Theses and Dissertations (Forensic Medicine)

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Development of a cardiac channel molecular autopsy in a South African cohort of sudden unexplained deaths in the young
(University of Pretoria, 2023) Van Niekerk, Chantal; Du Toit-Prinsloo, Lorraine; u26376645@up.ac.za; Van Deventer, Barbara Stroh
Sudden cardiac death is deemed a major global public health concern. In sub-Saharan Africa, including South Africa, there is a lack of reliable statistics on the incidence of SCD, even though a fourfold increase in noncommunicable diseases, largely due to cardiovascular diseases, has been reported. Considering that sudden cardiac deaths contribute to an estimated 50% of all cardiovascular deaths, it highlights South Africa’s need for research into better detection, treatment and prevention of sudden cardiac deaths. The aim of this study was to identify an inherited cardiac arrhythmogenic disorder, caused by variants in cardiomyopathy and arrhythmia-related genes, as a possible contributing factor to the cause of sudden cardiac deaths. Next generation sequencing identified a total of 178 different missense variants among the entire study population (n = 66);164 were known, documented variants whereas the remaining 14 were novel. A total of 127 variants were of like benign significance, 33 were variants of unknown significance, whereas the remaining six variants were of likely pathogenic significance. Post mortem genetic testing provided evidence of a genetic arrhythmic/cardiac conduction disorder as the probable pathogenic basis for 9% of sudden unexpected death / sudden unexplained infant death cases. Targeted next generation sequencing of 16 prevalent genes are recommended for routine testing in all unexplained sudden unexpected death / sudden unexpected infant death cases in South Africa.
Data collection and management in medico-legal death investigation in South Africa : an exploratory study
(University of Pretoria, 2023) Saayman, Gert; Rossouw, Servaas; u17016224@tuks.co.za; Da Silva, Isabella
Mortality data are a cornerstone of public health initiatives and interventions and has been used to implement preventative strategies to reduce the burden of diseases and injuries in society. A subset of mortality data is non-natural mortality data, which can be used to reduce the burden of violence and injuries in a country. However, the benefits of such data cannot be fully utilised if there are not appropriate data collection, management, and dissemination protocols in place. South Africa is a country with a high level of violence and non-natural deaths; however, current sources of non-natural mortality data have received criticisms in scientific publication for not being accurate. Initiatives to address this problem, most notably the National Injury Mortality Surveillance System, have been undertaken since the 90’s, by making use of state mortuaries as a source of non-natural mortality data. While these initiatives were able to introduce a new era of epidemiological study in the country, they were not sustainable in the long-term. These initiatives collected and disseminated data from state mortuaries in South Africa, but they did not work to implement standardised data collection and management protocols or a database that could collect and store data from the various state mortuaries. In the United States of America, Australia, and New Zealand data collection and dissemination databases have been implemented, the National Vital Statistics System in the United States of America, and the National Coronial Information System in Australia and New Zealand. These initiatives show that it is possible to successfully implement a data collection and dissemination system for non-natural mortality data in countries that have varying medico-legal death investigation systems in different jurisdictions, and therefore that it should be possible to implement such a system in a country like South Africa where there is only one medico-legal death investigation system. The aim of this study was to establish what data elements are and should be collected as part of a medico-legal death investigation service in South Africa and how the data can be routinely and systematically captured and utilised to be of benefit to society. Specifically, this research focused on the current data elements as well as data flow, collection, and management at a single urban mortuary in South Africa. The study endeavoured to identify the data elements that are and could be collected for medico-legal death investigation in South Africa, assess the current storage, archiving, and management of data in medico-legal death investigation, identify the legal and ethical considerations pertaining to medico-legal death investigation, and to identify technical software that can be used to capture and manage medico-legal death investigation data. To determine this, a three-part study was undertaken, a scoping review of available literature relating to data collection, capture, and management in medico-legal death investigation, as well as any related fields such as informatics and public health, a retrospective descriptive analysis of data from a single urban mortuary in South Africa for a period from 2017 to 2019, generating a three-year profile of cases at a typical urban mortuary in South Africa, and a fieldwork component to outline the flow of data and identify the key elements and categories of data that are routinely collected for non-natural deaths in South Africa. Findings from this research showed that there is significant benefit in routinely collecting and disseminating non-natural death data from state mortuaries in South Africa. It also found that data collection and management practices from fields outside of medico-legal death investigation, specifically public health, can be adapted to suit the needs of medico-legal death investigation data. Significant findings