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Sudden infant death syndrome (SIDS) is still the leading cause of death for newborns in developed countries. The pathophysiological mechanisms have not been fully clarified, but in some of SIDS cases variants of genes associated with inherited cardiac conditions are found. In this study, an analysis of SCD-related genes was performed to determine the prevalence of rare pathogenic (P) or likely pathogenic (LP) variants that could provide an unambiguous explanation for the fatal event. A cohort of 76 SIDS cases underwent Next-Generation Sequencing (NGS) analysis with a custom panel of SCD-related genes. Rare variants were classified according to the guidelines provided by the American College of Medical Genetics and Genomics (ACMG) and the specifications of the ClinGen association. Post-mortem genetic testing identified 50 (65.8%) carriers of at least one variant in SCD genes. 104 rare genetic variants were found, 65.4% in genes encoding structural proteins. Only 4 out of 76 cases (5.3%) hosted at least a P or LP variant found in genes with structural or structural/arrhythmogenic functions (SLC22A5, SCN5A, MYL3and TTN). 99 variants were classified as of uncertain significance (VUS). The difference in the distribution of variants between gene groups by function was not statistically significant (chi square, p = 0,219). Despite this, most of the variants concerned structural genes that were supposed to have a close interaction with ion channels, thus providing an explanation for the arrhythmic event. Segregation analysis, reclassification of VUS variants and identification of new associated genes could clarify the implications of the current findings.
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Sequenciamento de Nucleotídeos em Larga Escala , Canal de Sódio Disparado por Voltagem NAV1.5 , Morte Súbita do Lactente , Humanos , Morte Súbita do Lactente/genética , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Masculino , Lactente , Feminino , Recém-Nascido , Cadeias Pesadas de Miosina/genética , Proteínas de Ciclo Celular/genética , Variação Genética , Testes Genéticos , Fatores de Transcrição/genética , Mutação , Transportadores de Ânions Orgânicos/genética , ConectinaRESUMO
Elevator-related fatalities and injuries are rarely discussed. Falls have been identified as the first cause of mortality in the majority of these accidents. Evidence suggests that many elevator accidents may be attributed to inadequate equipment maintenance or malfunctions of the devices. This study examines a case involving an elevator maintenance worker found within an elevator shaft, using postmortem computed tomography (PMCT) along with a full autopsy. The autopsy revealed that the cause of death was severe polytrauma resulting from dragging, compression, and crushing mechanisms, which resulted in a dislocated skull and multiple thoraco-abdominal injuries, including exposed organs and viscera. Detailed examination identified a cranio-encephalic crush, leading to a significant alteration in the physiognomy of the facial structures. Additionally, PMCT revealed complex spinal fractures, such as a Jefferson fracture and a complete Chance fracture at the D6 vertebra, accompanied by spinal deviation proximal to the fracture site. Autopsy findings corroborated these PMCT results. A multidisciplinary approach, including PMCT, is proposed as a strategic method for the comprehensive reconstruction of such accidents, facilitating the collection of extensive data.
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This study investigated the injury patterns associated with fatal falls from heights compared to individuals struck by cars, aiming to enhance the differential diagnosis in ambiguous cases, where it is unclear whether the body fell from nearby building or was left on the street following a road traffic incident. A retrospective review of comprehensive forensic reports from the Institute of Legal Medicine of the University of Rome "Tor Vergata" between 2012 and 2023 was conducted. The analysis included 232 cases, gathering data on internal organ injuries, skeletal fractures, external skin injuries, as well as pleural, peritoneal, and pericardial effusions. Bilateral lung injuries were significantly more common in falls from height (33.3%) compared to pedestrians (13.6%, p < 0.001). Liver injuries also occurred more frequently in fall victims (49.6%) than in pedestrians (28.2%, p < 0.001). Skull fractures were more frequent in falls from height (68.2%) versus individuals struck by cars (55.3%, p = 0.044), while unilateral leg fractures were more common in pedestrians (28.2%) compared to fall victims (16.3%, p = 0.029). External injuries, notably to the head and legs, were more frequent in pedestrians. The "Total Injured Skin Area" analysis revealed a significant discriminative power with an optimal cut-off of 84.2 cm², suggesting that injuries exceeding this threshold may be indicative of a pedestrian road fatality.
