Forensic Science, Medicine and Pathology最新文献

{"title":"Characterization of a novel SCN5A mutation associated with long QT syndrome and arrhythmogenic right ventricular cardiomyopathy in a family.","authors":"Rui Li, Da Zheng, Chunxi Lin, Yili Chen, Yang Bai, Nan Zhou, Qianhao Zhao, Wenzhao Wei, Qiuping Wu, Jiacheng Deng, Shuquan Zhao, Hui Yao, Shuangbo Tang, Bin Luo, Shuiping Liu, Li Quan, Xiaoshan Liu, Jianding Cheng, Erwen Huang","doi":"10.1007/s12024-024-00863-y","DOIUrl":"10.1007/s12024-024-00863-y","url":null,"abstract":"<p><p>Sudden cardiac death represents a significant diagnostic challenge for forensic pathologists, particularly in inherited arrhythmia syndromes or cardiomyopathies resulting from genetic defects. Molecular autopsies can reveal the underlying molecular etiology in such cases. In this study, we investigated a family with a history of sudden cardiac death to elucidate the molecular basis responsible for sudden cardiac death. The proband underwent a comprehensive forensic examination. Family members received thorough clinical evaluations, including electrocardiogram, Holter monitoring, echocardiography, and cardiac magnetic imaging. Whole exome sequencing and genetic analysis were performed on the deceased and her parents. In addition, Western blotting and patch-clamp recordings were employed to evaluate the expression and function of the mutant protein in vitro. Forensic examination diagnosed arrhythmogenic right ventricular cardiomyopathy (ARVC) as the cause of sudden death. Genetic analysis identified a novel missense mutation in SCN5A (p.V1323L), which was assessed as likely pathogenic by the ACMG guideline. Another family member carrying the mutation manifested long QT syndrome and mild cardiac fibrosis. The cellular electrophysiological study demonstrated that the mutation resulted in an enhanced late sodium current, suggesting it was a gain-of-function mutation. This study characterizes a novel SCN5A mutation that putatively causes long QT syndrome and may contribute to the development of ARVC. Our work expands the pathogenic spectrum of SCN5A variants and underscores the importance of molecular autopsy in sudden death cases, especially in those with suspected genetic disorders.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":"33-41"},"PeriodicalIF":1.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of a digital twin in supporting criminal investigations - a case report about a possible abuse.","authors":"Sven Becker, Tim Hanjo Fritzsch, Dirk Labudde","doi":"10.1007/s12024-024-00857-w","DOIUrl":"10.1007/s12024-024-00857-w","url":null,"abstract":"<p><p>As part of a comprehensive analysis, this case report presents a possible case of child maltreatment that can serve as a basis for forensic and medical examiner investigations. This case concerns the death of an infant who was approximately two months old. During a routine examination by the pediatrician at the end of May 2021, the child was found to have a normal head circumference of 31 cm. No other abnormalities were noted. On June 19, 2021, the child died, and an autopsy revealed a head circumference of 44 cm and a subdural hematoma as the cause of death. Questions arose as to who might have abused the child and when. The only evidence was a low-quality cell phone video taken by the child's parents on June 13, 2021, six days before the child's death, in which the child could be seen lying on a pillow. It was necessary to determine whether the child in this video already had an unnatural head circumference. This study presents a novel workflow that demonstrates how to analyze and deal with low quality video to answer questions like the above. The workflow demonstrates the creation of 3D scenes from digital image and video material. These 3D scenes can be used for object measurement and to support forensic and medical investigations. In the present case, where only low quality smartphone images were available, the presented workflow was used to create a 3D scene of the child lying on the pillow. In this 3D scene, it was possible to determine the child's head circumference. These measurements support the findings of the medical examiner (dated June 24, 2021) and confirm the suspicion that possible child abuse had already taken place on June 13, 2021. The innovative approach makes it possible to identify evidence of possible abuse based on a specific point in time, in this case the child's private footage. It also demonstrates the potential of 3D scene reconstruction in complex forensic and medical scenarios.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":"245-254"},"PeriodicalIF":1.