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Background. The positive deviance approach has been used to identify infant and young child feeding (IYCF) practices associated with a reduction in stunting, but this research is limited in South Africa (SA). Objective. To identify strategies among positive deviant (PD) caregivers of non-stunted children aged 6 - 18 months that influence infant and young child feeding (IYCF) practices and raise well-nourished children in two informal settlements in Harrismith. Methods. This study employed a mixed-method design using a PD approach. Demographic questionnaires were administered to 28 purposefully sampled caregiver-child pairs to determine caregiver, child and household characteristics. Socioeconomic scores were obtained from these interviews and used to select six PD and six non-positive deviant (NPD) caregivers for semi-structured qualitative interviews between March and June 2019. Results. Nutritional PD behaviours included consuming 'flesh foods' (meat) more often and practising responsive feeding and family eating. Non-nutritional PD behaviours included coping strategies involving health-seeking behaviour, financial strategy and social capital of caregivers. All caregivers displayed poor breastfeeding practices and an early introduction of solid foods. Primary healthcare nurses were reported to frequently provide breastfeeding advice from outdated prevention of mother-to-child transmission policy. Conclusions. Poor IYCF practices highlight the need for continued advocacy and promotion of IYCF in SA. Nutritional PD behaviours are key to health promotional messages relayed within the local community where the research was conducted. The presence of nutritional and non-nutritional PD behaviours highlights the need for a multi-sectoral response to addressing stunting and improving IYCF practices. [ABSTRACT FROM AUTHOR]

An invitational teaching ecosystem comprises an environment of 5 Ps: people, places, policies, programmes and processes. Invitational education is promoted amongst students and educators. This article reports on an empirical study conducted at a higher education institution that is offering programmes at multiple sites of delivery to determine the impact of mergers on an invitational ecosystem. Results indicate that access to learning resources that support teaching, as well as other social and personal factors in the learning environment, also inluence the quality of a student's learning. Enthusiasm, motivation and sensitivity of educators are noted by students as necessary to create an invitational ecosystem. Key priority areas on which higher education institutions should focus are highlighted in the indings. A qualitative approach was followed to understand and represent the opinions of the students at the different sites of delivery. This article attempts to represent the views of students on the balance between people, places, policies, programmes and processes within the educational transaction movements. (Contains 4 tables, 3 figures, and 1 note.)

Upgrading, maintenance and rehabilitation of road infrastructure is expensive, especially in view of the growing scarcity and cost of suitable road building materials. In areas with high mica content and secondary minerals such as smectite in the natural materials, stabilisation with cement is not viable. The Council for Scientific and Industrial Research of South Africa has embarked on a research programme to evaluate the performance of substandard materials improved with anionic nano-silane modified bitumen emulsions for use in base and subbase layers. This work comprises laboratory testing as well as Accelerated Pavement Testing using the Heavy Vehicle Simulator (HVS). The results of a full-scale HVS test on a light pavement as well as initial analysis on a medium traffic road are discussed. It has been shown that stabilisation of available substandard materials using an anionic nano-silane modified bitumen emulsion compared with the standard approach of importing high quality crushed aggregate can lead to savings as high as 40%–50% for equivalent performance. In addition, there was also a significant reduction in construction effort and time. [ABSTRACT FROM AUTHOR]

This essay explores aspects of the historic restoration that bequeathed South Africa and its people a prototypical, justifiable Constitution, as well as present a discussion on its four interpretive leitmotivs, assessing their applicability and utility by drawing on examples from constitutional case-law.

Background. Health sciences students have traditionally been taught their practical skills in community health facilities. However, clinics and hospitals are not necessarily ideal settings for teaching students health-promotion skills. Objective. To explore health-promoting schools (HPSs) to teach Stellenbosch University (SU) undergraduate dietetic students health-promotion skills. Methods. In this descriptive, cross-sectional study, students completed structured reflective journals and conducted interviews with teachers. The chief professional nurse interviewed the school principals. Results. The students were positive about HPSs, but only fully understood its implementation and practice after entering the school setting. They felt that they could play a role in increasing its efficacy. The teachers were positive about the initiative and thought that they had adequate knowledge to take it further, but were open to gaining more knowledge and insight. Teachers and students had similar views on the role that students could play in HPSs, including educating learners, parents and teachers on health and nutrition, assisting with growth monitoring and promotion, developing educational tools, obtaining various resources for schools, planning menus, budgeting for meals, and growing vegetables. Resources required by the schools could best be addressed by a team of healthcare professionals in collaboration with government departments and with community support. Conclusion. HPSs offer extensive opportunities where SU undergraduate dietetic students, and possibly other healthcare profession students, could serve the needs of communities while learning and practising health-promotion skills. [ABSTRACT FROM AUTHOR]