from the retrospective review include the increasing proportion of suicides for the three-year period, as well as accidental deaths being the most common manner of death, road traffic fatalities being the most common external cause of death, and homicide numbers overtaking accidental deaths for the months of October to December. The fieldwork component of the study contextualised the current flow of data in medico-legal death investigation in South Africa and identified common data elements that are collected. This research found that commonly collected data elements for medico-legal death investigation are important for the generation of statistics related to non-natural deaths, but the lack of a routinised systematised data collection and management platform impacts the quality of data. Overall, the results of this research suggest that the implementation of routinised and systematised data collection practices within the field of medico-legal death investigation would benefit the quality of non-natural mortality data in South Africa, however, what data elements and who owns the data needs to be agreed on before implementation can go forward. While this study utilised a single urban mortuary as a pilot for the exploratory study, it is suggested that further study into the current data practices in other mortuaries be conducted, to identify problems and opportunities that may be unique to different areas. It also is recommended that further in-depth study is undertaken into the observations that the retrospective analysis found, and that accurate and relevant denominators for specific areas be utilised so that future studies can be used as epidemiologic information.
Assessing the carbamate decay kinetics in post-mortem intoxication cases with reference to matrix storage conditions
(University of Pretoria, 2021) Steenkamp, Vanessa; Cromarty, Allan Duncan; Saayman, Gert; Leuschner, Machel; u15263632@tuks.co.za; Radebe, E.D.B.
Pesticide poisoning is a global health concern with approximately three million cases being reported on an annual basis. The latter includes both intentional and unintentional poisonings. Organophosphorus and carbamate insecticides are frequently found to be ‘responsible’ for pesticide poisoning in developing countries. In South Africa, aldicarb is the most potent carbamate pesticide and is sold in the informal markets as Temik. It is colloquially known as “Two step” or “Galephirimi” resulting in numerous cases of acute poisoning, especially in urban areas. Underreporting of suspected or confirmed pesticide poisoning cases has been a problem encountered in the national notification systems. Although a number of carbamate poisonings have been identified at the Pretoria Medico-Legal Laboratory, the presence of carbamates in post-mortem samples is rarely confirmed analytically. This may be ascribed to insufficient sample preparation, analytical methods not being sensitive enough or storage conditions not being optimal or too long before analysis takes place. It is well documented that most analytical errors occur during the pre-analytical phase, leading to a high prevalence of inconclusive results being attained. This may possibly be due to pre-analytical degradation, binding to biological matrix or the analytical method not been sensitive enough for detection in collected samples. Post-mortem redistribution factors such as physicochemical properties of the xenobiotic compounds (pH, volume of distribution, protein binding affinity, bacterial biotransformation and lipophilicity), characteristics of the matrix, specimen collection procedure and the use of preservatives may also influence the carbamate stability. The primary aim of the study was to optimise the sample preparation and analysis of biological matrices for select carbamates using LC-MS/MS method. Additionally, to analyse pesticide samples sold by street vendors as well as post-mortem samples collected from suspected cases of carbamate intoxication to determine whether the developed method can detect carbamates in real samples. Assessment of the aldicarb decay kinetics was done by spiking biological samples (whole blood, plasma, urine) collected from consenting healthy volunteers. Post-mortem samples (blood, urine, stomach content) of suspected carbamate poisoning cases, were screened for possible carbamate compounds and their metabolites or breakdown products. Optimisation and validation of the method was performed using a high-performance liquid chromatography (HPLC) system coupled to a triple quadrupole mass spectrometer following different extraction methods. The system was operated in positive electrospray ionisation (ESI+) mode. Different columns, mobile phase buffers and cartridges were used to compare the chromatographic separation of the carbamate compounds. Validation according to ICH guidelines was done for aldicarb. A set of matrix-matched standard calibration curves, was constructed using Analyst (version 1.5.2) software. Initial sample preparation of carbamate pesticides using three different SPE cartridges proved to be unreproducible with poor recoveries of specific compounds due to the wide range of carbamate pesticide polarities, so this was abandoned for the stability testing and forensic samples tested. About 85% reduction of the concentration of aldicarb was seen in whole blood only at ambient temperature but was stable at lower temperatures. Stability proved to be better in plasma compared to whole blood, for aldicarb and its oxidation products. Aldicarb was stable in urine stored with boric acid preservative. The ideal storage temperature for biological samples containing these carbamate compounds was found to be -80°C. During analysis of forensic samples, unknown peaks were consistently detected which are believed to correspond to adulterants and diluents which are added to “backstreet” pesticides. A possible match of an organophosphate, terbufos, found in some “backstreet” pesticide products was detected in some of the post-mortem samples. Considering their different physicochemical properties and that several factors can influence the biodegradation of carbamate compounds, no extrapolation of results from one carbamate compound to another can be formulated. The development and validation of an analytical method to quantify aldicarb and its oxidation products (aldicarb sulfoxide and sulfone) in whole blood, plasma and urine, using the protein precipitation method and LC-MS/MS was successful. Method validation to quantify ten standard carbamate pesticides using SPE and UPLC-q-TOF/MS was unsuccessful. The LC-MS/MS technique was found to be a suitable tool for the quantitation of aldicarb and its oxidation products in typical post-mortem sample matrices.
