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Identification success rates in the post-Spanish Civil War mass graves located in the cemetery of Paterna, Spain: Meta-research on 15 mass graves with 933 subjects 西班牙帕特纳公墓中西班牙内战后乱葬坑的识别成功率:对 15 座万人坑、933 名受试者进行的元研究。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-06-25 DOI: 10.1016/j.forsciint.2024.112122
Juan A. Sanchis-Gimeno , Javier Iglesias-Bexiga , Marisol E. Schwab , Gema López-García , Eloy Ariza , Alejando Calpe , Miguel Mezquida , Shahed Nalla , Ilker Ercan

Spain suffered a Civil War between 1936 and 1939 that ended with the victory of the National Forces led by General Franco. Once the Spanish Civil War ended, 2238 subjects were executed and buried in several mass graves in the Cemetery of Paterna, one of Spain's largest mass grave sites. Efforts to locate and identify all the victims of the mass graves of the Paterna cemetery are ongoing, but the actual data of the percentage of DNA identifications remains uncertain. Following this, we conducted a meta-research study including 15 mass graves and 933 subjects to determine the DNA identification rates in the mass graves of the Paterna cemetery. We found that the total proportion of identified subjects in the mass graves was 15.9 % (95 % CI: 10.0–22.9). Moreover, we found that the model between the identification success rate (ISR) and the number of relatives that donated DNA (NRTDD) in the mass graves of the cemetery of Paterna was ISR = NRTDD−0.424. Results obtained about the proportion of identified subjects and the model between the ISR and the NRTDD imply the need for a scientific reflection between all the research groups involved in the identification tasks to modify deficiencies and update identification protocols to obtain better future results.

西班牙在 1936 年至 1939 年期间经历了一场内战,最终以佛朗哥将军领导的国民军的胜利而告终。西班牙内战一结束,就有 2238 人被处决,并被埋葬在西班牙最大的万人坑之一--帕泰纳公墓的几个万人坑里。目前正在努力寻找和鉴定帕泰纳公墓万人坑中的所有受害者,但 DNA 鉴定比例的实际数据仍不确定。因此,我们进行了一项元研究,包括 15 座乱葬坑和 933 名受试者,以确定帕特纳公墓乱葬坑的 DNA 鉴定率。我们发现,乱葬坑中被鉴定者的总比例为 15.9 %(95 % CI:10.0-22.9)。此外,我们还发现,在帕特纳公墓的乱葬坑中,鉴定成功率(ISR)与捐赠 DNA 的亲属数量(NRTDD)之间的模型为 ISR = NRTDD-0.424。关于已识别对象的比例以及ISR与NRTDD之间的模型的研究结果表明,所有参与识别任务的研究小组都需要进行科学反思,以修改不足之处并更新识别协议,从而在未来取得更好的结果。
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引用次数: 0
Drugs, crime, and racial disparities in the homeless population gathered from a sample of police reports: Evidence from Brazil 从警方报告样本中收集的无家可归者中的毒品、犯罪和种族差异:巴西的证据。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-06-25 DOI: 10.1016/j.forsciint.2024.112123
Alan Bazalha Lopes, Manoel Jorge Nobre

Brazil is one of the most unequal democracies in the world. Although the number of homeless individuals in our country has increased due to the reproduction of people living in extreme poverty, little has been discussed about their welfare and rights. In the present study, we provide analysis with a theoretical-methodological approach directed at homeless people living in the wealthy neoliberal middle-sized southeast city of São Paulo, Brazil’s richest state. Data was acquired from police reports with prior permission from the Civil Police of São Paulo and the São Paulo Interior Judiciary Police Department. Our results illustrate that the homelessness phenomenon in Franca appears to be comparable to that of other large urban cities, where Blacks, a minority of the population, make up the bulk of homeless individuals. It also denies that homeless activity increases criminality, emphasizes the difference between Blacks and Whites drug users’ criminal behavior, with Whites being more active in theft and robbery and Blacks in trafficking, and extends the idea that drug use by homeless people is stress-related and hence an indicator of a health condition.

