BACKGROUND. Among paediatric tumours, two groups stand out: neonatal and infantile tumours, which respectively represent 2% and 10% of paediatric tumours. The distribution of tumours in these age groups is different from that in older children. OBJECTIVES. Descriptive analysis of a cohort of patients treated for a solid malignancy at Red Cross War Memorial Children's Hospital (RCWMCH), Cape Town, South Africa. METHODS. A 20-year retrospective case series review of patients aged <1 year at diagnosis was performed on data extracted from the RCWMCH oncology database. RESULTS. Of 243 cases extracted from the database, 198 were solid tumours, of which 122 (61.1%) were included in the analysis; the 76 excluded were benign or of eye, bone or central nervous system origin and therefore did not meet the inclusion criteria. There were 38 renal malignancies (31.2%), 30 neuroblastomas (24.6%), 25 soft-tissue sarcomas (20.5%), 17 germ cell tumours/gonadal tumours (13.9%) and 12 liver tumours (9.8%). Of the patients, 119 (97.5%) had surgery, 91 (74.6%) had chemotherapy and 10 (8.2%) had radiotherapy. Tumour group 5-year survival was 78.5% for neuroblastic tumours, 79.0% for nephroblastomas, 81.5% for hepatoblastomas, 62.5% and 54.2% for rhabdomyosarcoma and non-rhabdomyosarcoma soft-tissue sarcomas, respectively, and 79.5% for malignant extracranial and extragonadal germ cell tumours. For the entire cohort, the mean follow-up was 46 months, with an estimated 5-year overall survival of 74.6%. Mortality was 21.5% and loss to follow-up 6.6%. CONCLUSION. The distribution of tumours differs slightly from the literature, with a predominance of renal tumours over neuroblastomas. The overall mortality rate of 21.5%, the surgical complication rate of 10.9% and the 5-year overall survival of 74.6% correspond with the literature, supporting the view that a paediatric hospital in a middle-income country can achieve results similar to those in higher-income countries when international protocols are applied by a dedicated multidisciplinary team.

BACKGROUND. The primary immunodeficiency diseases (PIDs) constitute a diverse and ever-expanding group of inborn errors affecting a wide range of immune functions. They are not well documented in sub-Saharan Africa.OBJECTIVES. To describe the spectrum of PIDs at a tertiary paediatric hospital.METHODS. A retrospective descriptive study of PIDs diagnosed at Red Cross War Memorial Children's Hospital, Cape Town, South Africa (SA), between 1975 and 2017 was undertaken.RESULTS. We identified 252 children with PIDs, spanning eight of the nine categories listed in the 2017 classification of the International Union of Immunological Societies. Predominantly antibody deficiencies, combined immunodeficiencies with associated syndromic features, and immunodeficiencies affecting cellular and humoral immunity accounted for most children with PIDs (n= 199, 79.0%). The mean age (standard deviation) at diagnosis was 46 (50) months, and the male/female ratio was 1.5:1. There was a history of parental consanguinity in 3 cases (1.2%). Recurrent infection was the most prevalent presenting phenotype, manifesting in 177 patients (70.2%). Genetic or chromosomal confirmation was obtained in 42/252 cases (16.7%). Common interventions used to prevent infection were antimicrobial prophylaxis and immunoglobulin replacement therapy, administered to 95 (37.7%) and 93 (36.9%) of the patients, respectively. Six of 7 children who underwent haematopoietic stem cell transplantation (HSCT) had successful outcomes. The 7th patient died 2 months after HSCT from overwhelming infection. Although we could not account for the children lost to follow-up during the study period, 53 deaths were confirmed (21.0%).CONCLUSIONS. Several challenges exist in the recognition and treatment of children with PIDs in our setting. These include limited access to genetic diagnostics and HSCT. Suboptimal treatment options contribute to the overall mortality of PIDs in SA.

