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OBJECTIVES: Evaluate the prevalence of radiological anomalies on orthopantomograms (OPT) performed as part of forensic age estimation in unaccompanied minors. METHODS: This is a retrospective study conducted on 208 OPT examinations requested by a magistrate. These OPTs were interpreted independently by two readers to establish the number of missing teeth (MT), presence of dental fillings (DF), and dental anomalies (DA). The presence of radiolucent (RL), radiopaque, and mixed lesions was also assessed. RESULTS: Most radiologic anomalies were RL, detected on 41% and 39% of the subjects evaluated for R1 and R2, respectively, with a mean of 1.3 ± 2.4 (1-16) and 1.1 ± 2 (1-13) RL lesions per subject. Among the RL identified, the majority were dental (70% for R1 and 65% for R2), all of which had a suspected infectious origin. Among readers, 43% and 41% of the subjects evaluated presented MT, 21% and 15% presented DF, and 22% and 20% presented DA for R1 and R2, respectively. The inter- and intra-observer reproducibility for OPT classification was considered excellent (Kappa = 0.84, 95% CI 0.78-0.90, and Kappa = 0, 95, 95% CI 0.86-0.99). DISCUSSION: There was a non-negligible prevalence of radiological anomalies in OPT studies performed for forensic age estimation. Most of these lesions were suspected to be infectious in origin, potentially requiring medical care. This constitutes an ethical dilemma inherent in the judicial expertise injunction requiring a limited specific response. CLINICAL RELEVANCE STATEMENT: This study highlights a non-negligible prevalence of supposedly infectious radiological abnormalities. The restricted possibility for the legal expert to declare these abnormalities raises ethical and medical questions. KEY POINTS: ⢠Orthopantomograms can be performed as part of forensic age estimation. ⢠Results indicate the majority of radiological anomalies detected on OPTs were of suspected infectious origin. ⢠These findings give rise to ethical and medical questions about the way in which these forensic examinations are carried out.
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Determinação da Idade pelos Dentes , Refugiados , Humanos , Determinação da Idade pelos Dentes/métodos , Prevalência , Reprodutibilidade dos Testes , Estudos Retrospectivos , Radiografia Panorâmica , Odontologia LegalRESUMO
Forensic medicine is a thriving application field for artificial intelligence (AI). Indeed, AI applications intended to forensic pathologists or forensic physicians have emerged since the last decade. For example, AI models were developed to help estimate the biological age of migrants or human remains. However, the uses of AI applications by forensic pathologists or physicians and their levels of integration in medicolegal practices are not well described yet. Therefore, a scoping review was conducted on PubMed, ScienceDirect, and Scopus databases. This review included articles that mention any AI application used by forensic pathologists or physicians in practice or any AI model applied in one expertise field of the forensic pathologist or physician. Articles in other languages than English or French or dealing mainly with complementary analyses handled by experts who are not forensic pathologists or physicians or with AI to analyze data for research purposes in forensic medicine were excluded from this review. All the relevant information was retrieved in each article from a grid analysis derived and adapted from the TRIPOD checklist. This review included 35 articles and revealed that AI applications are developed in thanatology and in clinical forensic medicine. However, those applications seem to mainly remain in research and development stages. Indeed, the use of AI applications by forensic pathologists or physicians is not actual due to issues discussed in this article. Finally, the integration of AI in daily medicolegal practice involves not only forensic pathologists or physicians but also legal professionals.
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Inteligência Artificial , Médicos , Humanos , Patologistas , Bases de Dados Factuais , Medicina LegalRESUMO
In this paper, we present a forensic perspective on classifying gunshot wound patterns using Deep Learning (DL). Although DL has revolutionized various medical specialties, such as automating tasks like medical image classification, its applications in forensic contexts have been limited despite the inherently visual nature of the field. This study investigates the application of DL techniques (59 architectures) to classify gunshot wounds in a forensic context, focusing on distinguishing between entry and exit wounds and determining the Medical-Legal Shooting Distance (MLSD), which classifies wounds as contact, close range, or distant, based on digital images from real crime scene cases. A comprehensive database was constructed with 2,551 images, including 1,883 entries and 668 exit wounds. The ResNet152 architecture demonstrated superior performance in both entry and exit wound classification and MLSD categorization. For the first task, achieved accuracy of 86.90% and an AUC of 82.09%. For MLSD, the ResNet152 showed an accuracy of 92.48% and AUC up to 94.36%, though sample imbalance affected the metrics. Our findings underscore the challenges of standardizing wound images due to varying capture conditions but reflect the practical realities of forensic work. This research highlights the significant potential of DL in enhancing forensic pathology practices, advocating for Artificial Intelligence (AI) as a supportive tool to complement human expertise in forensic investigations.
