Individuals who die suddenly and unexpectedly will often fall under the jurisdiction of a Medical Examiner or Coroner (MEC). Forensic pathologists may therefore be the first physicians to diagnose a genetic disease. Identifying these conditions at autopsy improves the accuracy of death certification and provides biological relatives the opportunity to seek diagnosis and intervention. Accessibility and diagnostic capabilities of postmortem genetic testing (PMGT) have rapidly expanded over the last decade since the previous National Association of Medical Examiners position paper on this topic. In this updated position paper, we review the different types of PMGT and the genetic conditions most likely to be encountered at forensic autopsy. Guidelines are also provided for the implementation of PMGT in an MEC office and for the reporting of results.

Background/Objectives: Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive lysosomal storage disorder caused by deficiencies in enzymes required for heparan sulfate degradation. While primarily recognized for its devastating neurodegenerative course, the systemic extent of glycosaminoglycan (GAG) accumulation remains under-characterized. This study aims to provide a detailed multisystemic pathological mapping of MPS III to challenge the traditional “brain-only” disease paradigm and highlight the clinical relevance of extracerebral involvement. Methods: We present a comprehensive clinicopathological analysis of a 15-year-old female patient with a history of profound neuropsychomotor delay, refractory epilepsy, and spastic tetraplegia. Following her death due to terminal bronchopneumonia during palliative care, a complete forensic and pathological autopsy was conducted. Tissue samples from all major organ systems were processed using routine Hematoxylin–Eosin (HE) staining, immunohistochemical staining for CD68, and specialized histochemical stains to identify intracellular storage products. Results: Macroscopic evaluation revealed significant diffuse cerebral atrophy, meningoencephalic edema, cardiac valvulopathy with compensatory myocardial remodeling, and hepatosplenomegaly. Furthermore, erosive gastrointestinal lesions and degenerative renal changes were identified. Histopathological examination confirmed widespread cytoplasmic vacuolization across diverse cell populations, including neurons, hepatocytes, renal tubular cells, and the reticuloendothelial system. These findings demonstrate that GAG deposition is a generalized process affecting nearly every parenchymal structure. Conclusions: Although neurological decline dominates the clinical phenotype, our findings underscore that MPS III is a true systemic storage disorder. Significant involvement of the cardiovascular and visceral systems contributes to the disease’s complexity and mortality. This case reinforces the critical diagnostic value of a comprehensive autopsy in delineating the full morphological spectrum of Sanfilippo syndrome, providing essential insights for multidisciplinary management.

Splenic artery aneurysm (SAA) rupture is a deceptive cause of sudden unexpected death presenting significant medicolegal challenges. This retrospective case series and comprehensive literature review analyzes the clinicopathological features of six nontraumatic fatal SAA ruptures. Clinical presentations were predominantly nonspecific, resulting in diagnostic delays and medicolegal inquiries in two cases. A size-rupture paradox was observed, as fatal hemorrhage occurred across a wide diameter spectrum (3-12 cm), proving that small aneurysms also carry lethal potential. The literature review elucidates the multifactorial etiopathogenesis of SAA, encompassing genetic, hormonal, hemodynamic, and inflammatory factors. Furthermore, the clinical trajectory of delayed fatality is explained by the double-rupture phenomenon, which creates a deceptive lucid interval. Histochemical evaluation utilizing Elastic Verhoeff-Van Gieson (EVG) staining was pivotal, demonstrating severe internal elastic lamina loss to confirm spontaneous degenerative rupture and exclude trauma. Consequently, meticulous celiac trunk dissection and routine EVG histochemistry must be integrated into forensic autopsy protocols evaluating unexplained hemoperitoneum to accurately determine the cause of death and address liability disputes.

Integrin-focal adhesion-cytoskeleton signaling axis variations and genetic susceptibility to SCD-CAD.

The aging of the global workforce has led to an increasing number of individuals remaining occupationally active at older ages. However, forensic autopsy-based data on workplace deaths in this population remain limited. This study aimed to evaluate the causes and manners of workplace-related deaths among individuals aged 65 years and older based on forensic autopsy findings. This retrospective study included individuals aged ≥65 years who died at the workplace and underwent forensic autopsy between 2020 and 2024. Demographic characteristics, manner and cause of death, comorbidities, autopsy findings, and toxicological results were analyzed. A total of 126 cases were evaluated. Natural deaths accounted for 67.5% (n = 85) of cases and were primarily attributed to cardiovascular diseases, most commonly ischemic heart disease and severe coronary atherosclerosis (60.3%, n = 76). Non-natural deaths comprised 32.5% (n = 41) and included both accidental and suicidal deaths. Accidental deaths were most frequently associated with blunt force trauma (19.8%, n = 25), while suicidal deaths were mainly related to hanging (4.8%, n = 6) and drug intoxication (4.0%, n = 5). Toxicological analyses were negative in the majority of cases (91.3%, n = 115), and no substances were identified as contributory to death. Workplace-related deaths among older workers reflect a combination of natural disease processes and external causes. Forensic autopsy provides essential information for accurate determination of cause and manner of death and for distinguishing accidental occupational fatalities from intentional self-harm.

