Medicine, Legal

Article Medicine, Legal

Genetic diversity and phylogenetic analysis of Chinese Han and Li ethnic populations from Hainan Island by 30 autosomal insertion/deletion polymorphisms

Jing Liu, Ziwei Ye, Zheng Wang, Xing Zou, Guanglin He, Mengge Wang, Shouyu Wang, Yiping Hou

Summary: In this study, people of Han and Li ethnicities from Hainan Island were genotyped using the Investigator DIPplex kit, and the genetic relationships among these populations were investigated. The results showed that the 30 autosomal InDels are highly polymorphic and informative.

FORENSIC SCIENCES RESEARCH (2022)

Article Genetics & Heredity

The comparison of DNA mixture profiles with multiple persons of interest

K. Slooten

Summary: This article introduces a systematic approach to interpreting DNA mixture data by describing all relevant hypotheses and computing their likelihoods. By summarizing the results based on the likelihoods of all considered hypotheses, it can help to distinguish between different hypotheses. The table of likelihoods of the considered hypotheses is argued to be a more natural analog of the likelihood ratio provided in simple cases with one person of interest and two considered hypotheses.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2022)

Article Medicine, Legal

Forensic characterization of 124 SNPs in the central Indian population using precision ID Identity Panel through next-generation sequencing

Hirak Ranjan Dash, Eduardo Avila, Soumya Ranjan Jena, Kamlesh Kaitholia, Radhika Agarwal, Clarice Sampaio Alho, Ankit Srivastava, Anil Kumar Singh

Summary: The emergence of next-generation sequencing technology has led to the exploration of SNP markers as an alternative to traditional capillary electrophoresis-based STR typing, offering advantages such as low mutation rates and short amplicons. To achieve a sufficient level of discrimination, a higher number of SNPs need to be characterized simultaneously, highlighting the usefulness of NGS technology. Analysis of 124 SNPs in the central Indian population demonstrated the potential utility of SNP markers for forensic applications.

INTERNATIONAL JOURNAL OF LEGAL MEDICINE (2022)

Article Genetics & Heredity

Nanopore sequencing of a forensic combined STR and SNP multiplex

Olivier Tytgat, Sonja Skevin, Dieter Deforce, Filip Van Nieuwerburgh

Summary: Nanopore sequencing for forensic purposes, combined with advanced basecallers and analysis methods, resulted in significantly improved STR genotyping accuracy compared to previous studies, while also achieving high accuracy in iso-allele detection.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2022)

Article Genetics & Heredity

Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device

Courtney L. Hall, Rupesh K. Kesharwani, Nicole R. Phillips, John Planz, Fritz J. Sedlazeck, Roxanne R. Zascavage

Summary: Short tandem repeat (STR) markers are important in forensic genetic analysis, and next generation sequencing can provide more detailed information. This study demonstrates a new method (STRspy) that can accurately obtain STR loci and their surrounding sequence information from third generation sequencing data with high error rates.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2022)

Article Medicine, Legal

The Botanical Safety Consortium: A public-private partnership to enhance the botanical safety toolkit

Constance A. Mitchell, Joseph T. Dever, Stefan Gafner, James C. Griffiths, Daniel S. Marsman, Cynthia Rider, Cara Welch, Michelle R. Embry

Summary: This commentary introduces the mission and objectives of the Botanical Safety Consortium (BSC), a public-private partnership focused on enhancing the safety evaluation of botanical products. The BSC aims to engage with global stakeholders, establish appropriate levels of chemical characterization, identify suitable methodologies for evaluating botanical safety, and integrate these tools into an evaluation framework. This initiative provides a platform for collaboration among scientists from various sectors to ensure the safety of botanical dietary supplements.

REGULATORY TOXICOLOGY AND PHARMACOLOGY (2022)

Article Medicine, Legal

Rapid analysis of gunshot residues with single-particle inductively coupled plasma time-of-flight mass spectrometry

Robert Bruenjes, Jan Schueuerman, Frank von der Kammer, Thilo Hofmann

Summary: This article presents a new method based on single-particle inductively coupled plasma time-of-flight mass spectrometry (sp-ICP-TOF-MS) for characterizing gunshot residues (GSRs) from different types of ammunition. This method enables rapid screening and identification of elemental composition in GSR particles, supports existing GSR detection methods, and offers the possibility of multi-elemental fingerprinting analysis of GSR particles.