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INTRODUCTION/AIM: Turkey has experienced a heavy migration burden in recent years due to its location and benevolent policies. This study aimed to retrospectively examine and discuss the reports prepared for foreign nationals who requested assistance at the Forensic Medicine Department of Tokat Gaziosmanpasa University Hospital in Tokat, which is located in the Middle Black Sea Region of Turkey, between 2014 and 2022. MATERIALS AND METHODS: This study retrospectively evaluated reports prepared between 2014 and 2022 in the outpatient clinics of Forensic Medicine at Tokat Gaziosmanpasa University Hospital. RESULTS: Based on the files reviewed, 219 cases were included in the study, of which 70.8% (n = 155) were male and 29.2% (n = 64) were female. Among the 75 cases referred by judicial authorities, 34.6% (n = 26) involved assault, 28% (n = 21) involved determination of the ability to understand the legal significance and consequences of the act, 16% (n = 12) involved traffic accidents, 8% (n = 6) involved poisoning, 9.3% (n = 7) involved abuse, and 4% (n = 3) involved age determinations. DISCUSSION: Problems with immigrants, which have always been a reality due to Turkey's location on migration routes, have increased significantly in recent years. For this reason, we believe that studies with multicenter and larger series should be conducted to determine the current situation that foreigners create for themselves and Turkey to facilitate necessary arrangements, determine proposed solutions, increase the quality of services offered, and develop plans for the future.
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Emigrantes e Imigrantes , Medicina Legal , Hospitais Universitários , Humanos , Turquia , Masculino , Feminino , Estudos Retrospectivos , Adulto , Pessoa de Meia-Idade , Adolescente , Adulto Jovem , Idoso , Criança , ViolênciaRESUMO
Foreign body ingestion in children is a frequent cause for medical consultation. Although most foreign bodies are spontaneously eliminated from the gastrointestinal tract, life-threatening complications such as gastrointestinal obstruction or perforation can occur. We report the case of a 6-year-old boy who died 2 days after the onset of nausea and abdominal pain, with no foreign body ingestion witnessed or reported in the previous days. Autopsy showed a diffuse peritonitis and a perforation of the transverse colon caused by three high-powered magnets stacked together, and attached to the outer stomach wall via a fourth magnet located in the stomach. The cause of death was peritonitis due to bowel perforation by ingested magnets, which were shown to have come from a toy belonging to the child. Ingestion of multiple high-powered magnets carries a high risk of gastrointestinal complications and can exceptionally have a fatal outcome, especially as it often goes unreported and causes non-specific gastrointestinal symptoms that can delay diagnosis and management. This case highlights the need to raise public awareness of the potential risks of ingesting such magnets and to strengthen safety standards to protect children from this serious health hazard.
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Corpos Estranhos , Perfuração Intestinal , Imãs , Peritonite , Humanos , Masculino , Criança , Perfuração Intestinal/etiologia , Corpos Estranhos/complicações , Imãs/efeitos adversos , Peritonite/etiologia , Jogos e Brinquedos , Evolução Fatal , Estômago/patologia , Colo Transverso/patologiaRESUMO
The European Council of Legal Medicine (ECLM) is the body established in 1992 to represent practitioners forensic & legal medicine and is composed of delegates of the countries of the European Union (EU) and from other countries which form part of Europe to a current total of 34 member countries. The aims of this study were to determine the current status of undergraduate forensic & legal medicine teaching in the curriculum of medical studies in ECLM countries and to use the results of this study to determine whether it would be appropriate to develop new guidelines and standards for harmonising the content of undergraduate forensic medicine training across ECLM member countries. A detailed questionnaire was sent to all individuals or organisations listed on the ECLM contact database. Responses were received from 21 of 33 countries on the database. These responses showed considerable emphasis on undergraduate teaching of forensic medicine in all countries with the exception of Belgium and the United Kingdom. There was great general consistency in the subjects taught. The data from this survey provide a baseline which should assist in developing a strategy to harmonise forensic & legal medicine undergraduate training in member countries of the ECLM. The ECLM is now in a good position to establish a pan-European working group to coordinate a consensus document identifying an appropriate and modern core undergraduate forensic medicine curriculum that can be presented to the medical education authorities in each country, and which can be adapted for local requirements, based on available personnel, the forensic medicine structure in the country, and most importantly, the needs of the local population.
