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PEDIATRIC GERM CELL TUMORS (GCT) ARE RARE TUMORS: 80% are benign, 20% malignant (2-3% of all malignant pediatric tumors). The gonadal sites (ovary and testis) account for 40% of cases. Represent 30% of GCTs and 70% of neoplastic ovarian masses, being the most common ovarian neoplasms in children and teenagers. Benign and immature forms (teratomas) constitute about 80% of all ovarian GCTs, malignant forms represent 20% increasing during adolescence. The most common malignant entity in children is the yolk sac tumors (YST); dysgerminoma is frequent during adolescence and being bilateral in 10% of cases. Presentation is similar in malignant and benign lesions; abdominal pain (70-80%) and lower abdominal mass are common symptoms. Evaluation of alpha-fetoprotein (αFP) or beta subunit of human chorionic gonadotropin (βHCG) is essential to address the nature of the tumors: Their elevation means presence of malignancy. Surgery includes intraoperative staging procedures and requires ovariectomy or ovarosalpingectomy for malignant lesions, but may be conservative in selected benign tumors. Since malignant GCTs are very chemosensitive, primary chemotherapy is recommended in metastatic or locally advanced tumors. Represent 10% of pediatric GCT, and about 30% of malignant GCT with two age peaks: Children <3 years may experience mature teratoma and malignant GCTs, represented almost exclusively by YST, while adolescents may also show seminomas or other mixed tumors. The main clinical feature is a painless scrotal mass. Surgery represents the cornerstone of the management of testicular GCTs, with an inguinal approach and a primary high orchidectomy for malignant tumors, while a testis-sparing surgery can be considered for benign lesions. A retroperitoneal lymph node (LN) biopsy may be necessary to define the staging when the involvement of retroperitoneal LN is uncertain at imaging investigations. Patients with gonadal malignant GCTs fare better than those with extragonadal mediastinal germ cell tumors (MGCTs) and survival rate exceeds 90% in localized forms. Chemotherapy has significantly improved the outcome of malignant forms since the introduction of platinum based regimens. The surgical procedure has to be performed in agreement with the ongoing protocols.

IntroductionThe concealment of the body following a homicide undermines different moments of the forensic and medico-legal investigations. The aim of the present study is to provide an overview of the literature and the forensic casuistry of the Institute of Legal Medicine of Padova for analyzing and discussing diverse methodological approaches for the forensic pathologist dealing with covered-up homicides.Material and methodsA literature review, updated until September 2019, was performed, and a literature pool of forensic cases was built. In-house cases were included by conducting a retrospective analysis of the forensic caseworks of Padova of the last 20 years. Data regarding epidemiology, methodology of assessment, methods of concealment, and answers to medico-legal issues were extracted for both data sets.Results and discussionSeventy-eight papers were included in the literature review (78.2% being case reports or case series, 17% retrospective studies, and 6% experimental studies or reviews). Literature and in-house data sets consisted of 145 and 13 cases, respectively. Death scene investigation, radiology, toxicology, and additional analyses were performed in 20–54% of literature and 62–77% of in-house cases. Cover-up by multiple methods prevailed. Death was caused by head trauma in about 40% of cases (both data sets), strangulation in 21% of literature, and 7% of in-house cases, and was undetermined in 17% of literature and 7% of in-house cases.ConclusionsThe methodology of ascertainment should be case-specific and based on a multidisciplinary and multimodal evaluation of all data, including those gained through novel radiological and/or analytical techniques.

The present paper aims at a systematic review of the current knowledge on phosphatidylethanol (PEth) in blood as a direct marker of chronic alcohol use and abuse. In March 2012, the search through “MeSH” and “free-text” protocols in the databases Medline/PubMed, SCOPUS, Web of Science, and Ovid/Embase, combining the terms phosphatidylethanol and alcohol, provided 444 records, 58 of which fulfilled the inclusion criteria and were used to summarize the current evidence on the formation, distribution and degradation of PEth in human blood: (1), the presence and distribution of different PEth molecular species (2), the most diffused analytical methods devoted to PEth identification and quantization (3), the clinical efficiency of total PEth quantification as a marker of chronic excessive drinking (4), and the potential utility of this marker for identifying binge drinking behaviors (5). Twelve papers were included in the meta-analysis and the mean (M) and 95% confidence interval (CI) of total PEth concentrations in social drinkers (DAI ≤ 60 g/die; M = 0.288 µM; CI 0.208–0.367 µM) and heavy drinkers (DAI > 60 g/die; M = 3.897 µM; CI 2.404–5.391 µM) were calculated. The present analysis demonstrates a good clinical efficiency of PEth for detecting chronic heavy drinking.

