Postmortem genetic testing in sudden unexplained death: A public health laboratory experience

Sudden unexplained death in the young poses a diagnostically challenging situation for practicing autopsy pathologists, especially in the absence of anatomic and toxicological findings. Postmortem genetic testing may identify pathogenic variants in the deceased of such cases, including those associated with arrhythmogenic channelopathies and cardiomyopathies. The Wisconsin State Laboratory of Hygiene (WSLH) is a state-run public health laboratory which performs postmortem genetic testing at no cost to Wisconsin medical examiners and coroners. The current study examines sequencing data from 18 deceased patients (ages 2 months to 49 years, 5 females) submitted to WSLH, from 2016 to 2021. Panel-based analysis was performed on 10 cases, and whole exome sequencing was performed on the most recent 8 cases. Genetic variants were identified in 14 of 18 decedents (77.8%), including 7 with pathogenic or likely pathogenic variants (38.9%). Whole exome sequencing was more likely to yield a positive result, more variants per decedent, and a larger number of variants of uncertain significance. While panel-based testing may offer definitive pathogenic variants in some cases, less frequent variants may be excluded. Whole exome testing may identify rare variants missed by panels, but increased yield of variants of uncertain significance may be difficult to interpret. Postmortem genetic testing in young decedents of sudden unexplained death can provide invaluable information to autopsy pathologists to establish accurate cause and manner of death and to decedent's relatives to allow appropriate management. A public health laboratory model may be a financially advisable alternative to commercial laboratories for medical examiner's/coroner's offices.     

An unusual blunt force trauma pattern and mechanism to the cranial vault: Investigation of an atypical infant homicide

This case report presents an unusual fracture pattern in the cranium of a four-month-old infant indicative of child abuse. Upon postmortem examination, the infant presented with numerous bilateral linear cranial fractures running perpendicular to the sagittal suture with depressed and curvilinear fractures apparent on the supra-auricular surfaces of the cranium. Histological evidence indicates multiple traumatic events to the cranium. In addition, the stair-step pattern of a parietal fracture may represent multiple contiguous fractures from repeated loading of the head at different times with variation of the focal points of compressive force. Additionally, the left humerus, left radius, and left ulna have healing metaphyseal fractures, and the left ulna also has an antemortem diaphyseal fracture which resulted in the distal metaphysis being rotated 45 degrees medially. Integration of autopsy, anthropological, and neuropathological reports for this case suggest multiple inflicted injury episodes with a repeated atypical mechanism(s) to the cranial vault of the infant. During investigative interviews, the caretaker admitted to squeezing the infant's head and neck on multiple occasions to quiet the child. This reported abusive mechanism is consistent with the pattern of symmetric cranial fractures and soft tissue injuries indicating asphyxiation. This case report provides forensic investigators with a potential trauma mechanism to explore in cases when a similar pattern of cranial trauma is observed and highlights the need for greater research on fracture propagation and fracture healing in the infant cranium.     

Pathway to terrorist behaviors: The role of childhood experiences,personality traits,and ideological motivations in a sample of Iraqi prisoners

Radicalization to terrorism is a multifaceted process with no single theory or approach to explain it. Although research has focused on understanding the process, there is still a dearth of studies that examine an empirically driven pathway to terrorism behavior. This study examines a cross-sectional sample of incarcerated men convicted of terrorism in Iraq (N = 160). A questionnaire-guided interview included adverse childhood experiences (ACEs), conduct disorder (CD), antisocial personality disorder (ASPD), religious and political ideology, views about causes of terrorism, and the severity of terrorist acts. Path analysis was employed to examine the relationships between these factors and to identify the model with the best fit. After adjusting for age, employment, and location, results indicated that ACEs positively impacted CD, ASPD, religious guidance, and terrorism attitudes. ASPD positively affected political commitment and terrorism attitudes, but inversely affected current religious commitment. Political commitment inversely influenced terrorism attitudes. Religious commitment positively influenced the prioritization of religion in life, which subsequently impacted terrorism attitudes and behavior severity. Additionally, attitudes toward terrorism directly affected the severity of terrorism behavior. All paths in the final model were statistically significant at p < 0.05. Although these findings may be limited in generalizability due to the unique sample, results support the complex and interdependent nature of childhood and adult experiences on the development of both terrorism attitudes and the severity of terrorism behavior.     

