Loeys-Dietz syndrome (LDS) is a heritable connective tissue disorder caused by pathogenic variants in genes involved in transforming growth factor-β signaling. It can present in childhood with fatal aortic dissection or rupture. We describe a medicolegal autopsy case of a 12-year-old boy who collapsed shortly after complaining of jaw pain and died despite resuscitation. Non-contrast postmortem computed tomography showed high-attenuation pericardial fluid, consistent with hemopericardium. At autopsy, 621 g of dark-red blood clot was present in the pericardial cavity, and the ascending aorta showed a longitudinal rupture with distal subadventitial hematoma. Pectus excavatum, bifid uvula, and tortuosity of the basilar and vertebral arteries were identified. Histological examination of the ascending aorta showed medial disruption, decreased smooth muscle cell nuclear density, focal mucoid extracellular matrix accumulation, and fragmentation, loss, and disorganization of elastic fibers. These findings prompted postmortem genetic testing. Whole-exome sequencing of blood-derived DNA identified a heterozygous pathogenic TGFBR1 variant, NM_004612.4:c.1460G>A (p.Arg487Gln), which was confirmed by Sanger sequencing. Targeted analysis of both parents did not detect the variant, supporting an apparently de novo event. Death was attributed to acute cardiac tamponade from ruptured ascending aortic dissection associated with TGFBR1-related LDS. The case emphasizes the practical value of correlating autopsy morphology with postmortem genetic testing in young sudden deaths due to aortic catastrophe.
BACKGROUND/INTRODUCTION:Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy that remains underdiagnosed and may be overlooked in sudden-death investigations. We reviewed the contribution of autopsy and post-mortem methods to recognizing CA and clarifying fatal mechanisms. METHODS:We searched PubMed/MEDLINE from database inception through 10 July 2026 using a predefined Boolean query and supplementary reference-list screening. Nineteen eligible reports were included and narratively synthesized across epidemiology, terminal mechanisms, and post-mortem diagnostic techniques. RESULTS:Autopsy studies documented frequent ante-mortem underdiagnosis: prevalence reached 21% in unselected elderly populations, and 91.3% of cases in a cohort of 1972 autopsies had been missed during life. Sudden death was especially relevant in AL amyloidosis and commonly involved pulseless electrical activity (PEA), bradyarrhythmias, or conduction disease. In the EXCALIBUR study of 110 newly diagnosed patients, bradyarrhythmias requiring pacemaker implantation occurred in 17.3% and new-onset atrial fibrillation in 28.2%; terminal rhythms were predominantly PEA. A previously reported illustrative autopsy case of systemic AL kappa amyloidosis showed how multisystem symptoms, low-voltage ECG, renal dysfunction, and a monoclonal kappa component may remain clinically unintegrated. CONCLUSIONS:Targeted autopsy, mapped histological sampling, Congo red staining, and reliable amyloid typing can identify otherwise unrecognized CA, improve cause-of-death attribution, and resolve medicolegal uncertainty. Correlating ante-mortem warning signs with post-mortem findings may reduce diagnostic misclassification.
A stray bullet is a projectile that, after being fired, strikes an unintended object, such as a bystander. Accident of this kind can occur due to several reasons, such as crossfire, celebratory gunfire and sports shooting related incidents. Even though the forensic importance of such events is great, they may also present diagnostic challenges to forensic practitioners. In case of an incident involving a potential stray bullet, distinguishing between homicide and accident is important. Estimating the shooting distance can be an important part of the process as stray bullets may be lethal even from very long distances. Verifying or disproving claims regarding shooting distance may thus be among the main interests for forensic practitioners in potential stray bullet cases. In this study, we investigated whether a stray bullet strike from half a kilometer away could be distinguished from more typical shooting distances on the basis of terminal ballistic performance. To conduct our study, we utilized ballistic gelatine blocks as a soft tissue simulant. Test shooting accounted for impact velocities corresponding to 100 m and 500 m shooting distances. Two expanding monolithic bullets were used in 0.30 caliber (n = 4). After the experiment, the gelatine blocks underwent computed tomography (CT). The CT scans were analyzed using an open-source software to provide a visual 3D reconstruction of the gelatine cavitation and obtain cavitation parameters (total volume and surface area of cavitation; maximum crack diameter; location of maximum cavitation). The results of our experiments indicated that the bullets had distinct terminal ballistic performance depending on the impact velocity. Bullets simulating the impact velocity of 500 m shooting distance produced lower gelatine cavitation volume, surface area, and maximum crack diameter than the ones simulating 100 m shooting distance. Through comparative analyses performed on a case-by-case basis, CT scans may help forensic practitioners estimate the probability of a stray bullet scenario.