巴西是世界上最不平等的民主国家之一。尽管由于赤贫人口的再现,我国无家可归者的数量有所增加,但有关他们的福利和权利的讨论却很少。在本研究中,我们针对生活在巴西最富裕的州--圣保罗东南部富裕的新自由主义中等城市的无家可归者,从理论和方法论的角度进行了分析。数据来源于警方报告,事先获得了圣保罗民事警察局和圣保罗内政司法警察局的许可。我们的研究结果表明,弗兰卡的无家可归现象似乎与其他大城市的无家可归现象类似,在这些城市中,占人口少数的黑人占无家可归者的大多数。研究还否认了无家可归者的活动会增加犯罪率的说法,强调了黑人和白人吸毒者在犯罪行为上的差异,白人在盗窃和抢劫方面更为活跃,而黑人则在贩卖毒品方面更为活跃,并扩展了无家可归者吸毒与压力有关,因此是健康状况指标的观点。
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引用次数: 0
Kafka’s beautiful eyes: Forensic intelligence utilisation of phenotypic information 卡夫卡美丽的眼睛表型信息的法医情报利用
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-06-24 DOI: 10.1016/j.forsciint.2024.112120
Michael Taylor, Carol Mayne, Leigh Coutts, Ashlea Kinnane, Isabelle Avent, Kaymann Cho, Mark Tahtouh, Paul Roffey

Franz Kafka had beautiful eyes. So striking, that many of the famous author’s friends and peers commented on them – but quite variously (‘dark’, ‘brown’, ‘grey’ & ‘blue’). Eye colour as perceived by an observer is subjective, being influenced by physiological, environmental, and even sociocultural factors. In a policing context, this does not mean that trait information such as eye colour is not valuable (far from it), but that it must be managed carefully. The Australian Federal Police has recently implemented a forensic DNA phenotyping (FDP, aka. physical trait prediction or PTP) capability, utilising massively parallel sequencing DNA technology to predict an individual’s eye colour, biogeographical ancestry and sex from a crime scene sample. This information alone is not itself ‘intelligence’, but can be used to generate intelligence through holistic analyses undertaken within a transdisciplinary, all-source forensic intelligence (FORINT) framework. FORINT outputs posit abductive propositions typically at the activity/offence level, to provide insight and influence decision making. However, the use of predicted traits requires that they are compared to something; all Australian police databases include fields for physical traits, but no uniform standard is applied across all agencies. Moreover, collection is inconsistent and no automated systems are in place to capture such data systematically. Consider the ‘Kafka problem’: his peers gave multiply divergent descriptions of his eyes. If a Biology unit had predicted the eye colour of an ‘unidentified author’ using DNA – how would Kafka be confidently nominated as the contributor? We posit three maxims for law enforcement: (1) To expand the operational utility of forensic science in line with police demands, forensic science should operationalise FDP (e.g. operationally to rank a list of persons of interest, focus lines of enquiry in serious & organised crime, or assist with human remains identification). (2) Such advanced biological techniques are best delivered through an all-source FORINT framework, to maximise opportunities and minimise risk. (3) One cannot pursue techno-scientific advancements in isolation; it is also necessary to influence the operational posture for their implementation. In this paper we explore these issues and provide recommendations relating to (a) police practices, (b) image capture systems, and (c) research opportunities. Phenotypic trait prediction has great potential and can be operationalised effectively through a rigorous FORINT framework. However, there is (continual) work to be done to enhance the operational capabilities that are complementary to – but necessary for – effective forensic science contribution to investigations.

