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1.
Diagnostics (Basel) ; 14(7)2024 Mar 22.
Article in English | MEDLINE | ID: mdl-38611588

ABSTRACT

Post mortem hyoid bone fracture findings may be attributable to various factors, including both the onset of acute mechanical asphyxia as it happens in manual strangulation and in charred corpses. In forensic practice, the discovery of corpses burned after death to hide their real cause of death is not uncommon: in these cases, the diagnostic challenge is even greater, as the action of flames is capable of both masking previously generated lesions and/or generating new ones, as occurs for hyoid bone fractures. The case concerns a 76-year-old man found charred in his bedroom. Almost complete body charring made it impossible to evaluate any external damage. Post mortem computed tomography (PMCT) was performed, and an evident bilateral fracture of the greater horn of the hyoid bone was detected. Although the absence of typical charring signs had steered the diagnosis towards post mortem exposure to flames, PMCT proved to be very useful in increasing the accuracy in correctly determining the cause of death. In particular, making use of Maximum Intensity Projection (MIP) hyoid bone reconstructions, it was possible to measure the medial dislocation angle of the fracture fragments and then to establish the applied direction of force, which acted in a lateral-medial way. A manual strangulation diagnosis was confirmed. The increasing importance of performing post mortem radiological exams as a corollary for conventional autopsy has been further confirmed.

2.
Int J Mol Sci ; 25(5)2024 Feb 20.
Article in English | MEDLINE | ID: mdl-38473714

ABSTRACT

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular myocardium, leading to myocardial atrophy. Although the structural changes usually affect the right ventricle, the pathology may also manifest with either isolated left ventricular myocardium or biventricular involvement. As ARVC shows an autosomal dominant pattern of inheritance with variable penetrance, the clinical presentation of the disease is highly heterogeneous, with different degrees of severity and patterns of myocardial involvement even in patients of the same familiar group with the same gene mutation: the pathology spectrum ranges from the absence of symptoms to sudden cardiac death (SCD) sustained by ventricular arrhythmias, which may, in some cases, be the first manifestation of an otherwise silent pathology. An evidence-based systematic review of the literature was conducted to evaluate the state of the art of the diagnostic techniques for the correct post-mortem identification of ARVC. The research was performed using the electronic databases PubMed and Scopus. A methodological approach to reach a correct post-mortem diagnosis of ARVC was described, analyzing the main post-mortem peculiar macroscopic, microscopic and radiological alterations. In addition, the importance of performing post-mortem genetic tests has been underlined, which may lead to the correct identification and characterization of the disease, especially in those ARVC forms where anatomopathological investigation does not show evident morphostructural damage. Furthermore, the usefulness of genetic testing is not exclusively limited to the correct diagnosis of the pathology, but is essential for promoting targeted screening programs to the deceased's family members. Nowadays, the post-mortem diagnosis of ARVC performed by forensic pathologist remains very challenging: therefore, the identification of a clear methodological approach may lead to both a reduction in under-diagnoses and to the improvement of knowledge on the disease.


Subject(s)
Arrhythmogenic Right Ventricular Dysplasia , Humans , Autopsy , Myocardium , Databases, Factual , Death, Sudden, Cardiac
3.
Int J Mol Sci ; 25(2)2024 Jan 20.
Article in English | MEDLINE | ID: mdl-38279275

ABSTRACT

Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be clinically silent, and sudden unexpected death due to malignant arrhythmias may be the first manifestation. Thus, the HCM diagnosis could be performed at a clinical and judicial autopsy and offer useful findings on morphological features; moreover, it could integrate the knowledge on the genetic aspect of the disease. This review aims to systematically analyze the literature on the main post-mortem investigations and the related findings of HCM to reach a well-characterized and stringent diagnosis; the review was performed using PubMed and Scopus databases. The articles on the post-mortem evaluation of HCM by gross and microscopic evaluation, imaging, and genetic test were selected; a total of 36 studies were included. HCM was described with a wide range of gross findings, and there were cases without morphological alterations. Myocyte hypertrophy, disarray, fibrosis, and small vessel disease were the main histological findings. The post-mortem genetic tests allowed the diagnosis to be reached in cases without morpho-structural abnormalities; clinical and forensic pathologists have a pivotal role in HCM diagnosis; they contribute to a better definition of the disease and also provide data on the genotype-phenotype correlation, which is useful for clinical research.


Subject(s)
Cardiomyopathy, Hypertrophic , Humans , Cardiomyopathy, Hypertrophic/diagnosis , Cardiomyopathy, Hypertrophic/genetics , Cardiomyopathy, Hypertrophic/pathology , Genetic Testing , Arrhythmias, Cardiac/genetics , Autopsy , Fibrosis , Phenotype , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/pathology
4.
Life (Basel) ; 14(1)2024 Jan 05.
Article in English | MEDLINE | ID: mdl-38255706

ABSTRACT

Kounis syndrome (KS) is an acute coronary syndrome triggered by allergic or hypersensitivity reactions. Incidence rates vary, with studies reporting 19.4 per 100.000 among all admissions and 3.4% among allergy patients. This review explores the expanding understanding of KS, encompassing various manifestations, and focusing on both clinical data and forensic findings useful in performing a diagnosis. The pathophysiology of this syndrome involves a complex interplay between allergic reactions and the cardiovascular system. Mast cell activation, histamine release, leukotrienes, cytokines, and platelet activation can contribute to coronary events. Three types of classification systems (allergic angina, allergic myocardial infarction, allergic stent thrombosis) aid in categorizing presentations. The diagnosis of KS relies on clinical presentation, laboratory findings, and imaging. Postmortem assessment of KS is based on the integration of circumstantial data, autopsy, and histological findings. Biochemical and immunohistochemical analyses also contribute to postmortem diagnosis. In conclusion, a combined, multidisciplinary approach should be used to ease the diagnostic process, which is crucial for forensic practitioners in confirming KS occurrence.

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