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Journal of the American Heart... Sep 2023Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly...
Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4. SUDC is rarer than SIDS, and although cardiogenetic testing (molecular autopsy) identifies an underlying cause in a fraction of SIDS, less is known about SUDC. Methods and Results Seventy-seven SIDS and 16 SUDC cases underwent molecular autopsy with 25 definitive-evidence arrhythmia-associated genes. In 18 cases, another 76 genes with varying degrees of evidence were analyzed. Parents were offered cascade screening. Double-blind review of clinical-genetic data established genotype-phenotype correlations. The yield of likely pathogenic variants in the 25 genes was higher in SUDC than in SIDS (18.8% [3/16] versus 2.6% [2/77], respectively; =0.03), whereas novel/ultra-rare variants of uncertain significance were comparably represented. Rare variants of uncertain significance and likely benign variants were found only in SIDS. In cases with expanded analyses, likely pathogenic/likely benign variants stemmed only from definitive-evidence genes, whereas all other genes contributed only variants of uncertain significance. Among 24 parents screened, variant status and phenotype largely agreed, and 3 cases positively correlated for cardiac channelopathies. Genotype-phenotype correlations significantly aided variant adjudication. Conclusions Genetic yield is higher in SUDC than in SIDS although, in both, it is contributed only by definitive-evidence genes. SIDS/SUDC cascade family screening facilitates establishment or dismissal of a diagnosis through definitive variant adjudication indicating that anonymity is no longer justifiable. Channelopathies may underlie a relevant fraction of SUDC. Binary classifications of genetic causality (pathogenic versus benign) could not always be adequate.
Topics: Child, Preschool; Humans; Autopsy; Channelopathies; Heart; Physical Examination; Sudden Infant Death
PubMed: 37589201
DOI: 10.1161/JAHA.122.029100 -
Military Medicine Jul 2023The incidence of blast injuries on the battlefield has risen over the last several decades. In order to improve prevention and treatment, it is essential to understand...
INTRODUCTION
The incidence of blast injuries on the battlefield has risen over the last several decades. In order to improve prevention and treatment, it is essential to understand the severity and bodily distribution of these injuries. This study aims to characterize blast injury patterns among IDF fatalities.
MATERIALS AND METHODS
This is a descriptive, retrospective study on postmortem reports of military-blast fatalities between the years 1982 and 2021. Body regions injured according to the Abbreviated Injury Scale (AIS) were described. The frequency of body region injury combinations was mapped, and the correlation between injured body regions was calculated using Pearson's coefficient. Analysis of a subgroup with a postmortem computed tomography (CT-PM) or autopsy was performed, describing severe (AIS ≥ 3) injury patterns.
RESULTS
Overall, 222 fatalities suffered from blast injury, with most injuries affecting the upper and lower extremities (63.7% and 66.5%, respectively), followed by the head (57.1%) and the thorax (56.6%). The median number of injured body regions was 4 (interquartile range, 2-5). The most frequent injury combinations were the upper and lower extremities (51%), the upper extremities and the thorax (45%), and the lower extremities and the thorax (41%). In all, 47/222 (21.2%) fatalities had a documented autopsy or CT-PM report. Among the fatalities with CT-PM or autopsy, the head (63.8%) and the thorax (57.4%) were most frequently severely injured (AIS ≥ 3).
CONCLUSIONS
Among blast fatalities in the military setting, the extremities were most commonly injured. However, data suggest that the head and thorax are more likely to sustain severe blast injuries resulting in mortality. Blast injuries in this cohort were characterized by concomitant involvement of several regions. Development of protective gear to minimize the multisystem injuries inflicted by blast injuries is warranted and should be focused on distinct types and anatomical distribution of severe blast injuries as reported in this study.
LEVEL OF EVIDENCE
Level III, Retrospective analysis.
Topics: Humans; Blast Injuries; Retrospective Studies; Male; Israel; Military Personnel; Adult; Female; Abbreviated Injury Scale; Tomography, X-Ray Computed; Autopsy
PubMed: 36205252
DOI: 10.1093/milmed/usac280 -
Clinical Microbiology and Infection :... May 2024Fungal infections are common in HIV-infected individuals and significantly contribute to mortality. However, a substantial number of cases are undiagnosed before death. (Review)
Review
BACKGROUND
Fungal infections are common in HIV-infected individuals and significantly contribute to mortality. However, a substantial number of cases are undiagnosed before death.
OBJECTIVE
To determine the frequency of fungal pathogens in autopsy studies of people who died with HIV in Africa.
METHODS
We conducted a scoping review of autopsy studies conducted in Africa.
