Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?

Sudden cardiac death (SCD) is a major public health concern. In sub-Saharan Africa (SSA), including South Africa, there is a lack of reliable statistics on the incidence of SCD, even though there has been a fourfold increase in noncommunicable diseases (NCD), particularly cardiovascular diseases (CVD). Sudden cardiac death contributes to an estimated 50% of all cardiovascular deaths, which highlights South Africa's need for research into better detection, treatment and prevention.

The New South Wales Sudden Cardiac Arrest Registry: A Data Linkage Cohort Study.

Background: Sudden cardiac arrest (SCA) in young people aged 1 to 50 years often occurs with no presenting symptoms or risk factors prompting screening for cardiovascular disease prior to their cardiac arrest. Approximately 3,000 young Australians suffer from sudden cardiac death (SCD) each year, making this a major public health issue. However, there is significant variation in the way incidence is estimated resulting in discrepancy across reporting which impacts our ability to understand and prevent these devastating events.

Post mortem genetic testing in young individuals: What clinical medical practitioners need to know.

Forensic medical practitioners are in a unique position as they observe the exact pathology of various diseases in thousands of autopsies performed each year. Most medico-legal autopsies reveal an underlying, natural disease as the cause of death. Such data, relayed to the various stakeholders in the public health sector (including clinical medical practitioners), contribute to determining the population health status as well as identifying and dealing with priority areas.

Cardiovascular deaths: What do the genes say?

Cardiovascular deaths: What do the genes say?

Postmortem genetic testing in young individuals: What clinical medical practitioners need to know.

The death of a young person is most often a tragic occurrence, more so when this death was unexpected. Forensic pathologists are mandated to investigate such deaths, and there has been a strong move internationally towards genetic testing as an additional investigative tool. The aim of our article is to bring the advantage of implementing the so-called molecular autopsy in a local setting to the attention of medical practitioners.

The added value of molecular-based diagnostics in the African forensic medical setting.

Sudden unexpected infant death (SUDI) is reported to be an extraordinarily high burden in sub-Saharan Africa, with the incidence rate in South Africa among the highest in the world. It is common for the cause of many such infant deaths to remain unexplained even after a full medico-legal death investigation, and then to be categorised as a sudden unexplained infant death (SUID). Fortunately, advances in molecular-based diagnostics allow researchers to identify numerous underlying inherited cardiac arrhythmogenic disorders in many SUDI cases, with a predominance of variants identified in the gene.

Practical tips to using formalin-fixed paraffin-embedded tissue archives for molecular diagnostics in a South African setting.

Background: Formalin-fixed paraffin-embedded (FFPE) tissue archives in hospitals, biobanks, and others offer a vast collection of extensive, readily available specimens for molecular testing. Unfortunately, the use of tissue samples for molecular diagnostic applications is challenging; thus, the forensic pathology FFPE tissue archives in Africa have been a largely unexploited genetic resource, with the usability of DNA obtainable from these samples being unknown.

Intervention: The study, conducted from January 2015 to August 2016, determined the usefulness of FFPE tissue as a reliable source of genetic material for successful post-mortem molecular applications and diagnostics.

Sudden Unexpected Death in Infancy [SUDI]: What the clinician, pathologist, coroner and researchers want to know.

The loss of an apparently healthy infant is confronting for any family, puzzling for a clinician and challenging for the pathologist charged with the task of demonstrating a cause for death. The term "cot death" evolved to "sudden infant death syndrome" [SIDS] and now "sudden unexpected death in infancy [SUDI]" as the epidemiology and pathology of infant death changed. Community interventions were successful in changing sleep practices for young babies.

Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa.

To determine variations in the SCN5A gene linked to inherited cardiac arrhythmogenic disorders in sudden, unexplained infant death (SUID) cases examined at the Pretoria Medico-Legal Laboratory, South Africa. A retrospective study was conducted on SUID cases and controls, analyzing DNA extracted from archived formalin-fixed, paraffin-embedded (FFPE) myocardial tissue samples as well as blood samples. A total of 48 FFPE tissue samples (cases), 10 control FFPE tissue samples and nine control blood samples were included.

Long QT syndrome and sudden unexpected infant death.

Long QT syndrome (LQTS) is an inheritable primary electric disease of the heart characterised by abnormally long QT intervals and a propensity to develop atrial and ventricular tachyarrhythmias. It is caused by an inherited channelopathy responsible for sudden cardiac death in individuals with structurally normal hearts. Long QT syndrome can present early in life, and some studies suggest that it may be associated with up to 20% of sudden unexplained infant death (SUID), particularly when associated with external stressors such as asphyxia, which is commonly seen in many infant death scenes.