弗朗茨-卡夫卡有一双美丽的眼睛。卡夫卡的眼睛如此迷人,以至于这位著名作家的许多朋友和同行都对他的眼睛做出了不同的评价("深色"、"棕色"、"灰色 "和 "蓝色")。观察者眼中的眼睛颜色是主观的,受到生理、环境甚至社会文化因素的影响。在警务工作中,这并不意味着眼睛颜色等特征信息没有价值(远非如此),而是必须谨慎管理。澳大利亚联邦警察局最近启用了法医 DNA 表型分析(FDP,又称物理特征预测或 PTP)功能,利用大规模并行 DNA 测序技术,从犯罪现场样本中预测一个人的眼睛颜色、生物地理祖先和性别。这些信息本身并不是 "情报",但可以通过在跨学科、全来源法证情报(FORINT)框架内进行的整体分析生成情报。法证情报的产出通常在活动/犯罪层面提出归纳性命题,以提供洞察力并影响决策。然而,使用预测特征需要将其与某些东西进行比较;澳大利亚警方的所有数据库都包含身体特征字段,但没有统一的标准适用于所有机构。此外,收集工作并不一致,也没有自动化系统来系统地采集此类数据。考虑一下 "卡夫卡问题":他的同龄人对他的眼睛给出了多种不同的描述。如果生物学部门利用 DNA 预测了一位 "身份不明作者 "的眼睛颜色--卡夫卡怎么会被自信地提名为撰稿人呢?我们提出了三条执法格言:(1) 为了扩大法医学的实用性,以满足警方的需求,法医学应将 FDP 付诸实施(例如,在实际操作中对感兴趣者的名单进行排序,对严重 & 案、有组织犯罪进行重点调查,或协助进行遗骸鉴定)。(2) 这种先进的生物技术最好通过所有来源的情报信息框架提供,以最大限度地增 加机会和降低风险。(3) 我们不能孤立地追求科技进步,还必须影响实施这些技术的行动态势。在本文中,我们将探讨这些问题,并就以下方面提出建议:(a) 警务实践;(b) 图像捕捉系统;(c) 研究机会。表型特征预测具有巨大潜力,可通过严格的 FORINT 框架进行有效操作。然而,还需要(继续)努力提高业务能力,这些能力是法医学对调查的有效贡献的补充,但也是必要的。
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引用次数: 0
Identification of oral bacteria as a new forensic tool for saliva detection 鉴定口腔细菌作为唾液检测的新法医工具。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-06-21 DOI: 10.1016/j.forsciint.2024.112112
Gili Betser-Cohen , Lina Mayuoni-Kirsehenbaum , Khaled Zubeidat , Yael Horev , Luba Eli Berchoer , Adiel Cohen , Doron Aframian , Merav Amiel , Avi-Hai Hovav

Body fluid detection is an important component in the toolbox of forensic scientists, with saliva playing a particularly critical role in forensic evidence. Given that each body fluid possesses a distinct microbiome, the identification of body fluid based on specific representatives of the microbiota presents an appealing approach for forensic applications. In this study, we have developed a real-time polymerase chain reaction (RT-PCR)-based method for the precise identification of saliva, focusing on three bacteria highly associated with saliva but not with other tested body fluids -Porphyromonas gingivalis, Fusobacterium nucleatum, and Streptococcus salivarius. The inclusion of these three bacterial species enhances the accuracy of detection and reinforces validation. Notably, specific identification of saliva was achievable even at low concentrations where Phadebas, a commonly used method for saliva detection, proved ineffective. Importantly, bacteria-based saliva detection utilizes DNA generated for small tandem repeats (STR) profiling, facilitating seamless integration into forensic laboratories and optimizing DNA sample utilization. This study collectively proposes an effective bacterial DNA-based approach for saliva identification, demonstrating promising potential for forensic applications.