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11953143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corpse or not? Two peculiar cases of misidentification.","authors":"S Plenzig, J Helmus, M Weber, M A Verhoff, V Hachmann","doi":"10.1007/s12024-024-00799-3","DOIUrl":"10.1007/s12024-024-00799-3","url":null,"abstract":"<p><p>Irrespective of whether they are intended for collectors or for the fetish market, dolls are being produced to look more and more realistic with such a degree of life-like detail that they can be mistaken for a real person. This paper reports two cases of misidentification due to this increasing similarity: In the first case, a sex doll was mistaken for a corpse; in the second case, a corpse was mistaken for a doll. While in the latter case, only medical laypersons were at the discovery site, in the first case, an emergency doctor had issued a medical certificate of death for the purported corpse. The medicolegal examiner who was subsequently called to the scene could still rectify the misconception on-site. Mistakes of this nature are likely rare phenomena. It, however, remains to be seen if the increasingly life-like appearance of dolls on the one hand, and the increasingly doll-like appearance of some people, e.g., through cosmetic surgery, will lead to a rise in such cases. To avoid misidentification as in the first reported case, it is essential to prepare medical students well for the task of performing a primary external postmortem examination; it is equally important that fully-trained doctors regularly refresh their expertise in this respect.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":"314-318"},"PeriodicalIF":1.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11953104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140131129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dental color measurement to estimate age in adults: a systematic review and meta-analysis.","authors":"Jaime Martín-Martín, Ignacio Santos, María J Gaitán-Arroyo, Juan Suarez, Leticia Rubio, Stella Martín-de-Las-Heras","doi":"10.1007/s12024-024-00798-4","DOIUrl":"10.1007/s12024-024-00798-4","url":null,"abstract":"<p><p>Age estimation is a major challenge in anthropology and forensic odontology laboratories, as well as in judicial settings, as one of the tools used in human identification. The aim of this study was to evaluate the usefulness of age estimation methods based on the accurate measurement of tooth color changes. A systematic review was carried out following the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and in compliance with Cochrane criteria recommendations (PROSPERO registration number CRD 42022343371). An electronic search was performed in the following databases: Pubmed, Web of Science, Medline, Current Contents Connect, SciELO, KCI-Korean Journal Database, Derwent Innovations Index and Russian Citation Index. The search strategy yielded a total of 18 articles. A randomized meta-analysis model of the results for the CIE L*a*b* color variables stratified by age (less than 30 years, 30-60 years, 60 years and older) was performed with 9 of the 18 studies included in this systematic review. According to our results, sex and location of color measurement are the most influential factors in color estimation. All studies were carried out in healthy anterior teeth by spectrophotometry as the most commonly used method for color measurement, with CIE L*a*b* being the most commonly analyzed parameters. Studies based on age as a dependent variable showed R² values between 0.28 and 0.56, being higher in ex vivo teeth. Studies based on age as an independent variable showed R² values ranging from 0.10 to 0.48. The random model showed high heterogeneity for the L*, a* and b* parameters in all age groups, which is explained by discrepancies in age range and non-standardized conditions for color measurement. This systematic review highlights the need to protocolize age estimation studies that measure tooth color, in order to apply this method in different forensic settings.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":"382-400"},"PeriodicalIF":1.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11953101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140065121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Self-mutilation: a systematic review.","authors":"Matheus Medeiros Nunes, Caio Rodrigues Maia, Paulo Roberto de Andrade Santos, Antônio de Lisboa Lopes Costa, Sérgio Adriane Bezerra de Moura, Pedro Paulo de Andrade Santos","doi":"10.1007/s12024-024-00809-4","DOIUrl":"10.1007/s12024-024-00809-4","url":null,"abstract":"<p><p>Self-mutilation lesions can represent a clinical diagnosis challenge for healthcare professionals, as patients do not admit to self-mutilation. This leads to failed diagnoses due to the similarity of this condition to other diseases. Searches on the subject were carried out at the PubMed, Periódicos Capes, Scopus, Science Direct and WoS databases, according to the following inclusion criteria: articles in English, Portuguese or Spanish, published from 2018 to June 2023, encompassing case reports, case series and literature reviews. Men are slight more affected by self-mutilation injuries, also presenting the most serious lesions. Self-mutilation injuries are reported globally, mostly in the Asian and American continents. Clinical presentations are varied, but morphology is, in most cases, associated to the form/instrument used for self-mutilation. Greater evidence of diagnosed mental disorders in women and underreporting of these cases in men due to low demands for specialized treatment are noted. A higher prevalence of self-mutilation lesions was verified for men, affecting a wide age range, with the highest number of cases in the USA. The most affected body areas are arms and external genitalia, mostly due to knife use. An association between self-mutilation injuries and mental disorders is clear, with most cases being previously undiagnosed.