Autoptic Findings in Patients Treated with (VA-ECMO) after Cardiac Arrest.

Background: This study examines the results of autopsy examinations specifically aimed at documenting complications arising from the implantation phase and treatment with veno-arterial extracorporeal membrane oxygenation (VA-ECMO) in patients with refractory cardiac arrest. ECMO and VA-ECMO in particular are life-saving interventions that, in the case of cardiac arrest, can temporarily replace cardiac pump function. VA-ECMO is, however, a very invasive procedure and is associated with early mechanical, haemorrhagic, and thrombotic events, infections, and late multi-organ dysfunction. Aim: This research aims to evaluate autoptic and histologic findings in patients on VA-ECMO support, providing clinical and forensic evaluation elements with respect to the procedure and clinical settings. Materials and Methods: The study analysed 10 cases, considering variables such as the duration of cardiac arrest, understood as the time between the cardiac arrest event and reperfusion with VA-ECMO, the duration of VA-ECMO support, and any complications detected by clinicians during treatment. Results: The results highlighted the presence of numerous ischemic and haemorrhagic events affecting various organs. Among them, the intestines were particularly vulnerable, even after a short ECMO duration. Conclusions: ECMO was found to accelerate post-mortem decomposition, affecting post-mortem interval estimations, and cardiac damage from reperfusion, underlining the need to meticulously select indications for treatment with VA-ECMO and perform constant clinical evaluations during the treatment itself.

Medico-legal management of healthcare-associated infections: a cost-effectiveness analysis in an Italian tertiary hospital.

Introduction: Healthcare-associated infections are the main reported adverse event in healthcare, with significant economic costs that include those caused by medical malpractice claims. In Italy, there is a fault-based compensation system, but in this specific field, the burden of proof on the hospitals is particularly heavy. Hence, we aimed to verify the economic impact of the inclusion of experts in hospital infection surveillance into internal committees for claims assessment and to evaluate what would have been the economic impact of a mandatory no-fault system rather than the current system. Materials and methods: We compared two 4-year periods (T1: 2015-2018 and T2: 2019-2022), investigating the medical malpractice claims related to healthcare-associated infections in a large tertiary public hospital in Florence, Italy. Decisions of the internal committee, evolutions of the claims after the decision, and conclusions of the claims were registered. No-fault system simulations were used to evaluate the cost-effectiveness of the model. Results: We observed a decrease in the number of claims after the implementation of infection prevention and control (IPC) experts into the committee (a 24% decrease in rejections and a 19% increase in admissions). We found a 6806.98 euros difference (not statistically significant) in compensations in T1 and T2. Moreover, our simulations found that a no-fault compensation system - if alternative to the traditional fault-based approach - could lead to gains or losses for the plaintiffs depending on the approach chosen. (We observed a 52% mean decrease in compensations with a 150000 euros maximal indemnity and a 134% mean increase with an indemnity tailored considering also life expectancy). Discussion: Introducing experts in IPC into hospital committees for medico-legal claims management has proven to be cost-effective, offering a no-fault compensation system as an alternative to the traditional fault-based approach, supported by a properly evaluated maximal indemnity. Due to the limitations of our models, multicentric studies are recommended to verify our results.

"Mimics" of Injuries from Child Abuse: Case Series and Review of the Literature.

