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Expression of RIPK-1 and S-100B in traumatic brain injury- exploring a forensic cases series. 外伤性脑损伤中RIPK-1和S-100B的表达——探讨法医案例系列。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-12-16 DOI: 10.1007/s00414-024-03400-2
Gabriele Napoletano, Enrico Marinelli, Luigi Palla, Simona Zaami, Aniello Maiese

Traumatic Brain Injury (TBI) represents one of the leading causes of disability and death globally, with a significant impact on public health. We present 12 cases (age 5-80 years old) of death due to TBI with different post-traumatic interval (PTI). The expression of S-100B and RIPK-1 in pericontusional zones of TBI were studied in forensic cases to understand the vitality and timing of injuries. The anti-RIPK-1 antibodies mainly stained the cytoplasm of the nerve cells. In 3 cases (48 to 56 years old with no other comorbidities; PTI: 2 days to 4 days) antibodies positive for RIPK-1 were found. In 5 cases (48 to 71 years old; PTI: 2 days to 12 days) astrocyte, oligodendrocyte and neurons positive for anti-S-100B were found. In 3 of these 5 cases both antibodies tested were positive. In 7 cases (5-80 years old; one with history of drug abuse, other with no comorbidities, PTI 0 h; ) the glial cells were swollen and the submeningeal glial limitans became immunopositive for S100B. Stain accumulations were also observed adjacent to the walls of cerebral vessels, sometimes within the intravascular compartment. The results of the study show that in subjects who suffered a TBI, the expression of RIPK-1 and S-100B at the level of neurons in the pericontusional area was significantly increased compared to the control group. Neurons were not stained for RIPK-1 in cases of sudden cardiac deaths and sudden deaths due to TBI but observed neurons became immunopositive for RIPK-1 some days after TBI. S100-immunopositive neurons were not seen in immediate deaths but were found in cases with survival up to 12 days. Results regarding S100B are in line with existing knowledge. The study of necroptosis with anti-RIPK-1 antibodies could be useful in understanding the extent of secondary injuries and survival time in forensic contexts. However, this is a pilot study and should be extended to a larger number of cases to achieve more reliable results.

创伤性脑损伤(TBI)是全球致残和死亡的主要原因之一,对公共卫生产生重大影响。我们报告了12例(年龄5-80岁)因创伤后时间间隔(PTI)不同而死亡的TBI病例。我们在法医案例中研究了S-100B和RIPK-1在TBI损伤周区域的表达,以了解损伤的活力和时间。抗ripk -1抗体主要染色神经细胞的细胞质。3例(48 ~ 56岁)无其他合并症;PTI: 2 ~ 4天)发现RIPK-1抗体阳性。5例(48 ~ 71岁);PTI: 2 ~ 12 d)星形胶质细胞、少突胶质细胞和神经元抗s - 100b阳性。这5例中有3例抗体检测均为阳性。7例(5 ~ 80岁);1例有药物滥用史,1例无合并症,PTI 0 h;)神经胶质细胞肿胀,脑膜下神经胶质细胞呈S100B免疫阳性。在脑血管壁附近,有时在血管内也可观察到染色堆积。本研究结果显示,脑外伤患者脑膜周区神经元水平上RIPK-1和S-100B的表达明显高于对照组。在心源性猝死和脑外伤猝死的病例中,神经元没有RIPK-1染色,但观察到的神经元在脑外伤后几天呈RIPK-1免疫阳性。s100免疫阳性神经元未在立即死亡的病例中发现,但在存活12天的病例中发现。关于S100B的结果与现有知识一致。抗ripk -1抗体对坏死性上睑下垂的研究可能有助于了解法医环境下继发性损伤的程度和生存时间。然而,这是一项试点研究,应扩大到更多的病例,以取得更可靠的结果。
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引用次数: 0
Construction of the time since deposition (TsD) model in saliva stains with 16S rRNA full-length sequencing technology and microbial markers. 利用 16S rRNA 全长测序技术和微生物标记构建唾液污渍沉积时间(TsD)模型。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-12-16 DOI: 10.1007/s00414-024-03383-0
Shujie Dou, Guanju Ma, Yu Liang, Jie Shen, Guangzhong Zhao, Guangping Fu, Lihong Fu, Bin Cong, Shujin Li