Assessing the functionality and value of introducing Death Investigators into forensic pathology service in South Africa
(University of Pretoria, 2020) Saayman, Gert; keerligh@gmail.com; De Villiers, Katherine
In modern society the medico-legal investigation of death is a prerequisite for the administration of justice and for the betterment of public health. These investigations require a high level of skill, professionalism and ethics and have far reaching effects. South Africa’s high level of unnatural deaths, combined with limited human and fiscal resources, specifically a scarcity in practicing Forensic Medical Practitioners, a lack of adequate training of Forensic Officers and members of the South African Police Service, discrepancies in available statistics and a lack of accreditation and quality control, to name a few, leave the South African medico-legal system overburdened. Death investigation needs to evolve and improve constantly and improvements in death investigation need to occur across a wide spectrum of parameters. In the United States of America, to combat systemic issues such as those experienced in South Africa, Death Investigators have been introduced in a supportive capacity and as an extension of services rendered by Forensic Medical Practitioners. These investigators, who are not medical practitioners but may have some level of training or vocational experience within the medical or investigative field, attend and help to analyse death scenes, collect relevant ante-mortem data, assist during autopsies, expedite special investigations, liaise with other stakeholders and provide testimony if warranted. Multiple benefits are associated with the introduction of these death investigators, with the collection of relevant (pre-autopsy) information which will assist and direct the Forensic Medical Practitioner probably being the most pertinent in the context of this research. The aim of this study was to assess the functionality and value of introducing such Death Investigators into forensic pathology service in South Africa. Specifically, this research focused on the nature and scope of information currently being provided to Forensic Medical Practitioners prior to conducting an autopsy and assessed whether the introduction of these investigators would improve the quality of pre-autopsy information. To determine this, participating Forensic Medical Practitioners were asked to evaluate the quality of information currently provided to them prior to conducting an autopsy and to evaluate the quality of information contained in a Death Investigator worksheet that was completed hypothetically for the same case, as an example of the type of information that would be collected by a Death Investigator. Additionally, the disposition of Forensic Medical Practitioners and external stakeholders to the proposed introduction of Death Investigators was assessed through a questionnaire process. Findings of this research showed that there is a significant deficit in the quality of pre-autopsy information being provided to Forensic Medical Practitioners at present. The current pre-autopsy information received an average information quality score of 21.4%. However, the Death Investigator worksheets received and average information quality score of 84.9% representing a marked improvement. Forensic Medical Practitioners had a favourable disposition to the proposed introduction of Death Investigators and agreed that Death Investigators would provide an improved knowledge and understanding of the circumstances and setting of the death, which in turn would , enhance their ability to strategise a post-mortem approach, to request appropriate special investigations and to better interpret their autopsy findings. Overall, the results of this research suggest that the introduction of Death Investigators would add value, specifically by improving the gathering of appropriate information and would be welcomed by Forensic Medical Practitioners. While this research was conducted in Pretoria, it was done on the premise that the poor-quality pre-autopsy information experienced in Pretoria, is probably, to a greater or lesser extent experienced in other medico-legal laboratories in South Africa. It is recommended, that a multi-centre audit of pre-autopsy information quality is undertaken to verify the results found at the Pretoria Medico-legal Laboratory. Furthermore, to facilitate the introduction of Death Investigators as a new professional category, it is recommended that a working group be convened to further interrogate the added-value potential of this introduction as well as to determine prerequisite educational requirements and acceptable recognised prior learning, and to develop guidelines and scope of practice documents. It is also recommended that should this introduction come to fruition, provision be made to accommodate such Death Investigators on a professional board affiliated with the Health Professions Council of South Africa, to guide training and qualification requirements, advise on best practice and professional standards against which Death Investigators can be held accountable.
