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Comparison of visible-light and infrared photography for visualizing hematomas postmortem 比较可见光和红外线摄影对尸检血肿的观察效果。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-15 DOI: 10.1016/j.forsciint.2024.112300
Joel Bottoni , Thomas Rost , Holger Wittig , Melanie Bauer , Eva Scheurer , Claudia Lenz
Photography is essential in forensic medicine documentation. While visible-light photography uses the human eye's spectrum (approximately 380–780 nm), infrared (IR) photography captures wavelengths invisible to the naked eye (approximately 700–1100 nm). This study aimed to assess the reliability of IR photography in detecting subcutaneous hematomas in deceased individuals. In postmortem examinations of 23 individuals with different skin tones, 43 hematomas were evaluated; for ethical reasons, hematomas on the face, neck, hands, or feet were excluded. Standardized photographs were taken using two different cameras: a Nikon D810 (visible-light) and a Nikon D800E modified with a 700 nm IR filter. Subsequently, tissue samples including the hematomas were excised. Hematoma density was assessed on paraffin-embedded samples using a Keyence VHX 5000 digital microscope. Raw IR photographs were processed with Photoshop to obtain tonal values of the darkest hematoma spot and the brightest spot of the surrounding intact tissue. Visual inspection of the excised samples confirmed that infrared photography accurately depicted 100 % of the 43 hematomas, whereas using visible-light photography, only 53.5 % were well visible and 46.5 % poorly visible. Tonal values correlated positively with microscopic densities of the hematomas, yielding a moderate to strong linear correlation coefficient of 0.70 (p < 0.001). In conclusion, IR photography is highly reliable in visualizing subcutaneous hematomas and has clear advantages over visible-light photography. Our results suggest that IR photography could be valuable as an additional tool in depicting suspected hematomas in living individuals.
摄影在法医学记录中至关重要。可见光摄影使用的是人眼的光谱(约 380-780 纳米),而红外线(IR)摄影捕捉的是肉眼看不见的波长(约 700-1100 纳米)。本研究旨在评估红外摄影在检测死者皮下血肿方面的可靠性。在对 23 名不同肤色的死者进行的尸检中,对 43 个血肿进行了评估;出于道德原因,脸部、颈部、手部或脚部的血肿未包括在内。我们使用两台不同的相机拍摄了标准化照片:尼康 D810(可见光)和尼康 D800E(改装了 700 纳米红外滤光片)。随后,切除包括血肿在内的组织样本。使用 Keyence VHX 5000 数码显微镜评估石蜡包埋样本的血肿密度。使用 Photoshop 对原始红外照片进行处理,以获得血肿最暗处和周围完整组织最亮处的色调值。对切除样本的目视检查证实,红外摄影准确描绘了 43 个血肿中的 100%,而使用可见光摄影时,只有 53.5% 的血肿清晰可见,46.5% 的血肿模糊不清。色调值与血肿的显微密度呈正相关,线性相关系数为 0.70(p<0.05)。
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引用次数: 0
Forensic footwear examination: A systematic review of the existing literature 法医鞋类检验:现有文献的系统回顾。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-14 DOI: 10.1016/j.forsciint.2024.112295
Danyela Kellett , Sanaz Zolghadriha , Ruth Morgan , David Lagnado , Sherry Nakhaeizadeh
Systematic reviews have been shown to be useful tools mainly in terms of identifying research areas, but the approach is less common in forensic science. Systematic reviews in forensic science have generally focused on topics closely linked to medicine or to the general practice of forensic science, such as cognitive bias or misleading evidence. The value of a systematic review is dependent on its transparency and reproducibility and, it is therefore of benefit to follow established guidelines, such as those published by the Cochrane Collaboration and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). This paper applies these guidelines to conduct an effective systematic review of the types of research that have addressed forensic footwear examination. Using this approach, it was found that overall, there is a significant body of research that has been undertaken addressing forensic footwear examination, with 427 papers in the scope of the systematic review. The results showed that the largest proportion of papers published reported the use of an algorithm to produce an automated system to code footwear marks (25.1 %). However, only a small number of papers (1.2 %) related to the actual coding process with limited research into the use of footwear intelligence (2.1 %) and linking of scenes (0.7 %) which would follow on from pattern coding. Papers relating to the recovery and enhancement of footwear marks most frequently reported in the areas of casting (7.3 %), photography (6.3 %), chemical enhancement of marks in blood (5.9 %) and other chemical enhancement (5.6 %). A relatively small proportion of papers identified considered interpretation (15.5 %) and the characteristics of a footwear mark (12.2 %), with the former predominantly focused on general interpretation (5.9 %) and the latter on damage or randomly acquired features (6.1 %). Overall, the review suggested that more research is needed to address the use of footwear intelligence; to understand the properties of footwear prints used to compare and evaluate footwear marks; and to develop a robust, transparent and consistent method to interpret and express the significance of a footwear comparison. The latter would facilitate the clear and unambiguous communication of findings to the Criminal Justice System as a whole, including the expression of the uncertainty of the evidence.
