Publications by authors named "Vincenzo Pascali"

92 Publications

Post-mortem ocular changes and time since death: Scoping review and future perspective.

Leg Med (Tokyo) 2021 Feb 12;50:101862. Epub 2021 Feb 12.

Department of Health Care Surveillance and Bioethics, Section of Legal Medicine, Università Cattolica del S. Cuore, Rome, Italy; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

The forensics literature on the relationship between ocular changes and the postmortem interval (PMI) has traditionally focused on time-related variations in concentrations of metabolites and elements within the eye. However, structural changes within the eye over time deserve the same attention because there is significant evidence of their importance in determining the time since death. Therefore, we reviewed publications that provided substantial evidence on this issue. In light of our inclusion and exclusion criteria, 26 papers were eligible for review. On the basis of the ocular parameters considered, we grouped the reviewed evidence into eight thematic areas: corneal opacities, corneal thickness, drug-induced pupil diameter variations, retinal changes, segmentation of retinal vessels, intraocular pressure reduction, globe temperature and crystalline alterations. The most important and common limitations of the reviewed studies were small study populations (many were monocentric studies), absence of robust statistical methodology, use of mathematical models valid only in ideal conditions and validation only for short PMIs. Although many phenomena cannot be used to reliably estimate PMI, there is rigorous evidence suggesting that promising factors, including corneal thickness, require methodological innovations for application to forensics practice but could be used in the near future to reliably estimate the time since death.
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http://dx.doi.org/10.1016/j.legalmed.2021.101862DOI Listing
February 2021

Postmortem CT and autopsy findings in nine victims of terrorist attack.

Int J Legal Med 2021 Mar 8;135(2):605-618. Epub 2021 Jan 8.

Department of Health Surveillance and Bioethics, Section of Legal Medicine, Catholic University, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy.

In a foreign country, a religious terrorist group raided a restaurant, using pipe bombs, sharp-edged weapons, and various types of firearms (handguns, submachine guns, and AK-47 assault rifles) loaded with normal and prohibited bullets to kill foreigner customers, some of whom were Italian tourists. Local pathologists performed forensic autopsies on the bodies, but we were asked to perform additional external examinations, postmortem computed tomography (PMCT) scans, and then a second round of complete autopsies on nine victims (5 females and 4 males). Four victims had slash wounds inflicted by sharp-edged weapons, mostly localized in the head and neck. All but two victims had gunshot wounds. Finally, three casualties had injuries caused by the explosion of improvised explosive devices. In all cases, PMCT was a reliable source of information and provided strategic guide during autopsies, helping identify and describe the injuries and thus reconstruct the events. Therefore, in these cases, we suggest integrating the autopsy findings with the postmortem radiological data.
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http://dx.doi.org/10.1007/s00414-020-02492-wDOI Listing
March 2021

Liability of Health Care Professionals and Institutions During COVID-19 Pandemic in Italy: Symposium Proceedings and Position Statement.

J Patient Saf 2020 12;16(4):e299-e302

From the Section of Legal Medicine, Department of Health Surveillance and Bioethics, Università Cattolica del Sacro Cuore, Rome.

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.
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http://dx.doi.org/10.1097/PTS.0000000000000793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678349PMC
December 2020

A 360° Approach to the Craniovertebral Junction in a Cadaveric Laboratory Setting: Historical Insights, Current, and Future Perspectives in a Comparative Study.

World Neurosurg 2020 08;140:564-573

Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Institute of Neurosurgery, Catholic University School of Medicine, Rome, Italy; Craniovertebral Junction Operative Unit, Master II Degree and Research Center Craniocervical Junction Surgery, Catholic University School of Medicine, Rome, Italy.

Background: We herein outline the experience matured in our equipped Cranio-Vertebral Junction Laboratory for anatomic dissection.

Methods: An extreme lateral approach (ELA) was performed on 4 fresh cadavers and submandibular approach was performed on 5. An endoscope and navigation-assisted far lateral approach (FLA) was performed in 5 injected specimens. In these specimens, a transoral approach was also performed, as well as a neuronavigation-assisted comparison between transoral and transnasal explorable distances.

Results: As calculated with neuronavigation, statistically significant differences both in the explored craniocaudal (P = 0.003) and lateral (P = 0.008) distances were observed between the transoral approach and endoscopic endonasal approach. In FLA, neuronavigation facilitated identification and partial removal of the occipital condyle; in one case, during endoscopic intradural exploration, tearing of the emerging roots of the 11th cranial nerve occurred. In ELA, the site where the accessory nerve pierces into the sternocleidomastoid muscle was found at a distance from the tip of the mastoid between 3 and 4 cm.