FORENSIC SCIENCE INTERNATIONAL (2022)

Article Genetics & Heredity

Improving the regional Y-STR haplotype resolution utilizing haplogroup-determining Y-SNPs and the application of machine learning in Y-SNP haplogroup prediction in a forensic Y-STR database: A pilot study on male Chinese Yunnan Zhaoyang Han population

Caiyong Yin, Ziwei He, Yi Wang, Xi He, Xiao Zhang, Mingying Xia, Dian Zhai, Kaichuang Chang, Xueyun Chen, Xingneng Chen, Feng Chen, Li Jin, Shilin Li

Summary: This study focused on improving the resolution of the Y-STR dataset by utilizing a Y-SNP Pedigree Tagging System in a regional Y-DNA database. Results indicated the critical role of haplogroups in enhancing regional Y-STR haplotype resolution and the ability of Y-SNPs to correct misclassifications from Y-STRs, ultimately improving prediction accuracy.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2022)

Article Medicine, Legal

Increasing use of sodium nitrite in suicides-an emerging trend

Lilli Stephenson, Stephen Wills, Corinna van den Heuvel, Melissa Humphries, Roger W. Byard

Summary: Sodium nitrite is a compound widely used in various fields, but its ingestion can be fatal. This study in South Australia reveals an increasing trend in sodium nitrite deaths, with males and individuals with a history of depression and/or suicidal ideation being overrepresented. The study highlights the importance of analyzing limitations and emphasizes the need for attention to sodium nitrite's accessibility and use in suicides.

FORENSIC SCIENCE MEDICINE AND PATHOLOGY (2022)

Article Genetics & Heredity

Practical forensic use of kinship determination using high-density SNP profiling based on a microarray platform, focusing on low-quantity DNA

Kayoko Yagasaki, Akihiko Mabuchi, Toshihide Higashino, Jing Hao Wong, Nao Nishida, Akihiro Fujimoto, Katsushi Tokunaga

Summary: Instead of traditional STR profiling, the genetic genealogy method using high-density SNP profiles has become a powerful tool for kinship determination in forensic genetics. This study investigated the tolerance and viability of kinship discrimination based on a high-density SNP profile for low-quantity DNA samples. The findings showed that low-quality SNP profiles contained genotyping errors, leading to incorrect kinship determination results. A novel method was developed to select robust SNPs and improve the accuracy of kinship analysis.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2022)

Review Medicine, Legal

The role of psychological autopsy in investigating a case of atypical suicide in schizophrenia: a case report with a brief review of literature

Roxana-Mihaela Crisan, Ciprian Ionut Bacila, Silviu Morar

Summary: This study focuses on the link between self-harm and suicide intent, and outlines a positive diagnosis of an atypical suicide case through the use of psychological autopsy method. The findings emphasize the importance of psychological autopsy in diagnosing suicide, making a rigorous differential diagnosis, and identifying suicide risk factors.

EGYPTIAN JOURNAL OF FORENSIC SCIENCES (2022)

Article Medicine, Legal

European Council of Legal Medicine (ECLM) on-site inspection forms for forensic pathology, anthropology, odontology, genetics, entomology and toxicology for forensic and medico-legal scene and corpse investigation: the Parma form

R. Cecchi, D. Cusack, B. Ludes, B. Madea, D. N. Vieira, E. Keller, J. Payne-James, A. Sajantila, M. Vali, R. Zoia, N. Cucurachi, M. L. Schirripa, F. Marezza, L. Anzillotti, L. Donato, C. Cattaneo, D. Favretto, S. Pelotti, V Pinchi, S. Vanin, M. Gherardi

Summary: This publication provides guidance for forensic specialists and pathologists in conducting on-site death scene investigations, ensuring the correct collection and storage of evidence and documentation of all steps. It also supports collaboration with other forensic experts.

INTERNATIONAL JOURNAL OF LEGAL MEDICINE (2022)

Article Medicine, Legal

The logic of forensic pathology opinion

Hans H. de Boer, Judith Fronczek, Charles E. H. Berger, Marjan Sjerps

Summary: Evaluating evidence and providing opinions are crucial in forensic science. Bayes' theorem is a logical method that can help forensic pathologists provide accurate and relevant opinions. However, its adoption in forensic pathology is slow to catch on. This article explores the benefits of Bayes' theorem and suggests a way forward in its implementation.

