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Forensic bone age assessment of hand and wrist joint MRI images in Chinese han male adolescents based on deep convolutional neural networks. 基于深度卷积神经网络的中国汉族男性青少年手部和腕关节 MRI 图像的法医骨龄评估
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-07-26 DOI: 10.1007/s00414-024-03282-4
Hui-Ming Zhou, Zhi-Lu Zhou, Yu-Heng He, Tai-Ang Liu, Lei Wan, Ya-Hui Wang

In Chinese criminal law, the ages of 12, 14, 16, and 18 years old play a significant role in the determination of criminal responsibility. In this study, we developed an epiphyseal grading system based on magnetic resonance image (MRI) of the hand and wrist for the Chinese Han population and explored the feasibility of employing deep learning techniques for bone age assessment based on MRI of the hand and wrist. This study selected 282 Chinese Han Chinese males aged 6.0-21.0 years old. In the course of our study, we proposed a novel deep learning model for extracting and enhancing MRI hand and wrist bone features to enhance the prediction of target MRI hand and wrist bone age and achieve precise classification of the target MRI and regression of bone age. The evaluation metric for the classification model including precision, specificity, sensitivity, and accuracy, while the evaluation metrics chosen for the regression model are MAE. The epiphyseal grading was used as a supervised method, which effectively solved the problem of unbalanced sample distribution, and the two experts showed strong consistency in the epiphyseal plate grading process. In the classification results, the accuracy in distinguishing between adults and minors was 91.1%, and the lowest accuracy in the three minor classifications (12, 14, and 16 years of age) was 94.6%, 91.1% and 96.4%, respectively. The MAE of the regression results was 1.24 years. In conclusion, the deep learning model proposed enabled the age assessment of hand and wrist bones based on MRI.

在中国刑法中,12 岁、14 岁、16 岁和 18 岁对刑事责任的认定起着重要作用。在本研究中,我们为中国汉族人群开发了基于手部和腕部磁共振成像(MRI)的骺板分级系统,并探索了基于手部和腕部磁共振成像的骨龄评估采用深度学习技术的可行性。本研究选取了 282 名年龄在 6.0-21.0 岁之间的中国汉族男性作为研究对象。在研究过程中,我们提出了一种新颖的深度学习模型,用于提取和增强核磁共振手部和腕部骨骼特征,以增强对目标核磁共振手部和腕部骨龄的预测,实现目标核磁共振的精确分类和骨龄回归。分类模型的评价指标包括精确度、特异度、灵敏度和准确度,回归模型的评价指标则选择 MAE。骺板分级采用监督方法,有效解决了样本分布不均衡的问题,两位专家在骺板分级过程中表现出较强的一致性。在分类结果中,区分成年人和未成年人的准确率为 91.1%,在三个未成年人分类(12 岁、14 岁和 16 岁)中准确率最低,分别为 94.6%、91.1% 和 96.4%。回归结果的 MAE 为 1.24 岁。总之,所提出的深度学习模型能够根据核磁共振成像对手部和腕部骨骼进行年龄评估。
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引用次数: 0
Correction to: Metabolomics efficiently discriminates monozygotic twins in peripheral blood. 更正:代谢组学能有效区分外周血中的单卵双胞胎。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-07-20 DOI: 10.1007/s00414-024-03288-y
Kuo Zeng, Jiang Du, Yun-Zhou Chen, Dan-Yang Wang, Mao-Ling Sun, Yu-Zhang Li, Dong-Yi Wang, Shu-Han Liu, Xiu-Mei Zhu, Peng Lv, Zhe Du, Kun Liu, Jun Yao
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引用次数: 0
Correction to: Expression of matrix metalloproteinase-9 (MMP-9) in human skin within 1 hour after injury through immunohistochemical staining: a pilot study. 更正:通过免疫组化染色观察损伤后 1 小时内人体皮肤中基质金属蛋白酶-9 (MMP-9) 的表达:一项试验性研究。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-07-18 DOI: 10.1007/s00414-024-03294-0
Rossana Cecchi, Tomoya Ikeda, Jessika Camatti, Mizuho Nosaka, Yuko Ishida, Toshikazu Kondo
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引用次数: 0
Looking at the future of the medical certification of cause of death (MCCD) in England and Wales. 展望英格兰和威尔士死因医学证明 (MCCD) 的未来。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-07-17 DOI: 10.1007/s00414-024-03292-2
Pablo Millares Martin, Matthew J Allsop, Paul Carder

Internationally, the quality of death certification is poor although there are multiple efforts underway to improve the process. In England, a new medical certification system has been proposed to improve the quality of data. We surveyed general practitioners (n = 95) across the West Yorkshire area of England to appraise their views regarding whether further possible changes to the death certification system could promote their quality.