The application of imaging technologies in the detection of trace evidence in forensic medical investigation
(University of Pretoria, 2014) Saayman, Gert; Du Toit-Prinsloo, Lorraine; Cocks, Jeannie Eileen Yana
LocardÕs Exchange Principle necessitates that the bodies of victims of crime be treated as secondary crime scenes. Imaging technologies should be implemented with a view towards discovering trace evidence that may aid subsequent investigations. In a country notorious for violent crime, it seems that South African medico-legal laboratories make minimal application of technology in the death investigation process and little attention is given to trace evidence. Non-destructive, non-invasive, portable and cost-effective tools are required. A torch, magnifying lamp, portable digital microscope and alternate light source were tested to gauge their potential for trace evidence detection on the bodies of victims of fatal interpersonal violence. Most studies apply these and similar tools to inert surfaces, with few focussing on their application to human skin. The most common evidence types discovered on the bodies and clothing of victims of fatal interpersonal violence, as well as the propensity of each tool to detect these, was evaluated in order to devise the best option for incorporation into the Pretoria Medico-Legal Laboratory routine. The study aimed to justify the investment of slightly more time, effort and funding into trace evidence recovery in the South African mortuary environment. It was also hoped that the application of these tools could be extended to the clinical forensic setting.
HIV in South African forensic medical practice
(University of Pretoria, 2012-08-14) Du Toit-Prinsloo, Lorraine; Webber, Lynne M.; upetd@up.ac.za; Morris, Neil Kenneth
HIV has become a focal point for South Africa and many other parts of the world. This is owing to the dire implications the disease holds for the human race. Accurate research needs to be done in order to determine the effectiveness of current prevention, treatment and funding strategies so that future strategies can be implemented with greater success. All organisations, whether governmental or non-governmental, need to be aligned in their strategies and campaigns in order to be maximally effective. In the South African forensic setting, it is not routine to test a decedent for their HIV status unless a needle stick injury or occupational mishap occurs. This means there is very little information on the current prevalence of HIV in the other than natural death population of South Africa. In order to address the lack of information three main areas of research have been identified as the most urgent to obtain reliable information on. The first was a study done to document the HIV prevalence in the general Pretoria MLL population for a month. All cases admitted to the Pretoria MLL were tested for their HIV status and this was documented and analysed. The second study population was the suicide population in the Pretoria MLL. It is hypothesised that the suicide populations HIV prevalence would be higher than the general population’s prevalence rate. The third study shed light on the sub population of Sudden Unexplained and Unexpected Deaths (SUU-Death) that are admitted to the Pretoria MLL. The results of all three studies determined that the prevalence of HIV in the Pretoria MLL is higher than the current statistics for South Africa. South African forensic medical practice has the context and potential to provide large amounts of accurate information regarding the HIV pandemic in South Africa.