系统综述主要在确定研究领域方面被证明是有用的工具,但这种方法在法医学中并不常见。法医学中的系统综述通常侧重于与医学或法医学一般实践密切相关的主题,如认知偏差或误导性证据。系统性综述的价值取决于其透明度和可重复性,因此,遵循既定的指导方针是有益的,例如 Cochrane 协作组织发布的指导方针和系统性综述和元分析首选报告项目(PRISMA)。本文运用这些指南对法医鞋类检查的研究类型进行了有效的系统综述。通过这种方法,我们发现,总体而言,针对法医鞋类检查的研究数量可观,有 427 篇论文纳入了系统综述的范围。结果显示,在已发表的论文中,使用算法生成鞋印自动编码系统的论文所占比例最大(25.1%)。然而,只有少数论文(1.2%)与实际编码过程有关,对鞋类智能的使用(2.1%)和场景链接(0.7%)的研究有限,而这是模式编码的后续工作。有关恢复和增强鞋印的论文最常见的领域是铸造(7.3%)、摄影(6.3%)、血印化学增强(5.9%)和其他化学增强(5.6%)。在已鉴定的论文中,考虑解释(15.5 %)和鞋印特征(12.2 %)的论文所占比例相对较小,前者主要集中于一般解释(5.9 %),后者主要集中于损坏或随机获得的特征(6.1 %)。总体而言,审查建议需要开展更多研究,以解决鞋类情报的使用问题;了解用于比较和评估鞋类印记的鞋类指纹的特性;以及制定一种可靠、透明和一致的方法来解释和表达鞋类比较的意义。后者将有助于向整个刑事司法系统明确无误地传达调查结果,包括表达证据的不确定性。
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引用次数: 0
According to forensic science recommendations, are carbon dots capable of reliably developing latent fingerprints? 根据法医学建议,碳点是否能够可靠地显现潜在指纹?
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-12 DOI: 10.1016/j.forsciint.2024.112291
Daniel da Silva Carvalho , Bernardo José Munhoz Lobo , Atailson Oliveira da Silva , Marcelo Henrique Sousa , Sebastião William da Silva
Carbon dots (CDs) are zero-dimensional carbon nanomaterials that have been subject of considerable interest due to their remarkable electronic and optical characteristics. Their adjustable properties have gathered attention in different fields, including biological sensing, drug delivery, photodynamic therapy, photocatalysis, solar cells, and latent fingerprint development. In forensic science, the frequently reported outstanding photoluminescence behavior and biocompatibility of CDs are particularly important. Therefore, the objective of this systematic review was to assess the reliability of the results presented in studies proposing CD-based solutions for latent fingerprint development. By standardizing procedures, forensic science guidelines are valuable references that provide a framework for comparing new development materials with established ones. These publications were used to generate key points that allowed for a more objective evaluation of the reviewed studies. Our analysis revealed that most of the studies were conducted under rather limited conditions, with significant potential for bias in the presentation and evaluation of the new results achieved by the new CD-based developmental materials.
