This paper presents the results of genetic testing in two cases of shared paternity between half-siblings. In the first example, the research was based on the analysis of half-siblings and their mothers with respect to 2...This paper presents the results of genetic testing in two cases of shared paternity between half-siblings. In the first example, the research was based on the analysis of half-siblings and their mothers with respect to 21 autosomal markers. In the second, the research was based on both the analysis of 30 autosomal markers and X chromosome markers in putative sisters and the mother of one of them. Selected examples are presented to illustrate how the use of different research strategies affects the outcome of the likelihood ratio and the ability to make inferences in complex kinship cases.
AIM: The aim of the work is to provide an overview of the potential application of artificial intelligence in forensic medicine and related sciences, and to identify concerns related to providing medico-legal opinions an...AIM: The aim of the work is to provide an overview of the potential application of artificial intelligence in forensic medicine and related sciences, and to identify concerns related to providing medico-legal opinions and legal liability in cases in which possible harm in terms of diagnosis and/or treatment is likely to occur when using an advanced system of computer-based information processing and analysis. MATERIAL AND METHODS: The material for the study comprised scientific literature related to the issue of artificial intelligence in forensic medicine and related sciences. For this purpose, Google Scholar, PubMed and ScienceDirect databases were searched. To identify useful articles, such terms as "artificial intelligence," "deep learning," "machine learning," "forensic medicine," "legal medicine," "forensic pathology" and "medicine" were used. In some cases, articles were identified based on the semantic proximity of the introduced terms. CONCLUSIONS: Dynamic development of the computing power and the ability of artificial intelligence to analyze vast data volumes made it possible to transfer artificial intelligence methods to forensic medicine and related sciences. Artificial intelligence has numerous applications in forensic medicine and related sciences and can be helpful in thanatology, forensic traumatology, post-mortem identification examinations, as well as post-mortem microscopic and toxicological diagnostics. Analyzing the legal and medico-legal aspects, artificial intelligence in medicine should be treated as an auxiliary tool, whereas the final diagnostic and therapeutic decisions and the extent to which they are implemented should be the responsibility of humans.
AIMS: The aim of this study is to provide a retrospective assessment of the possibility of determining the severity of atherosclerosis based on postmortem computed tomography (PMCT), autopsy protocols and histopathologic...AIMS: The aim of this study is to provide a retrospective assessment of the possibility of determining the severity of atherosclerosis based on postmortem computed tomography (PMCT), autopsy protocols and histopathological examination results. In the first stage of the study, 200 cases were evaluated of persons over 40 years of age in whom postmortem computed tomography and autopsy were performed. In the second stage, the cases were divided into a study group (cardiovascular deaths) and a control group, as well as divided by age and, in addition to autopsy protocols and PMCT results, histopathological findings were evaluated. RESULTS: The results of stage I demonstrated that the best detection of atherosclerosis was in the advanced stage with a predominance of detection in PMCT. Atherosclerosis detection in autopsy was highest in the coronary arteries, aorta and cerebral arteries; while in PMCT it remained equal in all evaluated locations. Autopsy showed higher detection of advanced atherosclerotic lesions in the coronary arteries and aorta compared to PMCT. The results of stage II of the study revealed that attaching the results of the general histopathological examination to the retrospective evaluation does not provide an opportunity to increase the accuracy of the evaluation of atherosclerotic lesions. The results obtained indicate the need for prospective studies. CONCLUSIONS: Autopsy allows macroscopic evaluation of a very broad spectrum of atherosclerotic lesions, but often without precise determination of their nature, and with limited localization; PMCT allows accurate and reproducible evaluation of calcified atherosclerotic lesions in large and medium-sized vessels, but is unsuitable for the evaluation of non-calcified lesions and small vessels; targeted histopathological examinations allow very accurate, but local assessment of atherosclerotic lesions.
INTRODUCTION: The development of pneumatic shooting has led to the construction of technologically advanced devices with discharge energies similar to those of firearms. The pneumatic weapons ammunition market offers a v...INTRODUCTION: The development of pneumatic shooting has led to the construction of technologically advanced devices with discharge energies similar to those of firearms. The pneumatic weapons ammunition market offers a variety of shot which varies in penetration properties and the extent of gunshot damage. In view of the ease of "tuning" of air rifles, a study was conducted of the inlet damage to the anterior femoral surface after pneumatic gunshots. The paper shows the differences in damage parameters depending on the type of shot. MATERIAL AND METHODS: In the study, Air Arms Hi-Power Xtra FAC cal. 5.5 mm and FX Bobcat Mk II cal. 6.35 mm pneumatic carbines were used and lead shot by Haendler&Natterman's Spitzkugel type, Hollow Point and Baracuda cal. 5.5 mm and 6.35 mm, as well as lead-free shot Excite Apollo cal. 5.5 mm and Black Max Lead-Free cal. 6.35 mm. Measurements were taken of the extent of inlet damage to the anterior surface of the femoral shaft with X-ray and CT imaging. RESULTS: HollowPoint shot caused the greatest range of gunshot penetration damage in both bone and periosteum, Apollo lead-free shot caused the least. At the same time, HollowPoint shot showed the greatest susceptibility to ricocheting. CONCLUSIONS: 1. The type of shot used influences diversified morphology of the holes and the nature of gunshot damage to the femoral shaft. The differences concern both the gunshot holes and the nature, course and extent of associated fractures. 2. The smallest inlet holes and damage to the periosteum with a regular shape are caused by gunshots with pointed and pointed tip pellets. The greatest extent of bone and periosteum inlet damage was observed in gunshots with Hollow Point type shot due to its predisposition to deformation and fragmentation. 3. Radio-imaging studies are a valuable complement to macroscopic visual assessment providing a useful value for identifying the type of shot used.