Conclusions: During dissections, as in the clinical setting, endoscope and image guidance give the surgeon a constant orientation, increasing the accuracy and the safety of the approach. Nonetheless, the encumbrance of the endoscope could represent a limit in deep and narrow corridors as those running across the craniovertebral junction, especially in "oblique" FLA and ELA, in which the surgical target is often hidden by a delicate tangle of nerves and vessels. Its use appears more suitable and safer in "straight" approaches as transoral and transnasal in which there are no neurovascular structures interposed.
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http://dx.doi.org/10.1016/j.wneu.2020.04.058DOI Listing
August 2020

An evaluation of the objectivity and reproducibility of shear wave elastography in estimating the post-mortem interval: a tissue biomechanical perspective.

Int J Legal Med 2020 Sep 17;134(5):1939-1948. Epub 2020 Jul 17.

Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Cadaveric rigidity-also referred to as rigor mortis-is a valuable source of information for estimating the time of death, which is a fundamental and challenging task in forensic sciences. Despite its relevance, assessing the level of cadaveric rigidity still relies on qualitative and often subjective observations, and the development of a more quantitative approach is highly demanded. In this context, ultrasound shear wave elastography (US SWE) appears to be a particularly well-suited technique for grading cadaveric rigidity, as it allows non-invasive quantification of muscle stiffness in terms of Young's modulus (E), which is a widely used parameter in tissue biomechanics. In this pilot study, we measured, for the first time in the literature, changes in the mechanical response of muscular tissues from 0 to 60 h post-mortem (hpm) using SWE, with the aim of investigating its applicability to forensic practice. For this purpose, 26 corpses were included in the study, and the muscle mechanical response was measured at random times in the 0-60 hpm range. Despite the preliminary nature of this study, our data indicate a promising role of SWE in the quantitative determination of cadaveric rigidity, which is still currently based on qualitative and semiquantitative methods. A more in-depth study is required to confirm SWE applicability in this field in order to overcome some of the inherent limitations of the present work, such as the rather low number of cases and the non-systematic approach of the measurements.
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http://dx.doi.org/10.1007/s00414-020-02370-5DOI Listing
September 2020

Analysis of a DNA mixture involving Romani reference populations.

Forensic Sci Int Genet 2020 01 9;44:102168. Epub 2019 Nov 9.

Università Cattolica del Sacro Cuore, Italy. Electronic address:

Here we present an Italian criminal case that shows how statistical methods can be used to extract information from a series of mixed DNA profiles. The case involves several different individuals and a set of different DNA traces. The case possibly involves persons of interest of a small population of Romani origin. First, a brief description of the case is provided. Secondly, we introduce some heuristic tools that can be used to evaluate the data and we also briefly outline the statistical model used for analysing DNA mixtures. Finally, we illustrate some of the findings on the case and discuss further directions of research. The results show how the use of different population database allele frequencies for analysing the DNA mixtures can lead to very different results, some seemingly inculpatory and some seemingly exculpatory. We also illustrate the results obtained from combining the evidence from different samples.
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http://dx.doi.org/10.1016/j.fsigen.2019.102168DOI Listing
January 2020

A novel method for post-mortem interval estimation based on tissue nano-mechanics.

Int J Legal Med 2019 Jul 27;133(4):1133-1139. Epub 2019 Mar 27.

Institute of Physics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.

Forensic estimation of post-mortem interval relies on different methods, most of which, however, have practical limitations or provide insufficient results, still lacking a gold standard method. In order to better understand the phenomenon of rigor mortis and its applicability to the post-mortem interval estimation, we decided to use atomic force microscopy, a tool often employed to measure mechanical properties of adherent cells. Thus, we surgically removed skeletal muscle samples of three forensic cases from 0 to 120 h post-mortem and quantitatively evaluate two parameters: the Young's modulus (E), which gives information about the sample stiffness, and the hysteresis (H), which estimates the contribution of viscous forces. Despite being a preliminary study, the obtained results show that the temporal behavior of E well correlates with the expected evolution of rigor mortis between 0 and 48 h post-mortem, and then monotonically decreases over time. Unfortunately, it is strongly affected by inter-individual variability. However, we found that H provides measurable data along a time-dependent curve back to the starting point, and these data measured on different subjects collapse onto a single master curve, getting rid of the inter-individual variability. Although a larger sampling should be performed to improve the result reliability, this finding is strongly suggestive that the evaluation of rigor mortis should involve the measure of the nanoscale dissipative behavior of muscular tissues.
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http://dx.doi.org/10.1007/s00414-019-02034-zDOI Listing
July 2019

Mastering Craniovertebral Junction Surgical Approaches: The Dissection Laboratory Experience at the Catholic University of Rome.

