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. When a multidisciplinary approach is taken in cases of sudden unexpected death, the benefits to family members, and society as a whole, are irrefutable.

Cardiovascular deaths: What do the genes say?

Cardiovascular deaths: What do the genes say?

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. In South Africa (SA) this proportion was much higher at 11.85%. According to the law, sudden and unexpected deaths are generally investigated as unnatural deaths. Establishing an exact underlying anatomical cause of death will depend on available resources and can be difficult in a substantial proportion of cases. METHODS:  A retrospective descriptive case audit was conducted at the Pretoria Medico-Legal Laboratory (PMLL), SA, from 1 January 2007 through to 31 December 2011. All children aged 1 - 18 years who died suddenly and unexpectedly were included. RESULTS:  Ninety-eight cases were identified, which constituted nearly 1% of total admissions to the PMLL. The majority of the deaths were of children aged 1 - 5 years, and the male/female ratio was 1.04:1. In the largest proportion of cases (n=28, 28.6%), the medicolegal investigation, including autopsy and ancillary investigations, did not establish an underlying anatomical cause of death. In the cases where a cause of death was established, pneumonia was the most common diagnosis (n=22, 22.4%). CONCLUSION:  The fact that the cause of the largest proportion of deaths could not be ascertained emphasises the need for consideration of additional investigative techniques, such as molecular/genetic screening, which have provided an underlying cause of death in a significant number of cases in other countries. There is a lack of published research on the causes and incidence of sudden unexpected deaths in children in SA, and further research in this area is needed.

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. RESULTS: Screening for illicit drugs was requested in 385 out of 22 566 medicolegal autopsies. Results were available for only 281 of these cases, with 154 cases showing the presence of one or more illicit drugs. The demographic profile of positive cases indicated the majority to be male (90.3%) and white (85.1%). Decedents who tested positive for illicit drugs were predominantly aged between 20 and 30 years (51.9%). The most frequently detected drug was heroin, the presence of which was confirmed in 35.2% of cases, followed by cocaine in 19.9%. Alcohol in combination with an illicit drug or drugs was detected in 56 cases (36.4%). CONCLUSIONS: Results from this study indicate that illicit drugs were implicated in a considerable number of fatalities in Pretoria. However, it is believed that the figures are a gross under-representation of the actual number of drug users who died during this period. It is therefore recommended that further research be conducted and that drug screening be requested routinely when unnatural deaths are investigated at medicolegal mortuaries, not only to ensure the administration of justice but also to obtain more accurate data for purposes of public health programmes and improve insight into the burden of illicit drug use in SA.

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). A total of 346 cases were identified for inclusion into this study. In 6% (20) of these cases, the death was not related to drowning; in 14% (48) no clear cause of death could be ascertained and in 278 cases (80%) the cause of death was considered to have been due to drowning. Infants (under 1 year, of age) constituted 41 (15%) of the cases; toddlers (aged 1-2 years) comprised 52 (19%) cases; children (aged 2-13 years) 49 (18%) cases; adolescents (aged 13-18 years) comprised 10 (3%) cases; adults (above 18, years) made up 126 (45%) of the cases. The majority of the drownings, occurred in swimming pools [125 cases (38%)]. In infants 23 (56%) of, drownings occurred in swimming pools followed by buckets [7 cases (17%)]. Sixty-nine per cent of toddler drownings (36 cases) occurred in swimming, pools. In the adult population, 40 (32%) of cases occurred in pools and 35 cases (28%) in rivers. Positive blood alcohol results were recorded in 48, (42%) out of 113 cases where the test was requested, 40 (35%) of these, cases higher than 0.05 g per 100 ml. This study suggests that many drowning deaths in Pretoria may be preventable by introducing greater public awareness of the risks and instituting relatively simple, protective measures.

The medico-legal investigation of abandoned fetuses and newborns--a review of cases admitted to the Pretoria Medico-Legal Laboratory, South Africa.

