Explore the vast range of titles available.

Individuals diagnosed with schizophrenia or bipolar disorder have a life expectancy 15–20 years shorter than that in the general population. The rate of unnatural deaths, such as suicide and accidents, is high for these patients. Despite this increased proportion of unnatural deaths, physical conditions account for approximately 70% of deaths in patients with either schizophrenia or bipolar disorder, with cardiovascular disease contributing 17.4% and 22.0% to the reduction in overall life expectancy in men and women, respectively. Risk factors for cardiovascular disease, such as smoking, unhealthy diet and lack of exercise, are common in these patients, and lifestyle interventions have been shown to have small effects. Pharmacological interventions to reduce risk factors for cardiovascular disease have been proven to be effective. Treatment with antipsychotic drugs is associated with reduced mortality but also with an increased risk of weight gain, dyslipidaemia and diabetes mellitus. These patients have higher risks of both myocardial infarction and stroke but a lower risk of undergoing interventional procedures compared with the general population. Data indicate a negative attitude from clinicians working outside the mental health fields towards patients with severe mental illness. Education might be a possible method to decrease the negative attitudes towards these patients, thereby improving their rates of diagnosis and treatment.Cardiovascular disease is one of the major factors contributing to the reduced life expectancy of patients with severe mental illness. In this Review, Nielsen and colleagues discuss the current knowledge of risk factors, diagnosis, treatment and outcomes of cardiovascular disease in patients with schizophrenia or bipolar disorder.

Since cardiac hypertrophy may be considered a cause of death at autopsy, its assessment requires a uniform approach. Common terminology and methodology to measure the heart weight, size, and thickness as well as a systematic use of cut off values for normality by age, gender, and body weight and height are needed. For these reasons, recommendations have been written on behalf of the Association for European Cardiovascular Pathology. The diagnostic work up implies the search for pressure and volume overload conditions, compensatory hypertrophy, storage and infiltrative disorders, and cardiomyopathies. Although some gross morphologic features can point to a specific diagnosis, systematic histologic analysis, followed by possible immunostaining and transmission electron microscopy, is essential for a final diagnosis. If the autopsy is carried out in a general or forensic pathology service without expertise in cardiovascular pathology, the entire heart (or pictures) together with mapped histologic slides should be sent for a second opinion to a pathologist with such an expertise. Indication for postmortem genetic testing should be integrated into the multidisciplinary management of sudden cardiac death.

In sudden cardiac death, an autopsy is an essential step in establishing a diagnosis of inherited cardiac disease and identifying families that require cardiac screening. To evaluate aspects of post-mortem practice in Europe, a questionnaire was designed and circulated to both clinical and forensic pathologists. There was a 48% response rate and information was obtained from 17 countries. The results showed a wide variety in the management of sudden cardiac death, with a general tendency towards a lack of thorough investigation. In up to 40% of cases, autopsies were not performed in subjects less than 50 years who may have died from cardiac disease. Reasons for this were lack of finance and lack of interest from police, legal authorities, and doctors. Only 50% of pathologists seem to follow a standard protocol for autopsy examination, apparently due to lack of expertise and/or training. When autopsies were performed, histology and toxicology were almost always taken, genetic studies were generally available and retention of the heart for specialist study was usually permitted. Our results suggest that although the standard of practice is appropriate in many centres, many more cases should have autopsies, especially in sudden deaths in subjects less than 50 years.

BackgroundSudden cardiac death (SCD) is a major public health problem and constitutes a diagnostic and preventive challenge in forensic pathology, especially for cases with structural normal hearts at autopsy, so-called sudden arrhythmic death syndrome (SADS). The identification of new genetic risk factors that predispose to SADS is important, because they may contribute to establish the diagnosis and increase the understanding of disease pathways underlying SADS. Pathogenic mutations in the protein coding regions of cardiac genes were found in relation to SADS. However, much remains unknown about variants in non-coding regions of the genome.Methods and resultsIn this study, we explored the potential of whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) to find DNA variants in SCD victims with structural normal hearts.With focus on the non-coding regulatory regions, we re-examined a cohort of 13 SADS and sudden unexplained death in infancy (SUDI) victims without disease causing DNA variants in recognized cardiac genes. The genetic re-examination of DNA was carried out using frozen tissue samples and WTS was carried out using five distinct formalin fixed and paraffin embedded (FFPE) cardiac tissue samples from each individual, including anterior and posterior walls of the left ventricle, ventricular papillary muscle, septum, and the right ventricle. We identified 23 candidate variants in regulatory sequences of cardiac genes, including a variant in the promotor region of NEXN, c.-194A>G, that was found to be statistically significantly (p < 0.05) associated with decreased expression of NEXN and cardiac hypertrophy.ConclusionWith the use of post-mortem FFPE tissues, we highlight the potential of using WTS investigations and compare gene expression levels with DNA variation in regulatory non-coding regions of the genome for a better understanding of the genetics of cardiac diseases leading to SCD.