Determining the time since deposition (TsD) and sex of saliva stains is crucial for revealing the time of the crime's occurrence and clarifying the nature of the crime. This process not only shortens the time required to solve the case but also helps narrow down the scope of investigation, thereby enhancing the efficiency of case resolution. Currently, the forensic study of the microbial composition in long-term saliva stains remains a relatively underexplored field. The purpose of this study was to explore the succession pattern of long-placed human saliva stains microbial communities and identify relevant microbial markers for estimating TsD and identifying the sex of the donor, in order to be an effective alternative tool for solving practical forensic cases. Therefore, in this study, saliva stains exposed to indoor environmental conditions for up to 140 days were collected and 16S rRNA full-length sequencing was performed using single-molecule real-time sequencing technology based on the PacBio sequencing platform. The study reveals that after 140 days of placement, the relative abundance of Firmicutes significantly decreased (p = 0.00304). At the genus level, the relative abundances of Streptococcus (p = 0.0008), Rothia (p = 0.0448), Gemella (p = 0.016), and Veillonella (p = 0.0208) also significantly decreased. Additionally, significant differences were found in the microbial communities between saliva stains from males and females (p = 0.00013). Then, we constructed a TsD estimating model for microbial community markers based on random forest, and the results showed that the mean absolute error was 9.59 days, and the accuracy of sex classification model based on stepwise logistic regression model and 4 bacterial markers was 84.21%. This indicates that saliva stains that have been in place for a long time still retain significant forensic value, and microbial markers can be used to determine the time since deposition (TsD) of dried saliva stains as well as to identify the sex of the donor.

确定唾液污渍的沉积时间(TsD)和性别对于揭示犯罪发生时间和澄清犯罪性质至关重要。这一过程不仅能缩短破案时间,还有助于缩小调查范围,从而提高破案效率。目前,对长期唾液污渍中微生物成分的法医研究仍是一个相对欠缺的领域。本研究的目的是探索长期放置的人类唾液污渍微生物群落的演替模式,并确定用于估算TsD和识别供体性别的相关微生物标记,以期成为解决实际法医案件的有效替代工具。因此,本研究收集了暴露在室内环境条件下长达 140 天的唾液污渍,并利用基于 PacBio 测序平台的单分子实时测序技术进行了 16S rRNA 全长测序。研究发现,放置 140 天后,真菌的相对丰度显著下降(p = 0.00304)。在属一级,链球菌(p = 0.0008)、罗伊菌(p = 0.0448)、Gemella(p = 0.016)和 Veillonella(p = 0.0208)的相对丰度也明显下降。此外,男性和女性唾液污渍中的微生物群落也存在明显差异(p = 0.00013)。然后,我们构建了一个基于随机森林的微生物群落标记的 TsD 估计模型,结果表明,平均绝对误差为 9.59 天,基于逐步逻辑回归模型和 4 个细菌标记的性别分类模型的准确率为 84.21%。这表明,存在已久的唾液污渍仍具有重要的法医价值,微生物标记物可用于确定干唾液污渍的沉积时间(TsD)以及鉴定捐献者的性别。
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引用次数: 0
12 real forensic cases solved by the DNA STR-typing of skeletal remains exposed to extreme environment conditions, without the conventional bone pulverization step. 通过对暴露在极端环境条件下的骨骼遗骸进行DNA str分型,而无需常规的骨粉碎步骤,解决了12个真实的法医案件。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-12-14 DOI: 10.1007/s00414-024-03389-8
Chiara Della Rocca, Gavino Piras, Andrea Berti, Alessandro Mameli

DNA identification of human skeletal remains play a valuable role in the forensic field, especially in missing persons and mass disasters investigation. Hard tissues, such as bones and teeth, represent a very common kind of samples analyzed in forensic laboratories because often they are the only biological materials remaining. However, the major limitation in using these compact samples rely on time consuming and labor-intensive treatment of grinding them into powder before proceeding with the conventional DNA purification and extraction step. In this context, a novel DNA extraction assay, called the TBone Ex kit (DNA Chip Research Inc.), was developed to digests bone chips without powdering "as reported by Kitayama (JAMA 12:84-89, 2010)." Here, we simultaneously analyzed bone and tooth samples obtained by our police laboratory that belonged to 15 different forensic cases from Sardinia (Italy). The total of 27 samples were recovered from different scenarios and were exposed to extreme environmental factors, including sunlight, seawater, soil, fauna, vegetation and high temperature and humidity. The TBone Ex kit was used prior to the EZ2 DNA extraction kit on the EZ2 Connect Fx instrument (Qiagen), and high quality autosomal and Y-chromosome STRs profiles were obtained for the 80% of the cases, in a relatively short time frame. This study provides additional support for the use of the TBone Ex kit for digesting bone fragments/whole teeth as an effective alternative to pulverization protocols. We empirically demonstrated the effectiveness of the kit in processing multiple bone samples simultaneously, largely simplifying the DNA extraction procedure, and the good yield of recovered DNA for downstream genetic typing in highly compromised forensic real specimens. In conclusion, the results of this study appear useful for forensic laboratories, to which the various actors of the criminal justice system - such as potential jury members, judges, defense attorneys and prosecutors - require immediate feedback.