碳点(CD)是一种零维碳纳米材料,因其显著的电子和光学特性而备受关注。它们的可调节性能在生物传感、药物输送、光动力疗法、光催化、太阳能电池和潜指纹开发等不同领域引起了人们的关注。在法医学中,经常报道的 CD 的出色光致发光性能和生物相容性尤为重要。因此,本系统综述的目的是评估提出基于光盘的潜伏指纹显现解决方案的研究结果的可靠性。通过标准化程序,法医学指南是宝贵的参考资料,为比较新的显影材料和已有材料提供了框架。我们利用这些出版物生成要点,以便对所审查的研究进行更客观的评估。我们的分析表明,大多数研究都是在相当有限的条件下进行的,在介绍和评价基于 CD 的新显影材料所取得的新成果时,很可能会出现偏差。
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引用次数: 0
Post-mortem iris biometrics – Field, applications and methods 死后虹膜生物识别技术--领域、应用和方法。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-12 DOI: 10.1016/j.forsciint.2024.112293
Mateusz Trokielewicz , Piotr Maciejewicz , Adam Czajka
Post-mortem iris recognition (PMIR) is a recently developed area of expertise falling into the broader category of biometric methods utilizing human iris features for the purpose of automatic or semi-automatic establishing or confirming one’s identity. Yet, contrary to traditional iris recognition applied to living individuals, post-mortem biometrics presents forensic experts and scientists with challenges that have previously been unknown and require novel approaches and development of new skills. This paper summarizes the current state of the art of research in this area, both with respect to studies exploring the feasibility of iris recognition in a forensic setting, as well as the challenges still pervasive in the scientific community and potential ways to overcome them. We argue that post-mortem iris biometrics can serve both as a way for improving iris recognition, as well as provide forensic examiners tools for extending knowledge and skills in their respective field.
死后虹膜识别(PMIR)是最近发展起来的一个专业领域,属于利用人体虹膜特征自动或半自动确定或确认身份的生物识别方法的大类。然而,与应用于活人的传统虹膜识别技术不同,死后生物识别技术给法医专家和科学家带来了以前未知的挑战,需要新方法和新技能的开发。本文总结了这一领域的研究现状,既包括探索法医环境下虹膜识别可行性的研究,也包括科学界仍然普遍存在的挑战以及克服这些挑战的潜在方法。我们认为,死后虹膜生物识别技术既可以作为提高虹膜识别率的一种方法,也可以为法医检验人员提供扩展各自领域知识和技能的工具。
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引用次数: 0
Smart tech meets forensics: Enhancing crime scene investigation with digital simulations 智能技术与法医学的结合:利用数字模拟加强犯罪现场调查。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-12 DOI: 10.1016/j.forsciint.2024.112296
Jing Ma
This study proposes the integration of artificial intelligence (AI), specifically reinforcement learning and immersive human-computer interaction, to enhance crime scene investigation (CSI) training and assessment in public security colleges and universities. By incorporating these technologies, the aim is to provide a more systematic, scientific, and efficient learning experience for students, while ensuring fair and impartial evaluation. The technical roadmap and implementation strategy for applying AI and immersive interaction in CSI training are outlined, along with an application plan for different stages of the training and assessment process. This integration seeks to standardize and optimize CSI training, improving both intelligence and efficiency while ensuring fairness in evaluations.