BACKGROUND. Allogeneic haemopoietic stem cell transplant (Allo-HSCT) is a specialised and costly intervention, associated with significant morbidity and mortality. It is used to treat a broad range of paediatric conditions. South Africa (SA) is an upper middle-income country with limitations on healthcare spending. The role of paediatric Allo-HSCT in this setting is reviewed. OBJECTIVES. To review paediatric patients who underwent Allo-HSCT at the Groote Schuur Hospital/University of Cape Town Private Academic Hospital transplant unit in Cape Town, South Africa, and received post-transplant care at Red Cross War Memorial Children's Hospital, over the period January 2006 - December 2014 in respect of indications for the transplant, donor sources, conditioning regimens, treatment-related morbidity and overall survival (OS). METHODS. A retrospective analysis of patient records was performed and a database was created in Microsoft Access. Descriptive analyses of relevant demographic, clinical and laboratory data were performed. Summary statistics of demographic and clinical parameters were derived with Excel. OS was calculated from the date of transplant to the date of an event (death) or last follow-up using the Kaplan-Meier method in Statistica. RESULTS. A total of 48 children received Allo-HSCT: 24 for haematological malignancies, 20 for non-oncological haematological conditions, 3 for immune disorders and 1 for adrenoleukodystrophy. There were 28 boys (median age 7.5 years) and 20 girls (8.5 years). There were 31 sibling matched peripheral-blood stem cell (PBSC) transplants and 1 maternal haploidentical PBSC transplant. Stem cells were mobilised from bone marrow into peripheral blood by administering granulocyte-colony stimulating factor to donors. PBSCs were harvested by apheresis. Eight patients received 10/10 HLA-matched grafts from unrelated donors. Six were PBSC grafts and 2 were bone marrow grafts. Three of the unrelated PBSC grafts were from SA donors. Eight transplants used umbilical cord blood from international registries. OS for patients with non-oncological disorders was 91.3% (median follow-up 3.9 years), while that for oncology patients was 56.8% (1.9 years). Two of the survivors developed chronic graft-versus-host disease. CONCLUSIONS. OS for non-oncological conditions was excellent, while outcomes for oncological disorders were on par with those in high-income settings. Transplantation offers many patients the opportunity for long-term survival and has been shown to be both feasible and rewarding in a less well-resourced environment servicing an economically diverse population.

BACKGROUND. During 2013, the haematology/oncology unit at a tertiary level paediatric hospital in South Africa experienced the emergence of infection with vancomycin-resistant Enterococcus (VRE). OBJECTIVE. To describe the clinical and molecular aspects of the cases identified. METHODS. VRE isolates identified from blood culture specimens processed at the National Health Laboratory Service were screened for the presence of the vancomycin resistance genes vanA, B and C1, 2 and 3. Further characterisation of these isolates was carried out using pulsed-field gel electrophoresis (PFGE) and multilocus sequence typing (MLST). Clinical records of infected patients were reviewed to identify possible risk factors, while surveillance with rectal swabs was performed to identify VRE-colonised patients. RESULTS. Four patients with haematological malignancies were identified with VRE bloodstream infections. Patients were immuno-compromised at the time of the bloodstream infection (BSI), with receipt of vancomycin prior to VRE-BSI, and infections were treated with linezolid. Colonisation with VRE was found in 8 of 55 patients screened. Infected and colonised patients were isolated in the unit during their admission and strict contact precaution infection control practices were instituted. The vanA gene was identified in all of the isolates but one. PFGE and MLST results showed a degree of genetic relatedness between certain isolates obtained from rectal swab and blood culture samples, suggesting possible patient-to-patient transmission or persistence of the isolates in the unit. CONCLUSION. Strict infection control practices are necessary to prevent infection and transmission of resistant organisms among vulnerable patients.

BACKGROUND: Childhood cancer is an emerging problem in Africa. Its extent is hazy because data are scarce, but it should be addressed. This is the first report from the South African Children's Tumour Registry (SACTR), which covers the whole of South Africa (SA). It provides minimal estimates of cancer incidence and discusses the challenges of cancer surveillance and control in a child population in a middle-income country. Only about 2% of the African population is covered by cancer registries producing comparable incidence data. OBJECTIVE: To present and interpret incidence patterns and trends of childhood cancer over a 21-year period. The results should raise awareness of the problem of childhood cancer in an African population and provide sensible data for taking this problem in hand. METHODS: All eligible and validated cancer cases registered in the SACTR over the period 1987 - 2007 and classified according to the International Classification of Childhood Cancer were included. Population data were retrieved from official sources and estimated for the population subcategories. Incidence rates were standardised to the world standard and time trends were evaluated using joinpoint models, adjusting for sex and age. RESULTS: Based on the 11 699 cases, the overall age-standardised average annual incidence rate was 45 per million. Threefold differences in the overall incidence rates were observed between the ethnic groups, ranging from 116 for whites to 37 for black Africans, and they differed by diagnostic group. Differences between the nine provinces of SA relate to the ethnic composition and prevailing socioeconomic status. The overall incidence rate declined by 1.2% per year for the whole country (p<0.01). However, the decline was mainly observed during the first few years of the study period, after which rates stabilised or increased. CONCLUSIONS: Diagnosis and notification of childhood cancer should improve. The differences in incidence between ethnic groups suggest the priorities for cancer control.