There is a dearth of literature on the extent of fetal or newborn abandonment or "dumping" and the medico-legal investigation procedures these cases require. This is despite the fact that these occurrences are a worldwide phenomenon and by definition involve criminal law concerns such as illegal abortion, concealment of birth, murder, or neonaticide, depending on the country concerned. This article contributes to current literature in both respects and provides a retrospective case audit for the period 2004-2008 pertaining to all abandoned newborns and fetuses admitted to the Pretoria Medico-Legal Laboratory (PMLL) in South Africa. Demographic details, scope, and nature of the medico-legal investigation as well as formulation of cause of death were recorded. A total of 289 cases were identified for inclusion in this study, 57% of which were considered to have been non-viable fetuses, while 45 of the viable fetuses were deemed to have been stillborn. These instances involve the crimes of concealment of birth and at times illegal abortion, yet prosecution of these cases are relatively unheard of. Signs of live birth were identified in 38 of the cases in the study. Of these infants, 9 were deemed to have died from injuries they have sustained, and in a further 9 cases, no anatomical cause of death could be identified. Homicidal cases should be brought in cases where death ensued as a result of abandonment; however, it is not known how many cases were prosecuted. A comparatively large number of cases were found to have been admitted to the Pretoria Medico-Legal Laboratory. This is alarming because South African abortion laws are liberal and services are free at point of access in the public health care sector. A substantial percentage of cases of abandoned infants were found to have shown signs of life after birth implying a homicidal manner of death or death by abandonment, but it seems these cases are merely shelved.

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. Understanding the magnitude of the problem, identifying the most commonly injured area and the mechanism of death in cases where the patient died in hospital could aid in the clinical management of some of these cases in order to reduce mortality. METHOD: A retrospective descriptive case audit was conducted at the Pretoria Medico-Legal Laboratory from January 2012 through to December 2013. RESULTS: A total of 173 applicable cases were included. These comprised 5% of the annual case load. Most of the injured persons were male (84%) and aged 21-30 years (50%). Only 27 (16%) decedents were hospitalised and 12 (44%) survived for ≥ 1 day. The most predominantly injured area on the body was the thoracic area (65% of cases). Positive alcohol concentration in the blood was reported in 109 (66%) cases (a range of 0.01 g/100ml to 0.35 g/100ml). Exsanguination was the leading mechanism of death (85% of cases). CONCLUSION: Compared with various international regions, an exceptionally higher percentage of these fatalities occur in Pretoria, South Africa. Most stab wounds penetrated the body's thoracic region, consequently perforating the heart and lungs, resulting in immediate death. The proportion of hospital fatalities of patients who sustained abdominal and extremity injuries, and who had already survived ≥ 1 day, was a worrying finding into which further research is required. It is surprising that these patients mostly succumbed to blood loss.

The forensic autopsy as a teaching tool: attitudes and perceptions of undergraduate medical students at the University of Pretoria, South Africa

Background. Numerous articles have been published on the use of autopsies in training medical students in anatomy and different branches of pathology. Some authors have described the emotional response of students who attend such postmortem sessions. Forensic pathology is an important subdivision of pathology. In some countries undergraduate medical students are expected to attend postmortem examinations on persons who died from traumatic causes. Objective. To determine the attitudes and perceptions of 5th-year medical students with regard to forensic postmortem examinations at the University of Pretoria; South Africa. Methods. A questionnaire was voluntarily completed by medical students on the last day of the practical rotation.Results. The overall rating of the practical rotation was 82%. The strengths; weaknesses; opportunities and threats (SWOT) analysis indicated the following as strengths: record keeping; legislation review and traumatology description; as weaknesses: emotional trauma and nightmares; as opportunities: the attendance of autopsies; and as threats: physical dangers. Conclusion. The current study was similar to international studies with regard to students' emotional response to attending autopsies. The autopsy remains a valuable teaching tool for undergraduate students. Emotional support is currently available for all students to assist them in overcoming their fear of attending forensic autopsy sessions