Child abuse continues to pose a significant threat to children's health. The repercussions of abuse are profound, impacting the child's physical, social, and emotional well-being, with potential long-term effects that may extend into adulthood. To assist in identifying health concerns in children associated with exposure to physical abuse, a health questionnaire was developed to be used in the setting of a forensic examination. This study examines whether children suspected of being exposed to physical violence report more health-related concerns compared to unexposed controls. The case group consists of children suspected of being exposed to physical violence, with reports to the Copenhagen police. Cases were examined from April 1, 2020, to December 31, 2023, at the Child Advocacy Centre (CAC) in Copenhagen, totaling 374 examinations. A control group of children aged 4-14 years with no suspicion of abuse was established through recruitment via social media platforms (Facebook, LinkedIn), posters, and word of mouth. Controls were examined from November 1, 2023, to September 30, 2024, totaling 122 examinations. Children underwent a standardized forensic examination, which included a health interview reviewing health behaviors (e.g., diet, toothbrushing, and sleep patterns) and well-being (liking school/preschool, having friends, and trusted adults). Overall, cases reported significantly more concerns than controls on several assessed items. With multivariate logistic regression, adjusted for all significant covariates and stratified by age, two concerns remained significant. Cases aged 8-14 years, had significantly higher odds of brushing their teeth once daily or less (OR: 3.85; CI: 1.47-10.12) and reported low enjoyment of school (OR: 3.74; CI: 1.03-13.53). Health interviews may support the identification of children at risk. However, the statistical power was limited, and the findings require validation in larger populations.

Autopsies continue to be the most reliable source of mortality statistics; however, more and more death certificates are based on the post-mortem external examination (PME) alone. Forensic PMEs differ from clinical PMEs, because the forensic pathologist usually has no preceding knowledge of the health of the decedent and must rely on information from authorities in the form of the police report. It is useful at the forensic PME to know whether the decedent suffered from a mental illness; however, it is unknown how valid such a diagnosis is, when based upon information in the police report alone. This study compared tentative diagnoses of schizophrenia from 500 forensic PMEs with a reference database based on the Danish National Patient Registry. We found that 19.3% of schizophrenia cases were missed, and 9.1 % of identified cases were false positives. Overall, 11.4% of all assessments were incorrect. Subgroup analysis showed that marital status as 'single' and the finding of illegal substances at the scene were predictors for both correctly identified and overlooked schizophrenia cases. The most reliable source of information was the decedent’s general practitioner, whereas friends and neighbors were the most unreliable. Future studies should be aware of the risk of assigning a wrong diagnosis and use as many sources of information as possible. Taking the decedent’s social history and observations about the scene into account may add to the diagnostic accuracy.

BackgroundSIDS is a diagnosis of exclusion applied to the death of an infant < 1 year of age after an extensive post-mortem investigation. From 1980 to 2018, a total of 870 infants have been autopsied at the Section of Forensic Pathology, Department of Forensic Medicine, UCPH, covering East Denmark. In the same period, Danish national guidelines for infant care have been revised to avoid infants dying of SIDS.ObjectiveThis study aimed to describe trends in infant autopsies regarding cause and manner of death, gender, age, month of death, sleeping position, and bed-sharing. The trends were compared to the change in national SIDS guidelines during the period of this study.DesignInformation from autopsy reports from 1980 to 2018 were collected into 55 categories designed specifically for this study. Data from 7 of these categories were chosen and processed in Excel for basic epidemiological comparison.ResultsThe trends show that most infants in the study die of natural manner and most predominant causes of death are SIDS, infection, and congenital malformations. A change in national guidelines in 1991 recommending supine- or side sleeping position coincided with a reduction in the overall infant mortality and cases of SIDS. The peak age in the cohort is 90 days, but stratification in decades shows the infants dying younger each decade. Through the study period, the number of infants found dead sleeping in the prone position has declined. Relatively more infants in this cohort have been found dead while bed-sharing, even though the prevalence of these cases has remained largely the same for four decades.

