic obstructive cardiomyopathy. Nine women presented in pregnancy: there was no maternal mortality; fetal mortality included 1 early neonatal death and 1 intrauterine death. There were 4 deaths: 1 from postoperative haemorrhage, 1 from multisystem crisis, 1 from metastatic medullary thyroid carcinoma, and 1 from catecholamine-induced myocarditis., Conclusion: Phaeochromocytoma is an important although rare tumour in blacks, with similar clinical presentations and complications to those in white patients. Timely diagnosis and appropriate treatment resulted in a favourable outcome in over 90% of patients in this study.

The research objective was to gather and collate data that will enable dermatologists to quantify exposure to solar radiation so that they can give accurate advice to patients using heliotherapy, thereby minimising harm from sun exposure. Other patients can also be advised regarding ultraviolet index (UVI) and sun safety. The concept of minimal erythema dose per hour (MED/h) may be useful in future research into solar radiation and its effects on skin cancer.

Objective: Recent advances in full blood count and CD4 technology, coupled with the changing population demographics of the Gauteng region, have necessitated reevaluation of the reference ranges currently in use., Methods: A cross-sectional study of 631 female and 88 male HIV-negative participants from the Gauteng region was performed. Full blood count, automated differential and CD4 count analyses were done using the latest internationally accepted technology. Reference ranges were compiled from the 2.5th and 97.5th percentiles for both male and female participant groups, and gender and ethnic comparisons calculated by non-parametric tests., Results: Results of 41 females were removed from the statistical analysis because their results were suggestive of possible anaemia. Full blood count reference interval comparison confirmed gender-specific differences in red blood cell and platelet parameters. Ethnic-specific differences were found for some red blood cell parameters in the black female cohort. In addition, black males and females both generally had lower neutrophil and higher lymphocyte counts than a combined Asian/Caucasian/coloured ethnic group., Conclusion: Comparison of the currently calculated reference ranges with published data and reference values in use indicated that a separate ethnic-specific reference range should be introduced for the percentage/absolute neutrophil count and percentage lymphocytes. In addition, locally derived reference ranges for red cell distribution width (RDW) and CD4 percentage of lymphocytes should be implemented for routine diagnostic testing.

Objective: To determine wrist and hand involvement in black South African patients with rheumatoid arthritis., Methods: Larsen scoring of the wrist and hand was done in 75 patients. The mean finger score was 9.67 (range 0 - 100) on the left hand and 10.3 (range 0 - 100) on the right. Scores for the wrists were 2.5 (range 0 - 5) for the left and 2.7 (range 0 - 5) for the right., Conclusion: Finger and thumb involvement were considerably less in the South African black population than in other series consisting mainly of white patients.

Unlabelled: Objectives. To record the age-specific incidence rate (ASIR) for diagnosed acute lymphoblastic leukaemia (ALL) in coloured and white children aged 0 - 12 years in the Western Cape (WC)., Design: A retrospective population-based study using the 1991 population census to calculate the mean annual childhood population and the ASIR for ALL in the 0 - 4, 5 - 9 and 10 - 12-year age groups in rural and Cape Town metropolitan areas for the period 1983 - 1999. Odds ratios were calculated using EpiInfo 2000., Setting: Registry records of the paediatric cancer units at Tygerberg and Red Cross War Memorial Children's hospitals where all children with ALL in the WC were initially treated., Subjects: All white and coloured children aged 0 - 12 years diagnosed as having ALL from 1983 - 1999., Outcome Measures: The ASIR by age and ethnic group in rural and metropolitan patients in the WC., Results: The estimated annual childhood population in 1991 was 709 151 with 80.4% coloured and 19.6% white children, of whom 60% were resident in the Cape Town metropolitan area and 40% in the rural area of the WC. Of 246 children with ALL diagnosed in the period 1983 - 1999, 144 were male and 102 female. The ASIR in coloured children aged 0 - 4 years was 17.1/10(6) in the rural and 30.5/10(6) in the metropolitan area, compared with 55.7/10(6) and 56.2/10(6) respectively in white children. In the 5 - 9-year age group the ASIR in coloured children was 10.0/10(6) in the rural and 16.6/10(6) in the metropolitan area compared with 27.6/10(6) and 26.7/10(6) respectively in white children. The 10 - 12-year age group had comparable incidence rates in both populations and geographical areas. Only one case occurred within a 20 km radius of the Koeberg nuclear reactor., Conclusions: White children have an ASIR for ALL comparable to rates of diagnosis in the USA, while only half as many coloured children aged 0 - 9 years were diagnosed in both the rural and metropolitan areas. This contrast may indicate significant underdiagnosis of ALL in coloured children over the period in question. The change in health policy since 1994, which has improved access to primary health care, may improve the rate of diagnosis among coloured and black children.