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Sudden death cases in the young population remain without a conclusive cause of decease in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Molecular autopsy may reveal a genetic defect in up to 20% of families. Most than 80% of rare variants remain classified with an ambiguous role, impeding a useful clinical translation. Our aim was to update rare variants originally classified as of unknown significance to clarify their role. Our cohort included fifty-one post-mortem samples of young cases who died suddenly and without a definite cause of death. Five years ago, molecular autopsy identified at least one rare genetic alteration classified then as ambiguous following the American College of Medical Genetics and Genomics' recommendations. We have reclassified the same rare variants including novel data. About 10% of ambiguous variants change to benign/likely benign mainly because of improved population frequencies. Excluding cases who died before one year of age, almost 21% of rare ambiguous variants change to benign/likely benign. This fact makes it important to discard these rare variants as a cause of sudden unexplained death, avoiding anxiety in relatives' carriers. Twenty-five percent of the remaining variants show a tendency to suspicious deleterious role, highlighting clinical follow-up of carriers. Periodical reclassification of rare variants originally classified as ambiguous is crucial, at least updating frequencies every 5 years. This action aids to increase accuracy to enable and conclude a cause of death as well as translation into the clinic.
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Arritmias Cardíacas , Morte Súbita , Humanos , Morte Súbita/etiologia , Mutação , Frequência do Gene , Autopsia , Morte Súbita Cardíaca/etiologiaRESUMO
Biliary atresia (BA) is an inflammatory obliterative cholangiopathy which is very common during neonatal and infancy period. We present an autopsy report of a BA in an infant suffering from a genetic syndrome.
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Anormalidades Múltiplas , Atresia Biliar , Recém-Nascido , Humanos , Lactente , Atresia Biliar/diagnóstico , Atresia Biliar/patologia , Autopsia , Anormalidades Múltiplas/diagnósticoRESUMO
In forensic investigations, the limitations of the traditional purely autoptic approach can be overcome through post-mortem imaging (virtopsy). Virtospy has several applications to the investigation of brain and spinal injuries, whose analysis can be of forensic interest, especially in cases of suspected malpractice. In this scoping review, we briefly describe the main applications of the two most common post-mortem radiological techniques (computed tomography (CT) and magnetic resonance imaging (MRI)) to the forensic investigation of brain and spinal injuries in cases of medical malpractice or traumatic (accidental/homicidal/suicidal) deaths. Although CT represents the traditional approach to post-mortem imaging, MRI is proving to be a valuable tool to investigate brain and spinal injuries and lesions. These post-mortem radiological techniques can also be used to guide the surgeons in simulated surgical procedures on corpses in the context of training programs, thus helping operators to improve technical and non-technical skills and to reduce the risk of avoidable errors.
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Lesões Encefálicas , Traumatismos da Coluna Vertebral , Humanos , Imageamento post mortem , Coluna Vertebral , Encéfalo/diagnóstico por imagemRESUMO
The appearance of a gunshot wound (GSW) is greatly influenced by the velocity of the projectile, where high-velocity projectiles (HVPs) are defined as ballistic agents reaching a muzzle velocity of > 600 m/s fired from assault rifles. The aim of the study is to present and explain the differences in the dimensions of entrance and exit wounds between the most used handguns and assault rifles and to propose a predictor of HVP, i.e., the ratio of exit and entrance wounds (EX/ENR). The surface area of entrance and exit GSWs and the EX/ENR were calculated. 66 perforating GSWs produced by NATO FMJ 7.62 × 52 mm and 5.56 × 42 mm fired from assault rifles were assigned to the HVP, while 64 lesions produced by conventional projectiles fired from revolvers and semi-automatic pistols were assigned to the low-velocity projectile (LVP) group. The dimensions of the exit wounds of the HVP group were significantly higher when compared to the LVP group (95% CI 0.9886-2.423, p < 0.05). The HVP group showed significantly higher values for the EX/ENR when compared to the LVP group (95% CI 2.617-7.173, p < 0.05). The evaluation of the EX/ENR can be considered an adequate tool to assess the type of weapon involved and to roughly estimate the associated wounding mechanisms, which can guide both the physician in the management and treatment of the patients affected by GSW, and the forensic pathologist in crime investigation.
