Darianne C Cloudy, Edward L Boone, Kristi Kuehnert, Chastyn Smith, Jordan O Cox, Sarah J Seashols-Williams, Tracey Dawson Green
{"title":"Statistical methods for discrimination of STR genotypes using high resolution melt curve data.","authors":"Darianne C Cloudy, Edward L Boone, Kristi Kuehnert, Chastyn Smith, Jordan O Cox, Sarah J Seashols-Williams, Tracey Dawson Green","doi":"10.1007/s00414-024-03289-x","DOIUrl":"10.1007/s00414-024-03289-x","url":null,"abstract":"<p><p>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<sup>®</sup> HRM<sup>®</sup> 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<sup>®</sup> Q qPCR instrument and EvaGreen<sup>®</sup> 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.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2281-2288"},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141599269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pablo Millares Martin, Matthew J Allsop, Paul Carder
{"title":"Looking at the future of the medical certification of cause of death (MCCD) in England and Wales.","authors":"Pablo Millares Martin, Matthew J Allsop, Paul Carder","doi":"10.1007/s00414-024-03292-2","DOIUrl":"10.1007/s00414-024-03292-2","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2583-2585"},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Variations in cuticular hydrocarbons of Calliphora vicina (Diptera: Calliphoridae) empty puparia: Insights for estimating late postmortem intervals.","authors":"Swaima Sharif, Cora Wunder, Jens Amendt, Ayesha Qamar","doi":"10.1007/s00414-024-03296-y","DOIUrl":"10.1007/s00414-024-03296-y","url":null,"abstract":"<p><p>Necrophagous flies, particularly blowflies, serve as vital indicators in forensic entomology and ecological studies, contributing to minimum postmortem interval estimations and environmental monitoring. The study investigates variations in the predominant cuticular hydrocarbons (CHCs) viz. n-C25, n-C27, n-C28, and n-C29 of empty puparia of Calliphora vicina Robineau-Desvoidy, 1830, (Diptera: Calliphoridae) across diverse environmental conditions, including burial, above-ground and indoor settings, over 90 days. Notable trends include a significant decrease in n-C25 concentrations in buried and above-ground conditions over time, while n-C27 concentrations decline in buried and above-ground conditions but remain stable indoors. Burial conditions show significant declines in n-C27 and n-C29 concentrations over time, indicating environmental influences. Conversely, above-ground conditions exhibit uniform declines in all hydrocarbons. Indoor conditions remain relatively stable, with weak correlations between weathering time and CHC concentrations. Additionally, machine learning techniques, specifically Extreme Gradient Boosting (XGBoost), are employed for age estimation of empty puparia, yielding accurate predictions across different outdoor and indoor conditions. These findings highlight the subtle responses of CHC profiles to environmental stimuli, underscoring the importance of considering environmental factors in forensic entomology and ecological research. The study advances the understanding of insect remnant degradation processes and their forensic implications. Furthermore, integrating machine learning with entomological expertise offers standardized methodologies for age determination, enhancing the reliability of entomological evidence in legal contexts and paving the way for future research and development.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2717-2733"},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141893373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Forensic age estimation in adults based on multidetector computed tomography analysis of bone density in the medial meta-epiphyseal region of clavicle.","authors":"Lei Shi, Shuai Luo, Meng Liu, Xing-Tao Zhang, Yu-Chi Zhou, Hui-Kun Yang, Zhen-Hua Deng, Meng-Jun Zhan, Yi-Jiu Chen","doi":"10.1007/s00414-024-03315-y","DOIUrl":"10.1007/s00414-024-03315-y","url":null,"abstract":"<p><p>The aim of this study was to investigate the potential of using multidetector computed tomography (MDCT) to measure the bone mineral density (BMD) in the medial meta-epiphyseal region of clavicle (MERC) for adult age estimation. A total of 1064 chest MDCT scans from individuals aged 21 to 102 years were utilized to determine the MERC BMD. The Mimics software was used for the BMD measurements, and the average BMD of both MERC was also calculated. Regression analysis was conducted with chronological age as a dependent variable and MERC BMD as an independent variable to establish a mathematical model for age estimation. The mean absolute error (MAE) was calculated to evaluate the accuracy of the regression model using an independent validation sample. Among all the models, the cubic regression model showed the highest correlation between MERC BMD and chronological age and also provided the most accurate age prediction for both males and females (MAE = 9.41 for males, MAE = 10.38 for females). Our study suggests that BMD measured by MERC can be utilized for age estimation in adults when more reliable indicators are not available.