Psychological impact of forensic autopsy work: a cross-sectional analytic study of post-traumatic stress symptoms among forensic personnel in National Capital Region (NCR) Delhi.

Evaluation of hanging deaths in childhood: An autopsy study.

Abstract Alzheimer disease (AD) neuropathologic change (ADNPC), Parkinson disease (PD) α-synuclein (α-Syn), and TAR DNA-binding protein 43 (TDP-43) pathology overlap in a continuum in fine particulate matter (PM2.5)-exposed Metropolitan Mexico City (MMC) children and young adult forensic autopsy brains. This report focuses on a forensic targeted immunohistochemistry protocol to assess ADNPC, α-Syn and TDP-43 in ≤40y subjects, and to define their relationship with cumulative PM2.5 (CPM) exposures. We proposed an early measurement of abnormal protein expression to evaluate neurodegenerative disease prevalence in exposed PM2.5 urban young populations. We studied 189 autopsies average age 26±10y, including 179 MMC ≤40y olds and 10 low pollution controls. Among MMC adults 18-40y, 11.3% exhibited ADNPC alone; 50% had ADNPC + PD, 32.0% had ADNPC + PD + TDP-43 and 6.7% had ADNPC + TDP-43 pathology. In 37 children (13.0±4.8y), 24.3% had ADNPC, 37.8% had ADNPC + PD, 32.4% had ADNPC + PD + TDP-43; 5.4% had ADNPC + TDP-43 pathology. The overlapping children’s neuropathology was documented under low CPM. We suggest that measurements of abnormal protein expression to evaluate neurodegenerative disease in young PM2.5-exposed young urban populations in US autopsies will define the prevalence and overlap of early neurodegenerative biological markers. This information guide preventive medicine, health services, environmental PM2.5 emission control and early neuroprotection from potentially preventable air pollution-associated neurodegenerative diseases.

Early myocardial calcification is an uncommon histopathological finding and is usually associated with chronic myocardial injury. Rapid intramyocyte microcalcification following global ischemia is rarely described. A 42-year-old previously healthy male suffered an out-of-hospital cardiac arrest while cycling. Following prolonged cardiopulmonary resuscitation and return of spontaneous circulation, he was admitted to ITU before being confirmed to have Hypoxic Ischemic Encephalopathy not compatible with life. Despite intensive supportive management for multiorgan failure patient was pronounced dead within 48h of admission. There was no family history of heart disease or sudden cardiac death. The comprehensive forensic autopsy examination revealed no significant traumatic injuries that could account for death. Specialized cardiac examination showed subendocardial haemorrhagic infarction over the left ventricle. Histological examination demonstrated extensive focal intramyocyte microcalcification affecting sub endocardium of both ventricles in the areas of infarction with absence of fibrosis or inflammation. This case highlights rapid dystrophic intramyocyte microcalcification as a rare histological manifestation of severe global myocardial ischemia following cardiac arrest and resuscitation. Autopsy pathologists should be aware that subendocardial infarction with or without intramyocyte microcalcification and HIE occur secondary to cardiac arrest in those admitted to ITU and it is essential to investigate the cause of the primary cardiac arrest.

Development of a deep learning-based tool for coronary artery stenosis evaluation in forensic autopsies using whole slide imaging.

