A review of key terminology and definitions used for birth defects globally.

Birth defects, also known as congenital disorders, are a significant health issue impacting at least five million births annually worldwide. For policymakers to mount a relevant healthcare response to care for those affected, the burden of disease of these conditions must be quantified. Estimates of the contribution of birth defects to under-5 child mortality and morbidity are generated by several groups globally. These estimates often differ, causing confusion for policymakers. While some differences may be attributed to the data sources and methods used, much is due to a lack of clarity in the terminology used for the group of disorders classed as "congenital". This study aimed to gain insight into the diversity of terms and definitions for birth defects, including those used routinely by relevant international/national organisations and in the peer-reviewed literature. This two-part study included (1) scoping review of peer-reviewed literature to identify terms and definitions in use for birth defects and (2) review of key websites and grey literature to identify terms and definitions used. The results of this study indicate a wide variety of terms being used, often interchangeably and undefined, in peer-reviewed publications, on institutional websites and related literature. This suggests a lack of clarity related to terminology and sets the scene for further discussion, recommending that the community of practice working on birth defects comes to a consensus on standard terminology and definitions for global uptake and implementation. Such standardisation will facilitate a common understanding of the burden of these disorders globally, regionally and within countries so that action can be taken to support affected children and their families.

Regenerative medicines: A new regulatory paradigm for South Africa.

Clinicians are increasingly using regenerative medicines to repair, replace, regenerate or rejuvenate lost, damaged or diseased genes, cells, tissues or organs. In South Africa, access to these novel gene therapies and cell and tissue-based products is limited. The human leukocyte antigen (HLA) diversity and a paucity of suitable HLA-identical unrelated donors, results in limited access to haematopoietic stem and progenitor cell transplantation (HSPCT). Cell-based products could increase this access. Genetic diversity can also manifest in local or region-specific rare congenital disorders, and in vivo gene therapies hold the promise of developing treatments and cures for these debilitating disorders. South Africa has a disproportionate mortality rate due to non-natural causes, with many surviving with permanent injuries and disabilities. Tissue-engineered cell-based products have the potential to restore many of those affected and improve quality of life and productivity. These factors create an urgency for South Africa to develop regenerative medicines to address the country's unique needs and to provide access to these new and innovative treatment modalities. Achieving this objective requires a well-coordinated effort by multiple stakeholders and role players. A critical component of a regenerative medicine ecosystem is establishing an enabling regulatory framework for these new classes of medicines. Here we provide a brief profile of South Africa, including its genetic diversity, economy, the impact of the burden of disease, health policy and the healthcare system. We address the regulation of medicines, how the existing framework can accommodate regenerative medicines, and the steps needed to establish a future regulatory framework.

Congenital disorders in South Africa: A review of Child Healthcare Problem Identification Programme (Child PIP) mortality data, 2005 - 2017.

BACKGROUND: Congenital disorders (CDs) form a major challenge for those affected, and for the structuring of services around their health needs. In South Africa (SA) the size and nature of the problem are unknown because reporting of CDs has been unreliable. OBJECTIVES: To ascertain the occurrence and spectrum of congenital disorders in children dying in SA hospitals participating in the Child Healthcare Problem Identification Programme (Child PIP). METHODS: Child PIP has been used for auditing in-hospital childhood deaths in children's wards in SA state hospitals since 2005. By 2017, over 60 000 audited deaths had been entered into the Child PIP database. We searched this database for CD occurrence and spectrum. RESULTS: The number of deaths where a CD diagnosis was given as the Main Cause of Death was 243, 0.4% of all-cause mortality. In 1 678 deaths, CDs were assigned as an Underlying Condition, a 2.8% occurrence. A diagnosis of CD was assigned 1 968 times, indicating an overall CD burden in the children who died of 3.2%, many children having more than one CD diagnosis. The spectrum of CDs was wide, with CDs of the heart being most prominent. CONCLUSIONS: These new data paint a broad picture of the CD challenge that confronts the SA health system, a challenge that will increase in importance with the current decline in infectious diseases.

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.

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

Intimacy and marital satisfaction in spouses.

