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RBM20 is one of the genes predisposing to dilated cardiomyopathy (DCM). Variants in the RS domain have been reported in many DCM patients, but the pathogenicity of variants within the RNA-recognition motif remains unknown. Two human patients with the I536T- RBM20 variant without an apparent DCM phenotype were identified in sudden death cohorts. A splicing reporter assay was performed, and an I538T knock-in mouse model ( Rbm20 I538T ) was generated to determine the significance of this variant. The reporter assay demonstrated that the human I536T variant affected the TTN splicing pattern compared to wild-type. In the mouse experiments, Rbm20 I538T mice showed different splicing patterns in Ttn , Ldb3 , Camk2d , and Ryr2 . The expressions of Casq1 , Mybpc2 , and Myot were upregulated in Rbm20 I538T mice, but Rbm20 I538T mice showed neither DCM nor cardiac dysfunction on histopathological examination and ultrasound echocardiography. The I536T- RBM20 (I538T- Rbm20 ) variant changes gene splicing and affects gene expression, but the splicing and expression changes in Ttn and Ca handling genes such as Casq1 , Camk2d , and Ryr2 do not cause DCM morphology in the mouse model. Key messages • Two human patients with the I536T- RBM20 variant without a DCM phenotype were identified. • A splicing reporter assay demonstrated that the variant affected the TTN splicing. •  Rbm20 I538T mice showed neither DCM nor cardiac dysfunction. •  Rbm20 I538T mice showed different splicing patterns and the gene expressions.

Ever declining autopsy rates have been a concern of pathologists as well as clinicians for decades. Notably, in the field of oncology, data on autopsies and discrepancies between clinical and autoptic diagnoses are particularly scarce. In this retrospective study, we show the effect of a simple catalog of measures consisting of a different approach to obtain consent for autopsy, structured conferencing, and systematic teaching of residents, as well as a close collaboration between clinicians and pathologists on the numbers of autopsies, especially of oncological patients. Additionally, postmortem examination protocols from the years 2015 until 2019 were analyzed, regarding rates of discrepancies between clinical and autoptic causes of death in this category of patients. Autopsy numbers could be significantly increased from a minimum in 2014 (60 autopsies) to a maximum in 2018 (142 autopsies) ( p  < 0.0001). In the 67 autopsies of oncological cases, a high rate of 51% of major discrepancy between clinical and autoptic causes of death could be detected. In contrast to the general reported decline of autopsy rates, we present rising autopsy numbers over the past 5 years with an increasing number of oncological cases who underwent a postmortem examination. The high percentage of major discrepancies between clinical and autopsy diagnosis is in contrast to an expected decrease of major discrepancies in times of precise diagnostic methods and underlines the importance of autopsies to ensure high quality in diagnostics and therapy not only in the field of oncology.

Objective: To describe the attitudes of neonatologists to trial related perinatal postmortem examinations (PMs), in the light of declining perinatal PM rates and poor levels of participation in pathology studies. Methods: A qualitative study was carried out, using semistructured interviews. Twenty six neonatologists from five UK neonatal units were interviewed; five UK perinatal pathologists also contributed to the study. The professionals involved were all linked to one or both of two neonatal trials. Results: Pathologists expressed concern over the difficulties experienced in UK perinatal pathology and the impact on research of inadequate levels of samples. The interviews with neonatologists reveal discomfort over approaching bereaved parents for PMs, and a widespread concern that parents should not be further distressed or feel under pressure to consent. Although there was support for neonatal trials, the study highlights a view that PMs may be unnecessary if the cause of death seems apparent or when a baby was born prematurely, and a devaluation of PMs among some younger staff. Poor rates of participation in pathology studies may be accounted for by a notable sense of disconnection between trial interventions and pathology studies. Conclusions: Neonatologists were concerned to protect vulnerable parents and varied in whether they saw this as compatible with inclusion in trial related pathology studies. Dedicated research is needed to document and gain an understanding of the consent process and should examine the usefulness and impact of consent forms. It should assess whether professionals might benefit from training, to help parents to come to their decisions.

