Browsing by Author "Heathfield, Laura Jane"

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    A retrospective investigation of sudden unexpected death in the young investigated at Salt River Mortuary, Cape Town
    (2020) Vandayar, Yuvika; Heathfield, Laura Jane
    Sudden unexpected death in the young (SUDY) is the tragic fatality of seemingly healthy individuals aged between one and 40 years. Little is known about the demographics and risk factors of these cases at Salt River Mortuary (SRM), Cape Town. Therefore, this project aimed to retrospectively investigate the burden and profile of SUDY cases admitted to SRM, between 1 January 2016 and 31 December 2018. Of the total 11 588 cases admitted over this period, 833 (7.2 %) were SUDY cases, wherein males comprised the majority (64.3 %). Individuals were a median age of 31 ± 10.3 years at death, and the main location of death was ‘residential' (43.5 %). There were also significantly more males than females in the age category of 31 - 40 years who were found outdoors compared to all other locations (p < 0.001). Risk factors included physical activity, substance abuse, and co-morbidities with concomitant use of chronic medication. More than a third of individuals experienced breathlessness prior to death (45.0 %). Of cases with a confirmed natural cause of death, the main organ systems involved were pulmonary, cardiovascular, central nervous system and gastrointestinal, which parallels international trends. Akin to local studies, in analogous amounts, TB and pneumonia were the leading causes of death. Additionally, 21.1 % of cases were identified as candidates for genetic testing which may resolve undetermined cases or elucidate underlying predisposing factors to sudden death. Fortunately, 81.8 % had biological samples available for these retrospective analyses. Cases often had missing documentation which advocates for training to ensure compliance to standardised procedures. This study shows that males aged 31 ± 10.3 years with pulmonary and cardiac-related co-morbidities are the most vulnerable for SUDY whilst sleeping. Awareness interventions targeted at this population are thus needed in an attempt to reduce these tragic fatalities.
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    Identification of the deceased: A retrospective review of forensic anthropology Cape Town casework
    (2020) Baliso, Athi; Gibbon, Victoria Elaine; Heathfield, Laura Jane
    A serious issue faced in South Africa is the identification of unknown persons, particularly those who are decomposed, skeletonised or burnt. In this regard, Forensic Anthropology Cape Town (FACT), a service provider at the University of Cape Town (UCT), has assisted with identification. Data pertaining to anthropologically analysed cases in the Western Cape (WC) province is lacking and little is known about the contribution FACT has made to local forensic investigations. Thus, this study sought to identify the profile of FACT cases and evaluate their impact on police case resolution and identification. Cases referred to FACT between 2006 – 2018 from Forensic Pathology Services (FPS) were retrospectively reviewed (n = 208). Univariate, bivariate and multivariate statistical analyses were performed to find patterns in the data. Of these, 172 were of forensic relevance. There was a predominance of men (67%), and adults older than 35 years (54%). Regarding ancestry, 37% of decedents were of Mixed ancestry, 22% were of African ancestry and 3% were of European ancestry. Ante- and perimortem injuries were observed in 41% and 29% of decedents, respectively. Most decedents (51%) were discovered in high crime police precincts; however, a significant number were also found in low crime sparsely populated areas (47%), popular for recreational activities. These findings highlighted common areas for the discovery of decomposed bodies that may guide future forensic taphonomic research to better understand local decomposition rates. Positive identifications were reached for 37% of decedents, and of these, anthropological estimations were correct in 98% cases for sex, 84% for age-at-death, 80% for ancestry and 100% for stature. Communication issues between relevant stakeholders, the discretion of the authorities (when FACT would be consulted) and the availability of FACT members or resources (e.g., transport for the body to FACT laboratory) were among the main factors impacting FACT consultations and analysis; indicating that the legislation of forensic anthropology in South Africa is needed. Nevertheless, where identifications were subsequently made, the demographic estimations showed a high level of accuracy, suggesting that the anthropological techniques employed by FACT perform well in local forensic casework and FACT is assisting with social and criminal justice.