This paper aims to summarise current evidence and highlight best practices, in order to propose a paediatric food-based dietary guideline (FBDG) on exclusive breastfeeding for South Africa. A literature search was conducted to profile the current nutritional status of children and breastfeeding practices in South Africa, reflect on the commitment and capacity that has been pledged and built for exclusive and continued breastfeeding over the past five years, and highlight the action needed to improve infant and young child feeding practices in the country. From the review, it was clear that the nutritional status of children and breastfeeding practices in South Africa remain unsatisfactory. The evidence base supporting the importance of exclusive and continued breastfeeding on a global and local level has been broadened. There are comprehensive and practical international guidelines to guide the protection, promotion of, and support for breastfeeding. Comprehensive and sound national and provincial policies and guidelines have also been developed in South Africa. The political will to address infant and young child feeding has been advanced and demonstrated, and a supportive environment created through commitment and capacity building. There is a need for focused action addressing adequate monitoring and evaluation of processes during all stages of the implementation of evidence-based and theoretical planning. These actions should drastically improve exclusive and continued breastfeeding and advance the health and survival of children in South Africa. The recent momentum gained in support of improving infant and young child feeding could further be enhanced by the process of reviewing the preliminary South African paediatric FBDG and field testing the following proposed message: “Give only breast milk, and no other foods or liquids, to your baby for the first six months of life”. [ABSTRACT FROM AUTHOR]

This paper aims to propose evidence-based, paediatric food-based dietary guidelines on the complementary feeding period, from six to 24 months, of South Africa. A growing body of evidence supports the World Health Organization recommendation that, following six months of exclusive breastfeeding, appropriate and adequate complementary foods should be introduced, with continued breastfeeding for up to two years of age and beyond. A literature search was done by searching electronic databases (PubMed, the Cochrane Library and Sabinet) and hand searching key reference lists from January 2004 to April 2012, including studies published prior to 2004. Relevant international and national documents from normative bodies, global health and infant feeding authorities, professional and scientific societies and government were identified. It has been established that, in South Africa, high levels of stunting, growing concerns about overweight and obesity and the poor intake of certain micronutrients in the critical six- to 24-month period are, in part, a consequence of poor breastfeeding and complementary feeding practices, as well as the poor quality of the complementary diet. The introduction of semi-solid foods before four months of age is a common practice. The typical maize-based feeding pattern is low in food sourced from animals, vegetables and fruit and omega-3 fatty acids. Efforts by mothers to improve the quality of their children’s diets by adding energy-rich food to maize meal improves energy intake, but not micronutrient intake. Low nutrient-dense liquid, such as tea and coffee, energy-dense sugar-sweetened drinks, an excessive intake of fruit juice and high-fat and salty snacks exacerbate poor nutrient intake and displace nutrient-dense food in the diet. Healthcare workers should provide consistent, evidence-based messages and guidelines to caregivers of future generations. Interventions must be implemented and strengthened at a programme level. These could include nutrition education to improve caregiver practices, the use of high-quality, locally available foods, the use of enriched complementary foods, and exceptional support of food-insecure populations. [ABSTRACT FROM AUTHOR]

Several nutrition intervention programmes have been implemented to alleviate malnutrition among young children in South Africa. However, both nationwide studies and smaller, region-based reports show that many of these programmes have failed to improve nutritional health among the target groups. This is an overview of the most important nutrition intervention programmes implemented in post-apartheid South Africa. It is based on data sampled between 1994 and 2010, and collected from HighWire Press and MEDLINE data bases, local journals, official reports as well as experience gathered over the past two decades. Abstracts and nutrition issues related to chronic and communicable and non-communicable diseases were not included. The main aim of the implemented supplementation programmes after the Second World War was to correct states of undernutrition. However, these efforts did not benefit the disadvantaged groups, particularly the coloureds and the blacks. Following the downfall of the apartheid regime, various nutrition intervention programmes have been implemented with varying degrees of success. These include health facility-based programmes, community-based programmes as well as nutrition promotion strategies. The more holistic approach of the Integrated Nutrition Programme since 1994 is commendable, but programmes have failed to restore adequate growth rates among the impoverished children. Most likely, the failures are not as a result of inappropriate policies and strategies or lack of knowledge about relevant solutions, but rather inadequate implementation and scale of the programmes. In order to ensure a satisfactory improvement in nutritional health in South Africa, the various programmes should undergo regular evaluations to identify pitfalls and shortcomings. The fight against undernutrition and hunger, which are rooted in poverty and social inequalities, remains a major challenge for the South African health authorities. Urgent scale-up of the current nutrition intervention programmes as well as evaluation of their implementation are needed, coupled with strategies for education, skills development, job creation and poverty alleviation. [ABSTRACT FROM AUTHOR]

The article offers the author's discussion on the status and role of legislation as a constitutional democracy in South Africa. The author mentions that a court must declare the invalidity of any inconsistent law or conduct with the Constitution whenever its decides a constitutional issue within its power. The author also explores its proposition, beginning with observations on statute law. These involve legislation with judicial precedent and custom as generative sources of the country's customary law, the classification of the said sources from material sources and the indispensability of the statute law towards regulation of the state.