The prostate gland is among the last internal organs to deteriorate during human decomposition. However, the effect of postmortem interval (PMI) on the mRNA and lncRNA expression and splicing is yet to be investigated in detail. The current study aims to identify the functional role of postmortem gene induction and pathway activation in prostate tissues with respect to the PMI gradient. Cadaver samples that were used in this study were collected during forensic autopsies and preserved at -20 °C in the morgue at the University of Pavia (Pavia, Italy). After RNA extraction, total RNA sequencing was performed on Illumina’s NovaSeq 6000 using paired-ended sequencing approach. StringTie was used to perform expression level for mRNAs and lncRNAs by calculating FPKM. Additionally, mRNAs and lncRNAs differential expression analyses were performed by DESeq2. rMATS was used to identify alternative splicing events and analyze differential alternative splicing events between samples having high and low PMI. Pathway analysis of the differentially expressed genes demonstrated the enrichment of FoxO signaling, aldosterone-regulated sodium reabsorption and adipocytokine signaling pathways in prostate tissue with high PMI. Gene Set Enrichment Analysis (GSEA) indicated the positive enrichment of genes belonging from protein export, proteasome, ferroptosis, and citric acid cycle in high PMI group. A comprehensive detection of alternative splicing events (ASEs) at the cellular level in postmortem prostate tissue was performed to reveal skipped exon events to be most prominent ASE in high PMI group followed by retained intron events. Our study implies that the transcription machinery remains active in prostate tissue even after five days postmortem. The results will add profound knowledge about postmortem changes at a molecular level and can add useful information for the determination of postmortem interval, which remains a challenge for forensic pathologists.

Background: Anthropometric measurements play a crucial role in medico-legal practices. Actually, several scanning technologies are employed in post-mortem investigations for forensic anthropological measurements. This study aims to evaluate the precision, inter-rater reliability, and accuracy of a handheld scanner in measuring various body parts. Methods: Three independent raters measured seven longitudinal distances using an iPad Pro equipped with a LiDAR sensor and specific software. These measurements were statistically compared to manual measurements conducted by an operator using a laser level and a meterstick (considered the gold standard). Results: The Friedman test revealed minimal intra-rater variability in digital measurements. Inter-rater variability analysis yielded an ICC = 1, signifying high agreement among the three independent raters. Additionally, the accuracy of digital measurements displayed errors below 1.5%. Conclusions: Preliminary findings demonstrate that the pairing of LiDAR technology with the Polycam app (ver. 3.2.11) and subsequent digital measurements with the MeshLab software (ver. 2022.02) exhibits high precision, inter-rater agreement, and accuracy. Handheld scanners show potential in forensic anthropology due to their simplicity, affordability, and portability. However, further validation studies under real-world conditions are essential to establish the reliability and effectiveness of handheld scanners in medico-legal settings.

Asbestos still represents a major public health problem on a global scale. In Central Asia chrysotile is still mined and used, claiming that it is safer with respect to amphibole asbestos within certain concentrations. However, the problem of asbestos exposure in Central Asia and its consequences on human health have been poorly investigated. We analysed, for the first time, samples of raw and wrought material coming from one of the two asbestos-cement industries, currently active, located near the city of Bishkek, the capital of Kyrgyzstan, as well as air samples collected on different sites of Bishkek and Kant and lung tissues taken from the general population during clinical autopsies. Air samples have been analyzed using a scanning electron microscopy (SEM) equipped with energy dispersive spectroscopy (EDS). Heavy air asbestos pollution was detected in Kant (30.2 ff/L), while Bishkek had lower levels. Lung tissue analysis in the general population, carried out using both SEM and transmission electron microscopy (TEM) with EDS, revealed the presence of both chrysotile and amphibole asbestos. Such findings underline that, even in countries where the use of asbestos is allowed based on the presumed pureness of chrysotile used and the lower carcinogenic potential of chrysotile compared to amphibole asbestos, the general population could be exposed also to amphibole asbestos.

Anabolic androgenic steroids (AAS) are the main class of doping agents and their consumption produces adverse effects involving several organs and systems. Three cases of sudden cardiac death (SCD) and one of death due to congestive heart failure of previously healthy athletes who were AAS users are herein reported. Concentric cardiac hypertrophy with focal fibrosis (one case), dilated cardiomyopathy with patchy myocyte death (two cases) and eosinophilic myocarditis (one case) were observed and most probably relate to the final event. Molecular investigation for viral genomes was positive in one case (Ebstein virus). Our data confirm previous findings, showing that the most typical cardiac abnormality in AAS abusers is left ventricular hypertrophy, associated with fibrosis and myocytolysis. An exceptional cardiovascular substrate was represented by the case with drug induced eosinophilic myocarditis. These features are at risk of ventricular arrhythmias as well as congestive heart failure. The cause–effect relationship between AAS abuse and cardiac death can be established only by a rigorous methodology with the use of standardized protocols, including precise morphological studies of all target organs to search for chronic toxic effects. Laboratory investigations should focus on AAS searching on a wide range of biological matrices to demonstrate type, magnitude and time of exposure.