体液检测是法医科学家工具箱中的重要组成部分,其中唾液在法医证据中的作用尤为关键。鉴于每种体液都具有独特的微生物群,根据微生物群的特定代表对体液进行鉴定是一种具有吸引力的法医应用方法。在这项研究中,我们开发了一种基于实时聚合酶链式反应(RT-PCR)的方法来精确鉴定唾液,重点是与唾液高度相关的三种细菌,但与其他测试体液无关--牙龈卟啉单胞菌、核酸镰刀菌和唾液链球菌。这三种细菌的加入提高了检测的准确性并加强了验证。值得注意的是,即使在唾液检测常用方法 Phadebas 无效的低浓度条件下,也能对唾液进行特异性鉴定。重要的是,基于细菌的唾液检测利用了小串联重复序列(STR)图谱生成的 DNA,有利于无缝集成到法医实验室,并优化 DNA 样本的利用。本研究共同提出了一种有效的基于细菌 DNA 的唾液鉴定方法,为法医应用展示了巨大的潜力。
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引用次数: 0
Withdrawn: A systematic review of autopsy findings in deaths after COVID-19 vaccination. 撤回:对接种 COVID-19 疫苗后死亡病例尸检结果的系统性回顾。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-06-21 DOI: 10.1016/j.forsciint.2024.112115
Nicolas Hulscher, Paul E Alexander, Richard Amerling, Heather Gessling, Roger Hodkinson, William Makis, Harvey A Risch, Mark Trozzi, Peter A McCullough

This Article-in-Press has been withdrawn at the request of the Editors-in-Chief. Members of the scientific community raised concerns about this Article-in-Press following its posting online. The concerns encompassed. • Inappropriate citation of references. • Inappropriate design of methodology. • Errors, misrepresentation, and lack of factual support for the conclusions. • Failure to recognise and cite disconfirming evidence. The concerns were shared with the authors, who prepared a response and submitted a revised manuscript for consideration by the journal. In consideration of the extent of the concerns raised and the responses from the authors, the journal sent the revised manuscript to two independent peer-reviewers. The peer-reviewers concluded that the revised manuscript did not sufficiently address the concerns raised by the community and that it was not suitable for publication in the journal. The authors disagree with this withdrawal and dispute the grounds for it. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/policies/article-withdrawal.

应主编的要求,这篇报刊文章已被撤回。这篇报刊文章在网上发表后,科学界人士对其表示了关注。这些问题包括- 引用参考文献不当。- 方法设计不当。- 结论错误、失实,缺乏事实支持。- 未能识别和引用不确定的证据。这些问题已告知作者,作者准备了答复,并提交了修订稿供期刊审议。考虑到所提问题的严重程度和作者的答复,期刊将修订稿送交两位独立同行评审。同行评审员的结论是,修订稿没有充分解决社区提出的问题,不适合在期刊上发表。作者不同意撤稿,并对撤稿理由提出异议。完整的爱思唯尔撤稿政策可在 https://www.elsevier.com/about/policies/article-withdrawal 上找到。
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引用次数: 0
A study into the natural occurrence of inorganic ions relevant to forensic explosives investigations on human hands 研究与法医爆炸物调查有关的无机离子在人手上的自然存在。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-06-20 DOI: 10.1016/j.forsciint.2024.112119
I.M. van Damme , A.W.C. Hulsbergen , S. Allers , K.D.B. Bezemer , J.V. Miller , A.C. van Asten

The natural occurrence of 16 inorganic ions relevant to forensic explosives investigations on human hands was studied to support the evaluation of activity-level propositions when such traces are found on the hands or in the fingerprints of a suspect. A total of 594 hand swab extracts from 297 participants throughout Europe and the United States of America were analyzed using Ion Chromatography – Mass Spectrometry. The data provides a reference framework for future covert investigations and forensic casework. The results indicate that thiocyanate, chlorate, nitrite, lithium, strontium, and barium are rarely detected on the hands of individuals who have had no direct contact with explosives (P<0.03) and in quantities below 6 µg. Perchlorate contamination sporadically occurs without deliberately handling perchlorates (P=0.03), albeit at low levels (<12 µg). It also seems that the presence of perchlorate on hands is generally related to professions that involve explosives. Detecting substantial amounts of any of these rare ions on a suspect’s hands would require a specific explanation. Because legitimate activities exist that can also result in elevated levels of ions of interest on hands, the context surrounding their presence has to be carefully assessed for each individual case.