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BACKGROUND: Bile duct injury (BDI) following cholecystectomy is associated with malpractice litigation. Aim of this study was to evaluate risk factors for litigation in patients with BDI referred in a tertiary care center. METHODS: Patients treated for BDI between 1994 and 2016. Stabilized inverse probability therapy weighting was used and multivariable logistic regression analysis identified risk factors for malpractice litigation. RESULTS: Of the 211 treated patients, 98 met the inclusion criteria: early-referral group (<20 days; 51.0%), late-referral (≥20 days; 49.0%). 36 patients (36.7%) initiated malpractice litigation with verdict in favor of plaintiff in 86.7% of cases (median payment = 90 500, up to 600 000). Attempts at surgical and endoscopic repair before referral were significantly higher in late-referral group. Failed postoperative management (delayed referral, attempts at repair before referral) was one of the strongest predictors for litigation. Risk of litigation progressively increased from 23.8%, when referral time was within 19 days, to 54.5% (61-120 days), to 60.0% (121-210 days) and to 65.1% (211-365 days). DISCUSSION: Litigation rate after BDI was 37%. Delayed referral to tertiary care center was one of the strongest predictors for litigation. Prompt referral to tertiary experienced centers without any attempt at repair may reduce the risk of litigation.
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Traumatismos Abdominais , Doenças dos Ductos Biliares , Colecistectomia Laparoscópica , Imperícia , Humanos , Centros de Atenção Terciária , Colecistectomia , Doenças dos Ductos Biliares/etiologia , Encaminhamento e Consulta , Ductos Biliares/lesões , Colecistectomia Laparoscópica/efeitos adversosRESUMO
A proper interpretation of the pathogenicity of rare variants is crucial before clinical translation. Ongoing addition of new data may modify previous variant classifications; however, how often a reanalysis is necessary remains undefined. We aimed to extensively reanalyze rare variants associated with inherited channelopathies originally classified 5 years ago and its clinical impact. In 2016, rare variants identified through genetic analysis were classified following the American College of Medical Genetics and Genomics' recommendations. Five years later, we have reclassified the same variants following the same recommendations but including new available data. Potential clinical implications were discussed. Our cohort included 49 cases of inherited channelopathies diagnosed in 2016. Update show that 18.36% of the variants changed classification mainly due to improved global frequency data. Reclassifications mostly occurred in minority genes associated with channelopathies. Similar percentage of variants remain as deleterious nowadays, located in main known genes (SCN5A, KCNH2 and KCNQ1). In 2016, 69.38% of variants were classified as unknown significance, but now, 53.06% of variants are classified as such, remaining the most common group. No management was modified after translation of genetic data into clinics. After 5 years, nearly 20% of rare variants associated with inherited channelopathies were reclassified. This supports performing periodic reanalyses of no more than 5 years since last classification. Use of newly available data is necessary, especially concerning global frequencies and family segregation. Personalized clinical translation of rare variants can be crucial to management if a significant change in classification is identified.
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Canalopatias , Canalopatias/genética , Testes Genéticos , Genômica , Humanos , Canal de Potássio KCNQ1/genética , MutaçãoRESUMO
We examined 29 autopsy cases (investigated between October 2020 and February 2021) whose postmortem swabs tested positive for SARS-CoV-2. Twenty-two of 29 cases died while hospitalized (H), while the remaining 7 cases were not hospitalized (NH). Since we included only cases in which the time since death was known (excluding unwitnessed NH deaths), the interval between death and postmortem swab(s) was registered, with a mean NH value of 5.50 days and a mean H value of 3.98 days. The mean age of NH was 65 years, while H were older (mean age: 73 years). Twenty-eight nasopharyngeal and 27 lungs postmortem swabs were obtained and real-time reverse transcriptaseâpolymerase chain reaction assay for total and replicative SARS-CoV-2 RNA and mRNA detection was performed. Although the mean death-postmortem swabs interval was higher in NH than in H, the mean viral load of NH was higher than that of H (2.53 × 1011 copies/mL vs 9.31 × 108 copies/mL). In 13/29 cases (6 NH and 7 H), indicators of active replication were found. The relationship between the presence of replicative mRNA and death without hospitalization and that between the minimum cycle threshold value of SARS-CoV-2 RNA and the cycle threshold value of replicative SARS-CoV-2 mRNA were found to be statistically significant (with respective P values of 0.013 and 0.000). Therefore, especially in NH, full compliance with guidelines on biological safety in the autopsy room is essential, and no autopsy can be performed on infected cases in a structure that does not meet the established safety criteria.
