An investigation into the renewed need for the care and prevention of congenital disorders in South Africa.

Doctor of Philosophy in Internal Medicine. University of KwaZulu-Natal. Durban, 2017.Abstract available in PDF file

Constitutional, legal and regulatory imperatives for the renewed care and prevention of congenital disorders in South Africa

Medical genetic services for the care and prevention of congenital disorders have declined significantly in recent years due to competing health priorities, with previously developed services becoming compromised. With an infant mortality rate of 28/1 000 live births, South Africa (SA) has passed the threshold of 40/1 000 when such services should be implemented. This article outlines the international background and SA legislative framework for medical genetic services and their implementation. International, regional and national conventions, legislation, and policy were studied for relevance to genetic services and their implementation was evaluated, including a comparison of sector capacity between 2001 and 2015. A comprehensive legislative and regulatory framework exists in SA for the provision of medical genetic services, but implementation has been fragmented and unsustained. Congenital disorders and genetic services are not prominent in national strategies and excluded from interventions aimed at combating child mortality and non-communicable diseases. Capacity today is at a lower level than in 2001. The failure to recognise the burden of disease represented by congenital disorders is the underlying reason for the implementation and service shortfall. Child mortality rates have stagnated since 2011 and can be significantly further reduced by prioritising healthcare issues other than HIV/AIDS, including congenital disorders. It is now an imperative that SA responds to World Health Assembly Resolution 63.17 and prioritises congenital disorders as a healthcare issue, providing services to uphold the dignity and human rights of the most vulnerable members of society

A new forum to discuss health economics and genomics in South Africa

No abstract available.http://www.samj.org.zadm2022BiochemistryForestry and Agricultural Biotechnology Institute (FABI)GeneticsMicrobiology and Plant Patholog

Need for services for the care and prevention of congenital disorders in South Africa as the country’s epidemiological transition evolves

The lack of prioritisation of services for the care and prevention of congenital disorders is a global concern. Reducing child mortality (MDG4) can be achieved by middle- and some low-income nations, including South Africa (SA), by focusing on congenital disorders. We performed a situational analysis of epidemiological transition and services for congenital disorders in SA to highlight their renewed need, in the form of a review of epidemiological transition in SA from 1990 related to the HIV/AIDS epidemic and services for congenital disorders. In the early 1990s in SA decreasing infant and child mortality revealed the previously hidden burden of disease of congenital disorders. Approaches to confront this burden were developed and incorporated in national policy guidelines published in 2001. The emergent HIV epidemic buried the issue, and as services for HIV/AIDS developed, services for the care and prevention of congenital disorders were simultaneously neglected. They are now at a base lower than in 2001. Infant and child mortality rates are at a more advanced level than their previous best levels in the early 1990s, but they are stagnating. There is therefore a renewed need for services for the care and prevention of congenital disorders. The present limited state of these services must be rectified urgently. Services for the care and prevention of congenital disorders require prioritisation again in accordance with Resolution WHA63.17 of the World Health Organization, and to achieve the human dignity and constitutionally and legally enshrined rights of people affected by congenital disorders.

Circulating biomarkers of immune activation distinguish viral suppression from nonsuppression in HAART-treated patients with advanced HIV-1 subtype C infection

Please read abstract in article.This research was partially funded by a Grant from the Delegation of the European Union to South Africa: “Drug Resistance Surveillance and Treatment Monitoring Network for the Public Sector HIV Antiretroviral Treatment Programme in the Free State,” Sante 2007/147-790 and Medical Research Council of South Africa, Unlocking the Future 61509.http://www.hindawi.comam201

The Risk of orofacial cleft lip/palate due to maternal ambient air pollution exposure : a call for further research in South Africa