The Baby-Friendly Hospital Initiative (BFHI) is a global effort to improve the role of maternity services and to enable mothers to breastfeed their infants, thus ensuring the best start in life for their infants. The foundation for the BFHI is the Ten Steps to Successful Breastfeeding (BF). It has been shown, however, that the selective implementation of only some of the steps may be ineffective and discouraging to successful BF practices. An initial study was therefore conducted to assess the extent of the implementation of the Ten Steps in both public and private maternity facilities. Poor performance for some steps led to a follow-up study to investigate the knowledge and attitudes of health care workers (HCWs) and mothers alike and to evaluate the exclusive BF (EBF) practices of mothers attending private BF clinics. Both studies followed descriptive, cross-sectional designs and were set in the Cape Metropole in the Western Cape. Twenty-six maternity facilities participated in the initial study, for which observation lists were completed and verified by interviewer-administered questionnaires to both HCWs and mothers. Eighteen private BF clinics participated in the follow-up study, which included observations and interviewer-administered questionnaires to 25 HCWs and 64 mothers. During the initial study, lower mean scores were noted for Steps 1, 2, 6 and 10. The overall implementation of the Ten Steps was average. The findings highlighted the importance of the establishment and implementation of BF policies, of appropriate and continuous BF training and better referral systems to ensure initiation and establishment of early BF, EBF practices and support on an ongoing basis to ensure the best start in life for infants. [ABSTRACT FROM AUTHOR]

The first language-in-education policy of South Africa provides for additive bilingual education, a form of bilingual education that assumes a prominent role for the mother tongue throughout the learner's school career, as opposed to subtractive (bilingual) education, where mother tongue instruction is phased out. This article places the current debate on mother tongue education in South Africa within the context of bilingual education. It investigates the role of mother tongue education in different models of bilingual education. Following international trends, the article distinguishes between weak models of bilingual education (which effectively lead to unilingualism) and strong models of bilingual education (which effectively lead to bilingualism and biliteracy). It also discusses two sets of principles that may contribute to strong bilingual education and investigates the presence of these within the South African education system. The article demonstrates that mother tongue instruction is an essential component in ensuring successful bilingual education in South Africa, and concludes with the recommendation that the need to redirect the current debate on language in schools should be recognised. [ABSTRACT FROM AUTHOR]

The authors reflect on the role of access to nutrient and food intake data on the struggle against malnutrition in South Africa. They argue that nutrition interventions depend on food intake data, which has limitations including the daily variation of food intake, incorrect reporting, and coding errors. They mention that supplementation provides short-term measure but does not address the cause of malnutrition. The creation of a working committee for data accessibility is also suggested.

Purpose: Response assessment of classical Hodgkin lymphoma (cHL) with positron emission tomography-computerized tomography (PET-CT) is standard of care in well-resourced settings but unavailable in most African countries. We aimed to investigate correlations between changes in PET-CT findings at interim analysis with changes in blood test results in pediatric patients with cHL in 17 South African centers., Methods: Changes in ferritin, lactate dehydrogenase (LDH), erythrocyte sedimentation rate (ESR), albumin, total white cell count (TWC), absolute lymphocyte count (ALC), and absolute eosinophil count were compared with PET-CT Deauville scores (DS) after two cycles of doxorubicin, bleomycin, vinblastine, and dacarbazine in 84 pediatric patients with cHL. DS 1-3 denoted rapid early response (RER) while DS 4-5 denoted slow early response (SER). Missing values were imputed using the k-nearest neighbor algorithm. Baseline and follow-up blood test values were combined into a single difference variable. Data were split into training and testing sets for analysis using Python scikit-learn 1.2.2 with logistic regression, random forests, naïve Bayes, and support vector machine classifiers., Results: Random forest analysis achieved the best validated test accuracy of 73% when predicting RER or SER from blood samples. When applied to the full data set, the optimal model had a predictive accuracy of 80% and a receiver operating characteristic AUC of 89%. The most predictive variable was the differences in ALC, contributing 21% to the model. Differences in ferritin, LDH, and TWC contributed 15%-16%. Differences in ESR, hemoglobin, and albumin contributed 11%-12%., Conclusion: Changes in low-cost, widely available blood tests may predict chemosensitivity for pediatric cHL without access to PET-CT, identifying patients who may not require radiotherapy. Changes in these nonspecific blood tests should be assessed in combination with clinical findings and available imaging to avoid undertreatment.