The phenomenon of child abuse/maltreatment is underestimated and often represents a difficult challenge for healthcare professionals and forensic pathologists who must proceed with the differential diagnosis with accidental or self-induced events, or with lesions due to pathologies that overlap with that of mistreatment, defined as "Mimics". This study presents a case series with the aim of discussing lesions that may mimic signs of physical abuse in children but are due to a different etiology to raise awareness and train healthcare professionals and forensic pathologists on possible confounding factors in order to avoid diagnostic errors. Six cases of "Mimics" out of 418 cases of suspected mistreatment (1.43% of cases) were identified, presenting skin lesions initially classified as injuries of abuse due to their location and type and, in particular, sexual abuse for three cases. Then, the lesions and the subjects, in particular the anamnestic history, were examined by a multidisciplinary team and the diagnosis of genital lichen sclerosus et atrophicus in three cases, and the results of popular healing techniques (i.e., "cupping") in the other three cases were ascertained. These situations require specific skills and a forensic background from healthcare professionals to conduct a correct differential diagnosis and the intervention of a multidisciplinary team to investigate every possible pathology or alternative therapeutic practice that could simulate child abuse. In particular, when "mimics" are due to alternative medicine, it should not strictly be considered child abuse, but professionals must be aware of the hypothesis of mistreatment in case of non-medical indication or potential personal injuries from other crimes, such as illegal practice of the medicine. This awareness is also crucial to direct the child toward appropriate medical care, and it is essential to recognize that these conditions can coexist within the same clinical presentation.

Post-mortem Interval estimate based on dental pulp: A histomorphology approach.

Estimating the post-mortem interval (PMI) of human remains based on the histomorphology of dental pulp parameters is promising, but available evidence is scarce and sometimes contradictory without a scientific model. The aim of the study is to characterise the histomorphological changes of dental pulp associated with the decomposition of human remains by a qualitative and quantitative approach. The main aim is to establish a correlation based on post-mortem (PM) dental pulp histomorphology and the PMI, and whether pulp degradation could be an available medico-legal tool for PMI estimation beyond the first week after death (late PMI). The eligible sample consisted of 27 sound teeth from 16 healthy patients aged 16 to 72 years due to orthodontic or oral surgery treatment, to create PMI's simulating the death of the subject as the time elapsed from tooth avulsion. Data collected from patients (sex, date of birth, tooth position, date and hour of the avulsion, date and hour of pulp extraction) were anonymised in accordance with the requirements of Faculty of Dental Medicine of the University of Lisbon. The sample was divided into 9 groups of 3 teeth according to different PMI sets from T0 (baseline) up to 2 weeks (T0, 7, 12, 24, 36, 48, and 72 hours, 1 and 2 weeks). All the dental samples were stored at room temperature up to the time of pulp extraction and then prepared with haematoxylin and eosin stain. High-resolution microscopy was performed to obtain histological images. An operator performed the qualitative evaluation of blood vessels, collagen fibres, and the extra-cellular matrix (ECM) in PM pulps and measured the variation in cells/nuclei density by counting 6 different ROIs (Regions of Interest) for each pulp manually and automatically (quantitative analysis). Qualitative results showed that the degeneration of dental pulp appears 7 hours after death but histological changes in vessels, fibres, and ECM in PM dental pulp are characterised by high variability, consequently it is not possible to generalise the results for early PMIs. Quantitative measurements proved that cell count cannot be standardised due to the presence of superimposed layers of cells and nuclei fragmentation. Odontoblasts did not demonstrate evidence of cellular or nuclear lysis up to 14 PM suggesting their applicability in late PMIs. Future research will focus on late PMIs and different techniques of tooth preparation.

Bitemark analysis comparing the use of digital scans and 3D resin casts.