BACKGROUND: Despite being underreported, orofacial cleft lip/palate (CLP) remains in the top five of South Africa’s most common congenital disorders. Maternal air pollution exposure has been associated with CLP in neonates. South Africa has high air pollution levels due to domestic burning practices, coal-fired power plants, mining, industry, and traffic pollution, among other sources. We investigated air pollutant levels in geographic locations of CLP cases. METHODS: : In a retrospective case series study (2006–2020) from a combined dataset by a Gauteng surgeon and South African Operation Smile, the maternal address at pregnancy was obtained for 2,515 CLP cases. Data from the South African Air Quality Information System was used to calculate annual averages of particulate matter (PM) concentrations of particles < 10 µm (PM10) and < 2.5 µm (PM2.5). Correlation analysis determined the relationship between average PM2.5/PM10 concentrations and CLP birth prevalence. Hotspot analysis was done using the Average Nearest Neighbor tool in ArcGIS. RESULTS: Correlation analysis showed an increasing trend of CLP birth prevalence to PM10 (CC = 0.61, 95% CI = 0.38–0.77, p < 0.001) and PM2.5 (CC = 0.63, 95% CI = 0.42–0.77, p < 0.001). Hot spot analysis revealed that areas with higher concentrations of PM10 and PM2.5 had a higher proclivity for maternal residence (z-score = –68.2, p < 0.001). CLP birth prevalence hotspot clusters were identified in district municipalities in the provinces of Gauteng, Limpopo, North-West, Mpumalanga, and Free State. KwaZulu-Natal and Eastern Cape had lower PM10 and PM2.5 concentrations and were cold spot clusters. CONCLUSIONS: Maternal exposure to air pollution is known to impact the fetal environment and increase CLP risk. We discovered enough evidence of an effect to warrant further investigation. We advocate for a concerted effort by the government, physicians, researchers, non-government organizations working with CLP patients, and others to collect quality data on all maternal information and pollutant levels in all provinces of South Africa. Collaboration and data sharing for additional research will help us better understand the impact of air pollution on CLP in South Africa.https://www.annalsofglobalhealth.orgGeography, Geoinformatics and Meteorolog

Advancing diagnosis and research for rare genetic diseases in indigenous peoples

Achieving a diagnosis for Indigenous people living with a rare, often genetic, disease is crucial for equitable healthcare. The International Rare Disease Research Consortium convened a global Task Force to bridge the gap in diagnosing Indigenous rare diseases, and identify solutions to tackle the health inequity faced by Indigenous people.The IRDiRC Indigenous Population Task Force was supported by the Scientific Secretariat of IRDiRC, funded by the European Union through the European Joint Programme on Rare Disease (EJP RD) under the European Union’s Horizon 2020 Research and Innovation Programme.https://www.nature.com/ng2024-08-08hj2024BiochemistryGeneticsMicrobiology and Plant PathologySDG-03:Good heatlh and well-beingSDG-10:Reduces inequalitie

Constitutional legal and regulatory imperatives for the renewed care and prevention of congenital disorders in South Africa

Medical genetic services for the care and prevention of congenital disorders have declined significantly in recent years due to competing health priorities, with previously developed services becoming compromised. With an infant mortality rate of 28/1 000 live births, South Africa (SA) has passed the threshold of 40/1 000 when such services should be implemented. This article outlines the international background and SA legislative framework for medical genetic services and their implementation. International, regional and national conventions, legislation, and policy were studied for relevance to genetic services and their implementation was evaluated, including a comparison of sector capacity between 2001 and 2015. A comprehensive legislative and regulatory framework exists in SA for the provision of medical genetic services, but implementation has been fragmented and unsustained. Congenital disorders and genetic services are not prominent in national strategies and excluded from interventions aimed at combating child mortality and non-communicable diseases. Capacity today is at a lower level than in 2001. The failure to recognise the burden of disease represented by congenital disorders is the underlying reason for the implementation and service shortfall. Child mortality rates have stagnated since 2011 and can be significantly further reduced by prioritising healthcare issues other than HIV/AIDS, including congenital disorders. It is now an imperative that SA responds to World Health Assembly Resolution 63.17 and prioritises congenital disorders as a healthcare issue, providing services to uphold the dignity and human rights of the most vulnerable members of society