Objectives: To determine the value of ankle and toe blood pressure indices and pedal pulse palpation in the assessment of peripheral arterial disease in subjects with type 2 diabetes mellitus (DM)., Design: Cross-sectional study., Subjects: A convenience sample of 85 female subjects with type 2 DM underwent a series of peripheral vascular assessments at the diabetes clinic of a community hospital., Outcome Measures: Palpation of the pedal pulses, Doppler-derived ankle brachial systolic blood pressure indices, photo plethysmographic-derived toe brachial systolic blood pressure indices and antero-posterior radiographs of both feet., Results: Mean values were 1.15 (standard deviation (SD): 0.17) and 0.76 (SD: 0.17) for ankle brachial index (ABI) and toe brachial index (TBI) respectively. The differences between the two indices increased from 0.36 (95% confidence interval (CI): 0.32-0.41) to 0.58 (95% CI: 0.46-0.70) depending on whether ABI was less or greater than 1.3. The correlation coefficient for left versus right foot was 0.62 and 0.71 for ABI and TBI respectively. The relationship between ABI and TBI is non-linear with a cut point close to 1.3. Both ABI and TBI were significantly lower in subjects who had both pedal pulses absent on palpation., Conclusions: The relationship between ABI and TBI is linear below an ABI of 1.3. but with a wide 95% prediction interval. If both pedal pulses are absent the ABI is significantly diminished compared with when both pulses are present, even though not necessarily below 0.9.

There is an evident need for standardised, internationally recognised instruments to measure health-related outcomes that are also locally applicable. The European Quality of Life 5-Dimensions (EQ-5D) is a widely used measure of health-related quality of life (HRQoL) that was translated into Xhosa. This communication outlines some of the different cultural and linguistic issues that had to be addressed during the translation process. The translation guidelines provided by the EuroQol group were followed. This involved both forward and backward translations by Xhosa speakers, with consensus meetings after each. Thereafter, lay panel respondent testing of the consensus version was performed. Eventually a credible Xhosa version of the EQ-5D was produced. Concepts which proved surprisingly difficult to transfer across the languages and cultures included 'mobility', 'confined to bed' and the choice of word to denote 'male'. The translation process prompted lengthy discussion and proved more challenging than initially anticipated. Despite the rigorous process followed, later additions had to be made to the questionnaire after field testing. It would appear that extreme caution should be exercised when using a questionnaire in a culture and language different from the one in which it was originally developed and validated. If this is not done, the validity of cross-cultural research projects may be open to question.

Introduction: Retinopathy of prematurity (ROP) is a complication of prematurity, is diagnosed by ophthalmological screening of infants at risk (birth weight < or = 1,500 g), and may lead to blindness. The incidence of ROP is under-reported in developing countries, including South Africa. Published data from the USA (CRYO-ROP) show that black infants have a lower incidence of threshold ROP than their white counterparts (3.2% v. 7.4%). Preliminary results of a screening programme initiated at Kalafong Hospital in 1999 are reported., Aim: To determine the incidence of ROP in infants with a birth weight of < or = 1,500 g born at Kalafong Hospital., Patients and Methods: Consecutive infants were enrolled at birth and screened for ROP 4-6 weeks later by indirect ophthalmoscopy. Repeat examinations were performed until vascularisation was complete or until the infant reached a postconceptional age of 40 weeks. Infants with stage 3 ROP who developed threshold disease were treated with cryotherapy or laser therapy., Results: One hundred and forty-five infants were enrolled over 10 months (15 February 1999-25 December 1999); of these 94 were screened. Of the remaining 51 infants, 24 died before screening and 27 were discharged before screening and were lost to follow-up. ROP was diagnosed in 23 of the 94 infants screened (24.5%). Stage 1 and 2 ROP occurred in 17 of the infants screened (18.1%) and stage 3 ROP in 6 (6.4%), of whom 4 (median birth weight 995 g, range 900-1,450 g) developed threshold ROP and were treated., Conclusions: The incidence of ROP in black very-low-birth-weight infants born at Kalafong Hospital is 24.5%. The incidence of threshold ROP is 4.3% (3.2% in infants < or = 1,250 g) and correlates with published data from the USA. Infants with a birth weight < or = 1,500 g should receive ophthalmological screening to diagnose stage 3 ROP timeously.

