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.