Background: Historic South African 5-year overall survival (OS) rates for Hodgkin lymphoma (HL) from 2000 to 2010 were 46% and 84% for human immunodeficiency virus (HIV)-positive and HIV-negative children, respectively. We investigated whether a harmonised treatment protocol using risk stratification and response-adapted therapy could increase the OS of childhood and adolescent HL., Methods: Seventeen units prospectively enrolled patients less than 18 years, newly diagnosed with classical HL onto a risk-stratified, response-adapted treatment protocol from July 2016 to December 2022. Low- and intermediate-risk patients received four and six courses of adriamycin, bleomycin, vinblastine, and dacarbazine (ABVD), respectively. High-risk patients received two courses of ABVD, followed by four courses of cyclophosphamide, vincristine, prednisone, and dacarbazine (COPDac). Those with a slow early response and bulky disease received consolidation radiotherapy. HIV-positive patients could receive granulocyte colony-stimulating factor and less intensive therapy if stratified as high risk, at the treating clinician's discretion. Kaplan-Meier survival analysis was performed to determine 2-year OS and Cox regression to elucidate prognostic factors., Results: The cohort comprised 132 patients (19 HIV-positive, 113 HIV-negative), median age of 9.7 years, with a median follow-up of 2.2 years. Risk grouping comprised nine (7%) low risk, 36 (27%) intermediate risk and 87 (66%) high risk, with 71 (54%) rapid early responders and 45 (34%) slow early responders, and 16 (12%) undocumented. Two-year OS was 100% for low-risk, 93% for intermediate-risk, and 91% for high-risk patients. OS for HIV-negative (93%) and HIV-positive (89%) patients were similar (p = .53). Absolute lymphocyte count greater than 0.6 × 10 9 predicted survival (94% vs. 83%, p = .02)., Conclusion: In the first South African harmonised HL treatment protocol, risk stratification correlated with prognosis. Two-year OS of HIV-positive and HIV-negative patients improved since 2010, partially ascribed to standardised treatment and increased supportive care. This improved survival strengthens the harmonisation movement and gives hope that South Africa will achieve the WHO Global Initiative for Childhood Cancer goals., (© 2023 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals LLC.)

Introduction: Collaborative studies have contributed to improved survival of pediatric Hodgkin lymphoma in well-resourced settings, but few are documented in resource-constrained countries. The South Africa Children's Cancer Study Group initiated harmonization of management protocols in 2015. This article analyzes barriers and enablers of the process. Methods: Clinician-researchers at 11 state-funded pediatric oncology units completed preparatory questionnaires in June 2018. Parameters included infrastructure, access to therapeutic modalities and clinician numbers. A reassessment of 13 sites (two new pediatric oncology unit) in February 2021 ascertained changes in resources and identified challenges to full participation. Questions investigated the presence and quality of diagnostic radiology, availability of surgeons, cytology/pathology options and hematology laboratory facilities. Results: The response rate was 11/11 to survey 1 and 13/13 to survey 2. The anticipated pre-study barriers to participation of pediatric oncology units included time constraints and understaffing. PET-CT was unavailable to two centers. The majority of pediatric oncology units met the minimum criteria to participate. The interim survey confirmed chemotherapy and radiotherapy availability nearly 100% of the time. One site reported improved access to radiotherapy while another reported improved access to PET-CT. Barriers to participation included excessive times to obtain regulatory approvals, time constraints and lack of dedicated research staff. Enablers include the simple management algorithm and communication tools. Conclusion: This study demonstrates that multicenter collaboration and harmonization of management protocols are achievable in a middle-income setting. Minimal funding is required but full participation to run high-quality studies requires more financial investment. Focused funding and increased prioritization of research may address systemic barriers to full participation.

The SARS-CoV-2 epidemic in southern Africa has been characterized by three distinct waves. The first was associated with a mix of SARS-CoV-2 lineages, while the second and third waves were driven by the Beta (B.1.351) and Delta (B.1.617.2) variants, respectively 1-3 . In November 2021, genomic surveillance teams in South Africa and Botswana detected a new SARS-CoV-2 variant associated with a rapid resurgence of infections in Gauteng province, South Africa. Within three days of the first genome being uploaded, it was designated a variant of concern (Omicron, B.1.1.529) by the World Health Organization and, within three weeks, had been identified in 87 countries. The Omicron variant is exceptional for carrying over 30 mutations in the spike glycoprotein, which are predicted to influence antibody neutralization and spike function 4 . Here we describe the genomic profile and early transmission dynamics of Omicron, highlighting the rapid spread in regions with high levels of population immunity., (© 2022. The Author(s).)

Objective: This study aimed to determine the knowledge, perceptions and practices of dietitians in South Africa regarding the Regulations Relating to Foodstuffs for Infants and Young Children (R991)., Design: A mixed methods, cross-sectional design was used., Setting: Quantitative data were collected using an online survey (n 282) and qualitative data by means of two focus group discussions (n 12)., Participants: Participants were dietitians registered with the Health Professions Council of South Africa., Results: Dietitians' average knowledge score was 64·8 % ± 12·5. Those working in infant and young child feeding had a 5 % higher knowledge score (95 % CI 1·4, 8·6, P = 0·01). Perceptions towards the Regulations were generally positive, and the majority of practices were compliant. Positive perceptions seemed to correlate with compliant practices. The most frequently selected enabler to the implementation of the Regulations was 'Increase in other initiatives which support, protect and promote breastfeeding', and the most frequently selected barrier was 'Lack of awareness of the Regulation among health care providers'. The major themes from the focus group discussions comprised: less knowledge among dietitians and mothers about products controlled under the Regulations, non-compliance of other health care providers, the dietitians' role in support and enforcement, the discrepancy between practice in private and public sectors and a lack of enforcement., Conclusions: South Africa has taken a bold step in legislating the International Code of Marketing of Breast-milk Substitutes and should upscale programmes to ensure consistent monitoring and enforcing of the Regulations.