Motorboat propeller injuries are a rare, but highly fatal type of trauma. In this paper, a case of fatal motorboat propeller injuries is reported. The autopsy findings, including the retrieval of pieces of foreign material in the fractured skull compatible with the propellers of a seized vessel, supported the hypothesis of hemorrhagic shock resulting from severe injuries (both visceral and non-visceral) as the cause of death and a three-dimensional reconstruction and comparison between the body of the victim and the seized vessel showed a high grade of compatibility.A scientific literature review was carried out to analyse the most common features of motorboat propeller injuries to identify the presence of distinctive features which could help in cases of complex interpretation, reduced evidence or absence of eye-witnesses.A total of 5 articles reporting 10 fatal cases have been included in the review, showing that propeller injuries produce high-energy polytrauma with a mixed sharp–blunt mechanism and highlighting the distinctive feature of parallel wounds which can correlate to the distance between the propellers.
Autoerotic death, an accidental fatality that occurs during self-stimulatory behavior intended to enhance sexual arousal, poses a diagnostic challenge in distinguishing it from suicide and homicide. Most cases involve neck compression or asphyxial mechanisms, typically through the use of ligatures or suffocation devices. However, reports describing the use of medical devices in an autoerotic context remain limited. We report the case of a man in his 30s who died in his residence after a sphygmomanometer cuff was applied around his neck. He was partially unclothed, and no signs of struggle or third-party involvement were identified. Multiple video recordings stored on a tablet documented repetitive behavior in which the cuff was inflated around the neck during genital stimulation. Autopsy revealed congestion of the head and face, conjunctival and mucosal petechiae, and scattered intramuscular hemorrhagic foci in the tongue, without fractures of the hyoid bone or thyroid cartilage. These findings were compatible with compression produced by an inflatable cuff. Toxicological analyses did not reveal any lethal substances. The cause of death was determined to be asphyxia resulting from neck compression. Although no recording of the fatal event was available, the combined scene findings, digital evidence, and autopsy results supported the conclusion of an accidental autoerotic death. This case highlights the value of integrating scene investigation, digital evidence, and autopsy findings when determining the manner of death in suspected autoerotic fatalities.
BACKGROUND:The inverse relationship between vitreous humour (VH) glucose and lactate, classically used in the Traub formula, is widely applied in post-mortem biochemistry. METHODS:We analysed 127 VH samples from external examinations and forensic autopsies performed in a hospital forensic setting (PMI 4-187 h; 58 septic and 69 non-septic deaths). Glucose was available in 78 cases, lactic acid in all 127. Cases were stratified by PMI window, septic status and storage condition. Spearman correlations and non-parametric comparisons were applied. RESULTS:Within the first 24 h post-mortem, glucose and lactic acid showed significant opposite correlations with PMI. Glucose reached a low-value floor of approximately 2 mg/dl by 25-48 h, after which no meaningful PMI-related decrease was observed. Lactic acid showed a different trajectory: septic and non-septic cases had similar baseline levels at ≤10 h, but diverged thereafter, with continued increase in septic cases through 25-48 h. This divergence emerged after glucose depletion, suggesting glucose-independent lactate accumulation. Glucose-lactate coupling was absent in septic cases and weak in non-septic cases. CONCLUSIONS:VH glucose and lactic acid showed limited evidence of direct stoichiometric coupling in this hospital cohort. Glucose reflected PMI mainly within the first 24 h, whereas its interpretative value declined after reaching a post-mortem floor. Lactic acid showed a sepsis-associated post-mortem amplification not explained by glucose availability alone, possibly reflecting autolytic processes. These findings do not invalidate the Traub formula in its original diagnostic context, but caution against its uncritical application in heterogeneous forensic cohorts.
