Carlo Previderè, Serena Bonin, Calogero Cuttaia, Gianmarco Argentiero, Tommaso Livieri, Giovanni Cecchetto, Antonio Oliva, Paolo Fattorini
{"title":"Are pre-analytical factors fully considered in forensic FFPE molecular analyses? A systematic review reveals the need for standardised procedures.","authors":"Carlo Previderè, Serena Bonin, Calogero Cuttaia, Gianmarco Argentiero, Tommaso Livieri, Giovanni Cecchetto, Antonio Oliva, Paolo Fattorini","doi":"10.1007/s00414-025-03480-8","DOIUrl":"https://doi.org/10.1007/s00414-025-03480-8","url":null,"abstract":"<p><p>The need for molecular analyses has become increasingly common in the forensic sciences, particularly in forensic pathology, to better shape the causes of death. This approach is called the \"molecular autopsy,\" where conventional medico-legal findings are often enhanced with specific molecular tests to provide reliable clinical and forensic diagnoses. In this context, FFPE (Formalin-Fixed Paraffin-Embedded) tissue samples collected during forensic autopsies are the only available specimens in retrospective studies for molecular DNA and/or RNA analyses. It is well known that pre-analytical parameters such as the agonal time, the PMI (Post-Mortem Interval), the fixation procedures, and the FFPE ageing and storage conditions can deeply impact the quality and quantity of the recovered nucleic acids, thus influencing the reliability of the downstream molecular tests. In the present study, we reviewed the recent forensic literature to establish whether these parameters are reported. Our survey showed that up to 34.9% and 40.5% of the 50 selected studies on DNA and RNA, respectively, reported the pre-analytical parameters mentioned above. Many publications did not report the length of agony (if any), which is an important parameter in RNA-based studies and estimations of the PMI; in addition, even relevant information on formalin tissue fixation procedures was often missing, thus impairing any critical evaluation of the PCR-based results. To address these issues, we propose the use of a simple form we set up to be filled out by Forensic Pathologists, where each pre-analytical step concerning the tissue samples collected during autopsy is accurately described and reported. In our opinion, this standardization will help the forensic community compare and evaluate the results of different molecular tests, thus increasing the reliability of the molecular results in forensics.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ugo Da Broi, Francesco Simonit, Maurizio Perogio, Daniela Visentini, Federico Reccardini, Rexson Tse, Jack Garland, Benjamin Ondruschka, Lorenzo Desinan
{"title":"Fatal anaphylactic shock due to hymenoptera venom in a farmer suffering from indolent systemic mastocytosis. The comparative diagnostic relevance of perimortem serum tryptase levels.","authors":"Ugo Da Broi, Francesco Simonit, Maurizio Perogio, Daniela Visentini, Federico Reccardini, Rexson Tse, Jack Garland, Benjamin Ondruschka, Lorenzo Desinan","doi":"10.1007/s00414-025-03487-1","DOIUrl":"https://doi.org/10.1007/s00414-025-03487-1","url":null,"abstract":"<p><p>Hymenoptera anaphylaxis led to the death of a bee and wasp venom sensitized 41-year-old man suffering from systemic indolent mastocytosis. While at work in a vineyard, the man suffered a serious anaphylactic crisis and cardiovascular arrest; despite ongoing attempts of resuscitation, he died in hospital 12 h after being stung. Autopsy confirmed that death was due to post-anoxic brain damage, cardiovascular shock, disseminated intravascular coagulation (DIC) and multi-organ failure (MOF). ICU blood samples drawn before the patient's death from the distal extremity of the pulmonary catheter revealed central blood tryptase levels of 8955 ng/mL; samples drawn 6 days after death, at autopsy, confirmed anaphylaxis diagnostic central blood total tryptase levels (4977 ng/mL) and peripheral blood levels (319 ng/mL); IgE levels in ICU blood sample suggested that the farmer was a responder to venom immunoteraphy (VIT) for Apis Mellifera (IgE 0.44 kUI/L) but not for Polistes Dominulus (IgE 3.13 kUI/L) yet. The comparison of perimortem laboratory results was crucial, in association with autopsy findings and circumstantial data, in ascertaining that death was caused by a wasp venom anaphylactic reaction, with key findings being: 1) Significantly high pre-mortem (8955 ng/mL) and post-mortem (4977 ng/mL) central blood tryptase levels. 2) High post-mortem peripheral blood tryptase levels (319 ng/mL). 3) High pre-mortem central blood IgE antibodies against Polistes Dominulus.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Katarzyna Palacz-Ziółek, Monika Krzyżanowska, Marcin Kadej