人类遗骸DNA鉴定在法医领域,特别是在失踪人员和大规模灾害调查中发挥着重要作用。硬组织,如骨骼和牙齿,是法医实验室分析的一种非常常见的样本,因为它们通常是唯一剩下的生物材料。然而,使用这些致密样品的主要限制是在进行传统的DNA纯化和提取步骤之前,将它们磨成粉末的耗时和劳动密集型处理。在这种情况下,一种新的DNA提取试验,称为TBone Ex试剂盒(DNA芯片研究公司),被开发出来消化骨芯片而不产生粉末,“据Kitayama报道(JAMA:84-89, 2010)。”在这里,我们同时分析了警方实验室获得的属于撒丁岛(意大利)15个不同法医案件的骨骼和牙齿样本。27个样本在不同情景下被回收,暴露于极端环境因素,包括阳光、海水、土壤、动物、植被和高温高湿。在EZ2 Connect Fx仪器(Qiagen)上使用EZ2 DNA提取试剂盒之前,先使用TBone Ex试剂盒,在相对较短的时间内获得80%病例的高质量常染色体和y染色体STRs谱。这项研究为使用TBone Ex试剂盒消化骨碎片/全牙作为粉碎方案的有效替代方案提供了额外的支持。我们通过经验证明了该试剂盒在同时处理多个骨样本方面的有效性,极大地简化了DNA提取过程,并且在高度受损的法医真实标本中获得了用于下游遗传分型的高产量的DNA。总之,这项研究的结果似乎对法医实验室有用,刑事司法系统的各种行为者- -例如可能的陪审团成员、法官、辩护律师和检察官- -需要立即反馈。
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引用次数: 0
Sexual violence associated with international travel: a review of 443 cases. 与国际旅行有关的性暴力:对443起案件的审查。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-12-14 DOI: 10.1007/s00414-024-03388-9
Daniel Kane, Andrea Holmes, Kieran Kennedy, Karen Flood, Maeve Eogan

Background: Sexual violence (SV) while travelling internationally is underreported and pre-travel advice is often focussed on broader tourist safety concerns. International travellers who experience sexual violence face particular challenges. The aim of this paper was to analyse the attendances of people who disclosed having been subjected to SV during international travel to the Sexual Assault Treatment Unit (SATU) network in the Republic of Ireland.

Methods: Analysis of all people who attended the national SATU network who disclosed an incident of SV experienced during international travel, and comparison of these cases with domestic case attendances.

Results: During the 7-year period studied, there were 6,447 attendances to the national SATU network, with 443 incidents reported as occurring outside Ireland; in 66 separate countries. The mean age of international attendees was 26.61 years, with females representing 90.3% of cases. Where an incident occurred internationally, the patient was less likely to disclose drug ingestion in the 24 h preceding the incident (p < 0.001) and significantly less likely to be assaulted in the assailant's home (p = 0.009) when compared with domestic cases. Those who were assaulted internationally were significantly more likely to be assaulted by a stranger or recent acquaintance, i.e. ( p < 0.001).They were also more likely be assaulted in a location recorded as 'other indoors' (e.g. hotel, hostel etc) (p < 0.001). There was no significant difference in alcohol consumption (p = 0.115) or frequency of assaults occurring outdoors (p = 0.155).

Conclusion: Our study has shown that 7% of attendances to the SATU network followed incidents of SV that occurred during international travel. The majority of these incidents were disclosed as being perpetrated by a stranger or recent acquaintance, in an indoor setting with over half having occurred in Europe. Individuals who experience SV while travelling abroad should be encouraged to seek immediate medical attention and appropriate follow-up care upon returning home.