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COVID-19 , SARS-CoV-2 , Idoso , Autopsia , COVID-19/diagnóstico , Humanos , RNA Mensageiro , RNA Viral , Carga ViralRESUMO
BACKGROUND: As retinal hemorrhage (RH) is the most frequent and reliable finding of abusive head trauma (AHT), an ophthalmology consultation should be systematically required in suspected cases. Full retinal examination through pharmacologically dilated pupil can detect the type and pattern of RHs, helping to distinguish abusive from non-abusive head trauma. METHODS: We performed a retrospective analysis of a case series of 6 infants (aged 0.6-10 months) with AHT who were admitted to the Emergency Department of Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome with severe intracranial hemorrhages. Children underwent full multidisciplinary assessment including dilated fundus examination, optical coherence tomography (OCT) and digital wide-field fundus photography (DWFFP - in our case RetCam). In our paper we report the clinical presentation, the ocular findings and outcome at discharge. RESULTS: The mean age at the hospital admission was 6.28 months. In all infants, intracranial hemorrhages were found. Preretinal and intraretinal hemorrhages were detected, collecting good-quality retinal images. CONCLUSIONS: Imaging of retinal hemorrhages represents a fundamental moment of AHT diagnosis and documentation. Although RetCam is the gold standard for the acquisition of retinal images in suspected cases, OCT is extremely valuable in forensic evaluation since it can detect even small macular hemorrhages. Therefore, the combination of RetCam and OCT imaging can give relevant hints for the diagnosis of AHT, allowing to evaluate the extent, spread and morphology of RHs.
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Maus-Tratos Infantis , Traumatismos Craniocerebrais , Criança , Maus-Tratos Infantis/diagnóstico , Traumatismos Craniocerebrais/diagnóstico por imagem , Humanos , Lactente , Hemorragias Intracranianas , Hemorragia Retiniana/diagnóstico por imagem , Estudos RetrospectivosRESUMO
INTRODUCTION/PURPOSE: Postmortem computed tomography (PMCT) is a valuable tool for analyzing the death of patients with SARS-CoV-2 infection. The purpose of this study was to investigate the correlation between PMCT lung findings in autopsy cadavers positive for SARS-CoV-2 infection and the severity of COVID-19 lung disease by histopathological analysis. MATERIALS AND METHODS: We reviewed chest PMCT findings, paying particular attention to the lung parenchyma, in 8 autopsy cases positive for SARS-CoV-2. Correlations between chest PMCT and histopathological findings were assessed. Clinical conditions and comorbidities were also recorded and discussed. The primary cause of death was finally considered. RESULTS: In 6/8 cases, pulmonary PMCT findings were massive consolidation (4/8) and bilateral diffuse mixed densities with a crazy-paving pattern (2/8). These cases showed severe pulmonary signs of COVID-19 at histopathological analysis. In the remaining 2/8 cases, pulmonary PMCT findings were scant antideclive ground-glass opacities in prevalent gradient densities attributed to hypostasis. In 4/8 cases with massive consolidations, important comorbidities were noted. In 6/8 cases with severe pulmonary histopathological signs of lung COVID-19, autopsy found that the cause of death was cardiorespiratory failure. In the remaining 2/8 cases, histopathological analysis revealed lung alterations due to edema and some signs of SARS-CoV-2 infection; the cause of death was not attributed to SARS-CoV-2 infection (Table 1). DISCUSSION AND CONCLUSION: Chest PMCT findings correlate with the severity of COVID-19 lung disease at histopathology examination. According to our results, there may also be a relationship between cause of death and PMCT findings in COVID-19, which must be critically analyzed considering clinical antemortem data.
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COVID-19 , SARS-CoV-2 , Autopsia , Humanos , Pulmão/diagnóstico por imagem , Pulmão/patologia , Tomografia Computadorizada por Raios XRESUMO
ABSTRACT: The aim of this study was to understand the impact of the COVID-19 pandemic on the epidemiology of maxillofacial trauma in a regional trauma center in L'Aquila, Abruzzo, Italy, during the first wave of the pandemic and comparted it to an equivalent period from 2015 to 2018. The authorshave retrospectively analyzed personal data, site of trauma, etiology, and mechanism of injury. Statistical analysis has been carried out utilizing IBM SPSS Statistics software (IBM Corp., Armonk, NY) and significance was accepted for P values of <0.05. From January 2015 to December 2020, a total of 296 were analyzed. In Pre-COVID era, 195 patients were evaluated, 130 males (66.6%) and 65 females (33.4%). Zygomatic-malar complex fractures were the most common site of trauma in both genders (53%), followed by mandibular fractures (23%) and orbital ones (15%). The highest incidences of injuries were recorded between 15 and 34âyears (21%) with the most common etiology attributed to road accidents traumas (49%). In COVID19 era, the authors recorded 101 traumas, 58 males (57.4%), 43 females (42.6%). Zygomatic-malar complex fractures were confirmed as the most common ones in both genders (41%). The most common etiology was related to casual domestic accident and assaults (37% and 30%, respectively). There was no statistically significant difference in terms of incidence in the comparison of Pre-COVID19 and COVID19 periods (Pâ>â0.05) as opposed to the etiology in which the road traffic accidents decreased in favor of domestic accidents and interpersonal assaults (Pâ<â0.05). Our scientific study represents the first epidemiologic study related to the impact of COVID-19 on maxillo-facial trauma in the Province of L'Aquila, Abruzzo, Italy. A decrease in the number of Maxillofacial injuries related to road traffic accidents can be demonstrated as the benefit of lockdown, however, a significant increase in the number of physical assaults shows how isolation and restrictions have had a highly negative psychological impact on society.
