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.     

The Complex Relationship Between Motherhood and Desistance

Using a sample of 118 drug-involved women originally released from prison in the 1990s and re-interviewed between 2010 and 2011, this paper examines the role motherhood played in the desistance process from crime and substance abuse. Interview narratives revealed that motherhood rarely functioned as a turning point per se that activated desistance, but caring for children did serve to solidify prosocial identities once offenders had transformed their addict/criminal identities. Despite their identity transformations, however, the journey of desistance for the majority of mothers was still a long and arduous path. The reality for these mothers most often resembled a hostile terrain marked by the competing demands of battling addiction, finding employment and suitable housing with a criminal record, establishing visitation and custody rights in family court, and regaining the trust of children and family members who had long ago lost faith in their commitment to their families. This research illuminates the complexities inherent in the desistance process for a contemporary sample of drug involved adult women entrenched within the criminal justice system.     

A Multilevel Investigation of the Association between School Context and Adolescent Nonphysical Bullying

Although researchers have identified individual-level predictors of nonphysical bullying among children and youth, school-level predictors (i.e., characteristics of the school environment that influence bullying exposure) remain largely unstudied. Using data from a survey of 1,838 students in 21 Boston public high schools, we used multilevel modeling techniques to estimate the level of variation across schools in student reports of nonphysical bully victimization and identify school-level predictors of bullying. We found significant between school variation in youth reports of nonphysical bullying, with estimates ranging from 25-58%. We tested school-level indicators of academic performance, emotional well-being, and school safety. After controlling for individual-level covariates and demographic controls, the percent of students in the school who met with a mental health counselor was significantly associated with bullying (OR = 1.03, 95% CI = 1.01, 1.06). There was no significant association between school-level academic performance and perceptions of school safety on individual reports of bullying. Findings suggest that prevention and intervention programs may benefit from attending to the emotional well-being of students and support the importance of understanding the role of the school environment in shaping student experiences with bullying.     

Harsh Discipline and Child Problem Behaviors: The Roles of Positive Parenting and Gender

This study examined harsh verbal and physical discipline and child problem behaviors in a community sample of 2,582 parents and their fifth and sixth grade children. Participants were recruited from pediatric practices, and both parents and children completed questionnaire packets. The findings indicated that boys received more harsh verbal and physical discipline than girls, with fathers utilizing more harsh physical discipline with boys than did mothers. Both types of harsh discipline were associated with child behavior problems uniquely after positive parenting was taken into account. Child gender did not moderate the findings, but one dimension of positive parenting (i.e., parental warmth) served to buffer children from the detrimental influences of harsh physical discipline. The implications of the findings for intervention programs are discussed. This research was supported by a grant from the National Institute on Alcohol Abuse and Alcoholism.     

Eosinophilic Coronary Periarteritis with Arterial Dissection: The Mast Cell Hypothesis

A subset of coronary arterial dissections is associated with eosinophilic coronary periarteritis (ECPA); however, the pathogenesis of the process remains unclear. Mast cells normally reside in coronary arterial adventitia and are known mediators of eosinophilic inflammatory conditions such as type I hypersensitivity reactions. We report two cases in which coronary arterial dissection with ECPA was detected at autopsy. Tryptase, CD68, CD4, CD8, and CD1a immunohistochemical staining was performed to better characterize inflammation. While eosinophils represented a prominent periadventitial inflammatory cell, there were slightly more lymphocytes: CD4/CD8 ratios were within expected reference ranges. There were moderate numbers of macrophages, and few neutrophils or dendritic cells. Numbers of mast cells in dissected versus nondissected sections were compared: adventitial mast cell densities were threefold higher in dissected portions and showed a trend toward increased degranulation. These findings suggest that mast cells may play a role in orchestrating inflammation in cases of ECPA.