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Detection of butterfly fractures of long bones through multi-slice computed tomography and micro-computed tomography 通过多层计算机断层扫描和微型计算机断层扫描检测长骨蝶形骨折
IF 1.5 4区 医学
Legal Medicine Pub Date : 2024-01-06 DOI: 10.1016/j.legalmed.2024.102394
Federica Trevissoi , Giorgia Franchetti , Paolo Fais , Andrea Gabbin , Elena Giovannini , Nicolò Martini , Maria Sech , Giorgia Todesco , Marco Pizzi , Giorgio De Conti , Chiara Giraudo , Guido Viel , Giovanni Cecchetto
{"title":"Detection of butterfly fractures of long bones through multi-slice computed tomography and micro-computed tomography","authors":"Federica Trevissoi ,&nbsp;Giorgia Franchetti ,&nbsp;Paolo Fais ,&nbsp;Andrea Gabbin ,&nbsp;Elena Giovannini ,&nbsp;Nicolò Martini ,&nbsp;Maria Sech ,&nbsp;Giorgia Todesco ,&nbsp;Marco Pizzi ,&nbsp;Giorgio De Conti ,&nbsp;Chiara Giraudo ,&nbsp;Guido Viel ,&nbsp;Giovanni Cecchetto","doi":"10.1016/j.legalmed.2024.102394","DOIUrl":"10.1016/j.legalmed.2024.102394","url":null,"abstract":"<div><p>Motor-vehicle accidents often result in lower limb injuries with biosseous fractures.</p><p>The present study aimed at comparing multi-slice computed tomography (MS-CT), micro-computed tomography (micro-CT) and external fractography for the analyses of experimentally produced biosseus leg fractures.</p><p>Briefly, 48 human legs amputated for medical reasons were defleshed and then experimentally fractured using a 3-point dynamic bending model (70,6 J of impact energy at the middle of the anterior surface of the tibia) producing 38 biosseous and 10 mono-osseous fractures with a total of 86 fractured bones. External fractography detected 63 (73,2%) “butterfly” fractures (24 (27,9%) complete and 39 (45,3%) incomplete), 14 (16,3%) “oblique” fractures, 6 (7,0%) “comminuted” fractures and 3 (3,5%) “transverse” fractures. Forty-three (43) of the 48 included legs displayed at least one butterfly fracture located at the tibia or fibula. MS-CT correctly detected and classified 16 complete and 20 incomplete butterfly fractures, failing to properly classify 27 fractures; 19 of these misclassifications led to an interpretative error on the trauma direction (i.e., 16 incomplete butterfly fractures classified as oblique fractures and 3 incomplete butterfly fractures classified as transverse). Micro-CT correctly detected and classified 22 complete and 37 incomplete butterfly fractures, failing to properly classify 4 fractures; two of these misclassifications led to an interpretative error on the trauma direction (i.e., two incomplete butterfly fractures classified as oblique fractures).</p><p>Although further studies evaluating a wider number of fractures and fracture patterns are required to drive any definitive conclusions, this preliminary experimental investigation showed that MS-CT and micro-CT represent useful tools for reconstructing the morphology of leg fractures and could be crucial for trauma analysis in the forensic context. MS-CT could be used as a screening tool, micro-CT as second level analysis and external/internal fractography as third level, confirmatory analysis.</p></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S134462232400004X/pdfft?md5=9de341abb2cc9d0845fb79d6f2143648&pid=1-s2.0-S134462232400004X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139374838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Manifestations of cruel, inhuman types of behavior and torture of Ukrainian military who died in captivity 在囚禁中死亡的乌克兰军人的残忍、不人道行为和酷刑表现
IF 1.5 4区 医学
Legal Medicine Pub Date : 2024-01-06 DOI: 10.1016/j.legalmed.2024.102395
Maryna Gunas , Volodymyr Mishalov , Kostyantyn Voroshilov , Olexandr Petroshak , Volodymyr Khyzhniak , Oksana Makarenko , Andriy Morgun , Valery Gunas , Anatolii Perebetiuk
{"title":"Manifestations of cruel, inhuman types of behavior and torture of Ukrainian military who died in captivity","authors":"Maryna Gunas ,&nbsp;Volodymyr Mishalov ,&nbsp;Kostyantyn Voroshilov ,&nbsp;Olexandr Petroshak ,&nbsp;Volodymyr Khyzhniak ,&nbsp;Oksana Makarenko ,&nbsp;Andriy Morgun ,&nbsp;Valery Gunas ,&nbsp;Anatolii Perebetiuk","doi":"10.1016/j.legalmed.2024.102395","DOIUrl":"10.1016/j.legalmed.2024.102395","url":null,"abstract":"<div><p><span>The given information and forensic medical characteristics of injuries found on the bodies of Ukrainian soldiers who were in Russian captivity and died as a result of cruel, inhuman treatment<span> and torture in 2022–2023. According to their nature and morphological features, the damage could be the result of high temperature action using hot metal objects, but more likely, the result of the use of electric current conductors (bare end of the wire). In other cases, after the exhumation of the occupied territory of the Kharkiv region, the manifestations of torture were brain injuries and fractures of the bones of the body caused by blunt hard objects with a limited surface. All the injuries described by us correspond both to the list of physical evidence of torture of the “Istanbul Protocol” and to the list of </span></span>war crimes of the “Rome Statute”.