研究了与法医爆炸物调查有关的 16 种无机离子在人手上的自然存在情况,以便在嫌疑人手上或指纹中发现此类痕迹时,支持对活动水平命题的评估。使用离子色谱-质谱法分析了来自欧洲和美国 297 名参与者的 594 份手拭子提取物。这些数据为今后的秘密调查和法医办案提供了参考框架。结果表明,在没有直接接触过爆炸物的人的手上很少检测到硫氰酸盐、氯酸盐、亚硝酸盐、锂、锶和钡(P<0.05)。
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引用次数: 0
Assessing geospatial models to explain the occurrence of clandestine graves in Mexico 评估地理空间模型以解释墨西哥秘密坟墓的出现。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-06-19 DOI: 10.1016/j.forsciint.2024.112114
J.L. Silván-Cárdenas, Ana J. Alegre-Mondragón, C. Silva-Arias

We present an assessment of several geospatial layers proposed as models for detecting clandestine graves in Mexico. The analyses were based on adapting the classical ROC curves to geospatial data (gROC) using the fraction of the predicted area instead of the false positive rate. Grave locations were obtained for ten Mexican states that represent the most conflicting regions in Mexico, and 30 layers were computed to represent geospatial models for grave detection. The gROC analysis confirmed that the travel time from urban streets to grave locations was the most critical variable for detecting graves, followed by nighttime light brightness and population density, whereas, contrary to the rationale, a previously proposed visibility index is less correlated with grave locations. We were also able to deduce which variables are most relevant in each state and to determine optimal thresholds for the selected variables.

我们对作为墨西哥地下坟墓探测模型提出的几个地理空间层进行了评估。分析的基础是将经典的 ROC 曲线应用于地理空间数据(gROC),使用预测面积的分数而不是误报率。我们获得了墨西哥十个州的坟墓位置,这些州代表了墨西哥冲突最激烈的地区,我们计算了 30 个图层来代表坟墓检测的地理空间模型。gROC 分析证实,从城市街道到坟墓位置的旅行时间是检测坟墓的最关键变量,其次是夜间光亮度和人口密度,而与此相悖的是,之前提出的能见度指数与坟墓位置的相关性较低。我们还能够推断出哪些变量与每个州最为相关,并确定所选变量的最佳阈值。
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引用次数: 0
Detection of new metabolites of risperidone in the solid tissues and body fluids obtained from two cadavers by high resolution tandem mass spectrometry 利用高分辨串联质谱法检测两具尸体固体组织和体液中利培酮的新代谢物
IF 2.2 3区 医学 Q2 Medicine Pub Date : 2024-06-19 DOI: 10.1016/j.forsciint.2024.112117
Kayoko Minakata , Hideki Nozawa , Itaru Yamagishi , Kenta Yuyama , Masako Suzuki , Takuya Kitamoto , Minako Kondo , Osamu Suzuki , Koutaro Hasegawa

Risperidone (Ris) is a second-generation antipsychotic that belongs to the chemical class of benzisoxazole derivatives. 9-Hydroxy (9OH-) Ris is well known among the six reported metabolites of Ris and had been examined using not only blood but also other matrices, but the other five metabolites reported such as benzisoxazole ring-cleaved Ris (c-Ris) and c-9OH-Ris had been detected only in blood, urine and feces. In the present work, large peaks of c-Ris and c-9OH-Ris were detected in the liver, kidney, cerebrum, blood, pericardial fluid, bile and urine obtained from two cadavers. There is a potential that c-Ris and c-9OH-Ris will be good markers to prove Ris consumption in forensic toxicology cases. For example, the peak ratios of c-Ris against the parent Ris in the kidney and blood were as high as 3.9 and 3.6 in cadaver 1; and 7.0 and 7.9 in cadaver 2, respectively. In addition to the previously reported six metabolites, five new metabolites such as dehydrogenated-Ris, 7-keto-Ris and three benzisoxazole ring-cleaved metabolites were disclosed in the present work, and the pathways for the totally eleven metabolites detected in human solid tissues and body fluids have also been proposed, because such pathways were neither reported nor discussed previously.