The medico-legal investigation of unexplained deaths in Pretoria, South Africa : the role of death investigators as a new professional subgroup
(University of Pretoria, 2011) Saayman, Gert; zimwol@gmail.com; Oliever, Lorraine Anneline
In 2009, the South African population was estimated at 49.32 million. The Department of Home Affairs had 612 462 registered deaths in 2006, with approximately 122 492 of these being due to other than natural causes. It is estimated that this number may have remained fairly constant or increased slightly over the past few years. During 2009 and 2010 there were only 35 practising forensic pathologists in South Africa. Furthermore , according to the South African Police Service, over 2 million serious crimes were reported over the 2008-2009 period, whilst there were approximately 153 981 police officers in service. When it is considered that these cases fall within the realm of the forensic pathologists, it should be of great concern that so few qualified specialists exist within the country. South Africa not only has a high occurrence of deaths amongst young adults which can be attributed to trauma and other non-natural causes as well as HIV/AIDS, but urbanisation, an influx of foreigners and an increase in unemployment may also have an influence on the mortality rate of young, working age adults. However, there appears to be a discrepancy in mortality statistics between data released by Statistics South Africa, and the National Population Registry which is maintained by the Department of Home Affairs. This study was undertaken in order to bring about the realisation that professionals are needed in order to bridge a gap in the medico-legal investigation of deaths in South Africa. Approximately half of the cases of sudden unexpected deaths that were reviewed over the fifteen months from January 2009 until March 2010 were due to natural causes, with approximately 37% being signed out as under investigation. In approximately 50% of the cases reviewed, the forensic pathologist was contacted to attend the scene of death, with only half of these scenes being attended by the forensic pathologist on call. Attendance of the post-mortem by the Investigating Officer in charge of the case was poor, with approximately 80% of the post mortem examinations being conducted without the Investigating Officer present. It is believed that medico-legal death investigators would greatly improve the investigation of sudden deaths in South Africa. The institution of medico-legal death investigators would minimise the case load of all the role players, as well as reducing the confusion related with the medico-legal significance of deaths. It is also believed that medico-legal death investigators would minimise and eventually eliminate the gap that currently exists between the departments that are involved with the investigation of deaths. It would thus be advantageous for medico-legal death investigators to fall under the jurisdiction of both the Department of Health and the South African Police Service.
The medico-legal investigation of death in custody - a review of cases admitted to the Pretoria Medico-Legal Laboratory, 2007-2011
(University of Pretoria, 2013-04-18) Du Toit-Prinsloo, Lorraine; Barit, Shimon
The universally controversial issue of deaths in custody is especially pertinent to South Africa. This study was prompted due to the increasingly diminishing ability for a concerted effort at tackling this issue by all parties involved. The 5 year retrospective, descriptive case audit performed at the Pretoria Medico-Legal Laboratory aimed to evaluate the current medico-legal investigation of deaths in custody in Pretoria, South Africa. Over half of the deaths (52%) occurred as a result of police action, 30% in police custody and 18% in correctional services custody. Gunshot wounds and hangings were the number 1 and 2 most common causes of death, respectively, with homicide and suicide being the 2 most common manners of death, respectively. The principal conclusion from the results is the presence of a flawed and malfunctioning medico-legal investigation system. The introduction of a formal protocol is urgently required to provide a framework for these investigations.
Unidentified bodies in forensic pathology practice in South Africa : demographic and medico-legal perspectives
(University of Pretoria, 2011) Rossouw, S.H.; cindy.evert@gauteng.gov.za; Evert, Lucinda
Unidentified bodies in the forensic setting constitute a global problem. Though this should be of great concern to many governments, very little data on the extent of this phenomenon is available in international literature and few countries require that statistics on the number of unidentified deceased be kept. To determine the extent of this phenomenon in South Africa, a study into the number of unidentified deceased at the Pretoria Medico-Legal Laboratory and their demographic profile was undertaken. The study has indicated that between 7% and 10% of bodies remain unidentified at the Medico-Legal Laboratory in Pretoria. Publications further indicate that a total of 846 bodies remained unidentified at Medico-Legal Laboratories in Gauteng for the period January 2010 to August 2010. This number is very high when compared