本研究建议整合人工智能(AI),特别是强化学习和沉浸式人机交互,以加强公安院校的犯罪现场调查(CSI)培训和评估。通过融入这些技术,旨在为学生提供更系统、更科学、更高效的学习体验,同时确保评价的公平公正。本文概述了在 CSI 培训中应用人工智能和沉浸式交互的技术路线图和实施策略,以及培训和评估过程不同阶段的应用计划。这种整合旨在规范和优化 CSI 培训,提高智能和效率,同时确保评估的公平性。
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引用次数: 0
Location and accumulation of primary head injuries, and prevalence of secondary injuries among neuropathologically examined medico-legal autopsy cases – A comparative study of falls and assaults 经神经病理学检查的法医尸检病例中原发性头部损伤的位置和累积情况,以及继发性损伤的发生率 - 一项关于跌倒和袭击的比较研究。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-08 DOI: 10.1016/j.forsciint.2024.112294
Teemu Silver , Petteri Oura
Even though traumatic brain injury (TBI) is a major cause of death globally, detailed data on the location and accumulation of primary head injuries, and prevalence of secondary injuries in distinct injury circumstances such as falls and assaults is limited. This study aimed to highlight the differences in injury patterns between falls and assaults among neuropathologically examined medico-legal autopsy cases. Data were collected on a total of 128 cases from the Forensic Medicine Unit, Finnish Institute for Health and Welfare, between the years 2016 and 2022. All cases had suspected or confirmed acute head injuries and underwent a full neuropathological examination. Background and circumstantial variables, as well as the presence of head and brain injuries, were extracted from the medico-legal autopsy case files. Comparative analyses were conducted between assured falls (n = 26) and assaults (n = 23). Any primary head injury was observed in 57.0 % of the full sample; the most common primary injuries were scalp haemorrhage (47.7 %), subarachnoid haemorrhage (SAH) (24.2 %), and diffuse traumatic axonal injury (13.3 %). Assault cases showed a significantly higher prevalence of scalp haemorrhage (82.6 % vs. 46.2 %, p = 0.016) and SAH (52.2 % vs. 11.5 %, p = 0.004) compared to fall cases. In assault cases, the left hemisphere was clearly more frequently affected than the right one (91.3 % vs. 65.2 %). Of secondary injuries, brain oedema was more common in assaults than falls (47.8 % vs. 7.7 %, p = 0.003). In conclusion, this study highlights differences in head and brain injury patterns between falls and assaults. Scalp haemorrhage and SAH are more common in assaults than falls. Assaults appear to lead to a higher frequency and diversity of injuries, particularly in the left hemisphere.
尽管创伤性脑损伤(TBI)是全球死亡的主要原因之一,但有关原发性头部损伤的位置和累积情况,以及跌倒和袭击等不同损伤情况下继发性损伤发生率的详细数据却十分有限。本研究旨在突出经神经病理学检查的法医尸检病例中坠落伤和袭击伤在损伤模式上的差异。研究收集了2016年至2022年期间芬兰卫生与福利研究所法医组共128例病例的数据。所有病例均疑似或确诊为急性颅脑损伤,并接受了全面的神经病理学检查。背景和环境变量,以及是否存在头部和脑部损伤,均从医学法律尸检病例档案中提取。对放心摔倒(26 例)和袭击(23 例)进行了比较分析。在全部样本中,57.0%的病例出现了原发性头部损伤;最常见的原发性损伤是头皮出血(47.7%)、蛛网膜下腔出血(SAH)(24.2%)和弥漫性创伤性轴索损伤(13.3%)。与摔伤病例相比,袭击病例头皮出血(82.6% 对 46.2%,P = 0.016)和蛛网膜下腔出血(52.2% 对 11.5%,P = 0.004)的发生率明显更高。在袭击病例中,左半球明显比右半球更常受到影响(91.3% 对 65.2%)。在继发性损伤中,袭击造成的脑水肿比跌倒造成的脑水肿更常见(47.8% 对 7.7%,P = 0.003)。总之,本研究强调了跌倒与袭击之间头部和脑部损伤模式的差异。头皮出血和 SAH 在袭击中比跌倒更常见。袭击似乎导致更高频率和更多样化的伤害,尤其是在左半球。
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引用次数: 0
Geographical classification of population: Analysis of amino acid in fingermark residues using UHPLC-QQQ-MS/MS combined with machine learning 人口地理分类:利用超高效液相色谱-质谱-质谱/质谱结合机器学习分析指印残留物中的氨基酸。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-08 DOI: 10.1016/j.forsciint.2024.112273
Lu-Chuan Tian (田陆川), Shi-Si Tian (田师思), Ya-Bin Zhao (赵雅彬)

Objective