Acta Neurochir Suppl 2019;125:13-15

Institute of Neurosurgery, Catholic University School of Medicine, Rome, Italy.

The craniovertebral junction is an intricate anatomical region frequently affected by neoplastic, vascular, traumatic, congenital and degenerative pathology. Because the topography of this region is complex, direct knowledge and full mastery of craniocervical anatomy is mainly obtained through anatomical dissections performed in neuroanatomical laboratories.
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http://dx.doi.org/10.1007/978-3-319-62515-7_3DOI Listing
August 2019

A Fatal Mediastinitis Due to a Neck Trauma from an Undeclared Assault.

J Forensic Sci 2019 Jul 16;64(4):1234-1237. Epub 2018 Nov 16.

Istituto di Sanità Pubblica, sezione di Medicina Legale, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168, Roma, Italy.

History of neck trauma should be promptly investigated in patients with severe infections of the chest as mediastinitis. We present a forensic case of a death due to a mediastinitis in a patient with an undetected fracture of the superior horn of the thyroid cartilage that was exclusively revealed at autopsy examination. Histological analyses of the neck tissues showed signs of pharyngeal mucosal microperforation caused by the fracture and surrounded by an inflammatory reaction. The fracture was caused by a not declared manual strangulation attempt, happened several days before medical evaluations. We share our experience to emphasize the importance of revealing the etiologies of fatal infections of the mediastinum both for clinical and forensic purposes.
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http://dx.doi.org/10.1111/1556-4029.13957DOI Listing
July 2019

Monitoring people at risk of drinking by a rapid urinary ethyl glucuronide test.

Interdiscip Toxicol 2017 Dec 1;10(4):155-162. Epub 2018 Mar 1.

Forensic Medicine, Forensic Science and Sports Medicine Section, Department of Surgical and Biomedical Science, University of Perugia, Piazza Lucio Severi, 06132 Perugia, Italy.

Alcohol and illicit drug abuse are major public health problems worldwide. Since alcohol is the predominant substance of choice in polydrug abusers, monitoring its use, along with urinary drug screening in patients in rehabilitation programs, appeared to be crucial in identifying patients at risk of alcohol disorders leading to impaired quality of life. Ethyl β-D-6-glucuronide, a non-oxidative, non-volatile, stable and minor direct ethanol metabolite, has a 6h to 4 day window of detection in urine after the last alcohol intake. Each of the 119 subjects (85 males, 34 females) registered with the Public Health Service for Drug Dependence Treatment provided a urine sample for ethylglucoronide (EtG) determination in an immunochemical test with a 500 ng/ml cutoff. All results were evaluated with confirmation criteria of a fully validated gas chromatography/mass spectrometry assay. The diagnostic performance of the EtG immunochemical test was assessed using Receiver Operating Characteristic Curve analysis. The immunochemical test specificity was 100% for EtG urinary values above 500 ng/ml. No false positive results were found. With levels below 500 ng/ml, 12% of the samples were classified as negative. The average consumption of the incorrectly classified subjects was 171 ng/ml, with a misclassification error of 6.5% to 18.5%. High agreement between EtG as determined in an immunochemical test and gas chromatography/mass spectrometry, suggests that the rapid EtG test is a reliable, cost-effective alcohol monitoring assay for patient management in many non-forensic settings, such as drug rehabilitation programs.
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http://dx.doi.org/10.1515/intox-2017-0022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102674PMC
December 2017

Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome.

Proteomics Clin Appl 2018 11 20;12(6):e1800065. Epub 2018 Jul 20.

Laboratory of Proteomics, Research Center of Advanced Biochemistry and Molecular Biology, Department of Experimental and Clinical Medicine, Magna Graecia University of Catanzaro, 88100, Catanzaro, Italy.