Venous air embolism: An under-recognised entity in blunt-force trauma and the importance of radiology.

Air embolism (AE) is considered a rare event and can be either iatrogenic or traumatic. Various post-mortem methods to detect AE exist, of which radiology is preferred. The presence of air in the heart can be demonstrated using special dissection techniques where the heart is opened under water or by needle puncture from a water-filled syringe.

Sharp force fatalities at the Pretoria Medico-Legal Laboratory, 2012-2013.

Background: South Africa's crude death rate was recorded as the highest in the world in 2014. In 2013, 47 murders occurred daily nationwide, and it was confirmed that sharp force fatalities were frequent events. The aim of our study was to review the fatalities of persons admitted to the Pretoria Medico-Legal Laboratory over a two-year period.

Fatalities involving illicit drug use in Pretoria, South Africa, for the period 2003 - 2012.

Background: Globally, illicit drugs are responsible for many fatalities annually, yet accurate data on the nature and extent of these deaths in South Africa (SA) are lacking.

Objectives: To investigate the presence and profile of illicit drugs detected in deceased persons who were subjected to medicolegal autopsies and upon whom analyses were carried out in search of illicit drugs in their body fluids at the Pretoria Medico-Legal Laboratory (PMLL), SA, over a 10-year period.

Methods: A retrospective descriptive case audit was conducted for the period 2003 - 2012.

Sudden and unexpected childhood deaths investigated at the Pretoria Medico-Legal Laboratory, South Africa, 2007 - 2011.

Background:  Sudden and unexpected death is well known to occur in infants, and although sudden deaths are less frequent after the first birthday, they still account for a significant proportion of childhood deaths. In 2009, 1.9% of the total deaths in the USA were childhood deaths.

Managing the remains of fetuses and abandoned infants: A call to urgently review South African law and medicolegal practice.

This article reviews South African (SA) law and its impact on the medicolegal management of fetal remains emanating from elective and therapeutic termination of pregnancies, stillbirths and miscarriages and the remains of abandoned or exposed infants. It was found that remains are treated differently, some constituting medical waste while others have sufficient status in law to allow for burial. This approach results in some women or couples being denied a choice with regard to disposal via culturally relevant practices, and is insensitive to the fact that all remains ultimately constitute human remains.

The prevalence of HIV in the sudden, unexplained and unexpected death population at the Pretoria Medico-Legal Laboratory.

Purpose: To determine the prevalence of HIV in the sudden, unexplained and unexpected (SUU) death population admitted to the Pretoria Medico-Legal Laboratory.

Methods: This study was conducted at the Pretoria Medico-Legal Laboratory. Blood samples were obtained from decedents who died suddenly and/or unexpectedly, during autopsy, by a forensic pathologist.

"Death at the wheel" due to tuberculosis of the myocardium: a case report.

According to the World Health Organization, an estimated 9 million people contracted tuberculosis (TB) with approximately 25% of TB cases being from Africa. TB was reported as the number one cause of natural death for the period 2011-2013 in South Africa. The first reported case of myocardial TB was in 1664 by Maurocordat and the first reported case of sudden cardiac death due to TB was made in 1977.

Evaluating current knowledge of legislation and practice of obstetricians and gynaecologists in the management of fetal remains in South Africa.

Background: In the clinical setting, the main legislative provisions governing the management and 'disposal' of fetal remains in South Africa are the Choice on Termination of Pregnancy Act 92 of 1996 and the Births and Deaths Registration Act 51 of 1992.

Objectives: To determine obstetricians' and gynaecologists' current knowledge of this legislation. Current practice with regard to certification of death and methods of disposal of fetal material was also reviewed.

Deaths from bee stings: a report of three cases from Pretoria, South Africa.

In South Africa bee stings are most commonly caused by either Apis mellifera capensis or A. mellifera scutellata, indigenous species which are notoriously aggressive when compared to European honey bees. According to Statistics South Africa, 109 deaths were documented for the period 2001-2011 as having been caused by hornets, wasps, and bees (ICD10-X26).

Drowning in Pretoria, South Africa: A 10-year review.

Drowning is classified as the 3rd leading cause of accidental deaths worldwide and is deemed to be a preventable cause of death. Bodies retrieved from a water medium pose several challenges to the forensic pathologist with the diagnosis of drowning being primarily one of exclusion. The aim of this study was to do a retrospective descriptive case audit of bodies retrieved from water and immersion related deaths, which were investigated at the Pretoria Medico-Legal Laboratory (PMLL) over a 10 year period (January 2002 through December 2011).