Google Glass is a promising premarket device that includes an optical head-mounted display. Several proof of concept reports exist, but there is little scientific evidence regarding its use in a medical setting. The objective of this study was to empirically determine the feasibility of deploying Glass in a forensics setting. Glass was used in combination with a self-developed app that allowed for hands-free operation during autopsy and postmortem examinations of 4 decedents performed by 2 physicians. A digital single-lens reflex (DSLR) camera was used for image comparison. In addition, 6 forensic examiners (3 male, 3 female; age range 23-48 years, age mean 32.8 years, SD 9.6; mean work experience 6.2 years, SD 8.5) were asked to evaluate 159 images for image quality on a 5-point Likert scale, specifically color discrimination, brightness, sharpness, and their satisfaction with the acquired region of interest. Statistical evaluations were performed to determine how Glass compares with conventionally acquired digital images. All images received good (median 4) and very good ratings (median 5) for all 4 categories. Autopsy images taken by Glass (n=32) received significantly lower ratings than those acquired by DSLR camera (n=17) (region of interest: z=-5.154, P<.001; sharpness: z=-7.898, P<.001; color: z=-4.407, P<.001, brightness: z=-3.187, P=.001). For 110 images of postmortem examinations (Glass: n=54, DSLR camera: n=56), ratings for region of interest (z=-8.390, P<.001) and brightness (z=-540, P=.007) were significantly lower. For interrater reliability, intraclass correlation (ICC) values were good for autopsy (ICC=.723, 95% CI .667-.771, P<.001) and postmortem examination (ICC=.758, 95% CI .727-.787, P<.001). Postmortem examinations performed using Glass took 42.6 seconds longer than those done with the DSLR camera (z=-2.100, P=.04 using Wilcoxon signed rank test). The battery charge of Glass quickly decreased; an average 5.5% (SD 1.85) of its battery capacity was spent per postmortem examination (0.81% per minute or 0.79% per picture). Glass was efficient for acquiring images for documentation in forensic medicine, but the image quality was inferior compared to a DSLR camera. Images taken with Glass received significantly lower ratings for all 4 categories in an autopsy setting and for region of interest and brightness in postmortem examination. The effort necessary for achieving the objectives was higher when using the device compared to the DSLR camera thus extending the postmortem examination duration. Its relative high power consumption and low battery capacity is also a disadvantage. At the current stage of development, Glass may be an adequate tool for education. For deployment in clinical care, issues such as hygiene, data protection, and privacy need to be addressed and are currently limiting chances for professional use.

•Post-mortem CT and autopsy detect cervical spine injuries in different way.•Post-mortem CT more efficiently detects bone fractures than autopsy.•Autopsy more efficiently detects intervertebral injuries than post-mortem CT.•Accurate evaluation for cervical spine injuries requires the use of both methods. To clarify the differences between postmortem CT (PMCT) and autopsy findings in the postmortem detection of cervical spine injuries (CSIs). Our department’s forensic pathology database was searched for CSI cases. In each case, the autopsy data and radiologists’ interpretations were reviewed for the presence of bone fractures and intervertebral injuries. The study included 42 cases. For both bone fractures and intervertebral injuries, no substantial concordance between PMCT and autopsy findings was observed (McNemar’s test: p<0.001 and p<0.001, respectively). Regarding bone fractures, more injuries were detected with CT than with autopsy (CT: 74, autopsy: 23). The percentage of CT-detected fractures that were missed at autopsy (77.0%, 57/74) was higher than the percentage of autopsy-detected fractures missed with CT (26.1%, 6/23). Regarding intervertebral injuries, fewer injuries were detected with CT than with autopsy (CT: 40, autopsy: 80). The percentage of CT-detected injuries that were missed at autopsy (35.0%, 14/40) was lower than the percentage of autopsy-detected injuries that were missed with CT (67.5%, 54/80). A substantial number of CSIs were detected by either PMCT or autopsy alone. Accurate evaluation for CSI requires the use of both methods.

Coronavirus disease 2019 (COVID-19) has emerged as a pandemic for more than 2 years. Autopsy examination is an invaluable tool to understand the pathogenesis of emerging infections and their consequent mortalities. The aim of the current study was to present the lung and heart pathological findings of COVID-19-positive autopsies performed in Jordan. The study involved medicolegal cases, where the cause of death was unclear and autopsy examination was mandated by law. We included the clinical and pathologic findings of routine gross and microscopic examination of cases that were positive for COVID-19 at time of death. Testing for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was confirmed through molecular detection by real-time polymerase chain reaction, serologic testing for IgM and electron microscope examination of lung samples. Seventeen autopsies were included, with male predominance (76.5%), Jordanians (70.6%), and 50 years as the mean age at time of death. Nine out of 16 cases (56.3%) had co-morbidities, with one case lacking such data. Histologic examination of lung tissue revealed diffuse alveolar damage in 13/17 cases (76.5%), and pulmonary microthrombi in 8/17 cases (47.1%). Microscopic cardiac findings were scarcely detected. Two patients died as a direct result of acute cardiac disease with limited pulmonary findings. The detection of SARS-CoV-2 in postmortem examination can be an incidental or contributory finding which highlights the value of autopsy examination to determine the exact cause of death in controversial cases.