{"title":"A multi-level overview of the hair decomposition process.","authors":"Katarzyna Palacz-Ziółek, Monika Krzyżanowska, Marcin Kadej","doi":"10.1007/s00414-025-03474-6","DOIUrl":"https://doi.org/10.1007/s00414-025-03474-6","url":null,"abstract":"<p><p>The process of hair fibre degradation is still not well studied. The first group of decompositional alterations are those caused by an external factor - the action of other organisms or environment. The main groups degrading this biological material include microorganisms such as bacteria, Micromycetes and invertebrates. The mechanism of post-mortem root banding is not well known. It is presumed to be caused by external factors (microorganisms, staining by decaying body), but also internal factors (decomposition of the hair matrix). Other degradative changes described in the literature include the breakdown of proteins (mainly keratin - the main building block of hair), photodegradation, which occurs due to the excitation of melanin radicals and elemental composition during hair decomposition. The aim of this research is to extend and systematise the knowledge of hair decomposition, in particular regarding these degradative changes, and to identify gaps and new directions for research in this field. The publications cited in this study, along with the analyses performed, indicate that hair is a promising biological material with potential applications in various fields, including forensics, archaeology, industry, and ecology. In particular, hair can be valuable for estimating post-mortem interval (PMI), as well as for genetic studies, toxicology, and life history analysis. However, key research gaps remain, notably the lack of comprehensive studies on hair decomposition and the absence of standardized, validated methods that could be widely implemented in forensic laboratories and industry.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Katarzyna Michaud, Cristina Basso, Hans H de Boer, Tony Fracasso, Monica de Gaspari, Carla Giordano, Xiaofei Li, Joaquin Lucena, Pilar Molina, Sarah Parsons, Mary N Sheppard, Allard C van der Wal
{"title":"Ischemic and non-ischemic myocardial injuries at autopsy- an overview for forensic pathologists.","authors":"Katarzyna Michaud, Cristina Basso, Hans H de Boer, Tony Fracasso, Monica de Gaspari, Carla Giordano, Xiaofei Li, Joaquin Lucena, Pilar Molina, Sarah Parsons, Mary N Sheppard, Allard C van der Wal","doi":"10.1007/s00414-025-03479-1","DOIUrl":"https://doi.org/10.1007/s00414-025-03479-1","url":null,"abstract":"<p><p>Cardiovascular diseases are major causes of morbidity and death worldwide, and most cardiac deaths are related to ischemic injury of the myocardium (myocardial infarction). As underlined in the current clinical definition and classification of myocardial infarctions, not all myocardial injuries are due to ischemia: irreversible injury, ending in necrosis, can be induced also by various other factors, such as infections, immune disorders, physical and chemical agents, and trauma. This is supported by clinical studies showing that elevated serum levels of cardiac troponins, as a measure of myocardial damage, are also a common finding in the non-ischemic types of myocardial injury. Forensic pathologists confronted with autopsy findings suggestive of myocardial injury should therefore realize that both ischemic and non-ischemic forms of myocardial death can be observed, and not only in natural but also non-natural deaths (intoxications, asphyxia, traumatic and iatrogenic deaths, and others). Distinguishing these different types of injuries and underlying diseases or circumstances of death is critical, not only to determine the cause and mechanism of death, but also to help investigate often challenging medico-legal scenarios. This article reviews the broad spectrum of ischemic and non-ischemic myocardial injuries in natural and violent deaths. From this perspective we propose a diagnostic approach to myocardial injuries in a forensic pathology context.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fabiano Riva, Daan Wintermans, Stefan Schaufelbühl, Nadine Fuchs, Wim Kerkhoff
{"title":"From digital to physical model: the use of 3D-printed models in wound ballistic reconstruction.","authors":"Fabiano Riva, Daan Wintermans, Stefan Schaufelbühl, Nadine Fuchs, Wim Kerkhoff","doi":"10.1007/s00414-025-03475-5","DOIUrl":"https://doi.org/10.1007/s00414-025-03475-5","url":null,"abstract":"<p><p>Synthetic models (also called \"surrogates\") simulating human tissues are widely used in wound ballistics. Although there are a large number of commercial models showing interesting properties, these are limited to generic shapes. The result of the interaction between the projectile and the target varies based on several parameters; therefore, using a case-specific, custom-shaped synthetic model would enhance the accuracy of the findings. For this purpose, the authors created, based on Post-Mortem Computed Tomography (PMCT) measurements, case specific 3D-printed synthetic models. The first ballistic tests were performed on simple plates printed with different materials and compared against polyurethan Synbone® products in order to select the most suited materials for synthetic head models. Further tests were realised on head models printed with PLA (polylactic acid), PETG (polyethylene terephthalate glycol-modified) and TPU (thermoplastic polyurethane) polymers as well as on two head models composed of powder and resin. The bullet's behaviour, its deformation, the wound channel and other qualitative aspects were directly compared to the findings of the real case reported in Riva et al in Int J Legal Med 135:2567-2579, 2021, as well as to the \"open shape\" head model created by Riva et al in Forensic Sci Int 294:150-159, 2019. Finally, although the results of this study did not completely fulfil the requirements to simulate human bones, its concept in reproducing case specific head models with easily available 3D printing materials, is very promising.