To determine the living regions of individuals based on amino acids in fingermark residues and to establish a rapid and accurate regional classification method using machine learning. Methods: A total of 71 fingermark donors from six different provinces in various regions of China were selected. The content of 18 amino acids in their fingermarks was detected using UHPLC-QQQ-MS/MS. Classification models were established using various machine learning algorithms, and the cross-validation accuracy of 72 combinations, including feature engineering, classification algorithms, and optimization algorithms, was compared. Results: UHPLC-QQQ-MS/MS successfully quantified 16 amino acids. Significant differences in the relative content of amino acids were found between the fingermarks from the eastern and western regions of China, as well as among neighboring provinces. The combination of SFS+SVM+BO was identified as the optimal classification model, achieving an accuracy of 90.14 %. Conclusion: The study found regional differences in the relative content of amino acids in fingermarks and established a regional classification method combining UHPLC-QQQ-MS/MS and machine learning. The method developed in this study can be applied to incomplete or distorted fingermarks, and the experimental results can be directly used in police investigations. This research uncovers the multidimensional information carried by fingerprint substances, demonstrating innovation and application value. It not only saves and shortens investigation time and provides investigative leads, but also enables previously unusable physical evidence to play a role again, enhancing the profiling of suspects.
目的根据指痕残基中的氨基酸确定个体的生活区域,并利用机器学习建立快速准确的区域分类方法:方法:选取来自中国不同地区 6 个不同省份的 71 名指痕供体。采用超高效液相色谱-质谱-质谱/质谱联用技术检测了指印中 18 种氨基酸的含量。采用多种机器学习算法建立分类模型,比较了特征工程、分类算法和优化算法等72种组合的交叉验证准确性:结果:UHPLC-QQQ-MS/MS 成功定量了 16 种氨基酸。结果:超高效液相色谱-质谱-质谱/质谱法成功定量了 16 种氨基酸,发现中国东部和西部地区以及相邻省份的指印之间氨基酸相对含量存在显著差异。SFS+SVM+BO组合被确定为最佳分类模型,准确率达到90.14%:该研究发现了指印中氨基酸相对含量的区域差异,并建立了超高效液相色谱-质谱-质谱/质谱联用和机器学习相结合的区域分类方法。本研究开发的方法可用于不完整或扭曲的指痕,实验结果可直接用于警方调查。该研究揭示了指纹物质所携带的多维信息,具有创新性和应用价值。它不仅节约和缩短了侦查时间,提供了侦查线索,还使以前无法使用的物证重新发挥作用,增强了对犯罪嫌疑人的特征分析。
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引用次数: 0
Forensic science: Where to from Here? 法医学:何去何从?
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-08 DOI: 10.1016/j.forsciint.2024.112285
Alastair Ross , Chris Lennard , Claude Roux
‘Where to from Here’ (WTFH) was the theme chosen for the 2023 meeting of the International Association of Forensic Sciences (IAFS). This theme reflects the fact that forensic science is evolving rapidly, not only within individual sub-disciplines but, critically, across the whole forensic science landscape. Identifying and predicting evolutionary change will enable a more focused and constructive future for forensic science. The IAFS meeting originally scheduled for 2020 was cancelled due to the global impact of the COVID-19 pandemic. However, on 18 May 2021, an IAFS Virtual Event launched the Sydney Declaration as an integral part of the WTFH initiative. The Sydney Declaration articulates a definition and seven principles for forensic science and provides a much-needed platform for forensic science into the future. It is aspirational, not focused on organisations, techniques or protocols, and provides a shared understanding of forensic science and its principles. The 2023 IAFS meeting built on the Sydney Declaration, with five themes developed as the basis for eliciting information from delegates related to the WTFH concept. The themes were: (i) integration and harmonisation; (ii) digital transformation; (iii) research; (iv) education and training; and (v) technology. Information across these themes was gathered via short, sharply focused panel discussions in the final session of each of the 22 disciplines represented at the meeting. In addition, there was a panel-based seminar on the Sydney Declaration and a panel-based plenary session on the conference theme. Meeting delegates were also able to provide their thoughts during the meeting, and for a two-week post-conference window, via a dedicated meeting app. Information from all of these sources has been collated to provide a consolidated WTFH landscape for forensic science.