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COVID-19 , Traumatismos Maxilofaciais , Fraturas Zigomáticas , Acidentes de Trânsito , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Feminino , Humanos , Itália/epidemiologia , Masculino , Traumatismos Maxilofaciais/epidemiologia , Pandemias , Estudos RetrospectivosRESUMO
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.
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Mudanças Depois da Morte , Dente , Humanos , Projetos Piloto , Autopsia , DNARESUMO
Sudden death is defined as the unexpected death of a healthy person that occurs within the first hour of the onset of symptoms or within 24 h of the victim being last seen alive. In some of these cases, rare deleterious variants of genes associated with inherited cardiac disorders can provide a highly probable explanation for the fatal event. We report the case of a 21-year-old obese woman who lost consciousness suddenly in a public place and was pronounced dead after hospital admission. Clinical autopsy showed an inconclusive gross examination, while in the histopathological analysis an eosinophilic inflammatory focus and interstitial fibrosis in the sino-atrial node were found. Molecular autopsy revealed an intronic variant in the KCNQ1 gene (c.683 + 5G > A), classified as likely pathogenic for long QT syndrome according to the guidelines provided by the American College of Medical Genetics and Genomics. Therefore, there were many anomalies that could have played a role in the causation of the sudden death, such as the extreme obesity, the cardiac anomalies and the KNCQ1 variant. This case depicts the difficult interpretation of rare cardiac structural abnormalities in subjects carrying rare variants responsible for inherited arrhythmic disorders and the challenge for the forensic pathologist to make causal inferences in the determinism of the unexpected decease.
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Síndrome do QT Longo , Nó Sinoatrial , Adulto , Autopsia , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/patologia , Feminino , Humanos , Canal de Potássio KCNQ1 , Síndrome do QT Longo/complicações , Síndrome do QT Longo/genética , Nó Sinoatrial/patologia , Adulto JovemRESUMO
Scopolamine is an alkaloid which acts as competitive antagonists to acetylcholine at central and peripheral muscarinic receptors. We report the case of a 41-year-old male convict with a 27-year history of cannabis abuse who suddenly died in the bed of his cell after having smoked buscopan® tablets. Since both abuse of substances and recent physical assaults had been reported, we opted for a comprehensive approach (post-mortem computed tomography CT (PMCT), full forensic autopsy, and toxicology testing) to determine which was the cause of the death. Virtopsy found significant cerebral edema and lungs edema that were confirmed at the autopsy and at the histopathological examination. Scopolamine was detected in peripheral blood at the toxic concentration of 14 ng/mL in blood and at 263 ng/mL in urine, and scopolamine butyl bromide at 17 ng/mL in blood and 90 ng/mL in urine. Quetiapine, mirtazapine, lorazepam, diazepam, and metabolites and valproate were also detected (at therapeutic concentrations). Inmates, especially when they have a history of drug abuse, are at risk to use any substance they can find for recreational purposes. In prisons, active surveillance on the management and assumption of prescribed drugs could avoid fatal acute intoxication.