</p></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139374892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Three-dimensional surface area analyses of developing maxillary second premolar root apices for age estimation using CBCT images 利用 CBCT 图像对发育中的上颌第二前磨牙根尖进行三维表面积分析,以估算年龄
IF 1.5 4区 医学
Legal Medicine Pub Date : 2024-01-04 DOI: 10.1016/j.legalmed.2024.102391
Meghna Gohain , Muhammad Khan Asif , Phrabhakaran Nambiar , Nora Sakina Mohd Noor , Nor Hidayah Reduwan , Norliza Ibrahim
{"title":"Three-dimensional surface area analyses of developing maxillary second premolar root apices for age estimation using CBCT images","authors":"Meghna Gohain ,&nbsp;Muhammad Khan Asif ,&nbsp;Phrabhakaran Nambiar ,&nbsp;Nora Sakina Mohd Noor ,&nbsp;Nor Hidayah Reduwan ,&nbsp;Norliza Ibrahim","doi":"10.1016/j.legalmed.2024.102391","DOIUrl":"10.1016/j.legalmed.2024.102391","url":null,"abstract":"<div><p>Three-dimensional surface area analyses of developing root apices for age estimation in children and young adults have shown promising results. The current study aimed to apply this three-dimensional method to develop a regression model for estimating age in Malaysian children aged 7 to 14 using developing maxillary second premolars. A training sample of 155 cone-beam computed tomography scans (83 Malays and 72 Chinese) was analysed, and the formula was subsequently validated on an independent sample of 92 cone-beam computed tomography scans (45 Malays and 47 Chinese). The results showed a strong correlation (r = 94 %) between the chronological age as a dependent variable and the predictor variables, including root surface area of the apex, sex, ethnicity, and root development status (open/closed apices). For this model, the predictor variables accounted for 88.4 % of the variation in age except sex and ethnicity. A mean absolute error value of 0.42 indicated that this model can be reliably used for Malaysian children. In conclusion, this study recognises the method of three-dimensional surface area analyses as a valuable tool for age estimation in forensic and clinical practice. Further studies are highly recommended to assess its effectiveness across different demographic groups.</p></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139104928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A study on the possible neurotoxic effects of CUMYL-4CN-BINACA in Sprague Dawley rats 关于 CUMYL-4CN-BINACA 对 Sprague Dawley 大鼠可能产生的神经毒性作用的研究
IF 1.5 4区 医学
Legal Medicine Pub Date : 2023-12-29 DOI: 10.1016/j.legalmed.2023.102389
Ayşe Lafzi , Tuba Demirci , Neslihan Yüce , Ebru Annaç , Mustafa Çiçek , Turgay Şişman
{"title":"A study on the possible neurotoxic effects of CUMYL-4CN-BINACA in Sprague Dawley rats","authors":"Ayşe Lafzi ,&nbsp;Tuba Demirci ,&nbsp;Neslihan Yüce ,&nbsp;Ebru Annaç ,&nbsp;Mustafa Çiçek ,&nbsp;Turgay Şişman","doi":"10.1016/j.legalmed.2023.102389","DOIUrl":"10.1016/j.legalmed.2023.102389","url":null,"abstract":"<div><p>Substances such as Δ9-tetrahydrocannabinol (THC) and cannabidiol cross the blood–brain barrier. Detecting the damage of these substances in the brain provides important data in drug abuse studies. The aim of the study is to define the neurotoxicity of a novel synthetic cannabinoid (CUMYL-4CN-BINACA) in the Sprague-Dawley rats. Histopathological, immunohistochemical, behavioral, and biochemical examinations were performed to determine the acute and subacute toxicity of the cannabinoid. Three cannabinoid doses were administered for 2 days in the acute exposure groups and 14 days in the subacute exposure groups. Observations were made for 14 days and various changes such as mortality, injury, and illness were recorded daily. No mortality was determined. Serious pathological changes such as neurodegeneration, focal plague formation, vacuolation, edema, congestion, and fibrosis were observed in the cerebral cortex and hippocampus of the brain in a dose-dependent manner. Brain tissue caspase-3 activity showed that the cannabinoid triggered apoptosis in the rat brain. The detected cellular oxidative stress (higher lipid peroxidation and lower antioxidant enzyme activity) also supported neurotoxicity. Significant behavioral abnormalities were also observed in the acute groups, while no behavioral changes were detected in the subacute groups. This study showed for the first time that CUMYL-4CN-BINACA adversely affects the rat brain. It can be estimated that the abuse of the cannabinoid may harm human health in the same way.