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

South African Congenital Disorders Data; 2006-2014

Background. The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006; but no reports on the data collected; methodology; achievements or challenges have been published to date. Objectives. To ascertain the effectiveness of the current national CD surveillance system and its implementation. Method. A descriptive; retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received; types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014. Results. A total of 14 571 notifications were received; including 13 252 CDs and 1 319 zero notifications; across all nine provinces. Commonly reported CDs included Down syndrome; cleft lip and palate; talipes equinovarus; neural tube defects and albinism. Conclusions. The major challenges identified included erratic compliance by health facilities and a lack of healthcare providers trained in human genetics related to CDs. This has led to misdiagnosed and undiagnosed CDs; collectively resulting in under-reporting of cases by 98% during the review period. Owing to limited human and financial resources; it is recommended that the surveillance system be modified into an electronic format. This should be piloted alongside relevant training in specific sentinel sites; to improve data coverage and quality for further evaluation

A Deadly Combination - HIV and Diabetes Mellitus: Where are we now?

BACKGROUND:The combination of HIV infection and diabetes mellitus (DM) represents a collision of two chronic conditions. Both HIV and DM increase the risk of developing tuberculosis (TB). Health resources in developing countries are already under strain as a result of the TB epidemic and poor diabetic control would further worsen this epidemic. Optimal diabetic control provides one avenue of curbing the TB epidemic in developing countries.OBJECTIVES:To establish if there is a difference in blood pressure; lipid and glycaemic control and complications between HIV-infected and uninfected diabetic patients; and to compare characteristics among HIV-infected diabetic patients between those with optimal and sub- optimal glycaemic control.METHODS:This was a retrospective chart review of all patients who visited the Edendale Hospital diabetic clinic; Pietermaritzburg; from 1 October 2012 to 30 September 2013.RESULTS:There were statistically significant differences noted in the following parameters between HIV-infected and uninfected diabetic patients: (i) mean HbA1c% (11.08% v. 10.14%; respectively); (ii) nephropathy defined by proteinuria (25.66% v. 15.43%); (iii) neuropathy (48.68% v. 42.10%); and (iv) Kidney Disease Outcomes Quality Initiative (KDOQI) stage =2 chronic kidney disease (30.87% v. 41.67%). There were no significant differences noted in the percentage of patients achieving the following target parameters between the two cohorts: (i) blood pressure (42.11% v. 35.62%); (ii) total cholesterol (36.84% v. 34.67%); and (iii) triglycerides (42.76% v. 40.19%). Within the HIV-infected diabetic cohort 85.23% displayed suboptimal glycaemic control. A significant percentage of HIV-infected diabetic patients on antiretroviral (ARV) therapy (89.36%) had suboptimal glycaemic control. HIV-infected female diabetic patients showed a significant increased waist circumference when compared with their HIV-uninfected counterparts.CONCLUSION:HIV-infected diabetic patients had significantly poorer blood sugar control and a higher incidence of neuropathy and nephropathy (when defined by overt proteinuria). There was a non-significant difference noted between the HIV-infected and uninfected diabetic patients with regard to blood pressure and lipid control. The majority of HIV-infected patients on ARVs failed to achieve target glycaemic control. Obesity remains a global challenge; as noted in both the HIV-infected and uninfected diabetic patients

Delay and Poor Diagnosis of Down Syndrome in KwaZulu-Natal; South Africa: A Retrospective Review of Postnatal Cytogenetic Testing

BACKGROUND:Down syndrome (DS) is the most common chromosomal disorder in newborns. Until 20 years ago DS was considered rare in black African children in South Africa (SA). Lack of awareness of DS on the part of medical staff in SA; and difficulty in diagnosing it; appear to persist. OBJECTIVES:To establish an epidemiological profile of DS and investigate the ability of clinicians in KwaZulu-Natal Province (KZN); SA; to make accurate clinical diagnoses of DS.METHODS:Records at the South African National Blood Service cytogenetic laboratory in Pinetown; KZN; were examined for all tests for clinically suspected DS undertaken during January 2009 - December 2013 and all cytogenetically proven DS test results. Age at diagnosis; the hospital from where the test was sent and type of chromosomal pattern for each confirmed DS test result were recorded. RESULTS:Of a total of 1 578 tests requested; 875 confirmed DS; indicating that clinicians correctly clinically diagnosed DS 55.4% of the time. The average age of cytogenetic diagnosis of DS was 1 year and 20 days. The minimum population prevalence of DS was 0.8/1 000.CONCLUSIONS: The diagnosis of DS is a challenge in KZN; potentiating missed opportunities for early intervention. The relatively low population prevalence of DS may be attributable to a lack of confirmatory cytogenetic tests or missed clinical diagnoses. It may also be attributable to a high mortality rate for children with DS in the province

Understanding the Experiences of Doctors who Undertake Elective Surgery on HIV/AIDS Patients in an Area of High Incidence in South Africa

This study investigates the experiences of doctors who perform elective surgical procedures in an area of South Africa with a high incidence of HIV and AIDS. A qualitative study approach was adopted. Interviews were individually conducted with 15 doctors. The transcribed interviews were read four times; each with a different data-collection purpose; and follow-up interviews were carried out when it was necessary to complete the data set. Surgical doctors from two semi-urban hospitals and one rural hospital in northern KwaZulu-Natal province took part in the study. The analysis of the interviews rendered four areas of concern in the experiences of doctors who perform surgery on HIV/AIDS patients. These were: personal factors; patient factors; factors relating to the structure of the health system; and factors concerning protocols for the treatment of patients with HIV or AIDS. Although the doctors were altruistic in their approaches to operating on HIV/AIDS patients; they commonly mentioned the increased levels of stress they experience as a result of a multiplicity of issues surrounding the treatment and care of an HIV/AIDS patient specifically. The public health system has not made special arrangements to deal with the increased patient loads in hospitals as a result of the HIV epidemic; and this will have to be addressed as the number of HIV/AIDS patients increases