在国际上,死亡证明的质量很差,尽管有多方正在努力改进这一过程。在英格兰,已经提出了一个新的医疗认证系统来提高数据质量。我们对英格兰西约克郡地区的全科医生(95 人)进行了调查,以评估他们对进一步修改死亡证明系统是否能提高其质量的看法。
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引用次数: 0
Diagnostic accuracy of post-mortem computed tomography for fractures of the hyoid-larynx complex. 死后计算机断层扫描对舌骨-喉复合体骨折的诊断准确性。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-07-17 DOI: 10.1007/s00414-024-03293-1
Josephine Ploug Hansen, Sara Tangmose Larsen, Christina Jacobsen

Post-mortem computed tomography (PMCT) is routinely used at many forensic institutions to guide the following autopsy and is especially useful for diagnosing fractures. This systematic review aims to investigate the sensitivity and specificity of a PMCT scan in fracture diagnosis of the hyoid-larynx complex (HLC) compared to traditional autopsy in cases involving traumatic neck injuries. We searched PubMed, SCOPUS and Web of Science and included papers with cases n ≥ 3 published between January 2000 and April 2023 reporting on PMCT and autopsy findings of fractures of the HLC. The search provided 259 results of which 10 were included. Overall sensitivity and specificity were 0.70 [0.59; 0.79] and 0.92 [0.80; 0.97] for hyoid bone fractures and 0.80 [0.62; 0.91] and 0.76 [0.63; 0.85] for the thyroid cartilage. The results show great variation, and a large range between studies. These results indicate that PMCT cannot replace autopsy in cases with HLC fractures. Future larger prospective studies are needed, examining fracture details, scan protocols and different slice thicknesses using uniform reporting.

死后计算机断层扫描(PMCT)是许多法医机构用于指导尸检的常规方法,尤其适用于诊断骨折。本系统综述旨在研究在涉及颈部外伤的病例中,与传统尸检相比,PMCT 扫描对舌骨-喉复合体(HLC)骨折诊断的敏感性和特异性。我们检索了PubMed、SCOPUS和Web of Science,纳入了2000年1月至2023年4月期间发表的病例数n≥3的论文,这些论文报道了PMCT和尸检对HLC骨折的发现。搜索结果共 259 条,其中 10 条被纳入。舌骨骨折的总体敏感性和特异性分别为 0.70 [0.59; 0.79] 和 0.92 [0.80; 0.97],甲状软骨骨折的总体敏感性和特异性分别为 0.80 [0.62; 0.91] 和 0.76 [0.63; 0.85]。这些结果表明,不同研究之间的差异很大,范围也很大。这些结果表明,在HLC骨折病例中,PMCT不能取代尸检。今后需要进行更大规模的前瞻性研究,使用统一的报告方法检查骨折细节、扫描方案和不同的切片厚度。
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引用次数: 0
Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments. 审查遗传性结缔组织疾病:和谐的医学法律评估建议。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-07-15 DOI: 10.1007/s00414-024-03290-4
Nicola Galante, Maria Francesca Bedeschi, Benedetta Beltrami, Paolo Bailo, Laura Alicia Silva Palomino, Andrea Piccinini

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.