背景:国际旅行中的性暴力(SV)报道不足,旅行前的建议通常侧重于更广泛的游客安全问题。遭遇性暴力的国际游客面临着特殊的挑战。本文旨在分析爱尔兰共和国性攻击治疗机构(SATU)网络中披露在国际旅行期间遭受过性暴力的人的就诊情况:方法:分析全国性攻击治疗单位网络中所有披露在国际旅行期间遭遇性攻击事件的就诊者,并将这些病例与国内就诊病例进行比较:在研究的 7 年时间里,全国 SATU 网络共接待了 6447 人次,其中 443 例报告的事件发生在爱尔兰境外,涉及 66 个不同的国家。国际就诊者的平均年龄为 26.61 岁,其中女性占 90.3%。如果事件发生在国际范围内,患者不太可能透露在事件发生前 24 小时内摄入过药物(p):我们的研究表明,7% 的 SATU 网络就诊者是在国际旅行期间发生 SV 事件后就诊的。这些事件大多是由陌生人或最近认识的人在室内实施的,其中一半以上发生在欧洲。应鼓励在国外旅行期间遭遇 SV 的个人立即就医,并在回国后接受适当的后续治疗。
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引用次数: 0
Postmortem interval determination in excised porcine skin using a novel ultrasound-based elasticity measurement device. 用一种新型超声弹性测量装置测定猪切除皮肤的死后间隔。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-12-12 DOI: 10.1007/s00414-024-03382-1
Tanmoy Bhattacharjee, Russell Petherick, Paul Harris, Warwick Duncan

Postmortem interval (PMI) estimation, a parameter critical for solving criminal cases, remains a challenge. It has been suggested that elasticity of decomposing tissue may show a relationship to PMI. We measured elasticity of excised porcine skin at regular intervals for 17 days using a novel ultrasound device. Kruskal-Wallis test followed by Dunn's pair-wise comparison test was performed on the elastic modulus values from each time-point. We found statistically significant differences (p < 0.0001) between the elastic modulus values. Pair-wise comparison showed that tissue measured with a PMI of 1-4, 6-9, 10-14, and 16-17 days can be distinguished from each other based on elastic modulus values. An overall trend of increasing elastic modulus values with time was also observed. Histology and H&E staining of skin samples at PMI of 1, 5, 8, and 12 days showed increasingly prominent fibre bundles which may explain the observed trend. The results of our study suggest that estimation of PMI using an ultrasound device is promising and should be explored further.

作为刑事案件侦破的关键参数,尸检间隔(PMI)的估计仍然是一个挑战。有人认为,分解组织的弹性可能与PMI有关。我们使用一种新型的超声装置,每隔一段时间测量17天切除的猪皮肤的弹性。对各时间点的弹性模量进行Kruskal-Wallis检验和Dunn两两比较检验。我们发现有统计学意义的差异(p
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引用次数: 0
A rapid identification system for vaginal fluid stains based on nested recombinant polymerase amplification and lateral flow dipstick. 基于巢式重组聚合酶扩增和侧流试纸的阴道液污渍快速鉴定系统。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-12-11 DOI: 10.1007/s00414-024-03392-z
Bin Liang, Chudong Wang, Weifeng Qu, Ruyi Xu, Yi Liu, Hongtao Jia, Xuan Tang, Siqi Chen, Xue Li, Yue Wang, Jienan Li, Ying Liu, Dan Wen, Lagabaiyila Zha

In forensic practice, identifying the species of unknown bodily fluid stains can provide assistance in the qualitative analysis and investigation of cases, and vaginal fluid stains, as one of the common bodily fluid stains, are most commonly seen at the scene of sexual assault. At present, the commonly used vaginal peptidase or microscopic detection methods currently have drawbacks such as high false negative rates, poor sensitivity, and high requirements for sample integrity and background color. However, in forensic investigations, the test materials have specificity and scarcity, making it difficult to ensure their quantity and quality. Thus, in order to achieve rapid and sensitive detection of vaginal fluid stains, in this study, we combined nested PCR and isothermal amplification technology to construct a rapid detection system for suspicious vaginal fluid stains using lateral flow dipstick. This system achieves detection by detecting the specific marker microbial community Lactobacillus crispatus in vaginal fluid, and has a high sensitivity and accuracy, which can achieve detection at template quantities as low as 2.31 copies. More importantly, the system can achieve detection at a constant temperature of 37 °C without the need for complex instruments. It can provide rapid and sensitive identification results, providing assistance for subsequent forensic material extraction and individual identification.