Purpose: The Brugada syndrome (BrS) is a severe inherited cardiac disorder. Given the high genetic and phenotypic heterogeneity of this disease, three different "omics" approaches are integrated in a synergic way to elucidate the molecular mechanisms underlying the pathophysiology of BrS as well as for identifying reliable diagnostic/prognostic markers.

Experimental Design: The profiling of plasma Proteome and MiRNome is perfomed in a cohort of Brugada patients that were preliminary subjected to genomic analysis to assess a peculiar gene mutation profile.

Results: The integrated analysis of "omics" data unveiled a cooperative activity of mutated genes, deregulated miRNAs and proteins in orchestrating transcriptional and post-translational events that are critical determining factors for the development of the Brugada pattern.

Conclusions And Clinical Relevance: This study provides the basis to shed light on the specific molecular fingerprints underlying BrS development and to gain further insights on the pathogenesis of this life-threatening cardiac disease.
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http://dx.doi.org/10.1002/prca.201800065DOI Listing
November 2018

Perspectives on Patient Safety and Medical Malpractice: A Comparison of Medical and Legal Systems in Italy and the United States.

J Patient Saf 2019 12;15(4):e78-e81

Center for Applied Pediatric Quality Analytics, Boston Children's Hospital.

Objectives: Italy is experiencing a crisis of malpractice litigation with important repercussions on the insurance industry (e.g., lower profits), physicians (e.g., defensive medicine), and the courts (e.g., work backlog, lengthy proceedings). We searched for common ground between legal systems in Italy and the United States and considered the implications for international collaborations in patient safety.

Methods: We examined the judicial frameworks of medical malpractice litigation in two countries with different legal foundations: the United States (a public-private system governed by common law) and Italy (a publicly financed healthcare system governed by civil law).

Results: We found important differences and similarities across the two systems that suggest a high compatibility for future comparisons and collaborations. Although many Italian hospitals maintain risk management programs, the U.S. emphasis on patient safety and quality has not yet been integrated into Italian healthcare systems.

Conclusions: Based on our findings, we propose that the Italian system might benefit from assertively adopting some concepts from the U.S. system. In particular, we consider the role of the law and Italian medicolegal experts as key facilitators for the integration of patient safety and risk management units within Italian healthcare facilities.
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http://dx.doi.org/10.1097/PTS.0000000000000460DOI Listing
December 2019

Craniovertebral Junction Transanasal and Transoral Approaches: Reconstruct the Surgical Pathways with Soft or Hard Tissue Endocopic Lines? This Is the Question.

Acta Neurochir Suppl 2017 ;124:117-121

Insitute of Neurosurgery, Medical School, Catholic University of Rome, Rome, Italy.

A variety of pathological conditions may affect the clivus and the craniovertebral junction (CVJ). These include congenital disorders, chronic inflammation, neoplasms, infections, and posttraumatic conditions that could all result in CVJ compression and myelopathy Endoscopic-assisted procedures have been further developed for CVJ decompression and they have now become conventional approaches. The aims of the present study were:(1) to compare "radiological" and "surgical" nasoaxial lines (NAxLs); (2) to introduce an analogous radiological line as a predictor of the superior extension of the transoral approach (palatine inferior dental arch line (PIA); (3) to compare the "radiological" nasopalatine line (NPL) with the "surgical" NPL (SNPL) and surgical PIA (SPIA); (4) to compare "our" SNPL with the NAxL; and (5) to find possible radiological reference points to predict, preoperatively, the maximal extent of superior dissection for the transoral approach (SPIA).
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http://dx.doi.org/10.1007/978-3-319-39546-3_18DOI Listing
November 2017

Erratum to: Evaluation of two methods for the use of diatoms in drowning cases.

Forensic Sci Med Pathol 2017 06 6;13(2):267. Epub 2017 Jan 6.

Section of Legal Medicine, Institute of Public Health, Università Cattolica del Sacro Cuore, Largo F. Vito, 1, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s12024-016-9833-6DOI Listing
June 2017

The Differential Diagnosis Between Natural Death and Homicide, an Everlasting Challenge for the Forensic Pathologist: An Exemplar Case Report.

Am J Forensic Med Pathol 2017 Mar;38(1):14-17

From the Section of Legal Medicine, Institute of Public Health, Catholic University School of Medicine, Rome, Italy.

