Publications by authors named "A Terblanche"
Article Synopsis
- Chronic granulomatous disease (CGD) is a genetic immune disorder leading to frequent infections, inherited in either X-linked or autosomal recessive forms, and this study explores the differences in symptoms (phenotypes) between these two forms using Human Phenotype Ontology (HPO) terms.
- Data from 90 genetically diagnosed CGD patients from Asia and Africa were analyzed to compare the onset and types of infections experienced by X-linked (XL) and autosomal recessive (AR) patients.
- Findings revealed that XL-CGD patients tend to have earlier onset and more severe infections, with specific symptoms like perianal abscess and BCGitis being more common, highlighting the need for distinguishing features for clinical diagnosis.
Unlabelled: Biliary atresia (BA) is a progressive fibrosing cholangiopathy of infancy, the most common cause of cholestatic jaundice in infants and the top indication for liver transplantation in children. Kasai portoenterostomy (KPE) when successful may delay the requirement for liver transplantation, which in the majority offers the only cure. Good outcomes demand early surgical intervention, appropriate management of liver cirrhosis, and in most cases, liver transplantation.
View Article and Find Full Text PDFBackground: Chronic liver disease with conjugated hyperbilirubinaemia and failure to thrive can have multifactorial aetiologies. Investigations can be complex and difficult especially when obscured by a viral infection affecting liver function.
Methods: A 5 month old male infant was referred for investigation of chronic liver disease and a history of jaundice with multiple febrile episodes.
Objective: Transplant a liver from an HIV-positive mother to her HIV-negative child to save the child's life.
Design: A unique case of living donor liver transplantation from an HIV-positive mother to her HIV-negative child in South Africa. Two aspects of this case are ground-breaking.
Background And Aims: Under-reporting of adverse drug reactions (ADRs) by health-care professionals (HCPs) is a worldwide problem. Spontaneous reporting in hospitals is scarce and several obstacles have been identified for this. Improved hospital-based reports could make important contributions to future care.
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