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    Retrospective analysis of the utilisation of DNA analyses in the identification of human remains at Salt River Mortuary (Cape Town, South Africa)
    (2024) Kambowo, Sophy Celine; Heathfield, Laura Jane; Reid, Kate
    Post-mortem human identification is crucial for medico-legal investigations and for social justice. Unfortunately, many people remain unidentified, particularly in developing countries. The use of forensic DNA profiling is a reliable method for human identification and was legislated in South Africa in January 2015. However, the use and success of DNA as an identification tool at Salt River Mortuary (SRM) in South Africa are unknown. Medico-legal case files were reviewed from all 3696 cases admitted in 2015, to evaluate the use of DNA in identifying human remains at SRM immediately after the implementation of the ‘DNA Act'. While 213 (5.76 %) cases were admitted in 2015 without an alleged identity, 221 individuals had no confirmed identity following post-mortem and identification attempts. DNA samples (for identification and/or investigative purposes) were taken in a total of 490 cases, yet concerningly, these samples represented many people with a confirmed identity, and not all individuals without an (alleged) identity. Of the 221 unidentified human remains, only 62 (28 %) were afforded DNA analysis, suggesting an underutilisation of DNA analysis requests. This observation highlights a potential missed opportunity to leverage DNA technology more comprehensively in cases where conventional identification methods prove insufficient. Further, DNA results were only obtained for 64 cases (13.06 %) with results from 426 cases still outstanding seven years later. Where reports were available, identification via familial matching was successful in 95.31 % of cases (n = 61/64), leading to a success rate of 12.45 % (n = 61/490) for DNA as an identification tool. This poor success rate in 2015 could be attributed to several factors including: inadequate sampling post-mortem possibly due to unclear guidelines about which state authority was responsible for sampling, the low chances of a match on the National Forensic DNA Database due to its infancy (and thus containing few reference DNA profiles), next-of-kin not providing reference samples due to lack of awareness or fear of authorities, or inadequate infrastructure or access to resources. This study highlights the need for intentional and consistent sampling of unidentified human remains and calls for larger efforts to encourage next-of-kin to provide reference samples to increase the chances of identification.
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    Sudden unexpected death in infants: a forensic genetic investigation in a South African cohort
    (2019) Heathfield, Laura Jane; Ramesar, R; Martin, L J
    Sudden unexpected death in infants (SUDI) is a devastating event, and unfortunately occurs frequently in South Africa. The emerging molecular autopsy has added value to SUDI investigations by revealing genetic variants which contributed to their demise. Motivated by the value of this concept to family members as well as the limited research of SUDI locally, the aim of this study was to explore molecular autopsies in the medico-legal investigation of SUDI cases in South Africa. A 5-year retrospective study of 1.199 SUDI admissions to Salt River Mortuary, Cape Town showed that 110 (9.%) cases were still under investigation, while most had infectious causes of death. An ethical framework was established and used to prospectively recruit 201 SUDI cases from Salt River Mortuary. A pilot quality assessment of DNA from blood, buccal cells and formalin fixed paraffin embedded tissue motivated the prospective collection of blood samples. Three variants previously associated with the risk of infections (IL-6 rs1800795.G>C; TNF-α rs1800629.G>A; TLR4 rs4986790.A>G) were genotyped in the sampled cohort. The allele frequency data generated suggested a possible association between each of these variants and an infection-related cause of death in SUDI. Targeted genotyping of candidate variants revealed several pathogenic mutations, including a twin who was homozygous T/T for a founder mutation, GALT rs111033690.C>G/T, causative of galactosaemia (previously undiagnosed). Follow up with the family revealed that the other twin had subsequently demised. Additionally, 43 genes previously associated with cardiac arrhythmias, were sequenced in a subset of cases (n.=.19) and parental samples. Putative pathogenic variants were identified in four infants, and four additional novel variants were found. Lastly, using a hypothesis-free approach, clinical exome sequencing was performed on two cases, which suggested one infant was immune-compromised and the second may have had bronchopulmonary dysplasia. The findings in this study highlight possible new candidate variants to assess in SUDI cases, and has directly contributed to the development of a molecular autopsy which is locally relevant. It is evident that until newborn screening becomes routine and accessible in South Africa, molecular autopsies should include testing for inherited metabolic disorders, as it holds potential to save lives.