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2491-2497"},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Integrated Assessment of GFAP and UCH-L1 for their utility in severity assessment and outcome prediction in Traumatic Brain Injury.","authors":"Deepu Mathew, Purvi Purohit, Ashita Gadwal, Abhishek Anil, Raghavendra Kumar Sharma, Vikas P Meshram, Puneet Setia","doi":"10.1007/s00414-024-03287-z","DOIUrl":"10.1007/s00414-024-03287-z","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to explore the potential of glial fibrillary acidic protein (GFAP) and ubiquitin C-terminal hydrolase-L1 (UCH-L1) as biomarkers for diagnosis and prognosis in mild and severe TBI cases, including TBI-related deaths.</p><p><strong>Methods: </strong>This prospective cohort study includes 40 cases each of mild, severe, fatal TBI cases, and 40 healthy controls. Serum samples were collected from live patients at 8 and 20 h post injury for UCH-L1 and GFAP respectively, and from deceased patients within 6 h of death.</p><p><strong>Results: </strong>Elevated levels of both GFAP and UCH-L1 were observed in patients with severe and fatal TBI cases. These biomarkers exhibited promising potential for predicting various Glasgow Outcome Scale Extended (GOSE) categories. Combining GFAP and UCH-L1 yielded higher predictive accuracy both for diagnosis and prognosis in TBI cases. The study additionally established specific cut-off levels for GFAP and UCH-L1 stratified according to the severity and prognosis.</p><p><strong>Conclusion: </strong>GFAP and UCH-L1 individually demonstrated moderate to good discrimination capacity in predicting TBI severity and functional outcomes. However, combining these biomarkers is recommended for improved diagnostic and prognostic utility. This precision tool can enhance patient care, enabling tailored treatment plans, ultimately reducing morbidity and mortality rates in TBI cases.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2559-2568"},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141558748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nicola Galante, Maria Francesca Bedeschi, Benedetta Beltrami, Paolo Bailo, Laura Alicia Silva Palomino, Andrea Piccinini
{"title":"Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments.","authors":"Nicola Galante, Maria Francesca Bedeschi, Benedetta Beltrami, Paolo Bailo, Laura Alicia Silva Palomino, Andrea Piccinini","doi":"10.1007/s00414-024-03290-4","DOIUrl":"10.1007/s00414-024-03290-4","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2507-2522"},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dorothee Geisenberger, Markus Große Perdekamp, Matthieu Glardon, Jan Kromeier, Stefan Pollak, Annette Thierauf-Emberger
{"title":"Distribution of bone fragments in angled shots: an experimental study conducted on composite models containing artificial bone plates.","authors":"Dorothee Geisenberger, Markus Große Perdekamp, Matthieu Glardon, Jan Kromeier, Stefan Pollak, Annette Thierauf-Emberger","doi":"10.1007/s00414-024-03307-y","DOIUrl":"10.1007/s00414-024-03307-y","url":null,"abstract":"<p><p>In conventional gunshot injuries to targets containing bone the resulting osseous fragments do not precede but follow the bullet on its further way through adjacent soft tissues. The term \"secondary projectiles\" for the particles does not appear to be appropriate since they are not believed to have enough energy necessary for creating their own wound channels away from the temporary cavity. Former studies have shown that in angled shots to glass panes the bulk of splinters does not follow the bullet's trajectory: The majority of the glass fragments, especially the larger ones, move at right angles to the pane shot through. The aim of the presented study was to examine whether osseous fragments behave like glass splinters in angled shots to flat synthetic bone. In this context, it should also be assessed, whether the bone fragments might act as secondary projectiles in rare cases. To answer these questions, test shots were fired to composite models consisting of flat synthetic bone and ballistic gelatin. Pistol cartridges 9 mm Luger were used to fire the shots which were video-documented with a high-speed camera. Afterwards, the composite models underwent CT examination and macroscopic inspection. Video-documentation revealed that the larger bone particles from the perforation site move at a roughly right angle from the osseous sheet into the gelatin, causing an eccentric bulge of the temporary cavity. The smaller bone fragments were also lodged along the bullet's path, predominantly in the cracks radiating from the permanent wound channel.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2339-2344"},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Root canal widths of mandibular molars in predicting the legal age threshold 18 years in a sample of juveniles and sub-adults of south-indian origin: an orthopantomographic study.","authors":"Priyanka Vedula, Ashalata Gannepalli, Sudheer Babu Balla, Gayathri Ch, Anjum Bushra, Bhargavi Krishna Ayinampudi","doi":"10.1007/s00414-024-03300-5","DOIUrl":"10.1007/s00414-024-03300-5","url":null,"abstract":"<p><p>Pursuing a proficient age estimation methodology introducing novel radiographic methods remains an ongoing and demanding aspect of forensic and medicolegal research. In 2017, Roberts GJ et al. (J Forensic Sci 62(2):351-4, 2017) described a new radiographic method, i.e., root canal width (RCW) patterns to assign a subject to above 18-year-age