The implementation and utility of clinical exome sequencing in a South African infant cohort.

Genetic disorders are significant contributors to infant hospitalization and mortality globally. The early diagnosis of these conditions in infants remains a considerable challenge. Clinical exome sequencing (CES) has shown to be a successful tool for the early diagnosis of genetic conditions, however, its utility in African infant populations has not been investigated.

Pediatric Acute Respiratory Distress Syndrome in South African PICUs: A Multisite Point-Prevalence Study.

Objectives: To describe the prevalence of pediatric acute respiratory distress syndrome (pARDS) and the characteristics of children with pARDS in South African PICUs.

Design: Observational multicenter, cross-sectional point-prevalence study.

Setting: Eight PICUs in four South African provinces.

Prognostic factors and scoring systems associated with outcome in pediatric acute liver failure.

Background: Pediatric acute liver failure (PALF) is an uncommon, devastating illness with significant mortality. Liver transplantation remains the mainstay of treatment for irreversible PALF. The purpose of this study was to determine the etiology and prognostic factors associated with outcome of PALF in South Africa and to evaluate prognostic scoring systems used.

Healthcare disparity and its associations with cytomegalovirus disease in pediatric liver transplant recipients in South Africa.

Background: Cytomegalovirus (CMV) infection and disease are preventable complications following pediatric liver transplantation (PLT), despite the use of prophylaxis to minimize the risk of CMV disease. We evaluated the incidence and complications of CMV disease in PLT recipients in South Africa (SA), with particular reference to potential differences in outcome between state and private sector patients.

Methods: Medical records of patients younger than 16 years of age who received liver transplants between January 1, 2012, and August 31, 2018 were analyzed.

Paediatric liver transplantation in Johannesburg revisited: 59 transplants and challenges met.

Background: A paediatric liver transplant programme was started at the Wits Donald Gordon Medical Centre, Johannesburg, South Africa (SA), in November 2005. We reported on the first 29 patients in 2012. Since then we have performed a further 30 transplants in 28 patients, having met the major challenge of donor shortage by introducing a living related donor programme and increasing the use of split liver grafts.

Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: a case report.

Liver transplantation is an accepted treatment modality in the management of MSUD. To our knowledge, ours is only the second successful case to date of a patient with MSUD receiving an allograft from an RLD who is a heterozygous carrier for the disease. In view of the worldwide shortage of available organs for transplantation, heterozygote to homozygote transplantation in the setting of MSUD may provide a viable alternative for those awaiting transplantation.

Paediatric liver transplantation in Johannesburg revisited: 59 transplants and challenges met.

Background: A paediatric liver transplant programme was started at the Wits Donald Gordon Medical Centre, Johannesburg, South Africa (SA), in November 2005. We reported on the first 29 patients in 2012. Since then we have performed a further 30 transplants in 28 patients, having met the major challenge of donor shortage by introducing a living related donor programme and increasing the use of split liver grafts.