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nelly Alexandra Gómez, Ana Patricia Robles Nieto, Ginna Chacón, Rocio Lizarazo, Thore Egeland
{"title":"A crime case involving a mixture of three individuals solved using a sample from the daughter of the person of interest.","authors":"Nelly Alexandra Gómez, Ana Patricia Robles Nieto, Ginna Chacón, Rocio Lizarazo, Thore Egeland","doi":"10.1007/s00414-025-03472-8","DOIUrl":"https://doi.org/10.1007/s00414-025-03472-8","url":null,"abstract":"<p><p>A forensic genetics laboratory may well receive requests that are out of the ordinary and pose challenges like the one presented in this case. A mixture from three individuals was analysed from a crime scene. Reference samples were obtained from two individuals. The Person Of Interest (POI) was not available, only a putative daughter. The analysis of Y and X-STR markers indicated that the contributors to the bloodstain mixture were two males and one female. The hypotheses for the calculation of the Likelihood Ratio (LR) were specified and evaluated using autosomal STR markers. The calculations were done using the open and freely available programs relMix and EuroFormix. The software relMix can deal with arbitrary family relationships between contributors while EuroFormix only accommodates pairwise relationships. In this case both programs were applicable. EuroFormix models peak heights resulting in higher LR, as expected. Ultimately, results from both programs identified the POI, leading to the resolution of the case.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mieszko Olczak, Łukasz A Poniatowski, Agnieszka Siwińska, Magdalena Kwiatkowska, Albert Acewicz
{"title":"Elevated serum and cerebrospinal fluid levels of the synaptophysin and neurogranin with its altered brain expression in the early phase of traumatic brain injury as a potential marker of synaptic injury.","authors":"Mieszko Olczak, Łukasz A Poniatowski, Agnieszka Siwińska, Magdalena Kwiatkowska, Albert Acewicz","doi":"10.1007/s00414-025-03481-7","DOIUrl":"https://doi.org/10.1007/s00414-025-03481-7","url":null,"abstract":"<p><p>Traumatic brain injury (TBI) is a significant contributor to mortality and is frequently linked to forensic and criminological inquiries. In the context of scientific and clinical progress, there is a continual need to explore new bioassays and data analysis methods for use in TBI diagnostics in both ante- and post-mortem individuals. Predominantly intra- and extra-synaptic proteins, such as synaptophysin (SYP) and neurogranin (NRGN) were to date potentially investigated as markers for TBI regarding their usefulness as a set of reliable biomarkers. This study aimed to elucidate and identify if elevated SYP and NRGN concentration levels in biofluids such as serum and CSF are seen in cases of TBI in a population-based autopsy screening. An additional comparative examination of the SYP and NRGN protein expression in the obtained brain tissue by performing immunohistochemical staining was done. The study was carried out using cases (n = 20) of severe head injury suspected as the cause of death and control cases (n = 20) of sudden death in the mechanism of cardiopulmonary failure. The biofluids, such as serum and cerebrospinal fluid (CSF) were collected within ∼24 h after death and compared using ELISA test. Brain specimens were similarly collected during forensic autopsies. In our study, we observed the elevated concentration levels of SYP and NRGN in serum and CSF. In anti-SYP staining of the frontal cortex, a significant, generalized reduction in the reaction was observed, within neurons and neuropil in the head injury group. In anti-NRGN staining of the frontal cortex, a significant, generalized homogenization of the reaction was observed both within the neuronal bodies and their axons. The possible implementation of synaptic biomarker assays offers an interesting and novel tool for investigation and research regarding TBI diagnosis and pathogenesis. This surrogate synatpic assay could be useful in clinical prognosis and risk calculation of non-fatal cases of TBI, regarding the development of neurodegenerative conditions of TBI individuals.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lorenz Markus Bell, Markus Große Perdekamp, Ulrike Schmidt, Vanessa Thoma