The spectrum of sickle cell disease (SCD) encompasses a heterogeneous group of disorders that include: (i) homozygous SCD (HbSS), also referred to as sickle cell anaemia; (ii) heterozygous SCD (HbAS), also referred to as sickle cell trait; and (iii) compound heterozygous states such as HbSC disease, HbSβ thalassaemia, etc. Homozygous or compound heterozygous SCD patients manifest with clinical disease of varying severity that is influenced by biological and environmental factors, whereas subjects with sickle cell trait are largely asymptomatic. SCD is characterised by vaso-occlusive episodes that result in tissue ischaemia and pain in the affected region. Repeated infarctive episodes cause organ damage and may eventually lead to organ failure. For effective management, regular follow-up with support from a multidisciplinary healthcare team is necessary. The chronic nature of the disease, the steady increase in patient numbers, and relapsing acute episodes have cost implications that are likely to impact on provincial and national health budgets. Limited resources mandate local management protocols for the purposes of consistency and standardisation, which could also facilitate sharing of resources between centres for maximal utility. These recommendations have been developed for the South African setting, and it is intended to update them regularly to meet new demands and challenges.

Pompe disease (PD) is an autosomal-recessively inherited neuromuscular disease that, if not diagnosed and treated early, can be fatal. It can present from early infancy into adulthood. Due to the lack of acid a-glucosidase, there is progressive intracellular accumulation of glycogen. The severity of the disease is determined by age of onset, organ involvement including the degree of severity of muscle involvement, as well as rate of progression. PD is classified into two groups: infantile and late-onset, each having two subgroups. The need for two tests performed by separate methods (screening and confirmatory) is outlined. It is imperative to try to reduce the time to diagnosis and to recognise the possibilities of false-positive results. A multidisciplinary team approach to treatment of affected patients is optimum with, as team leader, a physician who has experience in managing this rare disorder. In this article, we present a brief overview of the disease and provide guidelines for diagnosis and management of this condition in South Africa.

Um modelo foi desenvolvido para predizer as probabilidades de nascimentos mensais utilizando dados de fertilidade de mamíferos. Utilizamos uma amostra de 147 fêmeas de capivaras (Hydrochoerus hydrochaeris) caçadas em fazenda da Ilha de Marajó, Brasil. Cada mês foi tratado no modelo como um multinômio com seis células representando os seis possíveis estados reprodutivos (cinco meses de gestação). Um teste de hipótese foi realizado para avaliar se uma curva cossena se ajustava às probabilidades de nascimentos. Os resultados não apoiaram um componente sazonal (F2,9 = 1,84, P = 0,21), enquanto houve apoio por parte dos resultados de censo direto (F3,23 = 87,29, P < 0,01). Algumas técnicas de abate eram tendenciosas ao abate de fêmeas prenhas (χ(2)1 = 7,2, P < 0,01), consequentemente dispersando a reprodução por todo o ano (F2,9 = 1,84, P = 0,21). O modelo continuou como uma poderosa ferramenta de previsão para uso com dados de fertilidade de mamíferos, desde que os dados não se encontrem tendenciosos para fêmeas prenhas.

A model was constructed to predict monthly birth probabilities using mammalian fertility data. We used a sample of 147 female capybaras (Hydrochoerus hydrochaeris) hunted on a farm on Marajó Island, Brazil. In the model each month was treated as a multinomial with six cells representing the six possible reproductive states (five months gestation). A hypothesis test was carried out to see whether a cosine curve would fit the birth probabilities. The results offer no support for a seasonal component (F2,9 = 1.84, P = 0.21), whereas results from a direct census do (F3,23 = 87.29, P < 0.01). Some hunting techniques were biased towards killing pregnant females (χ(2)1= 7.2, P< 0.01), thereby spreading reproduction throughout the year (F2,9 = 1.84, P = 0.21). The model remained a powerful predictive tool to be used with mammalian fertility data as long as the data are not biased towards pregnant females.

O artigo tem como objectivo a descrição do funcionamento de uma parceria eficaz entre os profissionais de avaliação de Programas de base comunitária, as organizações e as comunidades envolvidas. A avaliação pode abranger problemas vários como violência doméstica, delinquência juvenil, pessoas com deficiência ou contextos como escolas, organizações, comunidades ou mesmo a implementação de políticas. É descrita uma experiência de uma Fundação que pretendia ver o seu Programa de Intervenção Comunitária Avaliado, mas que resistia em recolher as informações junto da população sobre as suas necessidades. A partir deste exemplo, são identificados alguns dos critérios que podem estar na base do sucesso vs. insucesso das avaliações de programas comunitários numa perspectiva de colaboração entre a comunidade, as organizações e os avaliadores que se apresentam como facilitadores.

The aim of this article is the description of effective evaluation partnerships of community based programs involving the evaluators, the organizations, and the communities. The evaluation may adress problems like domestic violence, juvenile delinquency, people with disabilities or contexts as schools, organizations, communities or policies. The experience of a Foundation that intended to have it´s community based program evaluated is described, and resisted to consult with the community about their needs. Through this example are identified the criteria that may influence the sucess of the collaborative evaluations between communities, organizations and evaluation professionals that consider themselves as facilitators.