The aim of this study was to investigate the relationship between intimacy and marital satisfaction of couples in different stages of the family life cycle. The Personal Assessment of Intimacy in Relationships (PAIR) questionnaire (Schaefer & Olson, 1981) and a subscale of the Enriching and Nurturing Relationship Issues, Communication and Happiness (ENRICH) questionnaire (Olson, Fournier, & Druckman, 1982) were administered to 57 couples. Significant differences between men and women were found on two of the five aspects of experienced intimacy (sexual and recreational) as well as for social and sexual discrepancy scores (difference between experienced and desired intimacy). With the exception of social intimacy as experienced by women, a positive correlation was found for both sexes between all the components of experienced intimacy and marital satisfaction. No differences were found for experienced intimacy or marital satisfaction according to family developmental stages.

A controlled study of genital mycoplasmas in amniotic fluid from patients with intra-amniotic infection.

Amniotic fluid (AF) was collected via a transcervical, intrauterine catheter from 52 patients with clinical intra-amniotic infection (IAI) and from 52 matched, uninfected controls. The AF was cultured for Mycoplasma hominis and Ureaplasma urealyticum as well as for aerobic and anaerobic bacteria. Eighteen (35%) patients with IAI and four (8%) controls had M. hominis in AF (P less than 0.001). Twenty-six (50%) patients with IAI and 26 (50%) control patients had U. urealyticum in AF (difference not significant). In the AF specimens of patients with IAI, 15 (83%) of the 18 with M. hominis also contained greater than or equal to 10(2) colony-forming units (cfu) of a high-virulence bacterial isolate/ml (P less than 0.05). Within the limitations of the experimental design, U. urealyticum in AF is not associated with clinical IAI, whereas, with qualitative cultures, M. hominis in AF is. However, in IAI, M. hominis is isolated most commonly from the AF of patients with greater than or equal to 10(2) cfu of a high-virulence bacterial isolate/ml.

Simian virus nomenclature, 1980.

Approximately 75 simian viruses, counterparts of other animal viruses, are recognized. Nomenclature of these isolates, in general, consists of an SV (simian virus) or SA (simian agent) numerical series with no attempt to group them according to virus families. The biologic characteristics of these viruses indicate they may be classified into recognized families and groups. A simple sequential numerical designation is recommended as a nomenclature within virus families and groups. Finalization of nomenclature would follow approval by the Study Groups of the International Committee on Taxonomy of Viruses.

Electronmicroscopical characterisation of simian papovavirus SA12.

Ultrastructural studies of simian virus SA12, growing in primary cultures of vervet monkey-kidney cells, have demonstrated a typical papovavirus capsid morphology and a diameter of 43 nm. The cytopathic nuclear characteristics, with the absence of virus crstals and elongated capsid forms, distinguish it from SV40 and the human papovaviruses. Like other papovaviruses, SA12 shows a strong affinity for cellular membranes.

Characterization of SA12 as a simian virus 40-related papovavirus of chacma baboons.

SA12 virus, originally isolated from an uninoculated South African vervet monkey kidney culture, was identified as a new member of the simian virus 40 (SV40)-polyoma subgroup of papovaviruses. The virus produced a cytopathic effect with nuclear enlargement in primary rhesus kidney cells. The virion had papovavirus morphology and a diameter of 44 to 45 nm. The DNA of the virus was a circular, double-stranded, superhelical molecule with a mean length 101% that of SV40 DNA and an estimated molecular weight of 3.3 X 10(6). The virus was found to be unrelated to other papovaviruses by neutralization, immune electron microscopy, and immunofluorescence tests with antiviral sera. SA12 virus-infected cells exhibited a capsid antigen, which has recently been found to be common to viruses of the SV40-polyoma subgroup. The virus readily transformed kideny cells from 10-day-old hamsters. Inoculation of transformed cells produced tumors in 3- to 4-week-old hamsters. The T antigens of SA12 and SV40 viruses were strongly and reciprocally cross-reactive. A high proportion of the sera of chacma baboons, Papio ursinus, and a comparatively lower proportion of the sera of vervet monkeys, Cercopithecus pygerythrus, had neutralizing antibodies to SA12 virus