Single-centre experience of allogeneic haemopoietic stem cell transplant in paediatric patients in Cape Town, South Africa

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

Nephron-sparing surgery for bilateral wilms' tumours: a single-centre experience with 23 cases

Introduction: The challenge of management with bilateral Wilms' tumours is the eradication of the neoplasm; while at the same time preserving renal function. Surgical management with a variety of nephron-sparing techniques; combined with chemotherapy and occasionally supplemented by transplantation has evolved over the last 30 years to achieve remarkable success. We document the experience of a single centre in a developing country. Material and Methods: Twenty-three bilateral Wilms' tumours were seen in our service between 1981 and 2007. Treatment was; in most cases; according to National Wilms' Tumour Study Group protocols; with initial bilateral biopsy; neoadjuvant chemotherapy; and tumourectomy. Technique of nephrectomy included full mobilization of the tumour-involved kidney; topical cooling with slush ice; vascular exclusion; tumour resection and reconstruction of the remnant kidney. Results: Twelve patients are alive and free of disease one to 15 years after treatment; all with well-preserved renal function (lowest glomerular filtration rate was 65 ml/min per (1.73 m 2 ). None of the survivors have hypertension. Eleven have died (two of unrelated disease) including six of the seven with spread outside the kidney. All three with unfavourable histology are alive. Four of the five metachronous presentations are alive; as are eight of 12 patients with synchronous bilateral tumours who presented since 2000. Conclusions: Appropriate chemotherapy and nephron-sparing surgery can achieve good results with preservation of adequate renal function in nearly all cases. Unfavourable histology did not have a reduced survival in our series. Metastatic spread outside the kidney had a poor prognosis

A model to search for birth probabilities of mammal populations using fertility data / Um modelo para busca por probabilidades de nascimentos de populações de mamíferos utilizando dados de fertilidade

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.

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.

Megaloblastic anaemia; diabetes and deafness in a 2-year-old child

Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or; rarely; congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus; both of which proved responsive to pharmacological doses of thiamine. She was also found to have sensorineural hearing loss. Also known as Rogers' syndrome; thiamine-responsive megaloblastic anaemia is the result of inactivating mutations in a gene encoding a thiamine transporter. A clinical diagnosis is supported by characteristic bone marrow findings and can be confirmed by demonstrating apoptosis in skin fibroblasts cultured in thiamine-depleted medium. Where available; DNA sequencing is definitive. There is rapid reticulocytosis after thiamine administration. We recommend a trial of therapy for megaloblastic anaemia not responding to folate and vitamin B12; especially in a deaf and/or diabetic child