Most of the work performed by the forensic expert is to find proof for different plausible hypotheses that may be used in a trial to serve justice purposes when the "identity" of a case is already unveiled. Yet the previous phase of the investigation is also of great importance, and sometimes (like in the presented case), it represents the core element of the entire investigation. The appropriate determination of the differential diagnosis between a natural death and a death of forensic interest (ie, homicide) is the first and crucial step in the classification of a case. This article analyzes the case of the body of a man found lying on the border of a country road with his wrists tied up with rope and the resulting investigation performed by the medicolegal forensic expert. In the end, as more specific examinations where performed aimed to find the truth, the final conclusions excluded a violent death and confirmed that the cause of the death was an acute myocardial infarction.
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http://dx.doi.org/10.1097/PAF.0000000000000282DOI Listing
March 2017

Complex Ancient Genetic Structure and Cultural Transitions in Southern African Populations.

Genetics 2017 01 11;205(1):303-316. Epub 2016 Nov 11.

Department of Zoology, University of Oxford, OX1 3PS, UK.

The characterization of the structure of southern African populations has been the subject of numerous genetic, medical, linguistic, archaeological, and anthropological investigations. Current diversity in the subcontinent is the result of complex events of genetic admixture and cultural contact between early inhabitants and migrants that arrived in the region over the last 2000 years. Here, we analyze 1856 individuals from 91 populations, comprising novel and published genotype data, to characterize the genetic ancestry profiles of 631 individuals from 51 southern African populations. Combining both local ancestry and allele frequency based analyses, we identify a tripartite, ancient, Khoesan-related genetic structure. This structure correlates neither with linguistic affiliation nor subsistence strategy, but with geography, revealing the importance of isolation-by-distance dynamics in the area. Fine-mapping of these components in southern African populations reveals admixture and cultural reversion involving several Khoesan groups, and highlights that Bantu speakers and Coloured individuals have different mixtures of these ancient ancestries.
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http://dx.doi.org/10.1534/genetics.116.189209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223510PMC
January 2017

Medico-legal perspectives on sudden cardiac death in young athletes.

Int J Legal Med 2017 Mar 21;131(2):393-409. Epub 2016 Sep 21.

Cardiovascular Genetics Center, Gencardio Institut d'Investigacions Biomèdiques de Girona (IDIBGI), Girona, Spain.

Sudden cardiac death (SCD) in a young athlete represents a dramatic event, and an increasing number of medico-legal cases have addressed this topic. In addition to representing an ethical and medico-legal responsibility, prevention of SCD is directly correlated with accurate eligibility/disqualification decisions, with an inappropriate pronouncement in either direction potentially leading to legal controversy. This review summarizes the common causes of SCD in young athletes, divided into structural (hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, congenital coronary artery anomalies, etc.), electrical (Brugada, congenital LQT, Wolf-Parkinson-White syndrome, etc.), and acquired cardiac abnormalities (myocarditis, etc.). In addition, the roles of hereditary cardiac anomalies in SCD in athletes and the effects of a positive result on them and their families are discussed. The medico-legal relevance of pre-participation screening is analyzed, and recommendations from the American Heart Association and European Society of Cardiology are compared. Finally, the main issues concerning the differentiation between physiologic cardiac adaptation in athletes and pathologic findings and, thereby, definition of the so-called gray zone, which is based on exact knowledge of the mechanism of cardiac remodeling including structural or functional adaptions, will be addressed.
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http://dx.doi.org/10.1007/s00414-016-1452-yDOI Listing
March 2017

Norcocaine and cocaethylene distribution patterns in hair samples from light, moderate, and heavy cocaine users.

Drug Test Anal 2017 Feb 1;9(2):161-167. Epub 2015 Dec 1.

Public Health Institute, Forensic Medicine Section, Catholic University of the Sacred Heart, Largo Francesco Vito, 1-, 00168, Rome, Italy.