There is limited research examining the relationship between blood alcohol concentration (BAC) and other risk factors among suicide deaths in Finland. Our study aimed to investigate the relationship of an elevated (more than zero) blood alcohol concentration with medical history, including sociodemographic characteristics and disease diagnoses. Data was collected from suicide deaths in Finland from 2016 to 2024 and verified by official cause-of-death investigations, which included forensic autopsy, toxicology results, and other key information from death certificates and national healthcare registries. A condition recorded in both the death certificate (autopsy) and healthcare register was considered as confirmed diagnosis. BAC, as expressed as a percentage, was grouped into three categories: nil (BAC = 0.000), low-to-medium (BAC = 0.010%-0.099%), and high (BAC = 0.100%-0.500%). Descriptive statistics, correlation, and stepwise logistic regression to estimate odds ratios (ORs) for BAC categories were undertaken. The number of suicide deaths from 2016 to 2024 in Finland was n = 6892, with 5183 men (75.2%) and 1709 women (24.8%). BAC reports were available for n = 6835. Independent factors associated with a low-to-medium or high BAC at death were alcohol use (ORs: 41.80-275.27), longer than 1 day since last healthcare visit (ORs: 1.54-2.53), previous suicide attempt(s) (ORs: 1.42-1.65), and female gender (only for high BAC, OR: 1.30). There were reduced odds for schizophrenia spectrum diagnosis (OR: 0.17), bipolar disorder (OR: 0.29), age groups 10-19 (ORs: 0.30-0.65), 80 and over (ORs: 0.15-0.39), and 70-79 years (only for high BAC, OR: 0.43). Our findings show that individuals with documented habitual alcohol use, female gender, previous suicide attempts, and less frequent healthcare visits had higher odds of intoxication at suicide. Meanwhile, being aged under 20, over 70, or diagnosed with schizophrenia or bipolar disorders reduced the odds. The results highlight the need for proactive healthcare engagement and integrated alcohol-use interventions in suicide prevention strategies.

Purpose: This study aimed to evaluate the data of foreign national cases who underwent forensic autopsy andapplied to Forensic Medicine Units in Denizli province in the light of political, geographical, and socioeconomicaspects, to contribute to domestic and foreign studies in this field, and to determine the preventable causes ofdeaths.Materials and methods: We retrospectively analyzed the medicolegal reports of foreign nationals who appliedto the Directorate of Forensic Medicine Council and Pamukkale University Department of Forensic Medicine andforeign nationals who were autopsied in the Pamukkale University.Results: It was observed that the number of autopsies performed on foreign nationals constituted 2.38% of allautopsies. The most common country of origin of foreign national death cases was Syria with 25.6%. Amongthe foreign national death cases, 29.1% (25) were tourists. The most common cause of death among foreigndeaths was natural origin (43%).In the case of foreign nationals, 316 reports were issued for 271 cases. The most common country of origin ofthe applicants was Iran with 33.2%. Of the applicants, 48.3% applied for reports on intentional injury.Conclusions: Strict pregnancy follow-up, improving living conditions, and providing counseling services tofamilies on child care, neglect, and education are among the measures that can be taken to reduce mortality inthe 0-10 age group.Considering that children are the future of society, it is of great importance that children who are dragged intocrime are supported at the earliest possible time.

Solving a cold case through scientific evidence.

Post-splenectomy gastric perforation- case report and literature review.

Lysosomal trafficking markers covering PSAP, PGRN, SORT1 and LRP1 in body liquids and cerebral tissue as auxiliary indicative tool of traumatic brain injury.

In Malaysia, aviation accidents fall under the jurisdiction of the Air Accident Investigation Bureau (AAIB) and are subject to statutory investigation. The primary aim of these investigations is to reconstruct crash events, determine root causes, and recommend safety improvements, including modifications to aircraft design, to enhance survivability and prevent future incidents. Aviation pathology plays a crucial role in this process by confirming victim identities, establishing causes of death, contributing to crash sequence reconstruction, and ensuring a comprehensive analysis of human factors. This review examines key aspects of aviation pathology, including injury mechanisms and patterns, the forensic autopsy approach for aviation fatalities, and the correlation between injury findings and crash dynamics. Understanding these elements is essential for improving aviation safety and refining investigative methodologies.

To estimate mortality, causes of death, and sudden unexpected death in epilepsy (SUDEP) in childhood onset epilepsy (COE). We identified a population-based cohort of 312 individuals with COE in Tampere University Hospital district with an inception date of December 31, 1992. We gathered death certificates and forensic autopsy records from the Finnish Institute for Health and Welfare and the National Archives of Finland, with follow-up ending in January 2018. Population mortality rates by age and sex were obtained from Statistics Finland for the study period to calculate standardized mortality rates (SMRs). Statistics Finland also provided yearly life expectancy estimates for calculating potential years of life lost (YLL). A total of 29 patients died during the follow-up, corresponding to a mortality of 3.9 (2.6-5.6) per 1000 person-years, with a median age at time of death of 22.6 years (IQR 19.4-27.0). We identified ten SUDEP cases (34.5 % of all deaths). All-cause SMR was 6.78 (4.54-9.73). Patients without disabilities had a non-significantly increased SMR (2.56, 0.94-5.58). Patients who were seizure-free for a year or more at baseline had a lower SMR than patients with continued seizures (2.94, 1.18-6.06 vs. 11.59, 7.27-17.55). Symptomatic etiology predicted increased mortality (12.82, 7.6-20.26), whereas genetic etiology was not associated with a significantly increased mortality (3.28, 0.89-8.39). COE was associated with increased mortality, with SUDEP accounting a third of all deaths. Seizure freedom at baseline and genetic etiology related to lower mortality than continued seizures or symptomatic etiology.

