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Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification. We aim to perform an exhaustive re-analysis of rare variants associated with inherited arrhythmogenic syndromes, which were classified ten years ago, to determine whether their classification aligns with current standards and research findings. Methods: In 2010, the rare variants identified through genetic analysis were classified following recommendations available at that time. Nowadays, the same variants have been reclassified following current American College of Medical Genetics and Genomics recommendations. Findings: Our cohort included 104 cases diagnosed with inherited arrhythmogenic syndromes and 17 postmortem cases in which inherited arrhythmogenic syndromes was cause of death. 71.87% of variants change their classification. While 65.62% of variants were classified as likely pathogenic in 2010, after reanalysis, only 17.96% remain as likely pathogenic. In 2010, 18.75% of variants were classified as uncertain role but nowadays 60.15% of variants are classified of unknown significance. Interpretation: Reclassification occurred in more than 70% of rare variants associated with inherited arrhythmogenic syndromes. Our results support the periodical reclassification and personalized clinical translation of rare variants to improve diagnosis and adjust treatment.

Artificial intelligence needs big data to develop reliable predictions. Therefore, storing and processing health data is essential for the new diagnostic and decisional technologies but, at the same time, represents a risk for privacy protection. This scoping review is aimed at underlying the medico-legal and ethical implications of the main artificial intelligence applications to healthcare, also focusing on the issues of the COVID-19 era. Starting from a summary of the United States (US) and European Union (EU) regulatory frameworks, the current medico-legal and ethical challenges are discussed in general terms before focusing on the specific issues regarding informed consent, medical malpractice/cognitive biases, automation and interconnectedness of medical devices, diagnostic algorithms and telemedicine. We aim at underlying that education of physicians on the management of this (new) kind of clinical risks can enhance compliance with regulations and avoid legal risks for the healthcare professionals and institutions.

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Aim: We examined evidence on infective and noninfective endocarditis obtained from a database of 50,403 clinical autopsies performed at an Italian general hospital between January 1983 and December 2006. Materials and Methods: Out of 814 endocarditis cases, 409 were of infective endocarditis (IE) and 405 non-infective (NIE). The median age at the time of death was 78 years for those with IE and 83 for those with NIE. Data were collected on gender, clinical history, comorbidities, kind of affected valve (nonprosthetic/mechanical/biological), pathological features of endocarditis, endocarditis complications and microbiological agents. Results: The diagnosis of IE was frequently missed and these conditions were often complicated by cardiovascular events. IE was more common among patients with prior valve infection or cardiovascular surgery, while malignancies were frequent comorbidities of NIE. Conclusion: In general, we found several data that differ from those generally present in the scientific literature, and this could be explained by the fact that data on IE and NIE are generally obtained from surgical and clinical databases, while we analysed only autoptic cases.Endocarditis is a common clinical problem characterized by lesions known as vegetations, and is defined as inflammation of the endocardium that mainly, but not exclusively, affects the heart valve leaflets. Historically, endocarditis is classified as infective (IE) and non-infective (NIE) on the basis of whether or not it is caused by infections.NIE can be caused by mechanical stress, chemical agents, immunological factors (Libman-Sacks, post-rheumatic disease, hypereosinophilic syndrome, or systemic lupus erythaematosus), or directly by turbulent blood flow that may mechanically damage the endocardium (non-bacterial thrombotic endocarditis). Moreover, it can be associated with hypercoagulable states or malignancies (nonbacterial thrombotic/marantic endocarditis).From a clinical point of view, NIE and IE have similar signs and symptoms and it is difficult to differentiate between them. Furthermore, they are associated with a consistent risk of misdiagnosis: For example, it is not rare that the hypothesis of health-care associated IE is neglected among elderly patients with multiple comorbidities because of the low specificity of usual clinical presentation (1). The diagnosis can also be completely missed, and in these cases, cardiac and extra-cardiac complications of both IE and NIE can be responsible for unexpected sudden death (2-4).These considerations help to explain why endocarditis is often diagnosed only at autopsy. However, a missed diagnosis of endocarditis is not always due to medical errors: For example, in several cases, the first clinical manifestation of NIE is a lethal stroke or severe systemic embolization, and thus the diagnosis is necessarily made only at autopsy (3).In general, pathologists have a paramount role in this field; even when endocarditis is not the cause of death, it can provide crucial information and hints to the exami...

Background On May 12, 2020, a symposium titled “Liability of healthcare professionals and institutions during COVID-19 pandemic” was held in Italy with the participation of national experts in malpractice law, hospital management, legal medicine, and clinical risk management. The symposium’s rationale was the highly likely inflation of criminal and civil proceedings concerning alleged errors committed by health care professionals and decision makers during the COVID-19 pandemic. Its aim was to identify and discuss the main issues of legal and medicolegal interest and thus to find solid solutions in the spirit of preparedness planning. Methods There were 5 main points of discussion: (A) how to judge errors committed during the pandemic because of the application of protocols and therapies based on no or weak evidence of efficacy, (B) whether hospital managers can be considered liable for infected health care professionals who were not given adequate personal protective equipment, (C) whether health care professionals and institutions can be considered liable for cases of infected inpatients who claim that the infection was transmitted in a hospital setting, (D) whether health care institutions and hospital managers can be considered liable for the hotspots in long-term care facilities/care homes, and (E) whether health care institutions and hospital managers can be considered liable for the worsening of chronic diseases. Results and Conclusion Limitation of the liability to the cases of gross negligence (with an explicit definition of this term), a no-fault system with statal indemnities for infected cases, and a rigorous methodology for the expert witnesses were proposed as key interventions for successfully facing future proceedings.

Introduction/purpose Postmortem computed tomography (PMCT) is a valuable tool for analyzing the death of patients with SARS-CoV-2 infection. The purpose of this study was to investigate the correlation between PMCT lung findings in autopsy cadavers positive for SARS-CoV-2 infection and the severity of COVID-19 lung disease by histopathological analysis. Materials and methodsWe reviewed chest PMCT findings, paying particular attention to the lung parenchyma, in 8 autopsy cases positive for SARS-CoV-2. Correlations between chest PMCT and histopathological findings were assessed. Clinical conditions and comorbidities were also recorded and discussed. The primary cause of death was finally considered. Results In 6/8 cases, pulmonary PMCT findings were massive consolidation (4/8) and bilateral diffuse mixed densities with a crazy-paving pattern (2/8). These cases showed severe pulmonary signs of COVID-19 at histopathological analysis. In the remaining 2/8 cases, pulmonary PMCT findings were scant antideclive ground-glass opacities in prevalent gradient densities attributed to hypostasis. In 4/8 cases with massive consolidations, important comorbidities were noted. In 6/8 cases with severe pulmonary histopathological signs of lung COVID-19, autopsy found that the cause of death was cardiorespiratory failure. In the remaining 2/8 cases, histopathological analysis revealed lung alterations due to edema and some signs of SARS-CoV-2 infection; the cause of death was not attributed to SARS-CoV-2 infection (Table 1). Discussion and conclusion Chest PMCT findings correlate with the severity of COVID-19 lung disease at histopathology examination. According to our results, there may also be a relationship between cause of death and PMCT findings in COVID-19, which must be critically analyzed considering clinical antemortem data.

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