Even though hair analysis often seems to be the best choice for retrospective monitoring of cocaine intake, differentiating between incorporated cocaine and external contamination is widely debated. In this study we report results obtained in 90 hair samples from addicts. All samples were analyzed for cocaine, benzoylecgonine, norcocaine, cocaethylene, and tropococaine by gas chromatography-mass spectrometry (GC-MS) techniques coupled with direct immersion solid-phase micro-extraction. Cocaine concentrations were stratified into three classes of usage: light (0.5-3 ng/mg), moderate (3.1-10 ng/mg) and heavy (10.1-40 ng/mg). The Substance Abuse and Mental Health Services Administration cut-off criteria for establishing active cocaine use were applied to the results. For all samples criteria were cocaine levels above 0.5 ng/mg (ranging from 1.63 to 39.29 ng/mg, mean 9.49 ng/mg), benzoylecgonine concentrations ≥ 0.05 ng/mg (ranging from 0.19 to 5.77 ng/mg, mean 1.40), and benzoylecgonine to cocaine % ratio ≥5% (from 6.43 to 26.09%). Norcocaine was present in 58.9% of samples (concentration range: 0.22-3.14 ng/mg) and was strongly predictive only of heavy cocaine use (sensitivity 100% for cocaine concentrations above 9.58 ng/mg). Twenty hair samples from moderate and heavy users tested positive for cocaethylene (concentration range: 0.22-1.98 ng/mg, mean 0.73 ng/mg). This study on hair samples with no chance of false positive cases highlights the very limited applications of testing minor cocaine metabolites for definitive proof of active cocaine consumption. © 2015 The Authors. Drug Testing and Analysis Published by John Wiley & Sons, Ltd.
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http://dx.doi.org/10.1002/dta.1903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5297877PMC
February 2017

Look but … please don't touch!

Med Sci Law 2015 Oct;55(4):315-7

Institute of Public Health, Section of Legal Medicine, Catholic University, Rome.

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http://dx.doi.org/10.1177/0025802415572814DOI Listing
October 2015

Evaluation of two methods for the use of diatoms in drowning cases.

Forensic Sci Med Pathol 2015 Dec 30;11(4):601-5. Epub 2015 Sep 30.

Section of Legal Medicine, Institute of Public Health, Università Cattolica del Sacro Cuore, Largo F. Vito, 1, 00168, Rome, Italy.

In this study, we compare digestive methods used in a forensic context to extract diatoms (37 % hydrochloric acid) to a method recently described in Italian protocols for analysis of benthic diatoms for ecological assessment of surface water (hydrogen peroxide digestion). The two digestive methods were performed using 5 g of brain, lung, liver, kidney, and bone marrow taken from the bodies of 10 drowning victims recovered from three different aquatic environments (ocean, lakes, and rivers). Postmortem examination was performed on all bodies, but aquatic samples were only analyzed in two cases. Tissue digestion was equal by both methods. Hydrogen peroxide (H2O2) digestion resulted in better diatom preservation, enabling identification of nine genera in all samples examined versus three obtained using hydrochloride digestion. The ideal digestive method to provide evidence for corroboration of a diagnosis of drowning still needs to be established. However, the benthic diatoms protocol can be useful because it is less chemically hazardous to the laboratory operator and supports better diatom preservation for reliable taxonomic analysis.
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http://dx.doi.org/10.1007/s12024-015-9708-2DOI Listing
December 2015

Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.

Int J Legal Med 2016 Mar 30;130(2):331-9. Epub 2015 Sep 30.

Cardiovascular Genetics Center, University of Girona-IDIBGI, 17003, Girona, Spain.

Sudden unexpected death in epilepsy (SUDEP) is defined as the abrupt, no traumatic, witnessed or unwitnessed death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus (seizure duration ≥ 30 min or seizures without recovery), and in which postmortem examination does not reveal a cause of death. Although the physiopathological mechanisms that underlie SUDEP remain to be clarified, the genetic background has been described to play a role in this disorder. Pathogenic variants in genes associated with epilepsy and encoding cardiac ion channels could explain the SUDEP phenotype. To test this we use the next-generation sequencing technology to sequence a cohort of SUDEP cases and its translation into clinical and forensic fields. A panel target resequencing was used to study 14 SUDEP cases from both postmortem (2 cases) and from living patients (12 cases). Genes already associated with SUDEP and also candidate genes had been investigated. Overall, 24 rare genetic variants were identified in 13 SUDEP cases. Four cases showed rare variants with complete segregation in the SCN1A, FBN1, HCN1, SCN4A, and EFHC1 genes, and one case with a rare variant in KCNQ1 gene showed incomplete pattern of inheritance. In four cases, rare variants were detected in CACNA1A, SCN11A and SCN10A, and KCNQ1 genes, but familial segregation was not possible due to lack of DNA from relatives. Finally, in the four remaining cases, the rare variants did not segregate in the family. This study confirms the link between epilepsy, sudden death, and cardiac disease. In addition, we identified new potential candidate genes for SUDEP: FBN1, HCN1, SCN4A, EFHC1, CACNA1A, SCN11A, and SCN10A. Further confirmation in larger cohorts will be necessary especially if genetic screening for SUDEP is applied to forensic and clinical medicine. Nevertheless, this study supports the emerging concept of a genetically determined cardiocerebral channelopathy.
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http://dx.doi.org/10.1007/s00414-015-1269-0DOI Listing
March 2016

Detection of JWH-073 and Cannabis Congeners in Hair: Application in Pediatric Patient.