Detection of methamphetamine in mouse femurs exposed to high temperature

Bone samples are valuable for examining the cause of death and circumstance leading up to death when body fluids are not available for forensic toxicological analysis. Examined were heat-induced changes in methamphetamine and amphetamine concentrations in femurs removed from methamphetamine-injected mice to determine if the burned bones could be used for toxicology testing. The femurs were heated at 100°C, 300°C, or 500°C for 10 or 30 min. The tissue structure of the heated femurs was preserved at 100°C for 30 min but was destructed at higher temperatures. Methamphetamine and amphetamine were detected in femurs heated at 100°C for 10 min, 100°C for 30 min, and 300°C for 10 min (with methamphetamine and amphetamine concentrations ranging from 0.36 to 35 μg/g and 0.54 to 47 μg/g, respectively). Methamphetamine and amphetamine were detectable when heated above their decomposition temperature as a result of limited heat transfer do to protection provide by the femoral muscle. Thus, the bone could be a useful analytical sample in cases of burn-related deaths, where it is difficult to collect body fluids.     

Fatal rupture of hepatic adenomatosis: Autopsy case and review of the literature

Hepatic adenomatosis is a rare disease consisting of multiple adenomas in otherwise-normal liver parenchyma. Though the discovery of this entity goes back several years, its diagnosis is still challenging in terms of its definition and pathophysiology. Clinically, patients may be completely asymptomatic and the diagnosis is only made incidentally through imaging tests. The discovery could be made when complications occur such as intraperitoneal hemorrhage with hypovolemic shock due to the rupture of an adenoma. We report a fatal case of a ruptured adenoma in a case of hepatic adenomatosis discovered at autopsy. In order to achieve a better view of this disease, we conducted a literature review on this subject describing the pathogenesis, manifestations, and autopsy contribution to addressing this entity.     

Homicidal electrocution disguised as an accidental death

Deaths due to electrocution are mostly accidental. Homicide by electrocution is rarely reported in the literature. However, the location and pattern of the electrocution wound can raise concern for a possible homicidal manner of death. We are reporting an unusual case wherein the dead body of a middle-aged man was found lying in a suspicious condition on the roadside of desolated area. There were circumferential, grooved electrocution lesions over the left and right second toes with oval electrocution lesions on the medial aspects of both the left and right third toes. There were split lacerations over the right high parietal region, right pinna, and forehead. There was avulsion of the nail of the left thumb. Pressure abrasion was consistent with a ligature mark on the lower part of the left leg. The locations and pattern of these injuries raised the possibility of torture infliction. Death was attributed to electrocution, which was confirmed by histopathology. Autopsy findings and possible inferences were furnished to the police. This case highlights the careful observation of different characterizations and locations of the wounds and deducing inferences about the possible manner of death. This information can be useful to investigating agencies.     

Modification of the Marmarou and Foda model of diffuse axonal injury (DAI) improves percentage survival of rats at 24 h and increases the amount of DAI identified

More than two decades ago, Marmarou published a valid model for producing diffuse axonal injury (DAI) in rats. Since then, both mild and severe injuries have been obtained by researchers using the original method and a weight of 450 g. However, the diffuse brain injuries produced in rats were only similar to those seen in humans when the rats sustained severe brain injuries. In these cases, rat mortality in the original article was around 50%, and the cause of death was prolonged apnea post-impact. Rat survival after impact is critical for studying the progression of DAI. In order to explain the cause of death in human victims with cranial trauma who do not show gross brain injury, testing for the presence of DAI is essential. Thus, in order to minimize local and cervical injuries to increase rat survival, attention should be paid to the following aspects: a wider head protector disc should be used, the head of the rat should be elevated at the time of impact, and the foam bed should be soft enough to allow the movement caused by acceleration. With our modified method, rat survival increased by 30% compared to the original model (80% versus 50%). Moreover, 85.7% of rats demonstrated DAI after 24 h of survival. With these modifications, injuries appear in the same locations as in humans; thus, the method is suitable for the study of traumatic DAI in humans.