INTERNATIONAL JOURNAL OF LEGAL MEDICINE (2022)

Article Genetics & Heredity

A highly polymorphic panel of 40-plex microhaplotypes for the Chinese Han population and its application in estimating the number of contributors in DNA mixtures

Jiawen Yang, Ji Chen, Qiang Ji, Youjia Yu, Kai Li, Xiaochao Kong, Sumei Xie, Wenxuan Zhan, Zhengsheng Mao, Yanfang Yu, Ding Li, Peng Chen, Feng Chen

Summary: This study developed a multiplex panel containing 40 highly polymorphic MHs for the Chinese Han population, demonstrating its forensic value and application in predicting the number of contributors in DNA mixtures. A machine learning model based on this panel was successfully developed, achieving high accuracies in estimating the number of contributors in artificial DNA mixtures. Overall, the panel showed potential value for forensic identification and NOC estimation in DNA mixtures.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2022)

Article Medicine, Legal

The Conundrum of the PFOA human half-life, an international collaboration

Jerry Campbell, Harvey Clewell, Tony Cox, Michael Dourson, Shannon Ethridge, Norman Forsberg, Bernard Gadagbui, Ali Hamade, Ravi Naidu, Nathan Pechacek, Tiago Severo Peixe, Robyn Prueitt, Mahesh Rachamalla, Lorenz Rhomberg, James Smith, Nitin Verma

Summary: Through collaboration between multiple independent working groups, the study suggests that the half-life of PFOA in the human body is likely less than 2 years, with the best estimate being 1.3 years. This finding takes into account various uncertainties, but further studies of similar design are needed to validate the results.

REGULATORY TOXICOLOGY AND PHARMACOLOGY (2022)

Article Medicine, Legal

Model systems and organisms for addressing inter- and intra-species variability in risk assessment

Ivan Rusyn, Weihsueh A. Chiu, Fred A. Wright

Summary: Addressing the differences in potential hazardous effects of chemicals within and between species has been a longstanding challenge in human health risk assessment. Recently, there have been developments in experimental model systems and organisms that can quantify population variability in toxicokinetics and toxicodynamics for specific chemicals. This review highlights the use of population-based in vitro and in vivo models in addressing the variability in traditional risk assessments and discusses the challenges and opportunities in broadening the application of these models. The conclusion is that population-based models are beginning to fill the data gaps in inter- and intra-species variability.

REGULATORY TOXICOLOGY AND PHARMACOLOGY (2022)

Article Ethics

Financing and Delivering Pre-Exposure Prophylaxis (PrEP) to End the HIV Epidemic

Amy Killelea, Jeremiah Johnson, Derek T. Dangerfield, Chris Beyrer, Matthew McGough, John McIntyre, Rebekah E. Gee, Jeromie Ballreich, Rena Conti, Tim Horn, Jim Pickett, Joshua M. Sharfstein

Summary: The document discusses the stagnation of HIV progress in the U.S. and the under-utilization of pre-exposure prophylaxis (PrEP) medications. It proposes a financing and delivery system to improve accessibility to PrEP for the most vulnerable populations and bring an end to the HIV epidemic.

JOURNAL OF LAW MEDICINE & ETHICS (2022)

Article Medicine, Legal

Fatal outcome of SARS-CoV-2 infection (B1.1.7) in a 4-year-old child

Johanna Menger, Sofia Apostolidou, Carolin Edler, Inga Kniep, Robin Kobbe, Dominique Singer, Jan-Peter Sperhake

Summary: This case report describes a 4-year-old girl who died from critical acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) with B1.1.7 variant, complicated by superinfection with Pseudomonas aeruginosa and virological evidence of herpes simplex sepsis. Autopsy findings showed various lung injuries and pericarditis.

INTERNATIONAL JOURNAL OF LEGAL MEDICINE (2022)

Article Genetics & Heredity

Forensic genetic genealogy: A profile of cases solved

Tracey Leigh Dowdeswell

Summary: This research provides a systematic review of cases cleared using forensic genetic genealogy (FGG), creating a dataset and annotated bibliography for further research. FGG is primarily used to solve cases involving serial and sexual violence, particularly against vulnerable victims. The research highlights disparities in the use of FGG investigations in different areas and the need for timely clearance of cases to protect defendants' rights to a fair trial. The study also emphasizes the prevalence of wrongful convictions and prosecutions in cases that have remained open for many years.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2022)

Article Medicine, Legal

Comparison of PAC and MOAH for understanding the carcinogenic and developmental toxicity potential of mineral oils

Juan-Carlos Carrillo, Lenny Kamelia, Julija Romanuka, Olaf Kral, Allison Isola, Helena Niemela, Anna Steneholm

Summary: The carcinogenicity and developmental toxicity of unrefined mineral oil are related to the content of polycyclic aromatic compounds (PAC) with 3-7 rings. The refining process aims to remove targeted PAC from mineral oil that may contain aromatics of low toxicological concern. There are two types of aromatic substances in mineral oil: hazardous and non-hazardous. Understanding the relationship between these two types requires assessing the entire refining process and measuring the total aromatic hydrocarbons (MOAH) content in mineral oil.

REGULATORY TOXICOLOGY AND PHARMACOLOGY (2022)