Although dental patterns are unique, the use of bitemark analysis in personal identification remains controversial. To accurately reproduce and compare three-dimensional models of bitemarks and dental arches, intraoral three-dimensional scans, commonly utilized in clinical dental practice for precise and stable digital impressions, are recommended. This study aims to compare two different techniques for bitemark analysis: a digital method based on the superimposition of digital scans of dental patterns and lesions, and a visual method based on the physical superimposition of impressions and resin casts produced by 3D printing. A sample of 12 volunteers (6 males and 6 females) with a mean age of 26 years was collected as biters. Each subject was asked to bite on custom supports made from semi-rigid water bottles covered with imprintable dental wax. The dental arches and bitemarks were then recorded using an intraoral scanner and dental impressions. Scan superimposition analysis was conducted using CloudCompare software, while resin casts were printed using a 3D printer and physically superimposed on the bitemark impressions by a blind operator, who was not involved in sample collection, bite test execution, prior cast acquisition, or CloudCompare analysis. Both superimposition techniques relied on the selection of 10 corresponding landmarks (on canines and central and lateral incisors of the upper and lower arches) between the dental arches and impressions. The digital superimposition showed an average concordance of 92.5% for the upper arch landmarks and 85% for the lower arch landmarks, with an overall average concordance of 88.8% for both arches combined. In contrast, the visual analysis of resin casts showed an average concordance of 77.5% for the upper arch and 76.7% for the lower arch, with an overall average of 77.1% for both arches combined. In the analysis performed using CloudCompare, the maxillary arch demonstrated the best superimposition, with 4 landmarks (R0, R1, R2, R5) consistently overlapping. The digital analysis outperformed the visual analysis in all four quadrants, particularly in the upper right arch compared to the lower left arch, thereby supporting the integration of digital techniques in forensic applications. Further studies are necessary to validate the digital technique on a larger sample, including subjects with different dental characteristics, bite dynamics, and varying types of supports and substrates.

A pilot study on post-mortem determination of drug abuse on dental tissues.

BACKGROUND: Post-mortem toxicology constantly deals with the research of reliable alternative matrices to be applied in case of highly damaged corpses (such us carbonized, skeletonized, human remains, etc.). Teeth represent a promising alternative matrix since dental tissues are endowed by different features, resistance and stability after death. SCOPE: Since scant literature reported on the pharmacokinetics and mechanism of incorporation of xenobiotics into dental tissues, this pilot research aims to investigate whether in the pulp can be detected the same substances found in blood in drug related death cases. Secondly, the study is addressed to disclose the possible deposit of drugs in dental hard tissues (dentine and/or enamel), thus contributing to reconstruct the drug abuse history (timing, e.g.). MATERIALS AND METHODS: The study experimented with a novel method to separately analyse dental enamel, dentin, and pulp, applied to 10 teeth collected during autopsies of drug-related deaths along with blood and hair samples for classic toxicological analyses. Each tooth was prepared by "pulverization technique" and then analysed by gas chromatography paired with mass spectrometry (GC-MS) and ultra high performance liquid chromatography coupled to high resolution mass spectrometry (UHPLC/HR-MS) for searching cocaine, opiates, and metabolites. The results were then compared with those obtained from blood and hair samples. RESULTS: Preliminary results demonstrated that teeth differ from any other classic matrix (blood and hairs) since the qualitative correspondence of the detected substances between pulp and blood as well as dental hard tissues and hair suggests that they can be useful in post-mortem evaluation as a unique matrix for both acute and chronic assumptions of drugs. The mechanism of accumulation of substances in mineralized dental tissues emerged the most significant result, being influenced by the type of molecule and the method of assumption. The main limitation of this study is the limited availability of the sample and the absence of anamnestic information of the time, rates and method of drug assumption during life. Further research is necessary to systematically investigate the distribution of different substances within the different tissues of the tooth.

Dental DNA Mutations Occurring after Death: A Novel Method for Post-Mortem Interval (PMI) Estimation.