Ther Drug Monit 2016 Feb;38(1):140-2

Institute of Public Health, Section of Legal Medicine Catholic University, Rome, Italy.

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http://dx.doi.org/10.1097/FTD.0000000000000249DOI Listing
February 2016

Genome-Wide SNP Analysis of Southern African Populations Provides New Insights into the Dispersal of Bantu-Speaking Groups.

Genome Biol Evol 2015 Sep 11;7(9):2560-8. Epub 2015 Sep 11.

Department of Zoology, University of Oxford, United Kingdom

The expansion of Bantu-speaking agropastoralist populations had a great impact on the genetic, linguistic, and cultural variation of sub-Saharan Africa. It is generally accepted that Bantu languages originated in an area around the present border between Cameroon and Nigeria approximately 5,000 years ago, from where they spread South and East becoming the largest African linguistic branch. The demic consequences of this event are reflected in the relatively high genetic homogeneity observed across most of sub-Saharan Africa populations. In this work, we explored genome-wide single nucleotide polymorphism data from 28 populations to characterize the genetic components present in sub-Saharan African populations. Combining novel data from four Southern African populations with previously published results, we reject the hypothesis that the "non-Bantu" genetic component reported in South-Eastern Africa (Mozambique) reflects extensive gene flow between incoming agriculturalist and resident hunter-gatherer communities. We alternatively suggest that this novel component is the result of demographic dynamics associated with the Bantu dispersal.
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http://dx.doi.org/10.1093/gbe/evv164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607521PMC
September 2015

Unravelling the hidden ancestry of American admixed populations.

Nat Commun 2015 Mar 24;6:6596. Epub 2015 Mar 24.

Department of Zoology, University of Oxford, South Parks Road, Oxford OX1 3PS, UK.

The movement of people into the Americas has brought different populations into contact, and contemporary American genomes are the product of a range of complex admixture events. Here we apply a haplotype-based ancestry identification approach to a large set of genome-wide SNP data from a variety of American, European and African populations to determine the contributions of different ancestral populations to the Americas. Our results provide a fine-scale characterization of the source populations, identify a series of novel, previously unreported contributions from Africa and Europe and highlight geohistorical structure in the ancestry of American admixed populations.
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http://dx.doi.org/10.1038/ncomms7596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374169PMC
March 2015

Unravelling the hidden ancestry of American admixed populations.

Nat Commun 2015 Mar 24;6:6596. Epub 2015 Mar 24.

Department of Zoology, University of Oxford, South Parks Road, Oxford OX1 3PS, UK.

The movement of people into the Americas has brought different populations into contact, and contemporary American genomes are the product of a range of complex admixture events. Here we apply a haplotype-based ancestry identification approach to a large set of genome-wide SNP data from a variety of American, European and African populations to determine the contributions of different ancestral populations to the Americas. Our results provide a fine-scale characterization of the source populations, identify a series of novel, previously unreported contributions from Africa and Europe and highlight geohistorical structure in the ancestry of American admixed populations.
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http://dx.doi.org/10.1038/ncomms7596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374169PMC
March 2015

An unusual case showing fatal rupture of a gastric ulcer or gastromalacia? The importance/role of histology for differential diagnosis.

J Forensic Sci 2015 Jan 12;60(1):240-2. Epub 2014 Nov 12.

Institute of Public Health, Section of Legal Medicine, School of Medicine, Catholic University of the Sacred Heart, Largo Francesco Vito 1, Rome, 00168, Italy.

Gastromalacia is the acute autolytic erosion of the gastric wall. It generally occurs postmortem, and it appears as a slimy brownish black region of the wall which occurs principally in the gastric fundus. A 59-year-old woman died in the Emergency Department following a 2-day period of mild abdominal pain, vomiting, and diarrhea. A forensic autopsy was performed which revealed a rupture of the gastric fundus that had caused leakage of gastric content into the abdominal cavity. There was no macroscopic evidence of peritonitis, and the stomach wall adjacent to the rupture site showed marked thinning. The gross appearance was typical of gastromalacia. In contrast, histological observations revealed the presence of an ulcer at the site of perforation and a severe acute inflammatory reaction indicating a robust reaction with an antemortem rupture.
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http://dx.doi.org/10.1111/1556-4029.12665DOI Listing
January 2015

Acute morphine and cocaine related death after trimethoprim-adultered cocaine abuse.