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Currículo , Educação de Graduação em Medicina , Medicina Legal , Humanos , Europa (Continente) , Inquéritos e Questionários , Medicina Legal/educaçãoRESUMO
Most victims of physical violence sooner or later will access a hospital or medical cabinet because of that violence, and in particular emergency departments (EDs). This paper aims to analyze the performance of emergency ward clinicians in the forensic management of such victims by examining the activities carried out and the data reported. A total of 991 medical records were extrapolated from the database of the ED of the Policlinico of Milan in an average pre-pandemic 1-year activity. For each medical record, 16 parameters were analyzed in-depth including epidemiological data, information on the type of violent actions, injuries, and time between the infliction of the lesion and access to the ED. In the vast majority of cases, all the actions with medicolegal implications had been neglected by health professionals causing loss of data not only for the justice system but especially for correctly interpreting what happened and taking appropriate measures to protect the patient/victim. Hence, given that clinicians in EDs are busy with non-forensic clinical tasks (and rightly so), it should be ensured that there be specific forensic clinical personnel. However, it is crucial that when unfortunately there can be no forensic staff, at least the clinicians who work in the ED are properly trained to correctly apply essential medicolegal measures. Overall, timely and informed medical and forensic intervention is possible and necessary for the improvement and maintenance of the mental and physical health of victims of violence.
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Agressão , Violência , Humanos , Abuso Físico , Medicina Legal , Serviço Hospitalar de EmergênciaRESUMO
PURPOSE: The purpose of this work is to share our experience with an educational video on forensic autopsy. Using questionnaires, we attempted to answer the following questions: Does watching the video trigger emotions in students? Does the autopsy meet the expectations that they had before? Does the video help to prepare them for their subsequent autopsy participation? METHODS: A total of 365 medical students who attended their classes during the COVID-19 pandemic measures were provided with the video on an online platform. Links leading to questionnaires were positioned before and after the video. One hundred seventy-six students returned to face-to-face teaching during their course in forensic medicine. Those among them who chose to participate in an autopsy at our institute were given the link to a third questionnaire after their autopsy participation. The data was analyzed using IBM SPSS 27.0 and Microsoft Excel. RESULTS: One hundred seventy-two students completed a questionnaire before watching the educational video, 85 also completed one afterwards, and 28 completed the third questionnaire. The most intense feelings while watching the video were "curiosity" and "surprise". Out of twelve students (14.1%) who had imagined the autopsy differently in advance, five perceived the autopsy shown in the video as rougher or more brutal than expected. All autopsy participants who had previously viewed the video felt adequately prepared. CONCLUSION: Teaching should include an introduction to the handling of the corpse and the general procedures in the dissecting room. Although a video cannot substitute for personal interaction, it is useful to prepare students for their autopsy participation.
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Estudantes de Medicina , Humanos , Estudantes de Medicina/psicologia , Relatório de Pesquisa , Pandemias , Autopsia , Inquéritos e QuestionáriosRESUMO
The identification of hypothermia death (HD) is difficult for cadavers, especially the distinction from death due to alternative causes. A large number of studies have shown that brown adipose tissue (BAT) plays critical roles in thermoregulation of mammals. In this study, BAT of mice was used for the discrimination of HD using attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR). A modified mouse HD model conducted by Feeney DM was used in this study to obtain infrared spectra of BAT. Principal component analysis (PCA), partial least squares discriminant analysis (PLS-DA), and orthogonal partial least squares discriminant analysis (OPLS-DA) were used to establish discrimination models. The PLS-DA and OPLS-DA models exhibit prominent discriminative efficiency, and the accuracy of HD identification using fingerprint regions and ratios of absorption intensity is near 100% in both the calibration and validation sets. Our preliminary study suggests that BAT may be an extremely effective target tissue for identification of cadavers of HD, and ATR-FTIR spectra combined with chemometrics have also shown potential for cadaver identification in forensic practice in a fast and accurate manner.