threshold. Since then, few researchers have investigated the validity of this radiographic method in other populations. The present study aimed to test the usefulness of these RCW patterns in predicting 18 years in a sample of South Indian juveniles and sub-adults aged between 16 and 23. Descriptive analysis revealed that pattern-A was initially observed at a minimum age of 16.08 and 16.22 years in males and females. Pattern-B at 16.31 years in males and 16.22 years in females, while pattern-C was initially recorded at 18.73 years in males and 19.01 years in females, respectively. In summary, if an individual, regardless of sex, exhibits a fully-formed (apex closed) mandibular first, second, and third molars and concurrently displays RCW-C, there is a strong likelihood that the person has exceeded the legally relevant age of 18 years. However, due to higher rate of technically unacceptable errors (adults wrongly identified as individuals below 18 years), reliance on this method alone should be restricted, and it is advisable to combine it with other methods.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2499-2506"},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141765998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Patrick Thevissen, Janna Waltimo-Sirén, Hanna-Maija Saarimaa, Raija Lähdesmäki, Marjut Evälahti, Mari Metsäniitty
{"title":"Comparing tooth development timing between ethnic groups, excluding nutritional and environmental influences.","authors":"Patrick Thevissen, Janna Waltimo-Sirén, Hanna-Maija Saarimaa, Raija Lähdesmäki, Marjut Evälahti, Mari Metsäniitty","doi":"10.1007/s00414-024-03279-z","DOIUrl":"10.1007/s00414-024-03279-z","url":null,"abstract":"<p><p>The timing of dental development in ethnic Finns and Somalis, who were born and living in Finland, was compared, with efforts to minimize environmental bias. The developmental status of seven lower left permanent teeth were staged according to Demirjian et al., using panoramic radiographs from 2,100 Finnish and 808 Somali females and males, aged 2 to 23 years. For each tooth, a continuation-ratio model was constructed to analyze the allocated stages as a function of sex and ethnic origin. Several statistically significant differences in mean age of certain tooth developmental stage transitions were revealed. While Somalis generally displayed stage transitions at younger age, none of the seven teeth consistently showed earlier stage transitions in Somalis compared to Finns. Within each tooth, the lowest (or highest) mean age of stage transition varied without any discernible pattern between the two ethnic groups. Overall, the observed differences in mean age of stage transition between the groups was minimal, suggesting a low impact on clinical and forensic age assessment practice. In conclusion, the studied ethnic Finn and Somali groups with equal nutritional and /or environmental conditions exhibit similar timing in the development of all lower left permanent teeth.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2441-2457"},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ahed Alissa, Hans O Pinnschmidt, Hussam Mansour, Klaus Püschel
{"title":"Chronological age estimation based on dental mineralization for Syrian population.","authors":"Ahed Alissa, Hans O Pinnschmidt, Hussam Mansour, Klaus Püschel","doi":"10.1007/s00414-024-03295-z","DOIUrl":"10.1007/s00414-024-03295-z","url":null,"abstract":"<p><p>Dental age assessment based on evaluating dental mineralization status is one of the most common methods used in forensic practice. The aim of this study is to enhance the accuracy of age diagnostics and provide reference data from the Syrian population for forensic application. After several selection steps, a total of 280 orthopantomograms (OPGs) from 140 males and 140 females from the Syrian population divided into 14 age groups between 12 and 25 years were analysed. Based on Demirjian's classification system, the mineralization stages of third molars (18, 28, 38 and 48) as well as lower second molars (37 and 47) were evaluated. Statistical investigations and evaluations were carried out to estimate the marginal probabilities of the subjects having attained ages 14 and 18 by generalized estimating equation models. Our results show that no significant differences can be revealed in the mineralization status with respect to jaw side and sex. In the Syrian population, third molars showing mineralization stage G provide evidence of reaching the age of 14 years with the highest standard of proof (\"beyond reasonable doubt\"). A completed mineralization in lower second molars (stage H) provides very high marginal probabilities (more than 90%) of the subjects having attained age 14 years. Nevertheless, this cannot exclude an age under 14 years. For the age threshold of 18 years, third molars showing incomplete root development (G dental stage or lower) are associated with a low probability (less than 40%) of the subject having reached 18 years of age. A person's probability of having attained 18 years of age is very high (82- 95%) when the roots of third molars are fully developed (stage H). Nevertheless, third molars at stage H do not conclusively exclude an age under 18 years.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2481-2490"},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}