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Brometo de Butilescopolamônio/intoxicação , Toxicologia Forense , Prisioneiros , Escopolamina/intoxicação , Adulto , Autopsia , Edema/patologia , Evolução Fatal , Humanos , Masculino , Detecção do Abuso de SubstânciasRESUMO
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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Vítimas de Crime , Patologia Legal/métodos , Terrorismo , Ferimentos e Lesões/diagnóstico por imagem , Ferimentos e Lesões/patologia , Adulto , Autopsia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: To report in literature the first case of fatal multi-organ embolization of ureteral stones fragments during laser lithotripsy. CASE PRESENTATION: A tetraplegic 43-year-old woman was admitted to the hospital to undergo laser lithotripsy because of bilateral ureteral stones and right ureteral infected stent. During the removal of the right ureteral stent, the patient developed a sudden severe bradycardia followed by a reduction in the arterial oxygen saturation. In spite of a rapid and intensive medical intervention, the clinical picture did not improve; the woman was therefore transferred to the nearest Emergency Room where she was rescued but a cardiocirculatory arrest occurred. A claim of alleged medical malpractice was brought against the urologists. A complete autopsy was performed 8 days after death. AUTOPSY FINDINGS: The diagnosis was determined by the microscopic findings: they have unequivocally shown a massive embolization of calculus fragments in the lungs and in the heart. In the light of all these findings, the cause of death was attributable to a disseminated intravascular coagulation due to this unforeseeable embolization of calcified amorphous material. CONCLUSION: Embolization of calculus fragments represents an important challenge because it is extremely unpredictable. Indeed, a prompt diagnosis of non-thrombotic pulmonary embolism, during the urologic procedure, is extremely difficult because the condition presents with no specific clinical signs: this life-threatening pathology is often underestimated. For this reason, the autopsy and the subsequent histopathological examination are indispensable in order to prove lethal embolization: microscopic findings play a key role in the final diagnosis of death.
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Coagulação Intravascular Disseminada/etiologia , Embolia/patologia , Litotripsia a Laser/efeitos adversos , Miocárdio/patologia , Artéria Pulmonar/patologia , Cálculos Ureterais/cirurgia , Adulto , Autopsia , Evolução Fatal , Feminino , HumanosRESUMO
Inherited cardiomyopathies are frequent causes of sudden cardiac death (SCD), especially in young patients. Despite at the autopsy they usually have distinctive microscopic and/or macroscopic diagnostic features, their phenotypes may be mild or ambiguous, possibly leading to misdiagnoses or missed diagnoses. In this review, the main differential diagnoses of hypertrophic cardiomyopathy (e.g., athlete's heart, idiopathic left ventricular hypertrophy), arrhythmogenic cardiomyopathy (e.g., adipositas cordis, myocarditis) and dilated cardiomyopathy (e.g., acquired forms of dilated cardiomyopathy, left ventricular noncompaction) are discussed. Moreover, the diagnostic issues in SCD victims affected by phenotype-negative hypertrophic cardiomyopathy and the relationship between myocardial bridging and hypertrophic cardiomyopathy are analyzed. Finally, the applications/limits of virtopsy and post-mortem genetic testing in this field are discussed, with particular attention to the issues related to the assessment of the significance of the genetic variants.
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Cardiomiopatias/genética , Morte Súbita Cardíaca/patologia , Erros de Diagnóstico , Testes Genéticos/métodos , Biópsia/métodos , Biópsia/normas , Cardiomiopatias/patologia , Medicina Legal/métodos , Medicina Legal/normas , Testes Genéticos/normas , HumanosRESUMO
Frontal sinuses are of special interest for personal identification thanks to their high variability. A common procedure for comparing ante-mortem and post-mortem material is based on coding systems classifying frontal sinuses according to their morphological and metrical characteristics. However, the calculation of possible combinations is performed on the hypothesis that all the classified features are independent one from each other. This study aims at analysing the correlation among morphological and metrical characteristics of frontal sinuses. Two hundred CT scans of patients equally divided between males and females were segmented through the ITK-SNAP software. Number of accessory septations, scalloping and supra-orbital cells, side asymmetry and superiority, breadth, height, length and volume were extracted from the frontal sinuses of each subject. A possible relationship among morphological and metrical features was analysed through Pearson's correlation test, Mann-Whitney test or chi-square test according to the type of compared data (p < 0.05). In general, a positive correlation was found for all comparisons among metrical measurements (breadth, height, depth and volume) and number of septations, scalloping and supra-orbital cells (p < 0.05), but not between the number of scalloping and supra-orbital cells. In addition, side of asymmetry was positively related with side of superiority of the upper profile of frontal sinuses (p < 0.05). This study proved that morphological and metrical characteristics of frontal sinuses are strictly related one with each other: therefore, the coding systems based on these features should be applied with caution for personal identification, as the number of possible combinations is lower than reported by literature.