遗传性结缔组织病(HCTDs)是一组异质性遗传疾病。这些疾病表现为基因突变导致结缔组织的主要成分(如胶原蛋白和弹性纤维)功能丧失。涉及遗传性结缔组织疾病的病症有 200 多种,其中最著名的是马凡综合征、成骨不全症和埃勒斯-丹洛斯综合征。这些疾病需要不断更新、多学科技能和特定的方法评估,并涉及许多医疗法律问题。马凡综合征和埃勒斯-丹洛斯综合征显示出较高的早期猝死风险。因此,死后基因检测可以发现新的基因型与表型之间的相关性,从而帮助临床医生评估患病者的个性化心血管筛查方案。基因检测对于识别患有成骨不全症的儿童也很重要,尤其是在临床上怀疑存在身体虐待的情况下。然而,这是一个众所周知的临床问题,尽管由于目前新的基因/基因组学技术的广泛应用,在解读基因数据和意义不明的变异方面仍存在挑战。此外,基因组检测的重要应用和复杂性也给临床医生、遗传学家和法医从业者带来了新的责任,增加了潜在的责任和医疗事故索赔。本系统综述详细概述了临床医生、法医顾问、放射科医生和遗传学家等多学科技能人员如何合作管理从尸检或临床发现到基因检测的 HCTD。因此,由于目前还没有专门讨论这些问题的共识性著作或指南,因此需要向医学法律界提出技术方面的问题。
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引用次数: 0
Statistical methods for discrimination of STR genotypes using high resolution melt curve data. 利用高分辨率熔融曲线数据区分 STR 基因型的统计方法。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-07-13 DOI: 10.1007/s00414-024-03289-x
Darianne C Cloudy, Edward L Boone, Kristi Kuehnert, Chastyn Smith, Jordan O Cox, Sarah J Seashols-Williams, Tracey Dawson Green

Despite the improvements in forensic DNA quantification methods that allow for the early detection of low template/challenged DNA samples, complicating stochastic effects are not revealed until the final stage of the DNA analysis workflow. An assay that would provide genotyping information at the earlier stage of quantification would allow examiners to make critical adjustments prior to STR amplification allowing for potentially exclusionary information to be immediately reported. Specifically, qPCR instruments often have dissociation curve and/or high-resolution melt curve (HRM) capabilities; this, coupled with statistical prediction analysis, could provide additional information regarding STR genotypes present. Thus, this study aimed to evaluate Qiagen's principal component analysis (PCA)-based ScreenClust® HRM® software and a linear discriminant analysis (LDA)-based technique for their abilities to accurately predict genotypes and similar groups of genotypes from HRM data. Melt curves from single source samples were generated from STR D5S818 and D18S51 amplicons using a Rotor-Gene® Q qPCR instrument and EvaGreen® intercalating dye. When used to predict D5S818 genotypes for unknown samples, LDA analysis outperformed the PCA-based method whether predictions were for individual genotypes (58.92% accuracy) or for geno-groups (81.00% accuracy). However, when a locus with increased heterogeneity was tested (D18S51), PCA-based prediction accuracy rates improved to rates similar to those obtained using LDA (45.10% and 63.46%, respectively). This study provides foundational data documenting the performance of prediction modeling for STR genotyping based on qPCR-HRM data. In order to expand the forensic applicability of this HRM assay, the method could be tested with a more commonly utilized qPCR platform.

尽管法医 DNA 定量方法有所改进,可以及早发现低模板/受挑战的 DNA 样本,但复杂的随机效应直到 DNA 分析工作流程的最后阶段才会显现出来。在量化的早期阶段就能提供基因分型信息的检测方法可以让检验人员在 STR 扩增之前做出关键调整,从而立即报告可能的排除信息。具体来说,qPCR 仪器通常具有解离曲线和/或高分辨率熔融曲线 (HRM) 功能;这与统计预测分析相结合,可提供有关 STR 基因型的更多信息。因此,本研究旨在评估 Qiagen 基于主成分分析 (PCA) 的 ScreenClust® HRM® 软件和基于线性判别分析 (LDA) 的技术从 HRM 数据中准确预测基因型和类似基因型组的能力。使用 Rotor-Gene® Q qPCR 仪器和 EvaGreen® 插层染料从 STR D5S818 和 D18S51 扩增子生成单源样本的熔解曲线。在预测未知样本的 D5S818 基因型时,无论是预测单个基因型(准确率为 58.92%)还是预测基因组(准确率为 81.00%),LDA 分析都优于基于 PCA 的方法。然而,当测试异质性增加的基因位点(D18S51)时,基于 PCA 的预测准确率提高到了与使用 LDA 相似的水平(分别为 45.10% 和 63.46%)。本研究提供的基础数据证明了基于 qPCR-HRM 数据的 STR 基因分型预测模型的性能。为了扩大这种 HRM 检测法的法医适用性,可以使用更常用的 qPCR 平台对该方法进行测试。
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引用次数: 0
Advancements in differentiation between sperm cells and epithelial cells for efficient forensic DNA analysis in sexual assault cases. 在精子细胞和上皮细胞之间进行分化,以便对性侵犯案件进行有效的法医 DNA 分析方面取得进展。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-07-12 DOI: 10.1007/s00414-024-03285-1
Hirak Ranjan Dash