to international literature. Of great concern is the fact that these statistics do not include the cases in which persons die in hospital facilities from natural causes without an identity, which are not referred to the Forensic Pathology Service for investigation. The true extent of the problem may thus be far greater than imagined. Determining the true extent of this phenomenon in South Africa is therefore important, as these unidentified bodies have many social and economic consequences. Not only are families unaware that their loved ones have passed away, but they are also unable to bury and mourn them. Unidentified bodies at Medico-Legal Laboratory facilities also impacts on the service delivery capability of the government departments involved in the investigation of such cases. The drafting of additional legislation for the management of unidentified bodies is therefore required. A need to establish and enforce specific protocols to be followed in the event of unidentified bodies has also been identified. The creation of a National Unidentified Decedent website and DNA database is recommended as they will greatly assist in reducing the number of unidentified bodies throughout South Africa. It is however only through coordinated efforts and interdepartmental cooperation that these proposals will be successful. AFRIKAANS : Ongeïdentifiseerde liggame in die forensiese omgewing is ‘n wêreldwye probleem. Alhoewel dit ‘n bron van kommer vir meeste regerings behoort te wees, is baie min data oor die omvang van hierdie verskynsel beskikbaar in die internationale literatuur, met min lande wat vereis dat amptelike statistieke oor onbekende oorledenes versamel word. Om die omvang van hierdie verskynsel in Suid Afrika te bepaal, is ‘n studie na die aantal onbekende liggame by die Regsgeneeskundige Laboratorium in Pretoria en hul demografies profiel onderneem . Die studie het getoon dat tussen 7% en 10% van alle liggame wat deur die Regsgeneeskundige Laboratorium in Pretoria opgeneem word, onuitgeken bly. Publikasies dui ook aan dat 846 liggame ongeïdentifiseerd was by Regsgeneeskundige Laboratoriums vir die tydperk Januarie 2010 to Augustus 2010. Hierdie getal is aansienlik hoër as díe wat in die internasionale literatuur gesien word. ‘n Groot bron van kommer is die feit dat hierdie statistieke nie gevalle insluit waar die oorledene in ‘n hospitaal gesterf het as gevolg van natuurlike oorsake, sonder dat hul identiteit bekend is. Die ware omvang van die problem kan dus veel groter as geskat wees. Die bepaling van die omvang van hierdie verskynsel in Suid Afrika is belangrik, omdat ongeïdentifiseerde liggame beide sosiale en ekonomiese gevolge het. Nie net is families onbewus daarvan dat hul geliefdes gesterf het nie, maar kry hul ook nie die geleentheid om hul geliefdes te begrawe en oor hul afsterwe te rou nie. Ongeïdentifiseerde liggame by Regsgeneeskundige Laboratoriums het ook ‘n invloed op die diensleweringskapasiteit van die verskeie staatsdepartemente wat betrokke is by die ondersoek van sulke gevalle. Die opstel van addisionele wetgewing wat die bestuur van ongeïdentifiseerde liggame reguleer is dus nodig. Die behoefte aan spesifieke protokolle vir die hantering van sulke gevalle is ook geïdentifiseer. Daar word verder aangeraai dat ‘n Nasionale Onuitgekende Liggaam webwerf en DNS databasis geskep word in ‘n poging om die aantal ongeïdentifiseerde liggame in Suid Afrika te verminder. Dit is egter slegs deur middel van gekoördineerde pogings en interdepartmentele samewerking wat hierdie voorstelle sukses sal behaal. Copyright
Detection and significance of blood in firearms used in contact gunshot wounds
(University of Pretoria, 2006-05-18) Saayman, Gert; upetd@up.ac.za; Visser, Jo-Mari
Firearm fatalities in South Africa are responsible for a very large number of fatalities. For purposes of judicial administration, determination of manner of death, in particular, differentiating between homicidal, accidental and suicidal death, is one of the primary objectives in fatal shooting investigations. Determining the muzzle-target distance can assist in establishing the manner of death, since contact gunshot wounds are seldom seen in cases of homicidal or accidental death. It has been reported that muzzle-target distance can be confirmed by detection of blood back spatter on the inner and outer surfaces of the weapons. To determine whether this phenomenon was being used to assist the forensiometric analysis of fatalities, a study was undertaken whereby weapons used to inflict fatal contact gunshot wounds in victims presenting at the Pretoria MLL, were requested for biological analysis during the period June 2002 to June 2003. Of the 123 cases identified, only 30 firearms were delivered to the FSL for analysis. Blood was found on the inside of barrels in 70% of cases, and the outer surface in 40%. These figures do not correlate well with international studies. The very low retrieval rate of weapons for analysis precludes the use of an important forensiometric tool in medico-legal investigation of firearm related fatalities in Pretoria. The urgent need to develop adequate protocols with respect to police handling of weapons is hereby confirmed.

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