Adenoviral infections may cause mild to severe morbidity or fatality in a large array of animal species. In crocodilians, hatchlings under 5 months of age are usually affected. However, there is a paucity of information on actual incidences in hatchlings originating from South Africa. Two cases of adenoviral hepatitis in crocodile hatchlings about 2 weeks old, bred on a commercial farm in South Africa, are described. Both hatchlings showed typical clinical signs of hepatitis. The identification of intranuclear inclusion bodies in the liver was used to differentiate between adenoviral hepatitis and chlamydial hepatitis. Although vertical transmission has never been proven in crocodiles, the young age of the affected hatchlings raises the possibility of vertical transmission. The lack of epidemiological information on adenoviral hepatitis in crocodiles highlights the need for further characterisation of the virus and targeted surveillance.

Setting: The Khayelitsha subdistrict has the highest burden of reported tuberculosis (TB) cases in Cape Town, Western Cape Province, South Africa., Objectives: To characterise the TB burden, spectrum and treatment outcomes among children managed at a district-level hospital, the Khayelitsha District Hospital., Design: Retrospective medical record review of all children (age <13 years) diagnosed with TB in January-July 2014. A lay health care worker completed daily surveillance and supported linkage to TB care. Symptoms and investigations at presentation, TB disease spectrum, referral pathways and outcomes were reported., Results: Most children were aged 2 years (84/99, 85%), 18/96 (19%) were infected with the human immunodeficiency virus, 31/91 (34%) were malnourished and 80/99 (81%) had pulmonary TB only. The majority of the children (63/80, 79%) presented with cough of acute onset (<2 weeks). Only 5/36 (14%) eligible child contacts had documentation of receiving isoniazid preventive therapy. Twelve (13%) children had bacteriologically confirmed pulmonary TB. Overall, 93/97 (96%) children successfully continued TB care after hospital discharge. Favourable TB treatment outcomes were recorded in only 77 (78%) children., Conclusions: Children with TB managed at this district-level hospital were young, and frequently had acute symptoms and substantial comorbidities. Missed opportunities for TB prevention were identified. Linkage to care support resulted in excellent continuation of TB care; however, treatment outcomes could be further improved.

Background: African American ethnicity is independently associated with lupus myocarditis compared with other ethnic groups. In the mixed racial population of the Western Cape, South Africa, no data exists on the clinical features/outcome of lupus myocarditis., Objectives: The objective of this study was to give a comprehensive description of the clinical features and outcome of acute lupus myocarditis in a mixed racial population., Methods: Clinical records (between 2008 and 2014) of adult systemic lupus erythematosus (SLE) patients at a tertiary referral centre were retrospectively screened for a clinical and echocardiographic diagnosis of lupus myocarditis. Clinical features, laboratory results, management and outcome were described. Echocardiographic images stored in a digital archive were reanalysed including global and regional left ventricular function. A poor outcome was defined as lupus myocarditis related mortality or final left ventricular ejection fraction (LVEF) <40%., Results: Twenty-eight of 457 lupus patients (6.1%) met inclusion criteria: 92.9% were female and 89.3% were of mixed racial origin. Fifty-three per cent of patients presented within three months after being diagnosed with SLE. Seventy-five per cent had severely active disease (SLE disease activity index ≥ 12) and 67.9% of patients had concomitant lupus nephritis. Laboratory results included: lymphopenia (69%) and an increased aRNP (61.5%). Treatment included corticosteroids (96%) and cyclophosphamide (75%); 14% of patients required additional immunosuppression including rituximab. Diastolic dysfunction and regional wall motion abnormalities occurred in > 90% of patients. LVEF improved from 35% to 47% (p = 0.023) and wall motion score from 1.88 to 1.5 (p = 0.017) following treatment. Overall mortality was high (12/28): five patients (17.9%) died due to lupus myocarditis (bimodal pattern). Patients who died of lupus myocarditis had a longer duration of SLE (p = 0.045) and a lower absolute lymphocyte count (p = 0.041) at diagnosis. LVEF at diagnosis was lower in patients who died of lupus myocarditis (p = 0.099) and in those with a persistent LVEF < 40% (n = 5; p = 0.046)., Conclusions: This is the largest reported series on lupus myocarditis. The mixed racial population had a similar prevalence, but higher mortality compared with other ethnic groups (internationally published literature). Patients typically presented with high SLE disease activity and the majority had concomitant lupus nephritis. Lymphopenia and low LVEF at presentation were of prognostic significance, associated with lupus myocarditis related mortality or a persistent LVEF < 40%., (© The Author(s) 2016.)