{"title":"Bodies bounce - deflection of bodies following first ground impact after falls from height.","authors":"Lorenz Markus Bell, Markus Große Perdekamp, Ulrike Schmidt, Vanessa Thoma","doi":"10.1007/s00414-025-03484-4","DOIUrl":"https://doi.org/10.1007/s00414-025-03484-4","url":null,"abstract":"<p><p>Forensic examination of a scene where two bodies were found after a fall from a high-rise apartment building revealed a distinct tissue imprint resembling facial contours on the asphalt between the two bodies as well as a laceration on the back of the head and an abrasion on the forehead of one body. Tissue imprints located away from the positions of the bodies can indicate manipulation of the finding scene and injuries in opposing body regions at least two distinct blunt traumas. Initial assessment ruled out intermediate contacts with the building, pointing instead to a significant horizontal deflection of the bodies after the initial impact on the ground followed by a second impact. A review of the existing literature on falls from height was conducted, which provided limited information on the possibility of a body's deflection after fall from height. Detailed investigations into the biomechanical relevance of sequences following that impact are rare. In contrast, surveillance video footage from the presented case shows the deflection of the corpses by as much as 1.5 m after initial impact, followed by a second impact. In combination with the autopsy results this provided a good explanation for the unusual forensic findings and unique biomechanical insights. It demonstrates that, depending on various factors like the impacted body region, ground structure and height of fall, a body can be significantly deflected from the initial impact region, resulting in a second impact and sometimes forensically misleading injury patterns.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Angela Silva-Bessa, Stuart Ramage, Maria Teresa Ferreira, Ricardo Jorge Dinis-Oliveira, Shari L Forbes, Lorna Dawson
{"title":"Exploring human hair degradation: A preliminary study for estimating time-since-death.","authors":"Angela Silva-Bessa, Stuart Ramage, Maria Teresa Ferreira, Ricardo Jorge Dinis-Oliveira, Shari L Forbes, Lorna Dawson","doi":"10.1007/s00414-025-03476-4","DOIUrl":"https://doi.org/10.1007/s00414-025-03476-4","url":null,"abstract":"<p><p>Postmortem interval (PMI) estimation is a challenging task in forensic investigations. PMI assessment frequently requires the application of the currently available methods which can lead to unsatisfactory results due to the poor accuracy of time interval estimation. To address these concerns, the present study aimed to evaluate whether there is a correlation between human hair proteolysis and PMI. Scalp hair samples of three living donors and eleven individuals exhumed from different burial types from Portuguese cemeteries were analysed by ATR-FTIR (attenuated total reflectance - Fourier-transform infrared). Four band areas and three hair degradation indices were considered in the 2000-1000 cm<sup>-1</sup> spectral region. When analysing the entire dataset (i.e., 126 infrared spectra) - and when separating and analysing the spectroscopic data by burial type - the ratio between amide II (∼1550 cm<sup>-1</sup>) and S = O and SO<sub>3</sub> combined (∼1074 cm<sup>-1</sup> and ∼1043 cm<sup>-1</sup>, respectively) suggests there is a correlation between hair proteolysis and PMI (p < 0.05). Nevertheless, it is recommended that a larger dataset is required to confirm the preliminary results obtained in this study and to explore how this correlation can be used to estimate PMI in forensic casework.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fabrice Dedouit, Mathilde Ducloyer, Jamie Elifritz, Natalie L Adolphi, Grace Wong Yi-Li, Summer Decker, Jonathan Ford, Yanko Kolev, Michael Thali
{"title":"The current state of forensic imaging - recommended radiological tools and international guidelines.","authors":"Fabrice Dedouit, Mathilde Ducloyer, Jamie Elifritz, Natalie L Adolphi, Grace Wong Yi-Li, Summer Decker, Jonathan Ford, Yanko Kolev, Michael Thali","doi":"10.1007/s00414-025-03465-7","DOIUrl":"https://doi.org/10.1007/s00414-025-03465-7","url":null,"abstract":"<p><p>The last few decades have seen the emergence of forensic imaging, both clinical and post-mortem. Year after year, the scientific community has refined the radiological tools that can be used for post-mortem and clinical forensic purposes. As a result, scientific societies have published recommendations that are essential for the daily work of forensic imaging. This third part of the review of the current state of forensic imaging describes these recommended radiological tools and also presents an overview of the various international guidelines dealing with post mortem imaging that can be found in the literature or that have been written by scientific societies.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}