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Hipotermia , Animais , Camundongos , Espectroscopia de Infravermelho com Transformada de Fourier/métodos , Análise Discriminante , Análise dos Mínimos Quadrados , Cadáver , MamíferosRESUMO
Artificial intelligence (AI) is increasingly used in forensic anthropology and genetics to identify the victim and the cause of death. The large autopsy samples from persons with traumatic causes of death but without comorbidities also offer possibilities to analyze normal histology with AI. We propose a new deep learning-based method to rapidly count glomerular number and measure glomerular density (GD) and volume in post-mortem kidney samples obtained in a forensic population. We assessed whether this new method detects glomerular differences between men and women without known kidney disease. Autopsies performed between 2009 and 2015 were analyzed if subjects were aged ≥ 18 years and had no known kidney disease, diabetes mellitus, or hypertension. A large biopsy was taken from each kidney, stained with hematoxylin and eosin, and scanned. An in-house developed deep learning-based algorithm counted the glomerular density (GD), number, and size. Out of 1165 forensic autopsies, 86 met all inclusion criteria (54 men). Mean (± SD) age was 43.5 ± 14.6; 786 ± 277 glomeruli were analyzed per individual. There was no significant difference in GD between men and women (2.18 ± 0.49 vs. 2.30 ± 0.57 glomeruli/mm2, p = 0.71); glomerular diameter, area, and volume also did not differ. GD correlated inversely with age, kidney weight, and glomerular area. Glomerular area and volume increased significantly with age. In this study, there were no sex differences in glomerular density or size. Considering the size of the kidney samples, the use of the presented deep learning method can help to analyze large renal autopsy biopsies and opens perspectives for the histological study of other organs.
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Aprendizado Profundo , Nefropatias , Feminino , Humanos , Masculino , Caracteres Sexuais , Inteligência Artificial , Rim , AutopsiaRESUMO
BACKGROUND: Radiological age assessment using reference studies is inherently limited in accuracy due to a finite number of assignable skeletal maturation stages. To overcome this limitation, we present a deep learning approach for continuous age assessment based on clavicle ossification in computed tomography (CT). METHODS: Thoracic CT scans were retrospectively collected from the picture archiving and communication system. Individuals aged 15.0 to 30.0 years examined in routine clinical practice were included. All scans were automatically cropped around the medial clavicular epiphyseal cartilages. A deep learning model was trained to predict a person's chronological age based on these scans. Performance was evaluated using mean absolute error (MAE). Model performance was compared to an optimistic human reader performance estimate for an established reference study method. RESULTS: The deep learning model was trained on 4,400 scans of 1,935 patients (training set: mean age = 24.2 years ± 4.0, 1132 female) and evaluated on 300 scans of 300 patients with a balanced age and sex distribution (test set: mean age = 22.5 years ± 4.4, 150 female). Model MAE was 1.65 years, and the highest absolute error was 6.40 years for females and 7.32 years for males. However, performance could be attributed to norm-variants or pathologic disorders. Human reader estimate MAE was 1.84 years and the highest absolute error was 3.40 years for females and 3.78 years for males. CONCLUSIONS: We present a deep learning approach for continuous age predictions using CT volumes highlighting the medial clavicular epiphyseal cartilage with performance comparable to the human reader estimate.
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Determinação da Idade pelo Esqueleto , Clavícula , Aprendizado Profundo , Osteogênese , Tomografia Computadorizada por Raios X , Humanos , Clavícula/diagnóstico por imagem , Clavícula/crescimento & desenvolvimento , Determinação da Idade pelo Esqueleto/métodos , Masculino , Feminino , Adolescente , Adulto , Adulto Jovem , Estudos RetrospectivosRESUMO
BACKGROUND: Teaching through role-plays is a preferred modality when certain behaviours or skills need to be taught. They provide a risk-free environment that simulates a real-life scenario. For a clinician, appearance in a Court of Law as an expert witness is a part of his/her legal obligation. OBJECTIVE: To explore the utility of Mock Court as an additional teaching tool for undergraduate medical students, in understanding and familiarizing with legal procedures, specifically the courtroom procedures. METHODOLOGY: We conducted Mock Court sessions with the students playing various roles, following which feedback was collected from the students, teachers and guest assessors. The data was statistically analysed by comparison of frequencies and paired t-test (pre- and post-session comparison). RESULTS: The study revealed a positive effect of the Mock Court sessions on the students, based on their increased confidence, motivation and a better grasp of legal procedures. There was a statistically significant (p < 0.001) improvement in the understanding of specific aspects of courtroom procedures after the session. CONCLUSION: The authors recommend the active implementation of Mock Court as a teaching aid for undergraduate medical students, and the use of PDSA (Deming) cycle as a tool for quality-checks and self-improvement in subsequent sessions.