Post-mortem interval (PMI) estimation remains one of the major challenges in forensic practice, especially for late PMIs beyond 7-10 days after the death of the subject. In 2022, an innovative method to investigate the occurrence of mutations induced by the death of a subject in the DNA of post-mortem dental pulps at different PMIs was developed, applying a next-generation sequencing (NGS) analysis. The present study aims to apply the same method of analysis to a small sample of teeth belonging to the same subject and analyzed at different PMIs/accumulated degree days (ADDs), and of teeth extracted from different subjects but analyzed at the same PMI/ADD to verify the repeatability of the results obtained in relation to the time elapsed since death. A total of 10 teeth were collected from 6 patients (3 males and 3 females) with PMI varying from 8 to 35 days, and ADD from 157.4 to 753.8. We found 1754 mutations in 56 genes, with more than 700 mutations having a prevalence > 5% and more than 300 variants considered of interest for the purposes of the study. Mutations that were not present at lower PMIs but manifested in later PMIs in pulps belonging to the same subject demonstrate that they can only have been acquired by the subject after death and according to the time elapsed since death. In total, 67 somatic mutations in 29 out of the 56 genes of the used panel occurred in a fashion that allows an association with specific PMI/ADD ranges (within 8 days, between 17 and 28, and beyond 30 days after death). The results suggest that temperature and humidity could influence the rate of DNA degeneration in dental pulps, thus PMI should be estimated in ADD more than days. The preliminary validation supports the hypothesis that the innovative method could be a useful tool for estimating the post-mortem interval even beyond the first week after death, but further analyses are needed to customize a specific genetic panel for forensic investigations and verify the influence of degenerative processes of soft tissues surrounding dental elements on DNA degeneration of pulps.

Negative Outcomes of Blepharoplasty and Thyroid Disorders: Is Compensation Always Due? A Case Report with a Literature Review.

BACKGROUND: Plastic surgery is one of the medical specialties with the highest risk of recurrent medical malpractice claims. The frequency of civil lawsuits represents an issue for the micro- and macro-economy of practitioners of these health treatments. This paper aims to discuss the medico-legal aspects and claim path in a case of a cosmetic blepharoplasty complicated by lagophthalmos wrongly related to the procedure but due to missed hyperthyroidism. CASE DESCRIPTION AND LITERATURE REVIEW: A 48-year-old woman who underwent cosmetic blepharoplasty with undiagnosed hyperthyroidism claimed that the lagophthalmos that occurred some months after the procedure was due to medical malpractice, due to an over-resection of the exuberant lower eyelid tissue. The review question was, "Are thyroid disfunctions usually considered contraindications to be communicated to patients who undergo blepharoplasty?", and the databases MEDLINE via PubMed, Embase, Scopus, Ovid, ISI Web of Science, Cochrane, and Google Scholar were used. RESULTS AND DISCUSSION: There were 21 eligible papers. The case highlights the importance and complexity of causal inference (such as unknown thyroid dysfunctions), related informed consent involving information on possible complications unrelated to malpractice, and guidelines recommending endocrinological consultation for cosmetic/functional blepharoplasty in patients at risk (e.g., female patients with a known history of thyroid disease).

The Italian version of Edinburgh Handedness Inventory: Translation, transcultural adaptation, and validation in healthy subjects.

Lateralization is a key aspect of brain architecture and handedness is its primary manifestation. The Edinburgh Handedness Inventory (EHI) and the laterality quotient (LQ) assess the direction and consistency of handedness and require translation and cross-cultural adaptation to guarantee construct validity. We developed a standardized Italian EHI version. The developed Italian version was tested on 202 Italian subjects, classified into three hand types based on their LQs: right, mixed, and left. The frequency of left-handedness in Italians and other populations was compared to previous data. LQs from the twenty- and the ten-item original inventories were also compared. We conducted a factorial analysis. Mcdonald's Omega tested internal consistency. The prevalence of left-handedness was 6.4%, consistent with prior findings in Italian samples and other EHI translations. Age was the only socio-demographic variable that significantly affected the LQ. The internal consistency of the Italian EHI was excellent. Handedness is a feature of several cognitive functions and some neuropsychological diseases; it is influenced by socio-demographic and cultural factors and the instrument used to assess it. To provide a consistent and comparable evaluation of the construct, we recommend using this validated Italian translation of the EHI.

Biomarkers of traumatic brain injury in vitreous humor: A pilot study.