Neutrophil extracellular traps (NETs) are essential components of antimicrobial defense, but excessive or persistent NET accumulation can promote inflammation, tissue injury, thrombosis, and disease progression. DNase I is a major extracellular nuclease involved in the degradation of NETs and extracellular DNA, thereby contributing to immune homeostasis. Genetic variation in DNASE1 may influence this clearance capacity. Among DNASE1 polymorphisms, the Q222R substitution, designated DNASE1*2, is a common functional variant associated with reduced DNase I enzymatic activity. This reduction may limit NET degradation under conditions of increased extracellular DNA burden, such as inflammation and malignancy. Clinical studies have linked DNASE1*2 or DNase I phenotype 2 with myocardial infarction, adverse cardiovascular outcomes, and several malignancies. This review summarizes current evidence supporting DNASE1*2 as a potential genetic modifier of DNase I activity, NET clearance, and disease susceptibility. The review also discusses the possible clinical relevance of DNASE1*2 in disease risk, prognosis, and future genotype-informed therapeutic strategies, which require further validation.
We report a forensic case in which micro-computed tomography (micro-CT)-based three-dimensional (3D) registration of partially severed human clavicle fragments provided additional morphological context for interpreting skeletal toolmarks. Conventional stereomicroscopic examination of the cleaned cut surfaces revealed crossing and overlapping striations that superficially resembled reciprocating saw marks and were difficult to interpret in isolation. The registered micro-CT models exhibited an acute, V-shaped, kerf-like profile with a maximum apparent penetration depth of 7.3 mm. A Python-based cross-sectional angle measurement workflow generated 20 profiles along the visually defined valley of the kerf-like defect, of which 17 were measurable, yielding a mean internal profile angle of 9.07° ± 1.94° (range 5.82°-12.56°). Surface deviation mapping visualized cortical apposition and separation across the registered fracture interface, supporting the interpretation of a morphologically coherent kerf-like cavity, although registration-related effects could not be fully excluded. Multiple shallow straight marks adjacent to the main defect were consistent with false-start-like lesions, although not independently diagnostic of a specific tool class. The 3D morphology and descriptive measurements provided spatial context for evaluating the ambiguous surface striation patterns but were not treated as validated criteria for tool-type identification. This interpretation was broadly consistent with subsequent investigative information, regarded as contextual consistency rather than independent validation. This case suggests that micro-CT-based virtual registration may provide additional morphological context when surface striation patterns are ambiguous; however, systematic experimental validation is required before broader forensic application.
Although intraperitoneal gas and fluid are important indirect findings suggesting peritoneal penetration on postmortem computed tomography (PMCT), these findings are not always present. We report a case of autopsy-confirmed peritoneal penetration without intraperitoneal gas or detectable intraperitoneal fluid on PMCT. A man in his 40s was found dead on a snowy slope with an abdominal stab wound. PMCT demonstrated discontinuity of the linea alba with interposition of adjacent fat tissue and a small mesenteric hematoma. However, neither intraperitoneal gas nor detectable intraperitoneal fluid was identified, and the wound was initially misinterpreted as superficial. Autopsy revealed a penetrating wound extending through the linea alba, greater omentum, transverse mesocolon, and small-bowel mesentery without injury to the bowel or solid organs. Intraperitoneal hemorrhage was minimal and not measurable, and hypothermia was determined to be the cause of death. This case demonstrates that the absence of intraperitoneal gas and detectable intraperitoneal fluid on PMCT does not exclude peritoneal penetration. Careful assessment of the wound tract and meticulous evaluation of subtle imaging findings suggestive of peritoneal penetration is essential for the accurate assessment of abdominal stab wounds.
Dismemberment is the voluntary removal of body parts after death, and today it is very often associated with criminal activity (murder). It can be distinguished as localised or generalised, depending on whether one or a few pieces are separated from the body or multiple pieces are involved. In another classification, dismemberment is divided into defensive, aggressive, offensive and necromantic, based on the psychological motivation of the perpetrator. A dismembered body poses a series of difficulties for the forensic pathologist because it is often difficult to establish the cause and time of death. Sometimes there are also significant identification issues. We present two cases we have observed: one of minimal (localised) dismemberment and another of extensive (generalised) dismemberment. A detailed description of the circumstances of the discovery and the injuries is provided. The first case involved two women, mother and daughter, murdered by the son/brother, the second a woman killed by her partner. In both cases, the corpses were disarticulated with sharp instruments, according to the literature, as it has been observed that the most commonly used tool is the knife, especially for disarticulation. Furthermore, the autopsy, X-ray examinations, and DNA analysis enabled the identification of all the victims. The analysis of our cases, together with the literature including case reports and case series, shows that only a careful examination of the injuries and a multidisciplinary approach can yield useful insights into unravelling these complex cases.