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Educação de Graduação em Medicina , Estudantes de Medicina , Humanos , Masculino , Feminino , EnsinoRESUMO
Conducting external post-mortem examinations is an essential skill required of physicians in various countries, regardless of their specialization. However, the quality of these examinations has been a subject of continuous debates, and notable errors were reviled. In response to these shortcomings, a virtual reality (VR) application was developed at Halle's medical department in Germany, focusing on the scene of discovery and the completion of death certificates. The initial trial of this VR application in 2020 involved 39 students and 15 early-career professionals. Based on the feedback, the application underwent improvements and was subsequently introduced to the medical department in Dresden, Germany, in 2022. Its primary objective was to showcase the VR training's adaptability and scalability across various educational structures and levels of medical expertise. Out of 73 students who participated, 63 completed the evaluation process. 93.1% (n = 58) of the evaluators reported increased confidence in conducting external post-mortem examinations, and 96.8% (n = 61) felt more assured in filling out death certificates, crediting this progress to the VR training. Additionally, 98.4% (n = 62) believed that repeating forensic medical aspects in their coursework was crucial, and 96.8% (n = 61) viewed the VR examination as a valuable addition to their academic program. Despite these positive responses, 91.6% (n = 55) of participants maintained that training with real corpses remains irreplaceable due to the insufficiency of haptic feedback in VR. Nevertheless, the potential for enhancing the VR content and expanding the training to additional locations or related disciplines warrants further exploration.
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Autopsia , Realidade Virtual , Humanos , Autopsia/métodos , Alemanha , Medicina Legal/métodos , Medicina Legal/educação , Competência Clínica , Atestado de Óbito , Masculino , FemininoRESUMO
The ability to analyze blunt-force trauma is crucial for deciphering valuable clues concerning mechanisms of injury and as evidence for medico-legal investigations. The use of alternate light sources (ALS) has been studied over the past decade, and is proposed to outperform conventional white light (CWL) during bruise assessments. In response to the growing interest of the technology worldwide, a systematic review of the literature was conducted according to the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) to address the ability of ALS to detect and visualize bruising. From an initial 4055 records identified, ten studies met the eligibly criteria and were selected for this review. Evaluation also included a novel framework, referred to as SPICOT, to further systematically assess both scientific evidence and risk of bias in forensic literature. Analysis reveals that narrowband wavelengths within in the infrared or ultraviolet spectral ranges do not significantly outperform CWL in visualizing or detecting bruising. However, wavelengths within the visible spectrum, particularly 415 nm combined with longpass or bandpass yellow filters, are more effective. However, the majority of selected studies only address the sensitivity of ALS, and therefore, results may only be considered valid when the location of a bruise is known. Further investigation is required to understand the specificity of ALS, in particular how the use of topical cosmetic products, previous wounds/scar-tissue, tattoos, moles and freckles may affect detection. The ethical concern regarding the interpretation of enhanced visualized trauma should also be considered in prospect discussions prior to implementing ALS into routine practice. Nevertheless, this review finds that narrowband ALS within the visible spectrum demonstrates potential for improved injury documentation, outperforming CWL in the detection and visualization of bruising.