The prevalence of HIV in Pretoria's Medico-Legal Laboratory cases; RSA; in 2009

The purpose of this study was to determine the prevalence of Human Immunodeficiency Virus (HIV) amongst decedents admitted to the Pretoria Medico-Legal Laboratory (MLL). The study was designed as a cross sectional study. It is not standard procedure for the pathologist to do a HIV test at autopsy. Post mortem (PM) blood samples were obtained from all bodies admitted to the Pretoria MLL during one month in 2009. Analysis of the blood samples was performed using standardised laboratory procedures. Two hundred and thirty-eight PM blood samples were collected. In 43 cases (17); the test results were invalid. Of the 195 valid test samples; 51 (26.2) were HIV-positive. The prevalence of HIV in this study was 15 higher than that reported in a similar study done 10 years previously

The prevalence of HIV in Pretoria's Medico-Legal Laboratory cases; RSA; in 2009

The purpose of this study was to determine the prevalence of Human Immunodeficiency Virus (HIV) amongst decedents admitted to the Pretoria Medico-Legal Laboratory (MLL). The study was designed as a cross sectional study. It is not standard procedure for the pathologist to do a HIV test at autopsy. Post mortem (PM) blood samples were obtained from all bodies admitted to the Pretoria MLL during one month in 2009. Analysis of the blood samples was performed using standardised laboratory procedures. Two hundred and thirty-eight PM blood samples were collected. In 43 cases (17); the test results were invalid. Of the 195 valid test samples; 51 (26.2) were HIV-positive. The prevalence of HIV in this study was 15 higher than that reported in a similar study done 10 years previously

Subendocardial fibrosis in left ventricular hypertrabeculation-cause or consequence?

Left ventricular noncompaction has been classified as a primary cardiomyopathy with a genetic origin. This condition is morphologically characterized by a thickened, two-layered myocardium with numerous prominent trabeculations and deep, intertrabecular recesses. Recently, it has become clear that these pathological characteristics extend across a continuum with left ventricular hypertrabeculation at one end of the spectrum.The histological findings include areas of interstitial fibrosis.We present a case of left ventricular hypertrabeculation which presented as sudden infant death syndrome. Histologically areas of subendocardial fibrosis was prominent and we propose that this entity may be a hidden cause of arrhythmic death in some infants presenting as sudden infant death syndrome., with areas of subendocardial fibrosis as possible arrhythmogenic foci.

The medico-legal investigation of sudden, unexpected and/or unexplained infant deaths in South Africa: where are we--and where are we going?

Sudden Infant Death Syndrome (SIDS) has been reported to be the leading cause of death in infants under 1 year of age in many countries. Unfortunately, a paucity of published research data exists in South Africa, with regard to the incidence of and investigation into the circumstances surrounding Sudden Unexplained Deaths in Infants (SUDI) and/or SIDS. Currently, even though most academic centers conform to a protocol consistent with internationally accepted standards, there exists no nationally accepted infant death investigation protocol in South Africa. It is the aim of this study to review the current practice of infant death investigation in two representative but geographically and demographically distinct centers. Retrospective case audit over a five-year period (2000-2004) was conducted at two large medico-legal mortuaries in Pretoria (Gauteng) and Tygerberg (Cape Town). Case files on all infants younger than 1 year of age were reviewed. The outcome measures included number of deaths, demographic details and the nature and final outcome of the post mortem examinations. A total of 512 cases were identified as possible SIDS cases and of these, 171 was classified as SIDS. The study showed marked inter-case and inter-divisional variation in terms of the investigation of infant deaths at the two institutions. It is envisaged that this study will focus attention on the current lack of usable data regarding sudden/unexplained/unexpected infant deaths in South Africa, and aid in the formulation and implementation of a practical (yet internationally accountable) infant death investigation protocol, which could facilitate comparisons with other countries and initiate further structured research in this field.