国际法医学协会(IAFS)2023 年会议的主题是 "何去何从"(WTFH)。这一主题反映了一个事实,即法医学正在迅速发展,这不仅体现在各个分支学科内部,更重要的是体现在整个法医学领域。识别和预测演变变化将使法医学的未来更具针对性和建设性。由于 COVID-19 大流行病对全球的影响,原定于 2020 年举行的 IAFS 会议被取消。然而,2021年5月18日,IAFS虚拟活动发布了《悉尼宣言》,作为WTFH倡议的组成部分。悉尼宣言》阐明了法医学的定义和七项原则,为法医学的未来提供了一个亟需的平台。该宣言具有远大目标,不以组织、技术或规程为重点,提供了对法医学及其原则的共同理解。2023年国际法医科学联合会会议以《悉尼宣言》为基础,制定了五个主题,作为向代表们征集与WTFH概念有关的信息的依据。这些主题是(i) 整合与协调;(ii) 数字化转型;(iii) 研究;(iv) 教育与培训;(v) 技术。在会议的最后一次会议上,与会的 22 个学科的每个学科都进行了简短、重点突出的小组讨论,以收集这些主题的信息。此外,还举行了关于《悉尼宣言》的小组研讨会和关于会议主题的小组全体会议。会议代表还可以在会议期间以及会后两周内通过会议专用应用程序发表感想。对所有这些来源的信息进行了整理,为法医学提供了一个综合的WTFH景观。
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引用次数: 0
Detection of organic explosive residues from outdoor detonations using confocal Raman microscopy 利用共焦拉曼显微镜检测户外爆炸的有机爆炸物残留物。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-07 DOI: 10.1016/j.forsciint.2024.112292
Jared Estevanes, Geraldine Monjardez
The detection of post-blast residues in the aftermath of an explosion involving organic explosives with spectroscopic techniques is challenging as, typically, no microscopically visible unreacted particles remain after the explosion. However, some low-order explosions may leave visible particles behind, as well as the presence of significant amounts of unreacted material. In this study, four authentic open-air detonations using two simulated improvised explosive devices (IEDs) containing a mixture of military explosives (TNT and RDX), and two IEDs containing smokeless powder were conducted. The various materials they contained, including plastic, wood, and metal, were swabbed and extracted with acetone to create post-blast liquid extracts. The extracts were then dried and examined using confocal Raman microscopy, alongside a 50 ppm reference mixture of smokeless powder constituents, which was created to evaluate the effects of Raman scattering within the full smokeless powder mixture. Smokeless powder constituents, such as ethyl centralite, diphenylamine, nitroglycerin, and dibutyl phthalate, were successfully identified by comparison to the reference mixture on most substrates, with the exception of the paint stick (wood) substrate. TNT/RDX was also able to be identified in the extracts, with RDX crystals being observed in some dried extracts after solvent evaporation. However, the detection of TNT/RDX in the second detonation was unsuccessful, possibly due to an explosive chain reaction that was highly efficient. No trends were seen in substrate affinity for TNT/RDX. The challenges and benefits with the developed methodology for the detection of organic explosive residues from a variety of substrates are discussed in detail.