利培酮(Risperidone,Ris)是第二代抗精神病药物,属于苯并异噁唑衍生物的化学类别。在已报道的六种利培酮代谢物中,9-羟基(9OH-)利培酮是众所周知的,不仅在血液中,而且还在其他基质中进行了检测,但已报道的其他五种代谢物,如苯并异噁唑环裂利培酮(c-Ris)和 c-9OH-Ris 只在血液、尿液和粪便中检测到。在本研究中,从两具尸体的肝、肾、脑、血液、心包液、胆汁和尿液中检测到了大量的 c-Ris 和 c-9OH-Ris。在法医毒理学案件中,c-Ris 和 c-9OH-Ris 有可能成为证明 Ris 消费量的良好标记。例如,在尸体 1 的肾脏和血液中,c-Ris 与母体 Ris 的峰值比分别高达 3.9 和 3.6;在尸体 2 的肾脏和血液中,c-Ris 与母体 Ris 的峰值比分别高达 7.0 和 7.9。除了先前报告的六种代谢物外,本研究还发现了五种新的代谢物,如脱氢-Ris、7-酮-Ris 和三种苯并异噁唑环裂解代谢物,并提出了在人体固体组织和体液中检测到的全部十一种代谢物的途径,因为这些途径以前既未报告也未讨论过。
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引用次数: 0
N,N-dimethylpentylone poisoning: Clinical manifestations, analytical detection, and metabolic characterization N,N-二甲基戊酮中毒:临床表现、分析检测和代谢特征
IF 2.2 3区 医学 Q2 Medicine Pub Date : 2024-06-18 DOI: 10.1016/j.forsciint.2024.112116
H.S. Leung , Magdalene H.Y. Tang , H.F. Tong , Y.K. Chong

Introduction

The proliferation of new psychoactive substances (NPS) poses a significant challenge to clinical and forensic toxicology laboratories. N,N-dimethylpentylone, a novel synthetic cathinone, has emerged as a public health concern. The aims of this study are to describe the clinical presentation of N,N-dimethylpentylone poisoning, to describe detection methods, and to deduce its metabolic pathways.

Methods

Clinical data was collected and reviewed retrospectively from patients with confirmed N,N-dimethylpentylone exposure. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to identify N,N-dimethylpentylone and its metabolites in urine samples. The metabolic pathway was characterised by comparison of the detected substances with reference standards.

Results

Eight cases were included in the case series. Seven different metabolites of N,N-dimethylpentylone were identified in in vivo patient urine samples, where the two major metabolic pathways were proposed to be opening of the 5-membered ring and reduction of carboxide. All patients presented with neuropsychiatric and/or cardiovascular symptoms. Co-ingestion with other substances was reported in all cases. One patient requiring intensive care was described in detail. All patients eventually recovered. The analytical method allowed the simultaneous identification of N,N-dimethylpentylone, pentylone and bisdesmethyl-N,N-dimethylpentylone, as well as other drugs of abuse in patient samples.

Conclusion

N,N-dimethylpentylone appears to be less potent than its metabolite pentylone. Co-ingestion with other drugs of abuse is common. Poisoning cases have neuropsychiatric and cardiovascular manifestations. An updated and comprehensive laboratory method is needed for its detection.