</p></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139071659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Y chromosome haplogroup N in a Japanese population is classified into three subclades, and two DYS385 loci, a duplicated Y-STR, are duplicated again in subclade N-M1819 日本人群中的 Y 染色体单倍群 N 被分为三个亚支系,在亚支系 N-M1819 中,两个重复的 Y-STR DYS385 位点再次重复
IF 1.5 4区 医学
Legal Medicine Pub Date : 2023-12-29 DOI: 10.1016/j.legalmed.2023.102390
Haruhiko Watahiki, Koji Fujii, Takashi Fukagawa, Yusuke Mita, Tetsushi Kitayama, Natsuko Mizuno
{"title":"Y chromosome haplogroup N in a Japanese population is classified into three subclades, and two DYS385 loci, a duplicated Y-STR, are duplicated again in subclade N-M1819","authors":"Haruhiko Watahiki,&nbsp;Koji Fujii,&nbsp;Takashi Fukagawa,&nbsp;Yusuke Mita,&nbsp;Tetsushi Kitayama,&nbsp;Natsuko Mizuno","doi":"10.1016/j.legalmed.2023.102390","DOIUrl":"10.1016/j.legalmed.2023.102390","url":null,"abstract":"<div><p>DYS385 is one of the major Y chromosome short tandem repeats (Y-STRs) in forensic genetics and exists as 2 copies in the human Y chromosome palindrome P4 region. In this study, we found that some samples were estimated to have ≥ 4 copies of DYS385 in Y chromosome haplogroup N in a Japanese population. Y chromosome haplogroup N is distributed widely in eastern/central Asia, Siberia, and eastern/northern Europe, and is also observed in Japan; however, little is known about haplogroup N subclades in the Japanese population. To reveal the link between increased DYS385 copy number and haplogroup N subclades, we sequenced single nucleotide polymorphisms to classify the subclades. As a result, the Japanese Y chromosomes of haplogroup N were classified into three subclades, and an increased DYS385 copy number was specific to subclade N-M1819* (N1b2*). These results are of use in forensic DNA analysis because Y-STR copy number is important for the interpretation of Y-STR typing results of male DNA mixtures and kinship analysis. We also found that DYS458.1 microvariants (DYS458 intermediate alleles with single-nucleotide insertion) were observed only in subclade N-CTS962 (N1b1b∼) samples. Given that previous studies reported that DYS458.1 microvariants are observed in Y chromosomes of haplogroup N in other populations, DYS458.1 might be used to infer haplogroup N subclades without limitation to the Japanese population. The results of this study will be beneficial not only to forensic genetics but also to anthropological studies.</p></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139061615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Differentiating suicide from homicide in sharp-force fatalities with stab and/or incised wounds: A scoping review 在锐器刺伤和/或切割伤致死事件中如何区分自杀与他杀?范围界定审查
IF 1.5 4区 医学
Legal Medicine Pub Date : 2023-12-28 DOI: 10.1016/j.legalmed.2023.102388
Zainab Fathi AlGheryafi, Fatima Foud Alnasser, Fatima Hussain Almukhtar, Fatema Abdullatef Aldajani, Fatimah Hussain Al Qassim, Zainab Mohammed Al Zakaria, Shoq Obeid Alshammari, Ritesh G. Menezes
{"title":"Differentiating suicide from homicide in sharp-force fatalities with stab and/or incised wounds: A scoping review","authors":"Zainab Fathi AlGheryafi,&nbsp;Fatima Foud Alnasser,&nbsp;Fatima Hussain Almukhtar,&nbsp;Fatema Abdullatef Aldajani,&nbsp;Fatimah Hussain Al Qassim,&nbsp;Zainab Mohammed Al Zakaria,&nbsp;Shoq Obeid Alshammari,&nbsp;Ritesh G. Menezes","doi":"10.1016/j.legalmed.2023.102388","DOIUrl":"10.1016/j.legalmed.2023.102388","url":null,"abstract":"<div><p>The majority of sharp-force fatalities with stab and/or incised wounds are homicides. However, suicidal sharp-force fatalities with stab and/or incised wounds are also reported. Thus, distinguishing suicidal stab and/or incised wounds from homicidal stab and/or incised wounds is significant from the forensic perspective. This scoping review primarily summarizes the existing research findings