Ann Clin Lab Sci 2014 ;44(4):499-501

Institute of Public Health, Section of Legal Medicine, Università Cattolica del Sacro Cuore, Largo F. Vito, Rome, Italy.

Over the last few decades, cocaine and morphine (heroin) have been among the primary causes of deaths related to drug abuse. Cocaine is frequently altered by dilution, substitution, contamination, and adulteration. Trimethoprim has never been identified in the powders of cocaine, making this the first post-mortem case report in which the presence of this compound is described. The case reported here is that of a 46-year-old woman with a history of cocaine and morphine abuse who was found dead inside her bathroom. The police found the corpse next to a syringe, with a telephone card containing trace of cocaine on the sink. Toxicological analysis was performed, and drug levels were measured by means of gas chromatography/mass spectrometry. In addition to the presence of cocaine and smaller alkaloids, trimethoprim was also detected on the syringe and telephone card and in the woman's nasal mucosa. Trimethoprim analysis is very quick and easy and can be added to the routine analysis of drugs of abuse seized on the illicit market to obtain more information.
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June 2015

Visualization of myocardial infarction by post-mortem single-organ coronary computed tomography: a feasibility study.

Int J Legal Med 2015 May 24;129(3):517-24. Epub 2014 Sep 24.

Institute of Public Health, Section of Legal Medicine, Catholic University, Rome, Italy.

Introduction: Post-mortem imaging is increasingly used in forensic field in cases of natural deaths related to cardiovascular diseases, which represent the most common causes of death in developed countries. While radiological examination is generally considered to be a good complement for conventional autopsy, it was thought to have limited application in cardiovascular pathology. The aim of this study was to investigate the role of post-mortem multidetector coronary artery computed tomography in cases of sudden death in adults.

Materials And Methods: We have enrolled 11 cases, all of whom were negative for macroscopic extra-cardiac lethal findings after standard autopsy procedure. Later, from the same individuals, isolated single-organ post-mortem computed tomography coronarography (PMCTA), using an iodinated non-ionic contrast medium, was achieved. After computed tomography examination, all the isolated hearths were carried to the forensic pathologist, and a conventional histology assessment was performed on them.

Results: In 7 out of 11 of cadavers, a final diagnosis of myocardial infarction was made after a complete autopsy and histology procedures. Isolated hearts underwent PMCTA scanning and was confirmed in 6/11 cases, with the autopsy findings showing the presence and the localization of occlusions or severe stenoses and the extension of the myocardial hypoxic area by the extravasation of contrast medium as well.

Conclusion: Isolated single-organ PMCTA could be considered a valid and useful tool in addition to traditional autopsy investigation (macroscopic sections and histology) in identifying the cause of death by recognizing the presence and degree of coronary artery disease and myocardial infarction area visualization.
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http://dx.doi.org/10.1007/s00414-014-1085-yDOI Listing
May 2015

Static and moving frontiers: the genetic landscape of Southern African Bantu-speaking populations.

Mol Biol Evol 2015 Jan 14;32(1):29-43. Epub 2014 Sep 14.

Department of Zoology, University of Oxford, Oxford, United Kingdom

A consensus on Bantu-speaking populations being genetically similar has emerged in the last few years, but the demographic scenarios associated with their dispersal are still a matter of debate. The frontier model proposed by archeologists postulates different degrees of interaction among incoming agropastoralist and resident foraging groups in the presence of "static" and "moving" frontiers. By combining mitochondrial DNA and Y chromosome data collected from several southern African populations, we show that Bantu-speaking populations from regions characterized by a moving frontier developing after a long-term static frontier have larger hunter-gatherer contributions than groups from areas where a static frontier was not followed by further spatial expansion. Differences in the female and male components suggest that the process of assimilation of the long-term resident groups into agropastoralist societies was gender biased. Our results show that the diffusion of Bantu languages and culture in Southern Africa was a process more complex than previously described and suggest that the admixture dynamics between farmers and foragers played an important role in shaping the current patterns of genetic diversity.
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http://dx.doi.org/10.1093/molbev/msu263DOI Listing
January 2015