在法医实践中,确定未知的体液污渍的种类可以为定性分析和案件调查提供帮助,阴道液体污渍作为常见的体液污渍之一,在性侵犯现场最常见。目前常用的阴道肽酶或显微镜检测方法存在假阴性率高、灵敏度差、对样品完整性和背景色要求高等缺点。然而,在司法调查中,检测材料具有专一性和稀缺性,难以保证其数量和质量。因此,为了实现对阴道液斑的快速、灵敏检测,本研究将巢式PCR与等温扩增技术相结合,构建了一套侧流试纸对可疑阴道液斑的快速检测系统。本系统通过检测阴道液中特异性标记微生物群落crispatus来实现检测,具有较高的灵敏度和准确性,可在低至2.31拷贝的模板量下实现检测。更重要的是,该系统可以在37℃恒温下实现检测,无需复杂的仪器。能够提供快速、灵敏的鉴定结果,为后续法医物证提取和个体鉴定提供帮助。
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引用次数: 0
Complex kinship testing using the MGIEasy Pa-SNPs genotyping kit. 使用MGIEasy pa - snp基因分型试剂盒进行复杂亲属关系检测。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-12-11 DOI: 10.1007/s00414-024-03376-z
Qingzhen Zhang, Tingting Dong, Xueqian Wang, Xiaochang Zhang, Sen Yang, Peng Cheng, Zhe Zhou, Shengqi Wang

Disaster victim identification and criminal investigations have intensified the demand of complex kinship testing. Compared to close relatives, distant relatives share fewer identical-by-descent genetic segments; therefore, more genetic markers are required to improve the system effectiveness. Driven by the progress of next-generation sequencing, several commercial or in-house panels, including a large number of genetic markers, have been developed and applied in forensic caseworks. However, few efficient panels are available for first cousins (FC) kinship testing. Here, we adopted the MGIEasy Pa-SNPs genotyping kit, a two-step multiplex PCR strategy to detect 2,009 SNPs, and evaluated their system effectiveness in complex kinship analysis. Samples from 10,000 pairs of relatives and unrelated individuals were simulated to evaluate the system power. Simultaneously, real samples were used to further confirm this, including 72 pairs of full siblings (FS), 52 pairs of uncle/aunt/-niece/nephew (UN), 92 pairs of FC, 79 pairs of first cousin once removed (1C1R), and 780 pairs of unrelated individuals. The results showed that this kit was sufficiently powerful in FS, UN, and FC versus unrelated kinship testing and could also discriminate part of 1C1R relatives against unrelated individuals. This method was also powerful in the kinship determination of FS versus UN, FS versus FC, FS versus 1C1R, and UN versus 1C1R kinship testing but had limited power to determine UN versus FC and FC versus 1C1R relationships. This study provides an effective strategy and guidance for complex kinship analysis in forensic practice.

灾害受害者鉴定和刑事侦查加剧了对复杂亲属关系检测的需求。与近亲相比,远亲拥有较少相同的遗传片段;因此,需要更多的遗传标记来提高系统的有效性。在下一代测序技术进步的推动下,包括大量遗传标记在内的一些商业或内部面板已被开发并应用于法医案件。然而,很少有效的面板可用于第一表兄弟(FC)亲属关系检测。本研究采用MGIEasy Pa-SNPs基因分型试剂盒,采用两步多重PCR策略检测了2009个snp,并评估了其系统在复杂亲缘关系分析中的有效性。从10,000对亲属和非亲属个体中模拟样本来评估系统功率。同时,使用真实样本进一步证实了这一点,包括72对完全兄弟姐妹(FS), 52对叔叔/阿姨/侄女/侄子(UN), 92对FC, 79对曾经被移除的表兄(1C1R)和780对无亲缘关系的个体。结果表明,该试剂盒在FS, UN和FC相对于无血缘关系的亲属检测中具有足够的功能,并且可以区分部分1C1R亲属与无血缘关系的个体。该方法在确定FS与UN、FS与FC、FS与1C1R、UN与1C1R亲属关系检验中也很有效,但在确定UN与FC、FC与1C1R关系方面的作用有限。本研究为司法实践中复杂亲属关系分析提供了有效的策略和指导。
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引用次数: 0
DNA quality and STR success rate in different formalin-fixed tissues. 不同福尔马林固定组织DNA质量及STR成功率。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-12-10 DOI: 10.1007/s00414-024-03391-0
Jinpei Zhang, Lu Li, Xue Bai, Zhe Zhang, Li Yuan