Objective: To examine the association between measures of obesity and features of the metabolic syndrome in treated black female hypertensive subjects., Design: Cross-sectional study., Setting: An urban primary health care centre in Mamelodi, Pretoria., Subjects: Women with hypertension and without known diabetes mellitus or secondary causes of hypertension. In total 124 women participated, with a mean age of 56.9 years (standard deviation (SD) 11.0) and mean body mass index (BMI) of 34.1 kg/m2 (SD 8.1)., Main Outcome Measures: Blood pressure, glucose, insulin and lipid levels., Results: Waist circumference and waist-hip ratio were more strongly associated with insulin, uric acid, glucose and triglycerides than was BMI. Statistically significant associations were found between waist circumference and low high-density lipoprotein HDL cholesterol (standardised regression coefficient -0.006, standard error of the mean (SEM) 0.002), log triglycerides (0.007, SEM 0.003), uric acid (0.002, SEM 0.001) and log insulin (0.012, SEM 0.003). BMI was only significantly associated with uric acid (0.002, SEM 0.002) and log insulin (0.009, SEM 0.004)., Conclusion: In a group of black hypertensive women measures of central obesity were more strongly associated with components of the metabolic syndrome than BMI.

Objectives: To assess, using ambulatory blood pressure monitoring (ABPM), the antihypertensive efficacy of hydrochlorothiazide 12.5 mg and indapamide 2.5 mg given as a monotherapy over 3 months to black patients with mild to moderate essential hypertension., Design: Single-centre, prospective, randomised open pilot study in three phases: (i) 1-week drug-free washout period; (ii) 2-week placebo run-in phase; and (iii) 3-month prospective open-label active treatment period., Results: Forty-two black patients with mean daytime diastolic BP (DBP) > or = 90 mmHg and < or = 115 mmHg (mean age 57 +/- 11 years, 28 women/14 men) were enrolled into the study. Overall, a profound and sustained BP reduction was achieved with indapamide at 3 months (N = 20). The 24-hour BP decreased from 150 +/- 17/94 +/- 6 mmHg to 130 +/- 19/82 +/- 9 mmHg (P < 0.0001 for systolic BP (SBP) and DBP at 3 months versus baseline); the mean daytime BP decreased from 155 +/- 15/98 +/- 6 mmHg to 134 +/- 18/87 +/- 10 mmHg (P < 0.0001 for SBP and DBP at 3 months versus baseline). The overall control (mean daytime DBP < 90 mmHg) and response (decrease in daytime DBP > or = 10 mmHg) rates achieved with indapamide were 10/20 (50%) and 13/20 (65%), respectively. In contrast, monotherapy with hydrochlorothiazide resulted in more modest BP reduction and control and response rates at 3 months (N = 22). The 24-hour BP decreased from 147 +/- 14/94 +/- 7 mmHg to 139 +/- 19/88 +/- 2 mmHg (P < 0.05 for DBP at 3 months versus baseline, P = NS for SBP); the mean daytime BP decreased from 151 +/- 14/98 +/- 5 mmHg to 144 +/- 16/93 +/- 10 mmHg (P < 0.05 for DBP at 3 months versus baseline, P = NS for SBP). The corresponding control and response rates were 7/22 (32%) and 8/22 (36%). Both hydrocholorothiazide and indapamide caused significant hypokalaemia., Conclusions: Monotherapy with indapamide is associated with greater BP reduction and control and response rates than monotherapy with low-dose hydrochlorothiazide and may be an appropriate choice of antihypertensive diuretic therapy in black South African patients with mild to moderate hypertension.