BACKGROUND: Traumatic brain injury (TBI) is one of the major causes of morbidity and mortality worldwide. The patients' and injuries' heterogeneity associated with TBI, alongside with its variable clinical manifestations, make it challenging to make diagnosis and predict prognosis. Therefore, the identification of reliable prognostic markers would be relevant both to support clinical decision-making and forensic evaluation of polytraumatic deaths and cases of medical malpractice. This pilot study aimed to evaluate some of the main biomarkers specific for brain damage in sTBI and mmTBI deaths in samples of vitreous humor (VH) in order to verify whether predictors of prognosis in TBI can be found in this matrix. METHODS: VH were obtained from both eyes (right and left) of 30 cadavers (20 sTBI and 10 mmTBI) and analysed. These factors were evaluated: NSE (neuron-specific enolase), S100 calcium-binding protein (S100), glial fibrillary acidic protein (GFAP), Brain-derived neurotrophic factor (BDNF), Copeptin, Interleukin 6 (IL-6), Ferritin, Lactate dehydrogenase (LDH), C-Reactive Protein (CRP), Procalcitonin (PCT), Glucose and Neutrophil gelatinase-associated lipocalin (N-Gal). RESULTS: Four of the analysed proteins (LDH, ferritin, S100 and NSE) proved to be particularly promising. In particular, logistic regression analysis found a good discriminatory power. CONCLUSIONS: Given the peculiarity of the matrix and the poor standardization of the sampling, such promising results need to be furtherly investigated in serum before being implemented in the forensic practice.

A Semi-Automatic Method on a Small Italian Sample for Estimating Sex Based on the Shape of the Crown of the Maxillary Posterior Teeth.

Teeth are known to be reliable substrates for human identification and are endowed with significant sexual dimorphism not only in the size but also in the shape of the crowns. In the preliminary phase of our study (already published in 2021), a novel sex estimation method based on dental morphometric geometric (GMA) analysis combined with the artificial neural network (ANN) was developed and validated on a single dental element (first upper premolar) with an accuracy rate of 80%. This study aims to experiment and validate the combination of GMA-ANN on the upper first and second left premolars and the upper left first molar to obtain a reliable classification model based on the sexual dimorphic traits of multiple maxillary teeth of Caucasian Italian adults (115 males and 115 females). A general procrustes superimposition (GPS) and principal component analysis (PCA) were performed to study the shape variance between the sexes and to reduce the data variations. The "set-aside" approach was used to validate the accuracy of the proposed ANN. As the main findings, the proposed method correctly classified 94% of females and 68% of males from the test sample and the overall accuracy gained was 82%, higher than the odontometric methods that similarly consider multiple teeth. The shape variation between male and female premolars represents the best dimorphic feature compared with the first upper molar. Future research could overcome some limitations by considering a larger sample of subjects and experimenting with the use of computer vision for automatic landmark positioning and should verify the present evidence in samples with different ancestry.

A Survey on forensic odontologists' activity in Italy during the COVID-19 pandemic.

Few information on virus contagion at the beginning of the covid-19 pandemic led to severe restrictions in the dental and forensic activity in Italy, the introduction of procedural guidelines and implementation of preventive measures. A specific survey on Italian forensic odontologists (FOds) activity was conducted to investigate the COVD-19 pandemic impact on daily practices, the preventive measures adopted to manage the risks of contagion procedures performed on living and dead people and the possible peculiar cases that required the intervention of a medical examiner. A total of 122 FOds answered, mostly males over 46 years coming from northern Italy. The results highlight the lack of specific guidelines for the procedures on living people compared to those on the dead but the regulations for the daily clinical practice resulted more than sufficient: in fact, more than 80% of FOds adopted the preventive and safety measures provided for dental practices. The forensic activity significantly decreased during the initial period (more than 75%) and gradually normalized to pre-pandemic numbers in approximately 50% of cases after the implementation of the vaccination campaign. 13 cases of occupational contagion have been reported, most of them (more than 85%) in northern and central Italy. In two cases members of the dental staff sued the employer for responsibility in the contagion. The decrease of the overall ID activity during the pandemic time can be more likely attributed to the of the dental data than the real impact of the pandemic regulations. The use of telematic tools, such as teleconferences, for many procedures proved to be an important resource useful for application even in post-pandemic times.