DATA SOURCES
PubMed, Scopus, Web of Science, Embase, Google Scholar, and African Journal Online.
STUDY ELIGIBILITY CRITERIA
The review encompasses studies published from inception to September 2023, and no language restrictions were imposed during the search process. We included studies that reported histopathological or microbiological evidence for the diagnosis of fungal infections and other pathogens.
DATA SYNTHESIS
Data were summarized using descriptive statistics and no meta-analysis was performed.
RESULTS
We examined 30 articles reporting studies conducted between 1991 and 2019, encompassing a total of 13 066 HIV-infected decedents across ten African countries. In five studies, the autopsy type was not specified. Among those studies with specified autopsy types, 20 involved complete diagnostic autopsies, whereas 5 were categorized as partial or minimally invasive autopsies. There were 2333 pathogens identified, with 946 (40.5%) being mycobacteria, 856 (36.7%) fungal, 231 (3.8%) viral, 208 (8.9%) parasitic, and 92 (3.9%) bacterial. Of the 856 fungal pathogens identified, 654 (28.0%) were Cryptococcus species, 167 (7.2%) Pneumocystis jirovecii, 16 (0.69%) Histoplasma species, 15 (0.64%) Aspergillus species, and 4 (0.17%) Candida species. Other major non-fungal pathogens identified were cytomegalovirus 172 (7.37%) and Toxoplasma gondii 173 (7.42%).
CONCLUSIONS
Invasive fungal infections occur in over one-third of people who succumb to HIV in Africa. In addition to cryptococcosis and Pneumocystis jirovecii pneumonia, integrating other priority fungal pathogen detection and management strategies into the broader framework of HIV care in Africa is recommended. This involves increasing awareness regarding the impact of fungal infections in advanced HIV disease and strengthening diagnostic and treatment capacity.
Topics: Humans; Autopsy; Africa; HIV Infections; Mycoses; Fungi; AIDS-Related Opportunistic Infections
PubMed: 38145865
DOI: 10.1016/j.cmi.2023.12.016 -
Genes Oct 2023Sudden cardiac death (SCD) is one of the leading causes of death in the world and for this reason it has attracted the attention of numerous researchers in the field of... (Review)
Review
Sudden cardiac death (SCD) is one of the leading causes of death in the world and for this reason it has attracted the attention of numerous researchers in the field of legal medicine. It is not easy to determine the cause in a SCD case and the available methods used for diagnosis cannot always give an exhaustive answer. In addition, the molecular analysis of genes does not lead to a clear conclusion, but it could be interesting to focus attention on the expression level of miRNAs, a class of non-coding RNA of about 22 nucleotides. The role of miRNAs is to regulate the gene expression through complementary binding to 3'-untraslated regions of miRNAs, leading to the inhibition of translation or to mRNA degradation. In recent years, several studies were performed with the aim of exploring the use of these molecules as biomarkers for SCD cases, and to also distinguish the causes that lead to cardiac death. In this review, we summarize experiments, evidence, and results of different studies on the implication of miRNAs in SCD cases. We discuss the different biological starting materials with their respective advantages and disadvantages, studying miRNA expression on tissue (fresh-frozen tissue and FFPE tissue), circulating cell-free miRNAs in blood of patients affected by cardiac disease at high risk of SCD, and exosomal miRNAs analyzed from serum of people who died from SCD.
Topics: Humans; Death, Sudden, Cardiac; MicroRNAs; Autopsy; Biomarkers; RNA Stability
PubMed: 37895303
DOI: 10.3390/genes14101954 -
International Journal of Legal Medicine Nov 2023Forensic pathologists may use 3D prints as demonstrative aids when providing expert testimony in court of law, but the effects remain unclear despite many assumed...
Forensic pathologists may use 3D prints as demonstrative aids when providing expert testimony in court of law, but the effects remain unclear despite many assumed benefits. In this qualitative study, the effects of using a 3D print, demonstrating a blunt force skull fracture, in court were explored by thematic analysis of interviews with judges, prosecutors, defence counsels, and forensic pathologists with the aim of improving the expert testimony. Five semi-structured focus groups and eight one-to-one interviews with a total of 29 stakeholders were transcribed ad verbatim and analysed using thematic analysis. The study found that a highly accurate 3D print of a skull demonstrated autopsy findings in detail and provided a quick overview, but sense of touch was of little benefit as the 3D print had different material characteristics than the human skull. Virtual 3D models were expected to provide all the benefits of 3D prints, be less emotionally confronting, and be logistically feasible. Both 3D prints and virtual 3D models were expected to be less emotionally confronting than autopsy photos. Regardless of fidelity, an expert witness was necessary to translate technical language and explain autopsy findings, and low-fidelity models may be equally suited as demonstrative aids. The court infrequently challenged the expert witnesses' conclusions and, therefore, rarely had a need for viewing autopsy findings in detail, therefore rarely needing a 3D print.