Patients with rheumatoid arthritis (RA) tend to have a poor nutritional status. This study aimed to gather information on body composition in patients with RA in private and public health settings in the City of Cape Town, South Africa (SA). This cross-sectional study evaluated adults with RA. Information on demographics, comorbidities and medication was gathered. Anthropometrical measurements included weight, height, waist circumference and skinfolds and were used to calculate, interpret and classify body mass index (BMI), percentage body fat, waist circumference, fat mass index (FMI) and fat-free mass index (FFMI). Ethics approval for the execution of the study was obtained from the Health Research Ethics Committee of Stellenbosch University. The study included 251 participants [mean age, 54.7 years; ±standard deviation (SD) 13.6]. The mean BMI was 30.3 kg/m(2) (±SD 6.7) and 26.6 kg/m(2) (±SD 6.1) for women and men, respectively. BMI was used to classify obesity (45.9 %), overweight (26.8 %), normal weight (25.6 %) and underweight (1.6 %). Waist circumference classifications showed a substantially increased risk for metabolic complications in 127 participants (51.8 %) and an increased risk in 52 participants (21.2 %). Low fat-free mass (FFMI of <10th percentile) was seen in 24 participants (21 %), and obesity (FMI of >90th percentile) was seen in 31 (27 %). Rheumatoid cachexia was identified in 12 participants (10.3 %). Results indicate suboptimal nutritional status in patients with RA in the current setting. It highlights the importance of involving dietitians in the management of RA, with a view to reduce symptoms, improve quality of life, prevent cardiovascular disease and decrease overall medical costs.

Background: The important role of thrombocytes in hemostasis is well documented, but little information is available on the thrombocyte morphology of avian species, including vultures., Objective: The objective of this study was to describe and compare the morphology and morphometric parameters of thrombocytes in 2 vulture species., Methods: Blood samples were collected into tubes containing acid-citrate-dextrose from 5 Cape vultures (Gyps coprotheres) and 6 white-backed vultures (Gyps africanus) at the De Wildt Breeding Center, Northwest Province, South Africa. Wright's-stained blood smears were examined by light microscopy. Samples were processed and examined by scanning and transmission electron microscopy (TEM) using standard techniques. Morphometric parameters (perimeter, area, minimum and maximum diameter, and aspect ratio) were measured on 140 thrombocytes using imaging software., Results: Thrombocytes were predominantly oval to elliptical, with few pseudopodia. The nucleus was the most prominent feature of the cells. Large vacuoles were visible in the cytoplasm by both light and TEM. Ultrastructurally, microtubules and dense bodies were seen in most cells. Other cytoplasmic organelles seen by electron microscopy included mitochondria, endoplasmic reticulum, a surface connecting canalicular system, Golgi complex, lipid droplets, and glycogen. Thrombocytes of Cape vultures had a significantly (P=.005) higher aspect ratio compared with white-backed vultures. Thrombocyte estimates in blood smears were similar in both species, with a combined mean of 31.6 x 10(9)/L., Conclusion: The morphologic features of thrombocytes in southern African vultures are similar in most ways to those of other avian species. Although thrombocytes in white-backed vultures were slightly more spherical than those of Cape vultures, no other significant differences were found between the 2 species.

Petrol attendants are exposed to petrol volatile organic compounds (VOCs) which may have genotoxic and carcinogenic effects. The single-cell gel electrophoresis assay (comet assay) is a method highly sensitive to DNA damage induced by environmental and occupational exposure to carcinogenic and mutagenic agents. The aim of this study was to evaluate the level of exposure of petrol attendants to petrol VOCs and also to determine their effect on DNA damage and repair in lymphocytes of African petrol attendants. The exposed group consisted of 20 subjects, randomly selected from three petrol stations. A control group of 20 unexposed subjects was also chosen and matched for age and smoking habits with the exposed group. Sorbent tubes were used to assess personal exposure of petrol attendants. The comet assay was used to investigate the basal DNA damage and repair capacity in isolated lymphocytes of petrol attendants and unexposed subjects. Blood samples were taken from the petrol attendants at the end of their 8-h working shift and also from the unexposed subjects. The petrol attendants were found to be exposed to levels of petrol VOCs lower than the South African occupational exposure limit for constituent chemicals. A significant relationship was found between the volume of petrol sold during the shift and the average concentrations of benzene, toluene and the total VOCs measured. However, relative humidity had a negative correlation with the average concentrations of benzene, toluene, xylene and the total VOCs. Significantly higher basal DNA damage was observed with the exposed group compared to the unexposed group. The period of exposure influenced the level of DNA damage and the calculated repair capacity. Smoking and age had a significant influence on the level of DNA damage. DNA repair capacity was delayed in smokers of both exposed and unexposed group.

Dichapetalum cymosum (Hook.) Engl. (Poison leaf; gifblaar) is a major cause of acute livestock plant poisoning in southern Africa. Microscopic identification of leaf fragments found in the digestive tract of poisoned animals can assist in the diagnosis of poisoning when D. cymosum poisoning is suspected. The microscopic morphology of D. cymosum leaves are described using standard staining and microscopy methods for histopathology samples at many regional diagnostic laboratories. Morphological descriptions included structures in the epidermis and mesophyll that were discernible using H & E staining. The microscopic morphology of D. cymosum was used to differentiate between leaf fragments of D. cymosum and other species from the same habitat with macroscopic features that resemble those of D. cymosum, including Euclea crispa, Combretum zeyheri, Burkea afrikana and Lannea discolor.

