Identification of Potential Biomarkers in Peripheral Blood Supernatants of South African Patients with Syphilitic and Herpetic Uveitis

AbstractLittle is known about the pathophysiological mechanisms of relapse in first-episode schizophrenia, which limits the study of potential biomarkers. To explore relapse mechanisms and identify potential biomarkers for relapse prediction, we analyzed gene expression in peripheral blood in a cohort of first-episode schizophrenia patients with less than 5 years of evolution who had been evaluated over a 3-year follow-up period. A total of 91 participants of the 2EPs project formed the sample for baseline gene expression analysis. Of these, 67 provided biological samples at follow-up (36 after 3 years and 31 at relapse). Gene expression was assessed using the Clariom S Human Array. Weighted gene co-expression network analysis was applied to identify modules of co-expressed genes and to analyze their preservation after 3 years of follow-up or at relapse. Among the 25 modules identified, one module was semi-conserved at relapse (DarkTurquoise) and was enriched with risk genes for schizophrenia, showing a dysregulation of the TCF4 gene network in the module. Two modules were semi-conserved both at relapse and after 3 years of follow-up (DarkRed and DarkGrey) and were found to be biologically associated with protein modification and protein location processes. Higher expression of DarkRed genes was associated with higher risk of suffering a relapse and early appearance of relapse (p = 0.045). Our findings suggest that a dysregulation of the TCF4 network could be an important step in the biological process that leads to relapse and suggest that genes related to the ubiquitin proteosome system could be potential biomarkers of relapse.

Download Full-text

Development of a Duchenne Muscular Dystrophy registry for children in South Africa to optimize care

Journal of the International Child Neurology Association ◽

10.17724/jicna.2018.146 ◽

2019 ◽

Author(s):

Alhaji Alusine Jalloh ◽

Wendy Mathiassen ◽

Tina-Marié Wessels ◽

Alvin Ndondo ◽

Jo M Wilmshurst

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

South African ◽

Sequential Analysis ◽

Data Entry ◽

Global Network ◽

Research Centre ◽

Disease Registry ◽

Targeted Interventions ◽

African Patients

Background Duchenne Muscular Dystrophy (DMD) is the most prevalent and lethal of the inherited dystrophies. Globally, the incidence is reported at 1 in 3500 live male births. There is currently no cure for the disease. With the possibility of gene therapy becoming available, patients who would qualify for such treatment need to be identified. Further, understanding disease expression in a population is essential to focus targeted interventions, such as corticosteroids, to ensure they are safe and effective in the local setting. By maintaining a DMD specific disease registry this information can be attained. Objective: This report describes the concept and design of the first South African DMD disease registry using Research Electronic Data Capture (REDCap) Methods: The registry was developed using REDCap’s web-based online design, accessed through the Clinical Research Centre (CRC) in the Faculty of Health Sciences at the University of Cape Town. Electronic case report forms were created from these clinical data using REDCap and for specific variables serial entries were possible relating to disease progression. International data standards were adopted as proposed by TREAT-NMD, a global network of registries on DMD to ensure our data is compatible with this and other international registries. Results: Retrospective data entry combined with dynamic prospective recording of data was utilized in this project. Building on an existing database, 100 confirmed DMD boys are currently eligible for inclusion into the registry. As our registry is an on-going study, sequential analysis of accumulated data will be done going forward to review trends on our patients with DMD. Conclusions: This report describes the concept and design of a DMD registry and the steps followed to its establishment with REDCap. The focus is to consolidate clinical and genetic information on South African patients with DMD, commencing with the local centre’s patient cohort but rolling out access to other South African centres to create a national resource, which is internationally relevant. Ideally this template could be duplicated in the conceptualisation of disease registries for other key conditions.

Download Full-text