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":"430-442"},"PeriodicalIF":1.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140853688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Applications of forensic anthropology methodology: accuracy of virtual face reproductions performed on the Tenchini collection.","authors":"Laura Donato, Douglas H Ubelaker, Luigi Tonino Marsella, Valentina Bugelli, Jessika Camatti, Michele Treglia, Rossana Cecchi","doi":"10.1007/s12024-024-00839-y","DOIUrl":"10.1007/s12024-024-00839-y","url":null,"abstract":"<p><p>Facial reproduction validation uses the methodology typical of forensic anthropology to confirm the accuracy of three-dimensional reproductions of faces. Achieving high accuracy in virtual facial reproductions is still under study. In the present paper, the Tenchini collection, which contains wax reproductions of prisoners' faces and their skulls, was used. By creating facial reproductions on skulls from this collection, the result was compared with the real face of the person to whom the skull belongs. The three-dimensional volume of each examined skull of Tenchini collection was acquired via CT scan and photogrammetry. Subsequently, the virtual reproduction of each skull was processed using three-dimensional graphics software (ZBrush, Pixologic®). The morphological comparison parameters used in the field of personal identification by forensic anthropology were used. The blind procedure required the operator to see the mask subsequent to the facial reproduction phase, so that the facial reproduction cannot exploit the information that knowledge of the mask would have produced. The parameters used in the study of facial reproductions have shown discrepancies between the characteristics of the masks and the facial reproductions, partly expected because due to the lack of soft tissue on the skull. However, a high degree of accuracy in the facial reproductions performed due to the applied methodology was documented. The present study allowed us to observe how these parameters can be useful to study the accuracy of facial reproduction and identify what difficulties are encountered in producing a result close to the real appearance.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":"203-209"},"PeriodicalIF":1.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141096875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case report of complex suicide in physician: attempt drugs poisoning and adhesive tape asphyxia.","authors":"Gennaro Baldino, Stefano Vanin, Giorgia Burrascano, Elena Forzese, Alessio Asmundo, Elvira Ventura Spagnolo","doi":"10.1007/s12024-024-00836-1","DOIUrl":"10.1007/s12024-024-00836-1","url":null,"abstract":"<p><p>Complex suicides are rare occurrences that can be categorized into planned (or primary) cases and unplanned (or secondary) cases. Additionally, individuals often select suicide methods based on their availability and accessibility. The body of a 58-year-old man was discovered deceased inside his medical office. He was found seated on the waiting room sofa, with his airways obstructed by several layers of adhesive tape wrapped around his head. An intravenous needle was observed in his left arm, and on the table in front of him, an empty 50 ml syringe, two empty vials of 10 ml potassium chloride, and an empty 10 mg vial of Valium (diazepam) were found. A roll of adhesive tape, similar to the one around his head, was also present. The autopsy, conducted 36 h after the body's discovery, revealed therapeutic concentrations of diazepam and its metabolite nordiazepam in the blood samples, while potassium chloride was not detected. Integrating forensic findings obtained from autopsy, histology, and other postmortem investigation, including toxicological analysis, can aid in defining suicidal behavior and preventing misinterpretation, particularly in differentiating diagnosis between homicide and suicide. It is crucial to consider circumstantial data and professional knowledge in such cases.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":"302-306"},"PeriodicalIF":1.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141261448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Partial amputation due to tongue bite in death-associated with eclampsia.","authors":"Matías Arroyo-Navarrete, Lourdes Gómez-Jiménez, Gabriel M Fonseca","doi":"10.1007/s12024-024-00844-1","DOIUrl":"10.1007/s12024-024-00844-1","url":null,"abstract":"<p><p>Eclampsia is one of the most dangerous complications of pregnancy and has a high incidence in developing countries. It is characterized by coma and the occurrence of generalized tonic-clonic seizures in pregnant women with hypertension. Deep bites on the tongue and other orofacial injuries have been described as consequences of these seizures. We present a case of death associated with eclampsia in which the bite during the seizure episode caused almost total amputation of an enlarged tongue (macroglossia). The medico-legal value of this finding and the situation due to antecedent pathological conditions and lack of routine screening in pregnant women who may migrate legally or illegally to give birth with better medical care are discussed.