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Pro Memoria: prof. Władysław Nasiłowski (1925-2022)
Q4 Medicine Pub Date : 2022-11-30 DOI: 10.4467/16891716amsik.22.006.16804
R. Skowronek
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引用次数: 0
Pro Memoria: prof. Peter Schneider (1955-2022) 专业记忆:Peter Schneider教授(1955-2022)
Q4 Medicine Pub Date : 2022-11-30 DOI: 10.4467/16891716amsik.22.007.16805
T. Grzybowski, Wojciech Branicki
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引用次数: 0
Krzysztof Borowiak (1959-2022), profesor, kierownik Katedry Medycyny Sądowej oraz Zakładu Toksykologii Klinicznej i Sądowej Pomorskiego Uniwersytetu Medycznego w Szczecinie w latach 2012-2022 Krzysztof Borowiak(1959-2022),教授,2012-2022年什切青波美拉尼亚医科大学法医学系和临床与司法毒理学系主任
Q4 Medicine Pub Date : 2022-09-08 DOI: 10.4467/16891716amsik.22.001.16230
T. Grzybowski, T. Jurek
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引用次数: 0
Sudden death during methadone replacement therapy - case report and literature review. 美沙酮替代治疗中猝死病例报告及文献复习。
Q4 Medicine Pub Date : 2022-01-01 DOI: 10.4467/16891716AMSIK.22.012.16810
Rafał Skowronek, Marek Krzystanek

Methadone is a diphenylpropylamine derivative that binds to opioid receptors and has been used in drug abstinence and substitution treatment programs. The aim of the study is to describe a case of sudden death of a prisoner during methadone substitution therapy from the authors' medico-legal consulting practice and to review the literature. A 41-year-old male with a long history of abuse of psychoactive substances, especially heroin, serving a prison sentence, after consultation in the addiction treatment clinic, started methadone substitution therapy. In the following days he took two doses of the drug (50 mg each). The prisoner was pronounced dead during the night. Blood toxicology tests showed the presence of methadone at the therapeutic concentration of 816 ng/ml. Currently, it is believed that even the therapeutic concentration of methadone increases the risk of sudden cardiac death, especially in predisposed patients (e.g. with structural pathologies of the myocardium, cardiac arrhythmias, hypokalemia, and liver failure).

美沙酮是一种结合阿片受体的二苯基丙胺衍生物,已被用于戒毒和替代治疗方案。本研究的目的是描述一个案例的囚犯猝死在美沙酮替代治疗期间,从作者的医学法律咨询实践,并审查文献。一名41岁男性,长期滥用精神活性物质,特别是海洛因,正在服刑,经成瘾治疗诊所咨询,开始美沙酮替代治疗。在接下来的几天里,他服用了两剂药物(每次50毫克)。犯人在夜间被宣布死亡。血液毒理学试验显示,治疗浓度为816 ng/ml的美沙酮存在。目前,人们认为,即使是治疗浓度的美沙酮也会增加心源性猝死的风险,特别是对易感患者(如心肌结构病变、心律失常、低钾血症和肝功能衰竭)。
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引用次数: 0
Y-STR data of the Yfiler Plus panel in population of north-eastern Poland. 波兰东北部人口Yfiler Plus面板的Y-STR数据。
Q4 Medicine Pub Date : 2022-01-01 DOI: 10.4467/16891716AMSIK.22.022.17622
Agnieszka Gołaszewska, Małgorzata Skawrońska, Anna Niemcunowicz-Janica, Witold Pepiński

Background: The use of new high-resolution and forensic identification capabilities for population studies offered by new multiplex methods (such as Yfiler Plus) is crucial in forensic genetics cases. The development of haplotype frequency databases is essential to take full advantage of the new Y chromosome determination capabilities.

Purpose: Development of the haplotype database of the Yfiler Plus kit for a population-based sample of 534 males from northeastern Poland and calculation of suitability parameters for forensic genetics studies.

Materials and methods: The study was conducted on a population sample of 534 unrelated males from the area of northeastern Poland using the Yfiler Plus panel of 27 markers located on the Y chromosome.