The 22q11.2 deletion syndrome (22q11.2 DS) is known as the most common microdeletion syndrome. Due to its variable clinical phenotype, prenatal diagnosis can be challenging. The aim of this retrospective study was to evaluate the clinical course and pregnancy outcome of cases with prenatally diagnosed 22q11.2 deletion syndrome (DS) as well as to evaluate the role of prenatal magnetic resonance imaging (MRI) and postmortem examination. In total, 21 cases who underwent prenatal ultrasound examination and pregnancy care at the Department of Obstetrics and Gynecology at the Medical University of Vienna between 2012 and 2022 were included. The majority of the cases were genetically diagnosed using fluorescent in situ hybridization (FISH). The median gestational age (GA) at genetic diagnosis was 23.0 weeks (IQR 21.4-24.8 weeks). CHDs were detected in all fetuses and the most common extracardiac manifestation was thymus hypo/aplasia followed by genitourinary anomalies. Prenatal magnetic resonance imaging (MRI) revealed additional diagnostic information in three of ten cases. Overall, 14 patients opted for drug-induced TOP, of which 9 cases had a feticide prior to the induction of labor. The majority of craniofacial malformations were only detected by autopsy. In conclusion, the majority of cases prenatally diagnosed with 22q11.2 DS had an absent or hypoplastic thymus noted antenatally in addition to the detected CHD, and almost half of the cases had another extracardiac malformation of predominantly genitourinary origin. Furthermore, prenatal MRIs confirmed previously detected malformations, but only provided additional diagnostic information in three out of ten cases, whereas postmortem examination diagnosed most of the craniofacial anomalies and should always be conducted, serving as an important quality indicator for prenatal imaging.

Tuberculosis (TB) presents a substantial health risk to autopsy staff, given its three to five times higher incidence of TB compared to clinical staff. This risk is notably accentuated in South Korea, which reported the highest TB incidence rate and the third highest TB mortality rate among OECD member countries in 2020. The standard TB diagnostic method, histopathological examination of sputum or tissue for acid-fast bacilli (AFB) using Ziehl-Neelsen staining, demands microscopic examination of slides at 1000× magnification, which is labor-intensive and time-consuming. This article proposes a computer-aided diagnosis (CAD) system designed to enhance the efficiency of TB diagnosis at magnification less than 1000×. By training nine neural networks with images taken from 30 training slides and 10 evaluation slides at 400× magnification, we evaluated their ability to detect . The N model achieved the highest accuracy, with 99.77% per patch and 90% per slide. We discovered that the model could aid pathologists in preliminary TB screening, thereby reducing diagnostic time. We anticipate that this research will contribute to minimizing autopsy staff's infection risk and rapidly determining the cause of death.

Data related to forensic postmortems or autopsies are still mainly captured in hard copy format and archived. This paper-based practice impacts on the practitioner's ability to report on incidence, prevalence, and statistical trends related to cases that are commonly seen in mortuaries in forensic medicine. An autopsy can be used to inform and provide evidence-based knowledge for further research about important issues, including social development and assist in providing statistics and data for public health initiatives for implementation and monitoring. Currently, in forensic medicine and pathology research developments are largely hampered by the inefficient data capturing system which only allows access to basic information while pertinent information is largely recorded manually and is therefore difficult to obtain. There is thus a need to improve the efficiency of the data capturing system in forensic pathology, and this review is intended to inform the choice and decisions of appropriate data capture practices and is being conducted to identify nationally and internationally the current data mining and storage systems in place. The methodology for this scoping review will be guided by the methodological framework for scoping review. The search strategy was developed by the authors, and we will conduct a search from 1 January 2008 of electronic databases (Cochrane Library, Scopus, Web of Science, and Science Direct) and search through WorldCat and PubMed for citations and literature using both keywords and the Medical Subject Headings (MeSH).The electronic search will be supplemented by hand searching references of the included studies and references in journals and websites. All articles will be assessed for eligibility by two reviewers (the primary and secondary authors) and uploaded into EndNote Excel spreadsheet, and duplicates will be identified and removed. The two reviewers (primary and secondary authors) will screen the eligible abstracts and articles against the inclusion criteria, and selection will be on a minimum percentage agreement of 50%. The selection process will be documented by following and using a PRISMA flow diagram. The extracted data will be analyzed and reported in the form of a narrative review with descriptive analysis and text analysis once the data is summarized for description and characterization. The results of this review will identify and describe data capturing, management, and storage practices for use in forensic medicine. It will also review the efficiency of the different data systems and report where possible on the uses of the data system within the forensic medicine and pathology field. Although research ethics approval is not required for this scoping review because the study will not include human or animal participants, the study was submitted for approval to the University of Kwazulu Natal Biomedical Research Ethics Committee and obtained provisional approval. Data will be sourced only from published literature and gray literature. The results will be presented at relevant national and international conferences and published in a peer-reviewed journal. All search results including excluded studies will be added into an addendum in the article and made available for public perusal to therefore ensure transparency and reproducibility.