Dental DNA as an Indicator of Post-Mortem Interval (PMI): A Pilot Research.

Teeth have proven to be a reliable source of DNA for forensic analysis as the pulp is rich in cells and protected from damaging factors and contamination by dental hard tissues. The pilot study aims to evaluate the feasibility of Next-Generation sequencing analysis on dental pulp to detect genetic mutations in DNA caused by post-mortem cell necrosis. We used a 56-gene oncopanel kit on a sample of 17 teeth extracted from living patients. Time of the tooth avulsion was assumed as death of the individual and Post-mortem Interval (PMI) was the time elapse since the DNA extraction and analysis. Days and Accumulated Degree Days (ADD) were assumed as measures of PMI that ranged between 0 to 34 days. Only 38 of the 56 considered genes proved to be affected by mutations (101), thus being of forensic interest. More specifically, 14 mutations occurred only in a specific range of PMIs/ADD; 67 were detected (alone or as clusters of the same gene) at specific PMI/ADD; 22 occurred at every PMI/ADD, except for some specific intervals. Since dental pulp was not targeted by any oncological diseases and all teeth were intact, vital, and from patients with unremarkable medical history, it could be assumed that mutations were due to post-mortem DNA changes induced by pulp death and the increasing time elapse since death. This pilot study found encouraging results in the application of NGS analysis on dental DNA, especially for PMIs of several days for which the traditional tools for PMI estimation have limitations. Further research on a larger sample of PMI and validation research on a larger sample of PMI and validation of the results are indeed necessary.

Trend in 167 cases of minors witnessing violence: The role played by COVID-19 pandemic.

Background: There currently is no evidence that COVID-19 has had an impact on the rates of psychological abuses occurring when a minor witnesses interpersonal violence. Aim: Our aim was to describe the accesses of the last four years to the Emergency Department of a tertiary hospital (Careggi University Hospital-Florence, Italy) due to this issue and then to evaluate whether the COVID-19 has had an impact on this trend. Methods: We collected data regarding cases of abuse in which at least a minor had reportedly witnessed the event. Medical records stored between January 1, 2018 to January 1, 2022 were analyzed, extracting sex, age and nationality of the victim; sex of the perpetrator and relationship with the victim; known previous episodes of abuse in the medical history of the victim; setting of the abuse (domestic vs. non-domestic); type of abuse (physical, psychological, sexual); whether the perpetrator was under the influence of alcohol/drugs; whether the victim was hospitalized; prognosis of the victim; number, relation with the victim and involvement in the abuse (as co-victim) of the minor(s) who witnessed the abuse. Results: A total of 167 eligible cases were registered. 69% of victims had previous episodes of abuse. The perpetrators were all known and mainly males (96%).The abuses were mainly domestic (79%). In 74% of the cases only a type of violence was perpetrated. In 12% of the cases, the minors were also victims of physical abuse. No statistically significant relationships were found between the start of the COVID-19 pandemic and the changes in the number of cases of domestic abuse (p = 0.07), physical abuse (p = 0.62), psychological abuse (p = 0.83) or sexual abuse (p = 0.88). However, during the institutional lockdown in Italy (March-May 2022) only two cases occurred - a number that did not allow period-specific statistical inference. Conclusions: Empowering the hospital policies specifically aimed at identifying and protecting the victims of violence/witnessed violence remains a critical goal from both a public health and medico-legal point of view.

Microbiological screening tests for SARS-CoV-2 in the first hour since the hospital admission: A reliable tool for enhancing the safety of pediatric care.