Sharp force injury-related deaths: a 20-year forensic autopsy study from Thailand

Human DNA is widely distributed in the environment and can be released into water through skin cells, sweat, and other biological materials. In forensic investigations involving drowning or suspected immersion events, bathwater represents an underexplored but potentially informative source of DNA evidence. This study evaluated the feasibility of recovering and analyzing human DNA from bathwater for short tandem repeat (STR) profiling. Bathwater samples were collected from 11 volunteers after 1, 2, 5, and 10 minutes of immersion, as well as from 12 forensic autopsy cases. DNA was concentrated using a filtration-based method and analyzed for DNA quantity, degradation, and STR profiling success. Both DNA yield and integrity generally increased with immersion duration, and most samples yielded complete STR profiles after 10 minutes. Considerable interindividual variation in DNA shedding was observed, and residual DNA from prior bath users frequently contributed to mixed profiles. Allele drop-ins were common in low-template or mixed samples but decreased as DNA quantity increased. STR profiles were successfully recovered from indoor samples (e.g., bathtubs), whereas no interpretable profiles were obtained in the limited number of outdoor cases examined in this study. These findings demonstrate that bathwater may serve as a useful supplementary source of human DNA in forensic investigations, particularly in indoor drowning cases. Although mixed profiles necessitate cautious interpretation, DNA recovered even after brief immersion may support victim identification or contribute to assessments of potential co-presence in conjunction with other evidence. Overall, this study suggests that bathwater represents a supplementary and context-dependent source of human DNA for forensic analysis in aquatic settings.

Exposure to environmental fine particulate matter (PM2.5), ultrafine PM (UFPM) and nanoparticles (NPs) are associated with accumulation of amyloid-β1–42 peptides, phosphorylated-Tau, alpha-synuclein and transactive response DNA binding-protein-43 misfolded aberrant proteins, consistent with the biological definitions of overlapping Alzheimer’s disease (AD), Parkinson’s disease (PD), frontotemporal lobar degeneration (FTLD), and amyotrophic lateral sclerosis (ALS) in 99% of ≤40-year-old Metropolitan Mexico City (MMC) forensic autopsies. Structural and volumetric brain responses in vivo are critical in young MMC residents. We performed volumetric and whole-brain correlation analyses in 75 healthy volunteers: 45 MMC 31.2 ± 14.7 y old and 30 low-pollution 31.8 ± 4.8 y old controls, matched by ethnicity, socioeconomic status, nutrition, and BMI. MMC residents exhibited fronto-parietal and temporal lobes, precentral gyrus, hippocampi, basal ganglia, thalamus, amygdala and cerebellar atrophy. The most common atrophy pattern was cortical first parietal and fronto-parietal lobes, combined with gray matter (GM) atrophy in cerebellar lobules IV and V left and right III, IV and V and VI.MMC participants had mild cognitive impairment (Montreal Cognitive Assessment Score 22.8 ± 3.2). GM atrophy involving right globus pallidus and pulvinar and cerebellar white matter (WM) bilaterally were associated with lower cognitive performance and high BMI to subiculum, posterior orbital gyrus and insula, inferior temporal gyrus, supplementary motor cortex, and cuneus WM atrophy. PM2.5 exposure and BMI appear to play key roles in early neurodegenerative disease biology and may contribute to adverse effects on academic and occupational performance, neuropsychiatric disorders, behavioral regulation, risk of substance use initiation, and psychopathy. Neuroradiologists across the world need to know cortical and subcortical, including extensive hippocampal, stratium and cerebellar atrophy identifies overlapping patterns of regional atrophy associated with MCI, AD, bvFTD, PD and ALS, in young urbanites. There is an urgent need for early pediatric neuroprevention interventions, non-invasive AD, PD and TDP-43 biomarkers, in-depth characterization of emission pollutants exposures and their effective control. Denial is no longer an option.