Now showing items 1-10 of 12
Aminoglycoside-induced hearing loss in HIV-positive and HIV-negtive multidrug-resistant tuberculosis patients
(Health and Medical Publishing Group (HMPG), 2012-06)
Background. Ototoxicity following aminoglycoside treatment for multidrug-resistant tuberculosis (MDR-TB), is a significant problem. This study documents the incidence of ototoxicity in HIVpositive and HIV-negative ...
Aminoglycoside-induced hearing loss : South Africans at risk
(Health and Medical Publishing Group (HMPG), 2009)
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6) : support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
(BioMed Central, 2006-03)
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterized by progressive degeneration of right ventricular myocardium, arrhythmias and an increased risk of sudden death at a ...
A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness
(BioMed Central, 2009-01)
Background: South Africa has one of the highest incidences of multidrug-resistant tuberculosis (MDR-TB) in the world. Concomitantly, aminoglycosides are commonly used in this country as a treatment against MDR-TB. To date, ...
Huntington's disease-like 2 in South Africa
(Health and Medical Publishing Group (HMPG), 2008)
[No abstract available]
A new tool for prioritization of sequence variants from whole exome sequencing data
(BioMed Central, 2016-07)
Background: Whole exome sequencing (WES) has provided a means for researchers to gain access to a highly enriched subset of the human genome in which to search for variants that are likely to be pathogenic and possibly provide ...
Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene
(BioMed Central, 2009-10)
Background: DJ-1 forms part of the neuronal cellular defence mechanism against oxidative insults, due to its ability to undergo self-oxidation. Oxidative stress has been implicated in the pathogenesis of central nervous ...
Factors influencing the development of early- or late-onset Parkinson's disease in a cohort of South African patients
(Health & Medical Publishing Group, 2012-10-01)
Background. Neurodegenerative disorders such as Parkinson’s disease (PD) contribute significantly to global disease burden. PD can be categorised into early-onset PD (EOPD) with an age at onset (AAO) of ≤50 years and ...
Identification of a common founder couple for 40 South African Afrikaner families with Parkinson’s disease
(Health & Medical Publishing Group, 2014-06)
Background. Afrikaners are a unique ethnic group in South Africa (SA) with well-documented ancestral records spanning a period of over 350 years. They are mainly descended from Dutch, German and French settlers to SA in ...
Altered mitochondrial respiration and other features of mitochondrial function in parkin-mutant fibroblasts from parkinson’s disease patients
(Hindawi Publishing Corporation, 2016)
Mutations in the parkin gene are the most common cause of early-onset Parkinson’s disease (PD). Parkin, an E3 ubiquitin ligase, is involved in respiratory chain function, mitophagy, and mitochondrial dynamics. Human cellular ...