A patient, who presented with abdominal pain and severe photosensitivity that resulted in scarring and mutilation of the fingers, nose and ears, was referred for biochemical assessment of porphyria and DNA screening. Although these clinical manifestations were suggestive of both acute porphyria and congenital erythropoietic porphyria, the biochemical profile was consistent with variegate porphyria (VP). Analysis of the protoporphyrinogen oxidase (PPOX) gene underlying VP resulted in the identification of the founder mutation R59W in a heterozygous state in this patient. Despite extensive mutation analysis, no other potential disease-causing genetic alterations could be detected in the PPOX gene or the uroporphyrinogen III synthase gene. Slight overrepresentation of the mutant PPOX allele was however, observed repeatedly in DNA of the proband compared to other R59W heterozygotes, including his mother who also tested positive for mutation R59W using restriction enzyme analysis and direct DNA sequencing. Confirmation of this phenomenon by real-time polymerase chain reaction analysis and microsatellite analysis, using highly informative markers flanking the PPOX gene, raised the possibility of partial homozygosity for VP in this patient. This study represents the first report of overrepresentation of mutation R59W in a patient with a severe form of VP. A homozygote for the R59W mutation has never been detected, and the severe clinical manifestation observed in our patient is consistent with the hypothesis that such a genotype will not be compatible with life.

Hirschsprung's disease (HSCR) is a common cause of intestinal obstruction in neonates with an incidence of one in 5000 live births. The disease occurs due to the absence of parasympathetic neuronal ganglia in the hindgut, resulting in irregular or sustained contraction of the affected segment. DNA samples of 40 unrelated subjects with HSCR were subjected to mutation screening of the RET (REarranged during Transfection) proto-oncogene, the major susceptibility gene for HSCR. Five novel (V202M, E480K, IVS10-2A/G, D771N, IVS19-9C/T) and one previously described mutation (P973L) were identified. Only two of the mutation-positive patients (from different ethnic groups) displayed total colonic aganglionosis, and both were heterozygous for mutation D771N. The potential disease-causing mutations occurred in 20% of individuals, with more males (22.5% representing seven of 31 males) affected than females (12.5% representing one of eight females). This study represents the first comprehensive genetic analysis of this disease in the diverse South African population.

Multiple sclerosis (MS) is believed to be an autoimmune process occurring in genetically susceptible individuals after an appropriate environmental exposure. We have exploited the homogeneous Afrikaner population of European ancestry to investigate the likelihood that iron dysregulation, in association with infectious and/or autoimmune disease susceptibility, may underlie the MS phenotype in a subgroup of patients. The functional Z-DNA forming repeat polymorphism of the natural resistance-associated macrophage protein-1 (NRAMP1) gene was analyzed in 104 patients diagnosed with MS and 522 Caucasian controls. A family-based control group consisting of 32 parental alleles not transmitted to MS offspring was additionally studied to exclude the likelihood of population substructures. Statistically significant differences in allelic distribution were observed between the patient and control samples drawn from the same population (P < 0.01). Evidence is furthermore provided that alleles considered to be detrimental in relation to autoimmune disease susceptibility may be maintained in the population as a consequence of improved survival to reproductive age following infectious disease challenge. Although it remains to be determined whether the disease phenotype in MS patients with allele 5 of the NRAMP1 promoter polymorphism is directly related to dysregulation of iron or modified susceptibility to viral infection and/or autoimmunity, a combination of these processes most likely underlies the disease phenotype in these patients. In view of the emerging role of polymorphic variants in complex diseases and minimizing of possible confounding factors in this association study, we conclude that allelic variation in the NRAMP1 promoter may contribute significantly to MS susceptibility in the South African Caucasian population., (Copyright 2001 Academic Press.)

We retrospectively analysed the epidemiological features and the importance of biochemical, histological and genetic parameters in predicting survival in 14 Namibian and 34 South African children treated for neuroblastoma (NB) from 1983 to 1997. Curative treatment consisted mainly of total (13%) or partial (44%) resection after chemotherapy (cyclophosphamide and doxorubicin x6 courses or carboplatin, etoposide, epirubicin and cyclophosphamide x6 courses). Localized radiotherapy with curative intent was given to 33% of patients. The male:female ratio was 0.9. The median age was 18 months (range 1-116) and was comparable in white, black and mixed ethnic patients. Primary disease was located in the abdomen (75%), thorax (15%), pelvis (5%) or elsewhere (5%). Evans stage distribution was: stage I, 2%; stage II, 19%; stage III, 21%; stage IV, 50%; and stage IVS, 8%. Stage III/IV disease was more common in black than in white children (p = 0.0001). Urinary vanillyl mandelic acid was elevated in 63% of those tested. Survival after 5-163 months' follow-up was 90% for stages I and II combined (median 2983, range 798-4661 days), 51% for stage III (median 367, range 61-5001 days), 6% for stage IV (median 227, range 20-4379 days) and 50% for stage IVS (median 532, range 54-1543 days). All seven children with para-spinal tumours survived. Individual factors associated with significantly poorer survival were elevated serum lactate dehydrogenase (p < 0.001), Joshi histological risk categorization adapted for age (p = 0.039), n-myc amplification (p = 0.006) and diploidy or tetraploidy (p = 0.006). All seven children with serum ferritin exceeding 149 ng/ml at the time of diagnosis died and survival was 33% in children with 1p deletion and 67% in those without, but the numbers were too small to achieve significance. These findings confirm the benefit of simple biochemical tests and histology in identifying those who are likely to respond favourably to conventional chemotherapy and surgery. Supportive genetic tests on formalin-fixed paraffin-embedded tumour tissue contributed to predicting outcome in 21 patients.