Formalin-fixed tissues possess irreplaceable value as a source of DNA for identification, especially when fresh samples are unavailable. Nonetheless, extracting and amplifying DNA from these tissues is challenging, primarily due to formaldehyde-induced cross-linking and nucleic acid fragmentation. In this study, two pre-extraction treatments, gradual dehydration using ethanol and pre-digestion heat treatments, and three DNA extraction methods, the Chelex-100 method, TIANamp FFPE DNA Kit, and ML Ultra-micro DNA extraction kit, were utilized to optimize DNA extraction from different tissues, which were fixed in 4% unbuffered formalin for different durations. The tissues include the heart, liver, spleen, lung, kidney, muscle, and brain. DNA quality was assessed, and quantification was conducted using Spectrophotometer and Quantifiler® Trio DNA Quantification Kits, while the GSTAR™ 25 kit was employed for STR detection. The results indicated that the two pre-extraction treatments exhibited no significant effect on the STR success rate. On day 9, allelic dropout was observed in the heart, liver, spleen, lung, and kidney tissues. Furthermore, allelic dropout was observed in muscle and brain at 12 days and 15 days, respectively. In conclusion, the results underscore the feasibility of effectively extracting DNA from formalin-fixed tissues within 9 days for subsequent STR analysis.

福尔马林固定组织作为鉴定DNA的来源具有不可替代的价值,特别是在没有新鲜样本的情况下。然而,从这些组织中提取和扩增DNA是具有挑战性的,主要是由于甲醛诱导的交联和核酸断裂。本研究采用乙醇逐步脱水和预消化热处理两种预提取方法,以及Chelex-100法、TIANamp FFPE DNA试剂盒和ML Ultra-micro DNA提取试剂盒三种DNA提取方法,对不同组织的DNA提取进行优化,将不同组织固定在4%无缓冲福尔马林中,固定时间不同。这些组织包括心脏、肝脏、脾脏、肺、肾脏、肌肉和大脑。评估DNA质量,使用分光光度计和Quantifiler®Trio DNA定量试剂盒进行定量,同时使用GSTAR™25试剂盒进行STR检测。结果表明,两种预拔处理对STR成功率无显著影响。第9天,心、肝、脾、肺、肾组织均出现等位基因缺失。在第12天和第15天,肌肉和大脑分别出现等位基因缺失。综上所述,该结果强调了在9天内从福尔马林固定组织中有效提取DNA用于后续STR分析的可行性。
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引用次数: 0
Longitudinal assessment of DNA recovery from post-mortem whole blood stored in EDTA, sodium fluoride/potassium oxalate and additive-free tubes. EDTA、氟化钠/草酸钾和无添加剂管中保存的死后全血DNA恢复的纵向评估。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-12-10 DOI: 10.1007/s00414-024-03384-z
Jana Grobbelaar, Loyiso Abongile Marvin Vuko, Bronwen Davies, Brendon Pearce, Fungisai Lorraine Musiyandaka, Laura Jane Heathfield

Adverse drug reactions and fatalities can result from therapeutic drug use due to genetic deficiencies in drug-metabolizing enzymes. In cases where ancillary testing may not reveal a clear cause of death, molecular autopsies can be valuable. However, forensic mortuaries do not retain DNA samples in all cases, which hinders subsequent genetic testing if it is later deemed necessary. This study aimed to evaluate whether post-mortem whole blood samples collected for toxicological analysis, could provide viable DNA for genetic testing after varying storage periods. Thirty deceased individuals were recruited with informed consent. Blood collected at autopsy from each individual was stored in two sodium fluoride/potassium oxalate (gray-top) tubes, two additive-free (red-top) tubes and one ethylenediaminetetraacetic acid (EDTA; purple-top) tube- the latter recommended for DNA analysis. Blood from one gray-top and one red-top tube were sampled for toxicological analysis prior to DNA analysis, while the remaining samples (acting as controls) underwent DNA analysis immediately. DNA analysis involved DNA extraction and DNA concentration and degradation assessment. Blood samples were stored at 4 °C and DNA extraction and analysis was repeated one year and then five years later. Toxicological sampling did not significantly influence DNA results. DNA concentration and quality significantly decreased over time for all sample types, with DNA from red-top tubes showing the greatest decline. The study showed that DNA testing for drug-metabolizing enzymes was feasible on whole blood that had been stored for five years. This finding supports the potential for retrospective genetic testing in cases of adverse drug reactions and fatalities.