on the differentiation of suicide from homicide in sharp-force fatalities with stab and/or incised wounds. The literature was systematically searched on February 28, 2023, using the PubMed database. A search string formed by a combination of keywords related to suicide, homicide, and stab and incised wounds yielded 23 records. After applying the eligibility criteria, six records/studies met the inclusion criteria and were included in the present scoping review. Results showed that the predictive strength of various parameters, either individually or collectively, in diagnosing the manner of sharp-force fatality as suicide or homicide is not always hundred percent accurate. Some of the important predictors of the homicidal manner of death in sharp-force fatalities include clothing damage, presence of defense injuries, presence of injuries caused by another type of violence other than sharp-force, vertically oriented chest stabs, and sharp-force injuries in the head and back anatomical sites. Some of the important predictors of the suicidal manner of death in sharp-force fatalities include the presence of tentative injuries, sharp-force injuries to the wrist, and the presence of a suicide note.</p></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139071413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Modern suicide trend from internet 来自互联网的现代自杀趋势
IF 1.5 4区 医学
Legal Medicine Pub Date : 2023-12-27 DOI: 10.1016/j.legalmed.2023.102384
Andrea Szórádová , Dalibor Hojsík , Martin Zdarílek , Denis Valent , Ľuboš Nižnanský , Alexander Kovács , Richard Hokša , Jozef Šidlo
{"title":"Modern suicide trend from internet","authors":"Andrea Szórádová ,&nbsp;Dalibor Hojsík ,&nbsp;Martin Zdarílek ,&nbsp;Denis Valent ,&nbsp;Ľuboš Nižnanský ,&nbsp;Alexander Kovács ,&nbsp;Richard Hokša ,&nbsp;Jozef Šidlo","doi":"10.1016/j.legalmed.2023.102384","DOIUrl":"10.1016/j.legalmed.2023.102384","url":null,"abstract":"<div><h3>Introduction</h3><p>The most common suicide methods vary slightly from country to country, partly related to the availability of effective means. Societal development over the years and especially the advent of the Internet has enabled the sudden spread of new suicide methods. Recently, especially since 2019, intentional sodium nitrite poisoning has appeared on many social networks as an increasingly popular method of suicide.</p></div><div><h3>Material and Methods</h3><p>There was performed a retrospective-prospective study of the autopsy protocols of the Medico-Legal Departments of the Healthcare Surveillance Authority in Slovakia, in a period of 15 years (2008–2022). We performed the analysis of cases of death due to nitrite poisoning, focusing on cases of intentional self-harm. In all selected cases, we present complete information, including photo documentation from the place of death, as well as the results of the performed autopsy and the results of additional laboratory examinations.</p></div><div><h3>Results</h3><p>We did not record any fatal cases of unintentional, accidental consumption of sodium nitrite in Slovakia, nor any fatal cases of homicidal poisoning by this substance. However, there were three cases of intentional self-harm (completed suicide) by sodium nitrite poisoning (in 2019, 2020 and 2022).</p></div><div><h3>Conclusions</h3><p>The correct diagnosis of the cases of sodium nitrite poisoning deaths is possible only based on evaluating all the information obtained, a thorough examination of the body and the crime scene, and the correct interpretation of the findings found during a subsequent autopsy and the results of the toxicological analysis.</p></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1344622323001943/pdfft?md5=dc8203d4def0f5f299be4ba1738611bd&pid=1-s2.0-S1344622323001943-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139061594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Importance of the details in person identification 个人身份识别中细节的重要性
IF 1.5 4区 医学
Legal Medicine Pub Date : 2023-12-26 DOI: 10.1016/j.legalmed.2023.102385
Beáta Ágnes Borsay , Barbara Dóra Halasi , Róbert Kristóf Pórszász , Péter Attila Gergely
{"title":"Importance of the details in person identification","authors":"Beáta Ágnes Borsay ,&nbsp;Barbara Dóra Halasi ,&nbsp;Róbert Kristóf Pórszász ,&nbsp;Péter Attila Gergely","doi":"10.1016/j.legalmed.2023.102385","DOIUrl":"10.1016/j.legalmed.2023.102385","url":null,"abstract":"","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139062017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vehicular homicide or cardiovascular event? The importance of the autopsy findings 车辆凶杀还是心血管事件?尸检结果的重要性