Topics: Humans; Printing, Three-Dimensional; Expert Testimony; Skull Fractures; Focus Groups; Male; Female; Autopsy; Interviews as Topic; Qualitative Research; Forensic Pathology; Adult; Skull
PubMed: 37391670
DOI: 10.1007/s00414-023-03054-6 -
Prenatal Diagnosis Jan 2024To determine the learning curve of fetal postmortem ultrasound (PMUS) and evaluate the evolution of its diagnostic performance over the past 8 years. (Randomized Controlled Trial)
Randomized Controlled Trial
OBJECTIVE
To determine the learning curve of fetal postmortem ultrasound (PMUS) and evaluate the evolution of its diagnostic performance over the past 8 years.
METHODS
PMUS was performed by two fetal medicine specialists and two experts on 100 unselected fetuses of 12-38 weeks of gestation in a prospective, double-blind manner. 21 pre-defined internal structures were analyzed consecutively by the trainee alone and the expert, with a comparison of diagnosis and immediate feedback. The learning curves for examination duration, non-recognition of structures and final diagnoses were computed using cumulative summation analysis. Secondly, the expert PMUS diagnostic accuracy using autopsy as the gold standard was compared to the previously published data.
RESULTS
The trainees reached expert level of PMUS at 28-36 cases for examination duration (12.1 ± 5.2 min), non-diagnostic rate (6.5%, 137/2100), and abnormality diagnosis. In a group of 33 fetuses ≥20 weeks who had an autopsy, the experts PMUS performance was improved after 8 years with a reduction of all organs non-diagnostic rate (6.5 %VS 11.4%, p < 0.01) and higher sensitivity for the heart (100% VS 40.9%, p < 0.01) and the abdomen (100%VS 56.5%, p < 0.05).
CONCLUSION
PMUS offers a short learning curve for fetal medicine specialists and on-going improvement of diagnostic accuracy over time.
Topics: Female; Humans; Gestational Age; Learning Curve; Prospective Studies; Fetus; Autopsy
PubMed: 38117025
DOI: 10.1002/pd.6482 -
Pathologie (Heidelberg, Germany) May 2024Autopsies have long been considered the gold standard for quality assurance in medicine, yet their significance in basic research has been relatively overlooked. The... (Review)
Review
BACKGROUND
Autopsies have long been considered the gold standard for quality assurance in medicine, yet their significance in basic research has been relatively overlooked. The COVID-19 pandemic underscored the potential of autopsies in understanding pathophysiology, therapy, and disease management. In response, the German Registry for COVID-19 Autopsies (DeRegCOVID) was established in April 2020, followed by the DEFEAT PANDEMIcs consortium (2020-2021), which evolved into the National Autopsy Network (NATON).
DEREGCOVID
DeRegCOVID collected and analyzed autopsy data from COVID-19 deceased in Germany over three years, serving as the largest national multicenter autopsy study. Results identified crucial factors in severe/fatal cases, such as pulmonary vascular thromboemboli and the intricate virus-immune interplay. DeRegCOVID served as a central hub for data analysis, research inquiries, and public communication, playing a vital role in informing policy changes and responding to health authorities.
NATON
Initiated by the Network University Medicine (NUM), NATON emerged as a sustainable infrastructure for autopsy-based research. NATON aims to provide a data and method platform, fostering collaboration across pathology, neuropathology, and legal medicine. Its structure supports a swift feedback loop between research, patient care, and pandemic management.
CONCLUSION
DeRegCOVID has significantly contributed to understanding COVID-19 pathophysiology, leading to the establishment of NATON. The National Autopsy Registry (NAREG), as its successor, embodies a modular and adaptable approach, aiming to enhance autopsy-based research collaboration nationally and, potentially, internationally.
Topics: Humans; COVID-19; Germany; Autopsy; Registries; Pandemics; SARS-CoV-2
PubMed: 38427066
DOI: 10.1007/s00292-024-01307-8 -
BMJ Global Health Dec 2023Causes of deaths often go unrecorded in lower income countries, yet this information is critical. Verbal autopsy is a questionnaire interview with a family member or...
INTRODUCTION
Causes of deaths often go unrecorded in lower income countries, yet this information is critical. Verbal autopsy is a questionnaire interview with a family member or caregiver to elicit the symptoms and circumstances preceding a death and assign a probable cause. The social and cultural aspects of verbal autopsy have gotten less attention than the technical aspects and have not been widely explored in South and Southeast Asia settings.