导言新精神活性物质(NPS)的扩散给临床和法医毒理学实验室带来了巨大挑战。N,N-二甲基戊酮是一种新型合成卡西酮,已成为一个公共卫生问题。本研究旨在描述 N,N-二甲基戊酮中毒的临床表现,介绍检测方法,并推断其代谢途径。采用液相色谱-串联质谱法(LC-MS/MS)鉴定尿样中的 N,N-二甲基戊酮及其代谢物。通过将检测到的物质与参考标准进行比较,确定代谢途径的特征。在患者尿样中发现了七种不同的 N,N-二甲基戊酮代谢物,其中两种主要的代谢途径被认为是五元环的打开和羧基的还原。所有患者都出现了神经精神和/或心血管症状。所有病例都报告了与其他物质同时摄入的情况。对一名需要重症监护的患者进行了详细描述。所有患者最终都康复了。分析方法可同时鉴定病人样本中的 N,N-二甲基戊酮、戊酮和双去甲基-N,N-二甲基戊酮以及其他滥用药物。与其他滥用药物同时摄入很常见。中毒病例有神经精神和心血管方面的表现。需要一种最新的综合实验室方法来检测它。
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引用次数: 0
YHP: Y-chromosome Haplogroup Predictor for predicting male lineages based on Y-STRs YHP:根据 Y-STR 预测男性世系的 Y 染色体单倍群预测器。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-06-18 DOI: 10.1016/j.forsciint.2024.112113
Mengyuan Song , Yuxiang Zhou , Chenxi Zhao , Feng Song , Yiping Hou

Human Y chromosome reflects the evolutionary process of males. Male lineage tracing by Y chromosome is of great use in evolutionary, forensic, and anthropological studies. Identifying the male lineage based on the specific distribution of Y haplogroups narrows down the investigation scope, which has been used in forensic scenarios. However, existing software aids in familial searching using Y-STRs (Y-chromosome short tandem repeats) to predict Y-SNP (Y-chromosome single nucleotide polymorphism) haplogroups, they often lack resolution. In this study, we developed YHP (Y Haplogroup Predictor), a novel software offering high-resolution haplogroup inference without requiring extensive Y-SNP sequencing. Leveraging existing datasets (219 haplogroups, 4064 samples in total), YHP predicts haplogroups with 0.923 accuracy under the highest haplogroup resolution, employing a random forest algorithm. YHP, available on Github (https://github.com/cissy123/YHP-Y-Haplogroup-Predictor-), facilitates high-resolution haplogroup prediction, haplotype mismatch analysis, and haplotype similarity comparison. Notably, it demonstrates efficacy in East Asian populations, benefiting from training data from eight distinct East Asian ethnic populations. Moreover, it enables seamless integration of additional training sets, extending its utility to diverse populations.

人类 Y 染色体反映了男性的进化过程。通过 Y 染色体追踪男性世系在进化、法医和人类学研究中具有重要作用。根据 Y 单倍群的具体分布情况确定男性世系可缩小调查范围,这已被用于法医研究。然而,现有软件在利用 Y-STR(Y 染色体短串联重复序列)预测 Y-SNP(Y 染色体单核苷酸多态性)单倍群进行家族搜索时,往往缺乏分辨率。在这项研究中,我们开发了 YHP(Y Haplogroup Predictor),这是一款无需大量 Y-SNP 测序就能提供高分辨率单倍群推断的新型软件。利用现有数据集(219 个单倍群,共 4064 个样本),YHP 采用随机森林算法,在最高单倍群分辨率下预测单倍群的准确率为 0.923。YHP 可在 Github (https://github.com/cissy123/YHP-Y-Haplogroup-Predictor-) 上下载,它有助于高分辨率单倍群预测、单倍型错配分析和单倍型相似性比较。值得注意的是,它在东亚人群中显示出功效,从八个不同的东亚种族人群的训练数据中获益匪浅。此外,它还能无缝集成更多的训练集,将其用途扩展到不同的人群。
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Forensic science international
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