Results: Four haplotypes appeared twice. The Discrimination Capacity (DC) of the entire set was 0.9925. The highest Gene Diversity (GD) value was calculated for DYS518 (0.86) belonging to the fast-mutation markers, while the lowest GD was calculated for DYS392 (0.42).

Conclusion: The results indicate the need for further research and observation of changes, both in different regions of Poland and across Europe.

背景:利用新的多重方法(如Yfiler Plus)为人口研究提供的新的高分辨率和法医鉴定能力在法医遗传学案件中至关重要。单倍型频率数据库的开发是充分利用新的Y染色体测定能力的必要条件。目的:为波兰东北部534名男性人群样本建立Yfiler Plus试剂盒的单倍型数据库,并计算法医遗传学研究的适宜性参数。材料和方法:本研究采用位于Y染色体上的27个标记的Yfiler Plus面板,对来自波兰东北部地区的534名无亲缘关系的男性进行了人口样本研究。结果:4个单倍型出现两次。整个集合的判别能力(DC)为0.9925。快速突变标记DYS518的基因多样性(GD)值最高,为0.86,DYS392的GD值最低,为0.42。结论:结果表明,需要进一步研究和观察波兰不同地区和整个欧洲的变化。
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引用次数: 0
Blunt cardiac rupture due to physical assault: An autopsy-based case series. 钝性心脏破裂由于身体攻击:尸检为基础的案例系列。
Q4 Medicine Pub Date : 2022-01-01 DOI: 10.4467/16891716AMSIK.22.018.17396
Abhaykumar B Dheeraj, Sandeep Kumar Giri Kumar Giri, Swapnil P Akhade, Kavyesh Sahu, Vijay Pal, Nighat Hussain

Background: The literature reports cases of ventricular rupture in blunt chest trauma following motor vehicle accidents. It rarely describes cardiac tamponade due to rupture of the heart following blunt thoracic trauma in a physical assault. There are rare cases where fatal cardiac tamponade results from a ruptured ventricle without externally visible injuries to the chest. It is also rare for the cardiac rupture to occur on the posterior side. In our case series, the first case involved a direct blow to the left side of the chest by a projectile (brick), causing rupture of the left ventricle's base with intact pericardium. In the second case, a direct blow to the left side of the chest led to rupture of the right ventricle's posterior wall.

Case presentation: Here, we report two autopsy-based case series of isolated right and left ventricular rupture with cardiac tamponade in blunt thoracic trauma with a specific history and background information of assault. The first case is a 35-year-old male assaulted with a brick thrown at his chest in a moving bus; he was declared dead on arrival after a one-hour journey. The second case is a 55-year-old male assaulted with double punches in his chest and declared dead on arrival at the hospital after 30 minutes. A medicolegal autopsy and thorough investigation, in both cases, revealed cardiac tamponade due to ventricular rupture with no underlying pathology.

Conclusion: This case series underlines the importance of systematic and complete cardiac examination in all death cases following blunt chest trauma even with minimal or no evidence of a visible injury to the chest. Rarely cardiac rupture is noticed on the posterior surface or apex of the heart. The case series illustrates a rare occurrence of cardiac rupture that requires apt investigation and certification of medicolegal causes of death to determine how the death was caused.