METHODS
Between October 2021 and March 2023, prior to implementing a verbal autopsy study at rural sites in Bangladesh, Cambodia, Laos, Myanmar and Thailand, focus group discussions were conducted with village heads, religious leaders and community members from varied demographic backgrounds. Thematic analysis elucidated customs and traditional views surrounding death to understand local ethnocultural sensitivities.
RESULTS
We found that death rituals varied greatly among religions, ethnicities and by socioeconomic status. Mourning periods were reported to last 3-100 days and related to the cause of death, age and how close the deceased person was to the family. Participants advised that interviews should happen after mourning periods to avoid emotional distress, but not long after so as to avoid recall bias. Interviewers should be introduced to respondents by a trusted local person. To provide reassurance and confidentiality, a family's residence is the preferred interview location. Interview questions require careful local language translation, and community sensitisation is important before data collection.
CONCLUSION
Verbal autopsy is acceptable across a wide range of cultural settings in Southeast Asia, provided that local norms are preidentified and followed.
Topics: Humans; Cause of Death; Autopsy; Family; Surveys and Questionnaires; Asia, Southeastern
PubMed: 38081771
DOI: 10.1136/bmjgh-2023-013462 -
Ulusal Travma Ve Acil Cerrahi Dergisi =... Mar 2024Traumatic head injuries (THIs) are one of the major causes of death in forensic cases. The aim of this study was to investigate the characteristics of patients with...
BACKGROUND
Traumatic head injuries (THIs) are one of the major causes of death in forensic cases. The aim of this study was to investigate the characteristics of patients with fatal THIs.
METHODS
In this study, a total of 311 patients with fatal THIs, who underwent postmortem examinations and/or autopsies, were retrospectively analyzed. Cases were evaluated based on sex, age group, incident origin, cause of the incident, presence of skull fracture, type of fractured bone (if any), fracture localization and pattern, presence and type of intracranial lesion (if any), and cause of death.
RESULTS
Out of the patients, 242 (77.8%) were male and 69 (22.2%) were female. Accidents accounted for 235 (75.6%) of the incidents, with in-vehicle traffic accidents causing 117 (37.6%). In 221 cases (71.1%), intracranial lesions and skull fractures were observed together. The most common fractures were base fractures (171 cases) and temporal bone fractures (153 cases). The rate of intracranial hemorrhage was lower in the adult age group (69.7%) compared to the older age group (92.6%).
CONCLUSION
The results obtained in this study indicate that the cause of the incident, type of fracture, presence of skull base fracture, and multiple skull fractures increase the likelihood of fatalities. The occurrence of skull fractures reduces intracranial pressure, thereby decreasing the incidence of intracranial lesions. The development and effective enforcement of road traffic safety policies and regulations will reduce the incidence of fatalities.
Topics: Adult; Humans; Male; Female; Aged; Retrospective Studies; Craniocerebral Trauma; Skull Fractures; Incidence; Autopsy; Accidents, Traffic
PubMed: 38506383
DOI: 10.14744/tjtes.2024.32463 -
Irish Journal of Medical Science Oct 2023A difficult question in autopsy practice is whether intracranial haemorrhage has resulted from or brought about a fall.
INTRODUCTION
A difficult question in autopsy practice is whether intracranial haemorrhage has resulted from or brought about a fall.
MATERIAL AND METHODS
To address this we undertook a retrospective study of all autopsy reports (N = 2126) complied over a 10 year period (2009-2018). Of 720 patients who underwent a comprehensive post mortem neuropathologic examination we found 226 patients who had a history of a fall.
RESULTS
Of the 226 with a history of fall, 175 (79%) had an intracranial haemorrhage which was classified as truamatic (n = 134, 77%) or spontaneous (n = 41, 23%. Within the traumatic group, falls from a standing height (51%) were more common than falls involving stairs (31%) or falls from a height (12%). Cerebral contusional injury (51%) and subdural haemorrhage (45%) were the most common type of haemorrhage in the traumatic group. In the spontaneous haemorrhage group cerebral amyloid angiopathy (49%) was the commonest detected cause and was typically lobar in distribution).
CONCLUSION
We are of the view that a comprehensive analysis of fatal falls with intracranial haemorrhage warrants a detailed neuropathologic examination as part of the overall death analysis.
Topics: Humans; Retrospective Studies; Intracranial Hemorrhages; Autopsy
PubMed: 36534315
DOI: 10.1007/s11845-022-03222-4