Introduction/purpose: Since a significant proportion of SARS-CoV-2 infections occur within healthcare facilities, a multidisciplinary approach is required for careful and timely assessment of the risk of infection in asymptomatic patients or those whose COVID-19 diagnosis has not yet been made. The aim of this study was to investigate whether an adaptative model based on microbiological testing can represent a valid risk management strategy. Material and methods: We collected data from the risk management unit database of a 1,550-bed tertiary hospital (Fondazione Policlinico Gemelli IRCCS, Rome, Italy) concerning pediatric admissions to the Emergency Department (ED) from 1 March 2020 to 31 December 2021. The study period was subdivided in period A and period B according to the technique used for the microbiological screening, respectively reverse-transcription polymerase chain reaction (RT-PCR) and antigen-detection test. Results: In Period A, 426 children (mean age: 6 years) underwent microbiological screening at the ED. The total number of molecular tests performed was 463. 459/463 tested negative at the molecular test. In Period B, 887 children (mean age: 6 years) underwent microbiological screening in the ED. The total number of molecular tests performed was 1,154. 1,117/1,154 tested negative at the molecular test. Neither in Period A nor in Period B hospital-acquired SARS-CoV-2 infections were reported. Discussion and conclusion: Despite high volumes, no cases of hospital-acquired SARS-CoV-2 infection have been reported. SARS-CoV-2 antigen-based tests can be used as a first-line option as they provide rapid results compared to RT-PCR, reducing the risk of infection in ED waiting rooms.

Eye-opening in brain death: A case report and review of the literature.

Background: According to Italian law, brain death is diagnosed when the patient is in a coma, showing the absence of respiratory drive under specific clinical conditions, and without any brain stem reflexes. On the other hand, presence of spinal reflexes, when correctly identified, does not hamper the diagnosis. Case report: We present a case of eyelid elevation two seconds after thoracic pain stimulation in a patient who otherwise fulfilled all clinical and instrumental brain-death criteria due to a residual preserved function of the superior cervical ganglion. Conclusion: Although the observed reflex is to be considered extracerebral, and therefore it should not hamper the diagnosis of BD, the authors propose implementing cerebral flow evaluation, considered "prudential", as a preliminary assessment before determining BD.

Multiple Electroencephalogram Recordings for Monitoring the Evolution of Neurological Complications during Baclofen Withdrawal Syndrome.

Baclofen withdrawal syndrome represents a clinical emergency that can lead to life-threatening complications. It is often a diagnostic challenge because of its nonspecific nature of presentation and degree of symptom overlap with other clinical diseases. Electroencephalography (EEG) might provide important supporting evidence when neurological complications are involved. We present the case of a 55-year-old woman with sudden onset of motor manifestations at the limbs and an altered mental status 24 hours after cessation of intrathecal baclofen administration, following the removal of the pump due to infection, in whom a computed tomography did not show any acute-onset brain injuries, and multiple EEG recordings were performed. The first EEG showed the presence of bilateral sharply contoured waves, in the absence of epileptic discharges and seizures. No correlation between motor manifestations and EEG changes were detected. This EEG pattern was considered to be the expression of an overexcitation of the central nervous system (CNS) due to the loss of baclofen inhibitory effects, excluding an epileptic origin of motor manifestations. Another EEG, performed 24 hours later, showed the presence of triphasic waves with severe generalised slowing, suggesting the presence of encephalopathy. The last EEG, performed 48 hours after the previous recording, when a recovered state of consciousness was already present, showed regression of the triphasic waves and a reorganisation of the background activity. In our case, repeated EEG evaluation allowed monitoring the evolution of acute encephalopathy developed during baclofen withdrawal syndrome, from the initial phase of CNS hyperexcitability, through the phase of metabolic encephalopathy, and to its resolution. This modality allowed for optimising the diagnostic-therapeutic management of the patient during her stay in the intensive care unit.

An unusual complex suicide involving a chainsaw and a hanging: a case report.

