Publications by authors named "Alta 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.
Background: 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: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields.
View Article and Find Full Text PDFObjectives: To determine the efficacy and safety of adjunctive corticosteroid therapy in clinical Pneumocystis jiroveci pneumonia (PCP) in infants exposed to HIV infection.
Design: Double-blind randomised placebo-controlled trial.
Methods: Infants with a clinical diagnosis of PCP, based on an 'atypical' pneumonia with: (i) hypoxia out of proportion to the clinical findings on auscultation; (ii) C-reactive protein count less than 10 mg/1; (iii) lactate dehydrogenase level above 500 IU/1; (iv) compatible chest radiograph findings; and (v) positive HIV enzyme-linked immunosorbert assay (ELISA) were included in the study.