Background Cannabis is the most consumed drug worldwide and number of users is increasing, particularly among youth. Moreover, cannabis potential therapeutic properties have renewed interest to make it available as a treatment for a variety of conditions. Albeit rarely, cannabis consumption has been associated with cardiovascular diseases such as arrhythmias, myocardial infarction (MI) and potentially sudden death. Case presentation A 24-year-old woman presented to the emergency department sent by her cardiologist because of a recent finding of a 16 seconds asystole on the implantable loop recorder (ILR) she implanted 7 months before for recurrent syncopes. She declared that she is a heavy cannabis user (at least 5 cannabis-cigarette per day, not mixed up with tobacco, for no less than 12 years) and all syncopes occurred shortly after cannabis consumption. After a collective discussion with the heart team, syncope unit, electrophysiologists and toxicologist, we decided to implant a dual chamber pacemaker with a rate response algorithm due to the high risk of trauma of the syncopal episodes. 24 months follow-up period was uneventful. Conclusions Cannabis cardiovascular effects are not well known and, although rare, among these we find ischemic episodes, tachyarrhythmias, symptomatic sinus bradycardia, sinus arrest, ventricular asystole and possibly death. Because of cannabis growing consumption both for medical and recreational purpose, cardiovascular diseases associated with cannabis use may become more and more frequent. In the light of the poor literature, we believe that cannabis may produce opposite adverse effects depending on the duration of the habit. Acute administration increases sympathetic tone and reduces parasympathetic tone; conversely, with chronic intake an opposite effect is observed: repetitive dosing decreases sympathetic activity and increases parasympathetic activity. Clinicians should be aware of the increased risk of cardiovascular complications associated with cannabis use and should investigate its consumption especially in young patients presenting with cardiac dysrhythmias.

Micro-CT has successfully been applied to the characterization of false starts (FSs) and, among several parameters, kerf width seems to correlate to the tool blade. The aim of the present study was to evaluate the diagnostic value of micro-CT for the differentiation of saw marks produced by different classes of saws and by saws belonging to the same class and differing only in number of teeth per inches (TPI). A morphological and morphometric analysis of 84 marks, produced by 6 saws belonging to 3 morphological classes, was performed. In the experimental cohort, for each parameter, statistically significant differences in intra- and inter-class analysis were searched for and cut-offs were established. The diagnostic accuracy of cut-offs was assessed through statistical analyses on the validation cohort. The morphological assessment did not allow to differentiate saws differing only in TPI. Angle 1 and top kerf width, respectively for cross-cut and rip-cut saws with alternating set, allowed a good discrimination between FSs produced by tools belonging to the same morphological class. High positive predictive values were found in intra-class analyses, while results in inter-class analyses were less encouraging. In cases of dismemberment, a micro-CT-based analysis of FSs is strongly suggested as a part of a multistep and multimodal methodology of assessment, which includes scanning electron microscopy and stereomicroscopy. A morphological assessment should be followed by an experimental trial and by a morphometric analysis. Further studies are needed to evaluate hampering factors, such as damage by physico-chemical agents.

Background: Alcohol consumption during pregnancy, even at low doses, may damage the fetus. Pregnant women tend to underreport their alcohol consumption generating the need for sensitive and specific biomarkers, among which PEth has emerged due to its high specificity and possibility to be measured in both maternal and neonatal blood. The aim of this study is to systematically review the latest 20 years of literature for depicting the state of the art, the limitations, and the prospects of PEth for estimating alcohol consumption during pregnancy. Materials and methods: A systematic search, adhering to PRISMA guidelines, of the latest 20 years of literature through “MeSH” and “free-text” protocols in the databases PubMed, SCOPUS, and Web of Science, with time limits 1 January 2002–1 March 2022, was performed. The inclusion criteria were as follows: PEth used for detecting alcohol consumption during pregnancy, quantified in blood through liquid chromatography coupled to mass spectrometry, and full texts in the English language. Opinion papers, editorials, and narrative reviews were excluded. Results: Sixteen (16) papers were included in the present review (0.81% of total retrieved records). All the included records were original articles, of which there were seven prospective cohort/longitudinal studies, six cross-sectional studies, two observational-descriptive studies, and one retrospective study. All studies assayed PEth in at least one biological matrix; seven (7) studies quantified PEth in maternal blood, seven studies in newborn blood, and only two studies in both maternal and neonatal blood. In several included papers, PEth proved more sensitive than self-reports for identifying pregnant women with an active alcohol intake with the diagnostic efficiency improving with the increase of the maternal alcohol intake. Conclusions: Further studies, performed on wider and well-stratified populations, are needed to drive any definitive conclusion. PEth is a promising marker for monitoring alcohol use in pregnancy; however, at the present time, its use is still limited mainly by the absence of a globally agreed interpretative cut-off, the paucity of data regarding its specificity/sensitivity, and the lack of standardization on the diagnostic efficiency of the different isoforms.