背景:文献报道了机动车事故后钝性胸外伤并发心室破裂的病例。它很少描述心脏填塞由于心脏破裂后钝性胸椎创伤在物理攻击。很少有致命的心包填塞是由心室破裂引起的,而胸部没有明显的外部损伤。心脏破裂发生在后侧也是罕见的。在我们的病例系列中,第一个病例涉及抛射物(砖块)直接击中胸部左侧,导致左心室底部破裂,心包完整。在第二起案件中,胸部左侧受到直接打击导致右心室后壁破裂。病例介绍:在这里,我们报告了两个基于尸体解剖的孤立的左、右心室破裂合并心包填塞的钝性胸外伤病例系列,具有特定的攻击史和背景信息。第一个案例是一名35岁的男性,在一辆行驶的公共汽车上,有人向他的胸部扔了一块砖头;经过一个小时的旅行,他在抵达时被宣布死亡。第二个病例是一名55岁的男性,他的胸部遭到两拳袭击,30分钟后被送往医院时被宣布死亡。法医解剖和彻底的调查,在这两个情况下,发现心脏填塞由于心室破裂没有潜在的病理。结论:本病例系列强调了在所有钝性胸部外伤死亡病例中进行系统和完整的心脏检查的重要性,即使只有很少或没有明显胸部损伤的证据。在心脏后表面或心尖很少发现心脏破裂。该系列病例说明了一种罕见的心脏破裂,需要适当的调查和死亡的法医原因证明,以确定死亡的原因。
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引用次数: 0
An association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry. 颅面发育增强子拷贝数变异与生物地理血统的关系。
Q4 Medicine Pub Date : 2022-01-01 DOI: 10.4467/16891716AMSIK.22.008.16806
Katarzyna Linkowska, Boris A Malyarchuk, Miroslava V Derenko, Tomasz Grzybowski

Human facial morphology is a combination of many complex traits and is determined by a large number of genes and enhancers. Here, we report a Copy Number Variation (CNV) study of enhancer hs1431 in populations of Central European and South Siberian ancestry. Central European samples included 97 Poles, while South Siberian samples included 78 Buryats and 27 Tuvinians. CNVs were detected by real-time PCR, using ViiA™ 7 Real-Time PCR System (Applied Biosystems). We revealed significant differences in CNV of hs1431 enhancer between Polish and Buryat population (p=0.0378), but not between Central European and South Siberian population (p=0.1225). Our results suggest that an increase in copy number variation of hs1431 enhancer is associated with biogeographic ancestry. However, this result needs extending and replicating in larger cohorts. This is the first study revealing the presence of copy number variation of enhancer hs1431 in humans.

人类面部形态是许多复杂特征的组合,由大量的基因和增强子决定。在这里,我们报告了中欧和南西伯利亚祖先人群中增强子hs1431的拷贝数变异(CNV)研究。中欧样本包括97名波兰人,而南西伯利亚样本包括78名布里亚特人和27名图维尼亚人。采用ViiA™7 real-time PCR系统(Applied Biosystems)进行实时PCR检测。我们发现hs1431增强子的CNV在波兰和布里亚特人群之间存在显著差异(p=0.0378),但在中欧和南西伯利亚人群之间没有显著差异(p=0.1225)。结果表明,hs1431增强子拷贝数变异的增加与生物地理血统有关。然而,这一结果需要在更大的队列中扩展和复制。这是首次在人类中发现增强子hs1431拷贝数变异的研究。
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引用次数: 0
Analysis of polymorphic variants in the ADH7 gene in alcohol abusers and addicts. 酒精滥用者和成瘾者ADH7基因多态性变异分析。
Q4 Medicine Pub Date : 2022-01-01 DOI: 10.4467/16891716AMSIK.22.014.17392
Paulina Całka, Marzanna Ciesielka, Grzegorz Teresiński

Background: Environmental and genetic (in approximately 50%) factors are responsible for the development of alcohol abuse and dependence. The main genes responsible for the risk of harmful alcohol consumption are the genes encoding the enzymes of ethanol metabolism in the human body. Ethyl alcohol is oxidized to acetaldehyde by alcohol dehydrogenases found in the liver (ADH1B, ADH1C and ADH4) and stomach (ADH7). Gastric metabolism of ethanol is able to reduce the amount of alcohol reaching the bloodstream by up to 10% of the dose taken. ADH7 gene variations could be associated as the risk of developing alcohol abuse and dependence.

Aim: Analysis of tag SNPs in the ADH7 gene and determination of the relationship between those variants and the risk of developing alcohol abuse and dependence in the Polish population.