Sudden unexpected death in the young continues to be an important unsolved challenge. A significant proportion of the deaths are suspected to be caused by inherited cardiac diseases and are referred to as sudden cardiac deaths (SCD). We performed targeted molecular testing of 70 deceased individuals under 40 years of age that after forensic autopsy were suspected to have died of SCD. The individuals were previously genetically investigated using smaller numbers of genes associated with specific cardiac diseases. In our previous studies, seven (10%) individuals had pathogenic or likely pathogenic variants according to the 2015 ACMG guidelines. In order to investigate the value of expanding the panel to 100 genes associated with cardiac diseases, we histopathologically re-examined the 70 suspected SCD cases and grouped them according to phenotypes into suspected cardiomyopathy (the cardiomyopathy group), left ventricular hypertrophy (the hypertrophy group) and structural normal hearts (the SUD group). DNA was captured with the Haloplex target enrichment system and sequenced using an Illumina MiSeq. We found that 11 (16%) individuals harboured pathogenic or likely pathogenic variants. In the cardiomyopathy, hypertrophy and SUD groups, 22%, 6% and 17% of the individuals, respectively, harboured pathogenic or likely pathogenic variants. Our findings show that testing of a broad panel of genes associated with cardiac diseases identify potential pathogenic variants of cardiac diseases in a significant proportion of SCD cases, and this may have important implications in family screening to prevent future deaths.

Myocarditis is associated with an increased risk of sudden cardiac death (SCD) in the young. However, information on nationwide burden of SCD caused by myocarditis (SCD-myocarditis) is sparse. For this study all deaths among persons in Denmark aged 1-35 years in 2000-2009 and 36-49 years in 2007-2009 (27.1 million person-years) were included. Autopsy reports, death certificates, discharge summaries, and nationwide registries were used to identify all cases of SCD-myocarditis. In the 10-year study period, there were 14 294 deaths, of which we identified 1 363 (10%) SCD. Among autopsied SCD (n = 753, 55%), cause of death was myocarditis in 42 (6%) cases corresponding to an SCD-myocarditis incidence of 0.16 (95%CI: 0.11-0.21) per 100 000 person-years. Males had significantly higher incidence rates of SCD-myocarditis compared to females with an incidence rate ratio of 2.2 (95%CI: 1.1-4.1). Myocarditis was not registered as cause of death in any of the non-autopsied SCD (n = 610, 45%). In conclusion, after nationwide unselected inclusion of 14 294 deaths, we found that 6% of all autopsied SCD was caused by myocarditis. No cases of SCD-myocarditis were reported in the non-autopsied SCD, which could reflect underdiagnosing of myocarditis in non-autopsied SCD. Furthermore, our data suggest a female protection towards SCD-myocarditis.

Clinical forensic medical examinations constitute an increasing proportion of our institution’s tasks, and, concomitantly, the authorities are now requesting forensic life-threatening danger assessments based on our examinations. The aim of this retrospective study was to assess if a probability of survival (PS) trauma score could be useful for these forensic life-threatening danger assessments and to identify a cut-off PS score as a supporting tool for the forensic practice of assessing life-threatening danger. We compared a forensic database and a trauma database and identified 161 individuals (aged 15 years or older) who had both a forensic life-threatening danger assessment and a PS score. The life-threatening danger assessments comprised the following statements: was not in life-threatening danger (NLD); could have been in life-threatening danger (CLD); or was in life-threatening danger (LD). The inclusion period was 2012–2016. A statistically significant difference was found in the PS scores between NLD, CLD and LD (chi-square test: p < 0.0001). The usefulness of the PS score for categorizing life-threatening danger assessments was determined by a receiver-operator characteristic (ROC) curve. The area under the curve was 0.76 (95% CI, 0.69 to 0.84) and the ROC curve revealed that a cut-off PS score of 95.8 would appropriately identify LD. Therefore, a PS score below 95.8 would indicate life-threatening danger. We propose a further exploration of how the evidence-based PS score, including a cut-off value, might be implemented in clinical forensic medical statements to add to the scientific strength of these statements.