由于药物代谢酶的遗传缺陷,治疗性药物使用可能导致药物不良反应和死亡。在辅助检测可能无法揭示明确死因的情况下,分子尸检可能很有价值。然而,法医停尸房并不是在所有案件中都保留DNA样本,这妨碍了后来认为有必要进行的基因检测。本研究旨在评估尸体全血样本在不同的储存时间后,是否可以为基因检测提供可行的DNA。在知情同意的情况下,招募了30名死者。尸体解剖时从每个人身上采集的血液储存在两个氟化钠/草酸钾(灰顶)管,两个无添加剂(红顶)管和一个乙二胺四乙酸(EDTA;紫顶)管-后者推荐用于DNA分析。在DNA分析之前,从一根灰顶管和一根红顶管中抽取血液进行毒理学分析,而其余样本(作为对照)立即进行DNA分析。DNA分析包括DNA提取、DNA浓度和降解评估。血样保存在4℃,一年后和五年后重复提取和分析DNA。毒理学取样对DNA结果没有显著影响。随着时间的推移,所有样品类型的DNA浓度和质量都显著下降,其中红顶管的DNA下降幅度最大。该研究表明,对储存五年的全血进行药物代谢酶的DNA检测是可行的。这一发现支持了在药物不良反应和死亡病例中进行回顾性基因检测的潜力。
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引用次数: 0
Fatal fall from a height: is it possible to apply artificial intelligence techniques for height estimation? 从高处坠落致死:是否有可能应用人工智能技术进行高度估计?
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-12-07 DOI: 10.1007/s00414-024-03371-4
Alberto Blandino, Anna Maria Zanaboni, Dario Malchiodi, Carlotta Virginia Di Francesco, Claudio Spada, Chiara Faraone, Guido Vittorio Travaini, Michelangelo Bruno Casali

Fall from a height trauma is characterized by a multiplicity of injuries, related to multiple factors. The height of the fall is the factor that most influences the kinetic energy of the body and appears to be one of the factors that most affects the extent of injury. The purpose of this work is to evaluate, through machine learning algorithms, whether the autopsy injury pattern can be useful in estimating fall height. 455 victims of falls from a height which underwent a complete autopsy were retrospectively analyzed. The cases were enlisted by dividing them into 7 groups according to the height of the fall: 6 or less meters; 9 m, 12 m, 15 m, 18 m, 21 m, 24 m or more. Autoptic data were registered through the use of a previously published visceral and skeletal table. A total of 25 descriptors were used. Reduction of values in the range, standard and robust scaling were used as preprocessing methods. Principal Component Analysis, Single Value Decomposition and Independent Component Analysis were applied for dimensionality reduction. Cross validation was performed with 5 internal and external folds to ensure the validity of the results. The learning algorithms that generated the best models were Linear Regression, Support Vector Regressor, Kernel Ridge, Decision trees and Random forests. The best mean absolute error was 4.58 ± 1.28 m when dimensionality reduction was applied. Without any dimensionality reduction, the best result was 4.37 ± 1.27 m, suggesting a good performance of the proposed algorithms, with better performance when dimensionality is not automatically reduced.

高空坠落创伤的特点是多重伤害,与多种因素有关。落体高度是影响身体动能最大的因素,也是影响损伤程度最大的因素之一。这项工作的目的是通过机器学习算法来评估尸检损伤模式是否有助于估计坠落高度。455名从高处坠落的受害者进行了完整的尸检,并对其进行了回顾性分析。按坠落高度分为7组:6米以下;9米、12米、15米、18米、21米、24米以上。通过使用先前发表的内脏和骨骼表来记录自动数据。总共使用了25个描述符。预处理方法采用范围值缩减、标准缩放和鲁棒缩放。采用主成分分析、单值分解和独立成分分析进行降维。采用5个内外折叠进行交叉验证,以确保结果的有效性。产生最佳模型的学习算法是线性回归、支持向量回归、核脊、决策树和随机森林。降维后的最佳平均绝对误差为4.58±1.28 m。在不进行降维的情况下,最佳结果为4.37±1.27 m,表明所提算法性能较好,不进行自动降维时性能更好。
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International Journal of Legal Medicine
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