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Contusões , Ferimentos não Penetrantes , Humanos , Luz , Medicina Legal/métodosRESUMO
Because emergency departments are often the first point of contact for victims of violence, it is critical to provide the appropriate treatment in compliance with all necessary medicolegal precautions. For this reason, a randomized controlled trial was conducted at the Policlinico Hospital of Milan (Italy) in which an intervention group (12 physicians) received a 6-h course on clinical forensic medicine and their performance in medicolegal procedures in claimed cases of violence was compared with that of a control group (13 physicians) by means of a 16-item assessment scale over the 3 months before and the 3 months after the course. Overall, 195 medical records were included in the statistical analysis. Out of these cases, 105 occurred before the course (60 analyzed by the control group and 45 by the intervention group) and 90 occurred after the course (45 analyzed by the control group and 45 by the intervention group). The results showed that the overall mean score of physicians who participated to the course increased from 14.0 (IQR 7.0) to 19.0 (IQR 8.0) with a p-value < 0.0001 and that the comparison between the intervention group and the control group after the course was 19.0 (IQR = 8.0) and 14.0 (IQR = 7.0), respectively, with a p-value < 0.0001. The improvement was very little and below the expectations pointing out that educational courses, although they can be a first step towards raising the ED physicians' awareness of clinical forensics, may not be enough and that more structured training and new strategies should be implemented.
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In most experimental protocols, false starts are produced on dry bones obtained through a maceration process for anthropological analyses, for the sake of reproducibility. Although this allows for controlled experimental conditions, the absence of soft parts when experimentally creating false starts does not correspond to the real conditions of criminal dismemberment. The main objective of this study was to determine if the results of experimental work on the characteristics of false starts were valid under medico-legal conditions. In this experimental study, a hand saw (rip saw, wavy set, TPI 32) was used. 240 false starts were produced on human and pig bones. Randomly, the false starts were either produced on a dry bone or on a flesh bone. The criteria for microscopic analysis included the shape of the walls, the shape and visibility of striae on the floor, the shape of the profile, and the minimum width of the false start. On human bone, 100% of the false starts produced on a bone that had previously undergone a maceration process for anthropological analyses (dry bone) allowed the definition of all the blade characteristics. This was the case for 78.3% on bone in the presence of soft tissue (flesh bone). The striae on the floor of the false start are in some cases less visible with flesh bones, implying that it may be more difficult to conclude on the characteristics of a saw under medico-legal conditions.
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Osso e Ossos , Desmembramento de Cadáver , Humanos , Suínos , Animais , Osso e Ossos/patologia , Antropologia Forense/métodosRESUMO
Initial experiences with magnetic resonance imaging (MRI) of living strangulation victims demonstrated additional findings of internal injuries compared to the standard clinical forensic examination. However, existing studies on the use of MRI for this purpose mostly focused on the first 48 h after the incident. The aims of this study were (a) to evaluate the longitudinal visibility of MRI findings after violence against the neck by performing two MRI examinations within 12 days and a minimum of four days between both MRI scans and (b) to assess which MRI sequences were most helpful for the detection of injuries. Twenty strangulation victims participated in this study and underwent one (n = 8) or two (n = 12) MRI scans. The first MRI examination was conducted during the first five days, the second five to 12 days after the incident. Two blinded radiologists assessed the MRI data and looked for lesions in the structures of the neck. In total, 140 findings were reported in the 32 MRI examinations. Most of the findings were detected in the thyroid and the muscles of the neck. T2-weighted SPACE with fat suppression, T1-weighted TSE and T1-weighted MPRAGE were rated as the most helpful MRI sequences. Subjects who showed findings in the initial scan also demonstrated comparable results in the second scan, which was performed on average 8.4 days after the incident. Our results show that even up to 12 days after the incident, the criminal proceeding of strangulation cases may greatly profit from the information provided by an MRI examination of the neck in addition to the standard clinical forensic examination.
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Asfixia , Imageamento por Ressonância Magnética , Lesões do Pescoço , Humanos , Masculino , Asfixia/diagnóstico por imagem , Feminino , Adulto , Lesões do Pescoço/diagnóstico por imagem , Lesões do Pescoço/patologia , Pessoa de Meia-Idade , Músculos do Pescoço/diagnóstico por imagem , Músculos do Pescoço/patologia , Músculos do Pescoço/lesões , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/patologia , Adulto Jovem , Idoso , Fatores de Tempo , Vítimas de CrimeRESUMO
Hereditary connective tissue disorders (HCTDs) are a heterogeneous group of inherited diseases. These disorders show genetic mutations with loss of function of primary components of connective tissue, such as collagen and elastic fibers. There are more than 200 conditions that involve hereditary connective tissue disorders, while the most known are Marfan syndrome, Osteogenesis Imperfecta, and Ehlers-Danlos syndromes. These disorders need continuous updates, multidisciplinary skills, and specific methodologic evaluations sharing many medicolegal issues. Marfan syndrome and Ehlers-Danlos syndromes show a high risk of early sudden death. As a consequence of this, postmortem genetic testing can identify novel genotype-phenotype correlations which help the clinicians to assess personalized cardiovascular screening programs among the ill subjects. Genetic testing is also essential to identify children suffering from Osteogenesis Imperfecta, especially when a physical abuse is clinically suspected. However, this is a well-known clinical problem even though there are still challenges to interpret genetic data and variants of unknown significance due to the current extensive use of new genetic/genomic techniques. Additionally, the more significant applications and complexities of genomic testing raise novel responsibilities on the clinicians, geneticists, and forensic practitioners as well, increasing potential liability and medical malpractice claims. This systematic review provides a detailed overview on how multidisciplinary skills belonging to clinicians, medicolegal consultants, radiologists, and geneticists can cooperate to manage HCTDs from autopsy or clinical findings to genetic testing. Thus, technical aspects need to be addressed to the medicolegal community since there is no consensus works or guidelines which specifically discuss these issues.