Material and methods: Blood samples from 159 autopsies from alcohol abusers and/or addicts and 201 buccal swabs taken from controls. Genotyping was performed using the Real Time PCR method with TaqMan probes on 3 tag SNPs: rs284786, rs1154470 (within the ADH7 gene) and rs7690269 (from the intergenic region). The obtained genotypes were randomly verified by Sanger sequencing.

Results and conclusions: The results of the performed statistical analyses of the obtained genotypes did not confirm the relationship between the above-mentioned variants and a risk of developing problems with alcohol consumption, based on samples from the Polish population.

背景:环境和遗传因素(约占50%)是导致酒精滥用和依赖的原因。导致有害饮酒风险的主要基因是编码人体乙醇代谢酶的基因。乙醇被肝脏(ADH1B, ADH1C和ADH4)和胃(ADH7)中的酒精脱氢酶氧化为乙醛。胃对乙醇的代谢能够将到达血液的酒精量减少10%。ADH7基因变异可能与酒精滥用和依赖的风险有关。目的:分析波兰人群中ADH7基因的标签snp,并确定这些变异与酒精滥用和依赖风险之间的关系。材料和方法:159例酒精滥用者和/或成瘾者尸体解剖的血液样本和对照组201例口腔拭子样本。采用Real Time PCR方法,用TaqMan探针对3个标签snp进行基因分型:rs284786、rs1154470(位于ADH7基因内)和rs7690269(来自基因间区)。得到的基因型随机进行Sanger测序验证。结果和结论:对获得的基因型进行统计分析的结果,根据波兰人口的样本,没有证实上述变异与出现饮酒问题的风险之间的关系。
{"title":"Analysis of polymorphic variants in the ADH7 gene in alcohol abusers and addicts.","authors":"Paulina Całka,&nbsp;Marzanna Ciesielka,&nbsp;Grzegorz Teresiński","doi":"10.4467/16891716AMSIK.22.014.17392","DOIUrl":"https://doi.org/10.4467/16891716AMSIK.22.014.17392","url":null,"abstract":"<p><strong>Background: </strong>Environmental and genetic (in approximately 50%) factors are responsible for the development of alcohol abuse and dependence. The main genes responsible for the risk of harmful alcohol consumption are the genes encoding the enzymes of ethanol metabolism in the human body. Ethyl alcohol is oxidized to acetaldehyde by alcohol dehydrogenases found in the liver (ADH1B, ADH1C and ADH4) and stomach (ADH7). Gastric metabolism of ethanol is able to reduce the amount of alcohol reaching the bloodstream by up to 10% of the dose taken. ADH7 gene variations could be associated as the risk of developing alcohol abuse and dependence.</p><p><strong>Aim: </strong>Analysis of tag SNPs in the ADH7 gene and determination of the relationship between those variants and the risk of developing alcohol abuse and dependence in the Polish population.</p><p><strong>Material and methods: </strong>Blood samples from 159 autopsies from alcohol abusers and/or addicts and 201 buccal swabs taken from controls. Genotyping was performed using the Real Time PCR method with TaqMan probes on 3 tag SNPs: rs284786, rs1154470 (within the ADH7 gene) and rs7690269 (from the intergenic region). The obtained genotypes were randomly verified by Sanger sequencing.</p><p><strong>Results and conclusions: </strong>The results of the performed statistical analyses of the obtained genotypes did not confirm the relationship between the above-mentioned variants and a risk of developing problems with alcohol consumption, based on samples from the Polish population.</p>","PeriodicalId":35709,"journal":{"name":"Archiwum Medycyny Sadowej i Kryminologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9737650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The overview of forensic genetic genealogy. 法医遗传谱系概述。
Q4 Medicine Pub Date : 2022-01-01 DOI: 10.4467/16891716AMSIK.22.023.17623
Urszula Rogalla-Ładniak

Forensic genetic genealogy (FGG) benefits largely from popularity of genealogical research within (mostly) American society and the advent of new sequencing techniques that allow typing of challenging forensic samples. It is considered a true breakthrough for both active and especially cold cases where all other resources and methods have failed during investigation. Despite media coverage generally highlighting its powers, the method itself is considered very laborious and the investigation may easily got suspended at every stage due to many factors including no hits in the database or breaks in traceable lineages within the family tree. This review summarizes the scope of FGG use, mentions most concerns and misconceptions associated with the technique and points to the plausible solutions already suggested. It also brings together current guidelines and regulations intended to be followed by law enforcement authorities wishing to utilize genetic genealogy research.