Most of the sexual assault casework samples are of mixed sources. Forensic DNA laboratories are always in the requirement of a precise technique for the efficient separation of sperm and non-sperm DNA from mixed samples. Since the introduction of the differential extraction technique in 1985, it has seen significant advancements in the form of either chemicals used or modification of incubation times. Several automated and semi-automated techniques have also adopted the fundamentals of conventional differential extraction techniques. However, lengthy incubation, several manual steps, and carryover over non-sperm material in sperm fraction are some of the major limitations of this technique. Advanced cell separation techniques have shown huge promise in separating sperm cells from a mixture based on their size, shape, composition, and membrane structure and antigens present on sperm membranes. Such advanced techniques such as DEParray, ADE, FACS, LCM, HOT and their respective pros and cons have been discussed in this article. As current-day forensic techniques should be as per the line of Olympic slogan i.e., faster, higher, stronger, the advanced cell separation techniques show a huge potential to be implemented in the casework samples.

大多数性侵犯案件的样本都是混合来源的。法医 DNA 实验室一直需要一种精确的技术来有效分离混合样本中的精子和非精子 DNA。自 1985 年引入差分提取技术以来,该技术在化学品的使用或培养时间的改变方面都取得了重大进展。一些自动化和半自动化技术也采用了传统差分提取技术的基本原理。然而,长时间的培养、多个人工步骤以及精子馏分中非精子物质的残留是这种技术的一些主要局限。先进的细胞分离技术在根据精子细胞的大小、形状、组成、膜结构和精子膜上的抗原从混合物中分离精子细胞方面显示出巨大的前景。本文讨论了 DEParray、ADE、FACS、LCM、HOT 等先进技术及其各自的优缺点。由于当今的法医学技术应符合奥林匹克的口号,即更快、更高、更强,先进的细胞分离技术在案件样本中显示出巨大的应用潜力。
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引用次数: 0
Accuracy of second and third molar maturity indices, Olze, Haavikko, and Demirjian methods for 14- and 16-year-old age thresholds assessment in Croatian children and adolescents. 第二和第三磨牙成熟度指数、Olze、Haavikko 和 Demirjian 方法对克罗地亚儿童和青少年 14 岁和 16 岁年龄阈值评估的准确性。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-07-11 DOI: 10.1007/s00414-024-03278-0
Lei Shi, Ivan Galić, Sandra Anić-Milošević, Luka Banjšak, Hrvoje Brkić

This study explores the reliability of four established legal age threshold estimation approaches in a Croatian sample. We applied Haavikko stages, Demirjian stages, Olze's third molar eruption stages, and second and third molar maturity indices measurement in 593 orthopantomograms of Croatian children and adolescents aged 11.00-20.99 years old. The left mandibular second and third molar were assessed. Logistic regression analysis was conducted to test the significance of predictive variables. Logistic Receiver operating characteristic (ROC) curves were performed to evaluate the classification ability of variables for estimating 14- and 16-year-old thresholds. The areas under the ROC curve (AUC), accuracy (Acc), sensitivity (Se), specificity (Sp), Positive Likelihood Ratio (LR +), Negative Likelihood Ratio (LR-), and Bayes post-test probability (Bayes PTP) were calculated to evaluate classification performance. Results suggest that the combination of I2M&I3M is the best classifier for the 14-year-old threshold (AUC = 0.879); for males alone, I2M is an even better classifier (AUC = 0.881). The highest Acc 80.1% (95%CI, 75.9%-83.9%), Bayes PTP 86.5% (95%CI, 82.8%-89.7%) and Sp 88.9% (95%CI, 83.0%-93.3%) were by I3M < 0.81 & I2M < 0.03 in total samples; the highest Acc 86.1% (80.6%- 90.6%), Bayes PTP 87.2% (95%CI, 81.7%- 91.4%) and Sp 87.8% (95%CI, 78.2%- 94.3%) were by I2M < 0.01 in males, Acc of Haavikko Ac and Demirjian H stage in second molar is very close with slightly lower Bayes PTP and Sp. I3M is a good classifier for 16-year-old threshold (AUC = 0.889). The cut-off value I3M < 0.34 can be used to classify the 16-year-old threshold with Acc of 80.6% (95%CI, 77.2%-83.7%), Sp of 83.4% (95%CI, 79.0%-87.3%), and 81.7% (95%CI, 78.4%-84.8%) Bayes PTP. In conclusion, to classify the 14-year-old threshold, a pair of cut-off values I3M < 0.81 & I2M < 0.03 can be used in Croatian females; I2M < 0.01, Demirjian H stage, Haavikko Ac stage in second molar, and the pair I3M < 0.81 & I2M < 0.03 can all be used in Croatian males. I3M < 0.34 can classify the 16-year-old threshold in Croatian populations.