BACKGROUND: Suicides or suicidal attempts with power tools such as band or circular saws are rarely encountered in forensic medicine practice; in the forensic literature, only a few cases have been reported. We present the case of a "combined suicide" (self-injurious actions using different methods and involving various bodily sites) carried out with uncommon deadly methods: chainsaw and hanging. CASE PRESENTATION: A 58-year-old Caucasian man was found dead by his wife, hanging from the basement ceiling of the cellar in which he lived. During the investigation of the crime scene, external examination revealed a wide incised wound in the umbilical area showing the muscular and adipose tissues below. On inspection of the garden around the courtyard, the police found a chainsaw with blood spatter on both the blade and the handle. The blade appeared to be compatible with the abdominal injuries. CONCLUSIONS: Since the corpse presented this incised wound, it was crucial to establish the manner and the causes of death, as well as to exclude any third-party involvement. In this case, the presence of multiple injuries, potentially lethal, required a differential diagnosis between suicide or homicide. A detailed post-mortem examination, in association with a precise study of the circumstantial data, led the authors to assume that they were dealing with a "complex suicide."

Genetic analysis of suicide: a sample study in Tuscany (Central Italy).

Many studies have examined the genetic contribution to suicide. However, data on suicide in the Italian population are scarce. We therefore aimed to address this gap by investigating a cohort of 111 Italians for whom a verdict of suicide had been declared in court in Florence, Italy between 2007 and 2017. This cohort included 86 men and 25 women. DNA samples were obtained from tissues or blood, and 22 genes from multiple neurobiological pathways previously shown to be associated with the pathogenesis of suicide were analysed. Next-generation sequencing was used to compare these gene sequences with those from a large, normal population. In this study, we identified 19 gene variants that were present at significantly lower frequencies in our Italian cohort than in the general population. In addition, four missense mutations were identified in four different genes: Monoamine Oxidase A (MAOA), 5-Hydroxytryptamine Receptor 2 A (HTR2A), Sodium Voltage-Gated Channel Alpha Subunit 8 (SCN8A), and Nitric Oxide Synthase 3 (NOS3). Our study identified several potential genetic links with suicide in a cohort of Italians and supports a relationship between specific genetic variants and suicidal behaviour in this population.

Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: The ToRSADE registry.

Background: Sudden cardiac arrest (SCA) in young people represents a dramatic event, often leading to severe neurologic outcomes or sudden cardiac death (SCD), and is frequently caused by genetic heart diseases. In this study, we report the results of the Tuscany registry of sudden cardiac death (ToRSADE) registry, aimed at monitoring the incidence and investigating the genetic basis of SCA and SCD occurring in subjects < 50 years of age in Tuscany, Italy. Methods and results: Creation of the ToRSADE registry allowed implementation of a repository for clinical, molecular and genetic data. For 22 patients, in whom a genetic substrate was documented or suspected, blood samples could be analyzed; 14 were collected at autopsy and 8 from resuscitated patients after SCA. Next generation sequencing (NGS) analysis revealed likely pathogenetic (LP) variants associated with cardiomyopathy (CM) or channelopathy in four patients (19%), while 17 (81%) carried variants of uncertain significance in relevant genes (VUS). In only one patient NGS confirmed the diagnosis obtained during autopsy: the p.(Asn480Lysfs*20) PKP2 mutation in a patient with arrhythmogenic cardiomyopathy (AC). Conclusion: Systematic genetic screening allowed identification of LP variants in 19% of consecutive patients with SCA/SCD, including subjects carrying variants associated with hypertrophic cardiomyopathy (HCM) or AC who had SCA/SCD in the absence of structural cardiomyopathy phenotype. Genetic analysis combined with clinical information in survived patients and post-mortem evaluation represent an essential multi-disciplinary approach to manage juvenile SCD and SCA, key to providing appropriate medical and genetic assistance to families, and advancing knowledge on the basis of arrhythmogenic mechanisms in inherited cardiomyopathies and channelopathies.