法医遗传谱系学(FGG)主要受益于美国社会中家谱研究的普及和新的测序技术的出现,这些技术允许对具有挑战性的法医样本进行分类。对于在调查过程中所有其他资源和方法都失败的活跃案件,特别是悬案,这被认为是一个真正的突破。尽管媒体报道普遍强调了它的力量,但这种方法本身被认为是非常费力的,而且由于许多因素,包括数据库中没有匹配或家谱中可追溯血统的中断,调查可能很容易在每个阶段暂停。这篇综述总结了FGG的使用范围,提到了与该技术相关的大多数问题和误解,并指出了已经提出的合理解决方案。它还汇集了希望利用遗传谱系研究的执法当局应遵循的现行指导方针和法规。
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引用次数: 0
The age profile of court-appointed physicians in Poland. Status at the end of 2021. 波兰法院指定医生的年龄概况。2021年底的状态。
Q4 Medicine Pub Date : 2022-01-01 DOI: 10.4467/16891716AMSIK.22.021.17621
Anna Smędra, Jarosław Berent

The problems with obtaining expert opinions from court-appointed physicians in Poland have been known for a long time and are well-diagnosed. The reasons for this state of affairs are: an overall insufficient number of physicians compared to the general needs, uncompetitive remuneration levels, and the difficulty of reconciling professional and court-appointed expert duties, while taking into consideration the availability expected of experts. The ongoing generational transition may further exacerbate these problems. The purpose of this study was to investigate the latter phenomenon by comparing the age profile of court-appointed physicians with that of physicians in general. Information on the age of court-appointed physicians was obtained from the presidents of regional courts and the Central Register of Physicians, while general statistics on physicians were also acquired from the latter. Research allowed us to formulate the following conclusions: only 0.8% of all physicians in Poland serve a court-appointed expert function. Almost two-thirds of court-appointed physicians belong to the Baby Boomer generation (born in 1946-1964), nearly one-third to Generation X (1965-1980), and only one-sixteenth (6.10%) to Generation Y (1981-1996), or Millennials. The results obtained, as well as data from the literature, suggest that the current bad state of affairs regarding access to the opinions of court-appointed physicians will further deteriorate in the coming years due to generational changes, i.e., the replacement of Baby Boomers and Generation X, currently dominant among court-appointed experts, by Generation Y, i.e., Millennials, with a different attitude to life.

在波兰,从法院指定的医生那里获得专家意见的问题早已为人所知,并且得到了很好的诊断。造成这种状况的原因是:与一般需要相比,医生总数不足,薪酬水平缺乏竞争力,在考虑到专家的可用性的情况下,难以协调专业和法院指定的专家职责。正在进行的代际过渡可能会进一步加剧这些问题。本研究的目的是通过比较法院指定的医生与一般医生的年龄特征来调查后一种现象。关于法院指定的医生年龄的资料是从区域法院院长和中央医生登记处获得的,而关于医生的一般统计资料也从后者获得。研究让我们得出以下结论:在波兰,只有0.8%的医生担任法院指定的专家职能。近三分之二的法院指定医生属于婴儿潮一代(1946-1964年出生),近三分之一是X一代(1965-1980年),只有十六分之一(6.10%)是Y一代(1981-1996年),或千禧一代。所获得的结果以及文献中的数据表明,由于代际变化,即目前在法院指定专家中占主导地位的婴儿潮一代和X一代被生活态度不同的Y一代即千禧一代所取代,目前获得法院指定医生意见的不良状况将在未来几年进一步恶化。
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引用次数: 0
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Archiwum Medycyny Sadowej i Kryminologii
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