本研究在克罗地亚样本中探讨了四种既定法定年龄阈值估计方法的可靠性。我们在 593 个克罗地亚 11.00-20.99 岁儿童和青少年的正侧位照片中应用了 Haavikko 阶段、Demirjian 阶段、Olze 第三磨牙萌出阶段以及第二和第三磨牙成熟度指数测量法。对左下颌第二和第三磨牙进行了评估。进行了逻辑回归分析,以检验预测变量的显著性。为评估变量对 14 岁和 16 岁阈值的分类能力,还绘制了逻辑受体工作特征曲线(ROC)。计算了 ROC 曲线下面积(AUC)、准确性(Acc)、灵敏度(Se)、特异性(Sp)、正似然比(LR +)、负似然比(LR-)和贝叶斯检测后概率(Bayes PTP),以评估分类性能。结果表明,对于 14 岁的阈值,I2M 和 I3M 的组合是最好的分类器(AUC = 0.879);对于男性单独使用,I2M 是更好的分类器(AUC = 0.881)。对于 16 岁临界值,I3M 2M 2M 3M 是一个很好的分类器(AUC = 0.889),Acc 80.1%(95%CI,75.9%-83.9%)、Bayes PTP 86.5%(95%CI,82.8%-89.7%)和 Sp 88.9%(95%CI,83.0%-93.3%)是最高的。临界值 I3M 3M 2M 2M 3M 2M 3M
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引用次数: 0
Forensic species identification: practical guide for animal and plant DNA analysis. 法医物种鉴定:动植物 DNA 分析实用指南》。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-07-10 DOI: 10.1007/s00414-024-03284-2
Beatrice Corradini, Denise Gianfreda, Gianmarco Ferri, Francesca Ferrari, Ilaria Borciani, Anna Laura Santunione, Rossana Cecchi

The importance of non-human DNA in the forensic field has increased greatly in recent years, together with the type of applications. The molecular species identification of animal and botanical material may be crucial both for wildlife trafficking and crime scene investigation. However, especially for forensic botany, several challenges slow down the implementation of the discipline in the routine.Although the importance of molecular analysis of animal origin samples is widely recognized and the same value is acknowledged to the botanical counterpart, the latter does not find the same degree of application.The availability of molecular methods, especially useful in cases where the material is fragmented, scarce or spoiled preventing the morphological identification, is not well known. This work is intended to reaffirm the relevance of non-human forensic genetics (NHFG), highlighting differences, benefits and pitfalls of the current most common molecular analysis workflow for animal and botanical samples, giving a practical guide. A flowchart describing the analysis paths, divided in three major working areas (inspection and sampling, molecular analysis, data processing and interpretation), is provided. More real casework examples of the utility of non-human evidence in forensic investigations should be shared by the scientific community, especially for plants. Moreover, concrete efforts to encourage initiatives in order to promote quality and standardization in the NHFG field are also needed.

近年来,非人类 DNA 在法医领域的重要性大大增加,应用类型也随之增多。动物和植物材料的分子物种鉴定对于野生动物贩运和犯罪现场调查都至关重要。尽管对动物源样本进行分子分析的重要性已得到广泛认可,植物源样本的分子分析也具有同样的价值,但植物源样本的分子分析却没有得到同等程度的应用。这项工作旨在重申非人类法医遗传学(NHFG)的相关性,强调当前最常见的动物和植物样本分子分析工作流程的差异、益处和缺陷,并提供实用指南。流程图描述了分析路径,分为三个主要工作领域(检查和取样、分子分析、数据处理和解释)。科学界应分享更多关于非人类证据在法医调查中的实用性的实际案例,特别是植物证据。此外,还需要做出具体努力,鼓励采取主动行动,以促进非人类证据领域的质量和标准化。
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引用次数: 0
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International Journal of Legal Medicine
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