Esophageal cancer (EC) is the leading cause of cancer death in the Black male population in South Africa. Although several oncogenes and tumor suppressor genes have previously been found altered in this cancer, many novel genes remain to be identified. To identify the chromosomal location of these unknown genes, we have analyzed DNA of 29 South African EC patients by comparative genomic hybridization. Frequent loss occurred at chromosome 1p (52%), 4p (52%), 18q (48%), 19p (52%), 19q (55%), and 22q (41%). The most common gains were detected at 1q (41%), 2q (52%), 3q (72%), 5p (31%), 7p (48%), 7q (45%), 8q (55%), and Xq (69%). High level amplification was detected at 2q24-33, 6p21.1-q14, 7p12-q21, 7q11.2-31, 8q22-24, 8q13-qter, 13q21-34, and at 13q32-34. The present comparative genomic hybridization study opens the way for additional targeted studies on these particular chromosomal regions to identify the specific genes involved in the higher susceptibility to specific subtypes of esophageal carcinoma in different geographical regions. The loss of 8p (28%) and Xp (17%) in tumors of male individuals may provide clues to the basis of the sex-biased frequency of occurrence of EC favoring men.

Three founder-related low-density lipoprotein receptor (LDLR) gene mutations, D154N, D206E and V408M, cause familial hypercholesterolemia (FH) in approximately 90% of South African Afrikaners. Two hundred and twenty-one South African children, from 85 affected families, were screened for the specific mutation identified previously in the index case. Sixty boys and 56 girls were heterozygous for mutation D154N (FH3), D206E (FH1) or V408M (FH2). Total and LDL cholesterol (LDLC) levels were similar among the children heterozygous for the three founder mutations, and mean values were significantly higher compared to those without a known mutation (p < 0.0001). Plasma cholesterol levels overlapped considerably between the different groups, suggesting that modifiable lifestyle factors remain important in children with FH. This study demonstrates the potential diagnostic value of mutation screening in a pediatric population with an enrichment of particular gene mutations.

Three different point mutations were recently identified in South African familial hypercholesterolaemics. These mutations result in the modification of recognition sites of specific restriction endonucleases. This study describes rapid methods for presymptomatic detection of these defects based on restriction enzyme analysis or allele-specific hybridization of enzymatically amplified genomic DNA. These methods were used to determine the frequencies of the three known low-density lipoprotein (LDL) receptor gene mutations in 138 chromosomes of Afrikaner FH patients. It has been shown that a common mutation at the 3' end of exon 4 (base 681) of the LDL receptor gene is present in about 70% of alleles, while the mutations in exons 9 (base 1285) and 4 (base 523) of the gene are present in about 20 and 10% respectively of the genes studied. These mutations were found in approximately 95% of Afrikaner familial hypercholesterolaemic patients studied, indicating at least three founder members for the disease in this population of South Africa.

The prevalence of familial hypercholesterolaemia (FH) is significantly higher in the Afrikaans speaking population (Afrikaners) of South Africa than reported in most other populations. A founder gene effect has been proposed to explain the high FH frequency, implying that the same low density lipoprotein (LDL) receptor gene defect is present in the majority of affected Afrikaners. By using DNA amplification and sequence determination, we have detected a point mutation in DNA from two Afrikaner FH homozygotes. A cytosine to guanine base substitution at nucleotide position 681 of the LDL receptor cDNA results in an amino acid change from aspartic acid to glutamic acid at residue 206 in the cysteine rich ligand binding domain of the LDL receptor. Since three previously mapped transport deficient alleles of the LDL receptor were also traced to cysteine rich repeats of the protein, these results suggest that the mutation is responsible for the receptor defective mutation predominantly found in Afrikaner FH homozygotes. The mutation gives rise to an additional DdeI restriction site in DNA of affected subjects and segregation of the mutation with the disease was confirmed in five large Afrikaner FH families. We predict that 65% of affected South African Afrikaners carry this particular base substitution. Amplification of genomic DNA, using the polymerase chain reaction method, and restriction enzyme analysis now permit accurate diagnosis of the mutation in subjects with FH.