OBJECTIVE:This study aimed to investigate the relationship between the clot weight-to-blood volume ratio in postmortem cardiovascular blood measured at autopsy and clot findings on postmortem computed tomography (PMCT) in fatal hypothermia. MATERIALS & METHODS:This retrospective study included 57 forensic autopsy cases of fatal hypothermia. At autopsy, pooled right- and left-sided blood samples from multiple cardiac chambers and great vessels were collected separately. Blood volumes were measured, recovered clots were weighed, and the clot weight-to-blood volume ratio was calculated and compared with corresponding PMCT findings. RESULTS:The median clot weight-to-blood volume ratio was significantly higher in left-sided than in right-sided cardiovascular blood (15.0% and 9.23%, respectively, Wilcoxon signed-rank test, P = 0.0008). The clot weight-to-blood volume ratio was significantly lower in cases with a PMI ≤2 d than in those with a PMI ≥2.5 d, and cases with a PMI ≤2 d frequently showed fluid blood without apparent clot formation. In the present study, all cases with a clot weight-to-blood volume ratio ≥ 20% showed corresponding clot findings on PMCT, whereas PMCT findings were variable in cases with lower clot weight-to-blood volume ratios. CONCLUSION:In fatal hypothermia, PMCT frequently demonstrates blood clots in the left atrium and thoracic aorta, suggesting that evaluation of the left heart in addition to the right heart may provide useful information. In cases where the PMI is ≤2 d, caution is warranted because, even in cases of hypothermia, clots may not have formed, and the blood may exhibit high fluidity.
OBJECTIVE:To compare upper and lower cervical spine injuries in fatal cervical spine trauma with respect to injury mechanism, associated traumatic findings, and spinal cord injury, and to investigate whether upper cervical injury is independently associated with spinal cord injury and death at the scene. METHODS:This retrospective, single-center study included exclusively fatal adult autopsy cases with cervical vertebral fractures examined at the XXX Group Presidency of the Council of Forensic Medicine between 2025 and 2026. Injuries were classified as upper cervical (occiput-C2) or lower cervical (C3-C7). Demographic characteristics, injury mechanisms, fracture patterns, spinal cord injury, associated traumatic findings, and death at the scene were compared between the two groups. Univariable and multivariable logistic regression analyses were performed to identify factors independently associated with spinal cord injury and death at the scene. RESULTS:A total of 130 cases were included. Upper cervical injuries were significantly associated with high-energy trauma (p < 0.001), multilevel fractures (p = 0.009), spinal cord injury (p = 0.007), head injury (p < 0.001), and death at the scene (p = 0.003). In the multivariable analysis, no variable remained independently associated with spinal cord injury. However, upper cervical injury remained independently associated with death at the scene (adjusted OR, 4.53; 95% CI, 1.71-11.97; p = 0.002). CONCLUSIONS:Compared with lower cervical injuries, upper cervical injuries were associated with a more severe injury pattern in fatal cervical spine trauma. Although no variable remained independently associated with spinal cord injury, upper cervical injury remained independently associated with death at the scene.
Complex suicide involving sharp-force injury and drowning may closely mimic homicide and requires careful reconstruction of the terminal mechanism. We report an anonymized case of a 27-year-old man found prone in a bathtub containing water mixed with blood after emergency entry into his apartment. Blood traces were documented in several rooms. Autopsy identified 18 stab-incised wounds of the precordial and epigastric regions, hesitation-type superficial injuries, old linear forearm scars, and no defensive injuries. Seven wounds penetrated the thoracic cavity; however, the limited right ventricular injury and approximately 100 mL of hemopericardium did not support rapidly fatal cardiac tamponade or immediate exsanguination. Persistent fine froth, overdistended waterlogged lungs, gastric liquid content, liquid blood, and visceral congestion supported drowning only when interpreted in the overall investigative context. Hand maceration was considered an immersion-related change, not evidence of vital drowning by itself. Scene blood distribution indicated preserved mobility after stabbing. Integration of wound accessibility, injury severity, post-injury mobility, drowning-supportive findings, toxicology, histology, and circumstantial information supported a suicidal manner of death, with drowning as the terminal mechanism. This case illustrates the forensic value of structured scene-autopsy reconstruction when multiple potentially fatal findings coexist.