使用光谱技术检测有机爆炸物爆炸后的残留物具有挑战性,因为通常情况下,爆炸后不会留下微观可见的未反应颗粒。然而,某些低阶爆炸可能会留下可见颗粒,以及大量未反应物质。在本研究中,使用两个含有军用炸药(TNT 和 RDX)混合物的模拟简易爆炸装置和两个含有无烟火药的简易爆炸装置进行了四次真实的露天爆炸。对其中包含的各种材料(包括塑料、木材和金属)进行拭擦并用丙酮提取,以获得爆炸后的液体提取物。然后将提取物烘干,使用共焦拉曼显微镜与 50 ppm 的无烟火药成分参考混合物一起进行检测,以评估拉曼散射在全部无烟火药混合物中的影响。通过与大多数基底(油漆棒(木质)基底除外)上的参考混合物进行比较,成功鉴定出了无烟火药成分,如仲丁子乙酯、二苯胺、硝化甘油和邻苯二甲酸二丁酯。TNT/RDX 也能在提取物中被鉴定出来,在一些溶剂蒸发后的干燥提取物中可以观察到 RDX 结晶。不过,在第二次爆炸中未能成功检测到 TNT/RDX,这可能是由于爆炸链反应的效率很高。在底物对 TNT/RDX 的亲和性方面没有发现任何趋势。详细讨论了所开发的从各种基质中检测有机爆炸残留物的方法所面临的挑战和益处。
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引用次数: 0
Evaluating the effects of silent genes on pairwise kinship testing 评估沉默基因对配对亲缘关系测试的影响。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-05 DOI: 10.1016/j.forsciint.2024.112290
Da Yang , Mei Li Li , An Qi Wei
Short tandem repeat (STR) loci are frequently utilized in kinship testing, and mutations of a single base occurring in the primer-binding region of the STR locus can result in the failure of allelic amplification and the emergence of silent genes. Silent genes are not observable and, therefore, are excluded from the genotypes assessed. Pedigree likelihood ratios (LRs) are often employed in kinship testing to determine the likelihood of different kinship scenarios. LR values are derived from various types of genotypes. LRexact values are based on the exact or actual genotypes, which may include silent genes. Conversely, LRobserve values are based on observed genotypes that exclude silent genes, while LRadjust values incorporate all potential genotypes, including both observed and those with silent genes. Initially, the formulae for LRs in 1st degree, 2nd degree, and 3rd degree kinship testing are presented according to different genotype forms of pairwise individuals. The correctness of these formulae is then verified using the Familias software, and the results are compared with those from the GeneVisa software (www.genevisa.net). Lastly, the simulation modules of GeneVisa are used to assess the impact of silent genes on pairwise kinship testing. The findings indicate that the overall impact of silent genes is minimal, although in some cases, the effects can be relatively significant. The influence of silent genes generally decreases as the kinship relationship becomes more distant. In specific kinship tests, the effect of silent genes is reduced when the individuals are unrelated compared to when there is a kinship relationship. Utilizing the LRadjust value for 1st degree and 2nd degree kinship testing can substantially mitigate the effects of silent genes.
短串联重复(STR)基因座经常被用于亲缘关系检测,而 STR 基因座引物结合区发生的单碱基突变可导致等位基因扩增失败和沉默基因的出现。沉默基因是无法观察到的,因此被排除在评估的基因型之外。在亲缘关系检验中,通常会使用世系似然比(LR)来确定不同亲缘关系的可能性。LR 值来自不同类型的基因型。LRexact 值基于准确或实际的基因型,其中可能包括沉默基因。相反,LRobserve 值基于观察到的基因型,其中不包括沉默基因,而 LRadjust 值包含所有潜在的基因型,包括观察到的基因型和包含沉默基因的基因型。首先,根据成对个体的不同基因型形式,列出了一级、二级和三级亲缘关系检验中的 LR 计算公式。然后使用 Familias 软件验证这些公式的正确性,并将结果与 GeneVisa 软件(www.genevisa.net)的结果进行比较。最后,GeneVisa 的模拟模块用于评估沉默基因对配对亲缘关系检验的影响。研究结果表明,沉默基因的总体影响很小,但在某些情况下,其影响可能相对显著。沉默基因的影响一般会随着亲缘关系的疏远而减小。在特定的亲缘关系测试中,当个体之间没有亲缘关系时,沉默基因的影响比有亲缘关系时要小。在一级和二级亲缘关系检验中使用 LRadjust 值可以大大减轻沉默基因的影响。
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Forensic science international
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