IF 1.5 4区 医学
Legal Medicine Pub Date : 2023-12-26 DOI: 10.1016/j.legalmed.2023.102386
Emanuele Capasso, Roberto Cortese, Gianluca Auriemma, Sabrina Di Biase, Gaetano Di Donna, Massimo Niola
{"title":"Vehicular homicide or cardiovascular event? The importance of the autopsy findings","authors":"Emanuele Capasso,&nbsp;Roberto Cortese,&nbsp;Gianluca Auriemma,&nbsp;Sabrina Di Biase,&nbsp;Gaetano Di Donna,&nbsp;Massimo Niola","doi":"10.1016/j.legalmed.2023.102386","DOIUrl":"10.1016/j.legalmed.2023.102386","url":null,"abstract":"<div><p>We present the case of a 61 years old woman who was hit by a car, resulting in fractures of the pubic bone, left ischium-pubis ramus and right femur, with need of hip replacement surgery. In the next days she was affected by two episodes of acute coronary syndrome, treated with coronary angioplasty surgery. After undergoing total hip replacement surgery an episode of asystole caused her death. A full autopsy showed coronary stenosis and chronic ischemic heart disease associated with a recent myocardial infarction. The pre-existing condition of T.L. could not be ignored but the initial traumatic event and the subsequent fractures played a further co-occurrent causal role. The initial trauma represented the first step of the phenomenological chain that led to a series of adverse cardiological events and to an irreversible asystole, so that the car driver should be partly considered accountable for the death of the woman.</p></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1344622323001967/pdfft?md5=395acfdea7a9a2af61f639c0ac5c817c&pid=1-s2.0-S1344622323001967-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139061580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fatal cardiac dysfunction in a child with Williams syndrome 威廉姆斯综合征患儿致命的心功能障碍
IF 1.5 4区 医学
Legal Medicine Pub Date : 2023-12-26 DOI: 10.1016/j.legalmed.2023.102387
Chihiro Kawai , Hidehito Kondo , Masashi Miyao , Mariko Sunada , Seiichiro Ozawa , Hirokazu Kotani , Hirozo Minami , Hideki Nagai , Hitoshi Abiru , Akira Yamamoto , Keiji Tamaki , Yoko Nishitani
{"title":"Fatal cardiac dysfunction in a child with Williams syndrome","authors":"Chihiro Kawai ,&nbsp;Hidehito Kondo ,&nbsp;Masashi Miyao ,&nbsp;Mariko Sunada ,&nbsp;Seiichiro Ozawa ,&nbsp;Hirokazu Kotani ,&nbsp;Hirozo Minami ,&nbsp;Hideki Nagai ,&nbsp;Hitoshi Abiru ,&nbsp;Akira Yamamoto ,&nbsp;Keiji Tamaki ,&nbsp;Yoko Nishitani","doi":"10.1016/j.legalmed.2023.102387","DOIUrl":"10.1016/j.legalmed.2023.102387","url":null,"abstract":"<div><p>Williams syndrome (WS) is a rare genetic disorder caused by a microdeletion of chromosome 7q11.23. Although the mortality rate of patients with WS is not very high, sudden cardiac death can occur, particularly in cases complicated by coronary artery stenosis. A 3-month-old female infant with supravalvular aortic stenosis and peripheral pulmonary stenosis was discovered unconscious in bed by her mother. She was immediately transferred to an emergency hospital but succumbed despite multiple attempts as resuscitation. DNA microarray analysis revealed microdeletions of 7q11.23 and 16p11.2, confirming WS and unexpectedly identifying 16p11.2 deletion syndrome which is known to be associated with neurodevelopmental disorders. Postmortem computed tomography revealed a severely enlarged heart, indicative of cardiac dysfunction. External examination revealed moderate-to-severe developmental delays in height and body weight. The heart, on internal examination, revealed whitish-discolored lesions; histologically severe fibrotic changes and thickening of the intima in the coronary arteries and aorta. In the brain, the dentate gyrus of the hippocampus appeared malformed. Taken together, these findings suggest that the cause of death was cardiac dysfunction due to WS. In addition, it could be possible that 16p11.2 deletion syndrome and dentate gyrus malformation contributed to her death. Future autopsy studies are warranted to clarify the precise role of microdeletion disorders in sudden death to reduce future preventable deaths in children.</p></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1344622323001979/pdfft?md5=3ab00d33ee284f2386bcf88cc7d20935&pid=1-s2.0-S1344622323001979-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139054944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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