BACKGROUND:Penetrating neck injuries are usually caused by sharp-edged weapons, and their morphology often raises suspicion of homicidal sharp-force trauma. Accidental impalement by a rigid natural object, such as a wooden branch, is rare but may closely simulate a stab injury, complicating the determination of the manner of death. CASE PRESENTATION:A 30-year-old man was brought dead to the emergency department following a road traffic accident. External examination revealed a solitary spindle-shaped wound over the left supraclavicular region, with sharply split, gaping margins resembling a stab wound but lacking the hilt mark, guard abrasion, or tailing typical of knife injuries, raising suspicion of homicide while also suggesting an atypical, non-bladed instrument. Autopsy revealed a deep wound track passing inward and downward into the superior mediastinum, with haemorrhagic infiltration confirming an antemortem injury, and a linear laceration of the ascending aorta with haemomediastinum and haemothorax; death was attributed to haemorrhagic shock. Crime scene investigation identified a roadside pile of dried wooden branches with sharp, rigid projections and fresh blood staining, serologically matched to the victim, with no weapon or evidence of assault, establishing an accidental manner of death. CONCLUSION:Fatal accidental impalement by a wooden branch is uncommon but can closely mimic homicidal sharp-force trauma. Wound morphology alone may be insufficient to determine the causative object or manner of death, and integrating autopsy findings with crime scene reconstruction is essential to avoid misclassification.
Auricular morphology exhibits marked inter-individual variability and has potential applications in forensic human identification and morphometric research. However, conventional ear measurements mainly rely on two-dimensional images or limited linear parameters, which are insufficient to comprehensively characterize the three-dimensional spatial structure and complex surface variations of the auricle. This study aims to establish a standardized and reproducible three-dimensional quantification framework for auricular morphology, enabling systematic description and analysis of spatial morphological features of the human ear. Based on three-dimensional auricular models, a homologous morphometric framework was constructed using anatomical landmarks, and a two-stage Generalized Procrustes Analysis (GPA) was applied to achieve spatial standardization across individuals. A multi-scale quantitative system was then developed, including global morphological features, regional morphological characteristics, curvature-based features, surface curvature metrics, thickness-related descriptors, and spatial relational features. Principal Component Analysis (PCA) was further used to evaluate patterns of auricular shape variation and assess feature space coverage. The results show that the GPA-based normalization effectively removes inter-individual differences in position, orientation, and scale while preserving key geometric information related to auricular morphological variation. Multi-dimensional feature analysis indicates that auricular shape variation arises not only from differences in overall contour but also from local structural variations across anatomical regions, surface complexity, and spatial organization relationships. The proposed framework converts complex auricular morphology into stable and comparable continuous variables, providing a robust methodological basis for sample variation analysis, individual identification, and forensic applications.
Accurate determination of wound age is crucial in forensic investigations, aiding in crime scene analysis and establishing the cause of death. However, this remains a challenging task in medicolegal practice. This study aimed to investigate the temporal dynamics of skin incised wound healing in adult male albino rats by employing biochemical, histopathological, and immunohistochemical analyses. Thirty-six adult male albino rats were utilized. Six served as controls, while the remaining thirty were equally divided into five groups. Standardized incisions were inflicted, and the animals were euthanized at predetermined time points (1, 3-, 5-, 7- and 14-days post-wounding). Blood and skin samples were collected for subsequent biochemical, histopathological, and immunohistochemical examinations, including morphometric analysis. Significant elevations in Interleukin-6 (IL-6) and nitric oxide (NO) were observed, peaking at days 1 and 3 post-wounding, respectively. Indicators of the wound repair process were detected 3-, 5- and 7-days post-wounding and a scab covering the wound surface was detected until the 7th day and completely detached at 14 days post-wounding. Collagen fiber deposition demonstrated a significant increase, reaching its peak at day 14 post-wounding. Immunohistochemical analysis revealed a significant upregulation of vascular endothelial growth factor (VEGF), peaking at day 7 post-wounding. The observed temporal changes in biochemical, histological, and immunohistochemical parameters during skin incisional wound healing in rats provide valuable insights that may contribute to the development of more accurate methodologies for wound age estimation in forensic contexts.