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Doenças do Tecido Conjuntivo , Testes Genéticos , Humanos , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/genética , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/diagnóstico , Testes Genéticos/legislação & jurisprudência , Síndrome de Marfan/genética , Síndrome de Marfan/diagnóstico , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/genéticaRESUMO
BACKGROUND: At present, there are no available genetic data on the AGCU EX22 Kit from the Wuhu Han population. AIM: This study investigates the applicability of the AGCU EX22 kit, designed for the Chinese population for forensic analysis and population genetics of the Wuhu Han population. SUBJECTS AND METHODS: Bloodstains from 1565 unrelated healthy individuals in Wuhu city, Anhui Province, were collected for analysis. The AGCU EX22 kit was used for amplification, and capillary electrophoresis was used to separate the amplification products. Allele frequencies and forensic parameters were determined. The Wuhu Han population was compared to 10 reference populations through genetic distance, a phylogenetic neighbor-joining tree and principal component analysis. RESULTS: In total, 281 alleles and 1187 genotypes were observed. No significant deviations from Hardy-Weinberg equilibrium at any locus were found after Bonferroni's correction. The 21 autosomal short tandem repeat (STR) genetic markers exhibited high informativeness and polymorphism. The cumulative power of discrimination and power of exclusion were 0.999999999999999999999999913380 and 0.999999996752339, respectively. Population comparisons revealed a genetic affinity between Wuhu Han and southern Han populations, except for the Guangdong Han population, which aligned with the traditional geographical division in China. CONCLUSION: The AGCU EX22 Kit, containing 21 STR loci, is suitable for forensic application and population genetics studies in the Wuhu Han population.
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População do Leste Asiático , Repetições de Microssatélites , Humanos , Alelos , China , População do Leste Asiático/genética , Genética Forense , Frequência do Gene , Genética Populacional , Voluntários Saudáveis , Filogenia , SangueRESUMO
PURPOSE: The preserved head of King Henri IV of France (life 1553-1610, reign 1589-1610) has survived to the present day thanks to high-quality embalming and favorable conservation conditions. The aim of this study was to examine Henry IV's upper resonant cavities and mastoids using an original and innovative forensic three-dimensional segmentation method. METHODS: The paranasal sinuses and mastoid cells of King Henri IV of France were studied by cross-referencing available biographical information with clinical and flexible endoscopic examination and computed tomography (CT-scan) imaging. The paranasal sinuses and mastoid cells were delineated and their volumes were assessed using ITK-SNAP 4.0 software (open-source). Graphical representations were created using Fusion 360® (Autodesk Inc., San Rafael, CA, USA) and MeshMixer® (Autodesk Inc., San Rafael, CA, USA). RESULTS: Paranasal sinus tomodensitometry revealed abnormalities in shape and number. Henri IV of France suffered from sinus aplasia. Neither the left sphenoid nor left frontal sinus contrasted sharply, and a remarkable pneumatization of the right clinoid processes extended throughout the height of the right pterygoid process. The total volumes of Henri IV's mastoid air-cells were estimated at 27 and 26 mL, respectively, for the right and left sides, exceeding the normal mean and the maximum of modern subjects by a wide margin. No sign of chronic ear or sinus condition was found. CONCLUSIONS: An innovative method has been developed in forensic medicine to establish hypotheses about the growth and respiratory conditions of the face.