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":"469-471"},"PeriodicalIF":1.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141186329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prominent black esophagus, Wischnewsky spots, and black duodenum in a fatal hypothermia case with an underlying diabetic ketoacidosis.","authors":"Shojiro Takasu, Sari Matsumoto, Kimiharu Iwadate","doi":"10.1007/s12024-024-00837-0","DOIUrl":"10.1007/s12024-024-00837-0","url":null,"abstract":"<p><p>Hypothermia can occur in patients with diabetic ketoacidosis (DKA), and these two conditions can exacerbate each other. Fatal hypothermia and DKA have overlapping features and findings such as Wischnewsky spots (WS), black esophagus, basal subnuclear vacuolization in the renal tubule, dehydration, and increased acetone levels. Therefore, it may be challenging to differentiate or clarify the context of these two conditions. Herein, we report a case of a 49-year-old man with type 1 diabetes who was found lying in his house in mid-winter. He experienced cardiopulmonary arrest 10 h after the initial discovery and died at the hospital. On autopsy, florid left cardiac blood was observed. Black discoloration of the distal part of the esophageal mucosa, widespread WS in the gastric mucosa, and black discoloration of the duodenal mucosa were observed. Histologically, neutrophil infiltration in the esophageal mucosa, neutrophil infiltration and bleeding in the gastric mucosa, basal subnuclear vacuolization and Armanni-Ebstein lesion in the renal tubule epithelium in the kidney, and hyalinization of the islets of Langerhans were observed in the pancreas. Blood acetone and β-hydroxybutyrate levels were 538 µg/mL and 8947 µmol/L, respectively. Glycated hemoglobin A1c and glucose levels were 16.2% and 883 mg/dL, respectively, while C-reactive protein level was 3.64 mg/dL. In conclusion, obnubilation due to DKA was assumed to be the underlying cause of hypothermia, and the combination of these two conditions led to the outcome of death. The concurrent presence of these conditions likely contributed to the conspicuous mucosal findings in the upper gastrointestinal tract.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":"307-313"},"PeriodicalIF":1.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141310490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Forensic significance of VOCs profiling in decayed ante- and post-mortem injuries by GC×GC-TOF/MS.","authors":"Damascene Nteziryayo, Jing Wang, Hongyan Qian, Ran An, Gao Baoyao, Hua Liu, Min Liang, Xinshe Liu, Tao Li, Jeannette Uwiragiye, Phazha Joseph","doi":"10.1007/s12024-024-00843-2","DOIUrl":"10.1007/s12024-024-00843-2","url":null,"abstract":"<p><p>Accurately identifying and differentiating the types of injuries in decomposed corpses is a major challenge in forensic identification. Forensic investigations involving decomposed cadavers pose challenges in determining the cause of death. Traditional methods often lack conclusive evidence. However, the implementation of advanced analytical techniques, such as comprehensive two-dimensional gas chromatography coupled with time-of-flight mass spectrometry (GC × GC-TOF/MS), shows promise in overcoming these limitations, but the potential in this area remains limited. Therefore, this study aims to bridge this gap by exploring the potential of GC × GC-TOF/MS in the analysis of volatile organic compounds (VOCs) changes within decaying ante- and post-mortem injuries.The research emphasizes the forensic significance of VOCs changes in decomposed cadavers. We used GC × GC-TOF/MS analysis to identify the specific volatile compounds in putrefied corpse tissue samples from mice. The GC × GC-TOF/MS analysis results showed that under winter conditions, PC1 explained 57.16% of the variance, and PC2 explained 25.23% of the variance; while under summer conditions, PC1 explained 71.89% of the variance, and PC2 explained 24.49% of the variance. This demonstrates the potential of GC × GC-TOF/MS in identifying specific VOCs present in tissue samples that can serve as potential biomarkers for distinguishing between antemortem and postmortem injury. GC × GC-TOF/MS analysis revealed distinct VOC patterns in both conditions. Comprehensive use of GC × GC-TOF/MS analysis enhances accuracy in identifying and characterizing ante- and post-mortem injuries in decomposed cadavers. This study can significantly contribute to the field of forensic medicine and improve the accuracy of forensic investigations.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":"138-156"},"PeriodicalIF":1.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}