INTRODUCTION: In accordance with the Polish law, pneumatic weapons are weapons that use compressed gas to set a bullet in motion and generate a discharge energy of more than 17J. In recent years, Poland has seen an incre...INTRODUCTION: In accordance with the Polish law, pneumatic weapons are weapons that use compressed gas to set a bullet in motion and generate a discharge energy of more than 17J. In recent years, Poland has seen an increase in crimes committed with pneumatic weapons. The research aim of the present study was to measure the velocity of selected 5.5 mm and 6.35 mm caliber shot and to create a model of a human thigh using a pig femur. MATERIAL AND METHODS: This study used Air Arms Hi-Power Xtra FAC cal. 5.5 mm and FX Bobcat Mk II cal. 6.35 mm carbines and Haendler& Natterman's Spitzkugel, Hollow Point and Baracuda cal. 5.5 mm and 6.35 mm lead shot and Excite Apollo cal. 5.5 mm and Black Max Lead-Free cal. 6.35 mm lead-free shot. The velocity of the shot at a distance of 10 m was measured and its kinetic energy was calculated; pig femurs were measured and CT imaging was performed. RESULTS: The 5.5mm caliber shot reached velocities between 253 m/s and 278 m/s, obtaining energies between 27J and 44J. The 6.35 mm cal. shot reached velocities between 242 m/s and 254 m/s and energies between 52J and 59J. Pig femurs had an average weight of 410 g, a length of 239 mm, and a shaft diameter at mid-length of 30.6mm. The thickness of pig femur shaft walls was variable. A ballistic model of the human thigh was created using gelatin available in Poland. CONCLUSIONS: 1. The number of registered crimes with pneumatic weapons and the wide access to pneumatic devices with the possibility of design modifications justify the initiation of experimental studies on the assessment of gunshot injuries from pneumatic weapons. 2. The parameters of the shaft of a pig femur obtained from pigs weighing about 115 kg are similar to those of a human adult femur, which makes it possible to create a human thigh model. 3. Of the 5.5 mm cal. shot, the highest impact energies were generated by barracuda type shot, and of the 6.35 mm cal. shot, it was barracuda type and lead-free shot. 4. The thickness of the bony layer of the pig femur shaft is heterogeneous; the posterior wall of the shaft is the thickest, the lateral wall is the thinnest; however, it shows the greatest individual variability.
The need for medical assessment of murder victims and the establishment of rules for this assessment became the driving force behind the creation of forensic medicine, while the non-medical area of crime assessment, incl...The need for medical assessment of murder victims and the establishment of rules for this assessment became the driving force behind the creation of forensic medicine, while the non-medical area of crime assessment, including crime scene examination, became the driving force behind the creation and development of criminalistics. Polish forensic medicine has been developing for over 200 years, and the Kraków Chair of Forensic Medicine is the oldest unit of this type. It is therefore not surprising that the archive which collects protocols of expert and scientific research is quite extensive. This material is a valuable foundation for scientific work including not only numerous publications in national and international journals, but also books. The author of the work selected several books on medical and forensic topics that appeared in recent decades on the Polish publishing market, indicating the value and importance of archival material in the literature of this area of science.
The aim of the study was to determine the components of measurement uncertainty in the concentration of alcohol in exhaled breath and to determine the state of sobriety at the time of incident. Based on the literature re...The aim of the study was to determine the components of measurement uncertainty in the concentration of alcohol in exhaled breath and to determine the state of sobriety at the time of incident. Based on the literature review and the authors' experience in providing opinions for law enforcement and the judiciary, the influence of various factors on the final interpretation of sobriety state is described on the basis of measurement uncertainty of breath analyzers, uncertainty of retrospective and prospective calculations, and uncertainty related to the conversion of alcohol concentrations detected during breath and blood tests. The paper pays particular attention to interpreting the concentrations of ethanol in exhaled breath close to the legal limits of the state of sobriety and the state after alcohol use, or the state after alcohol use and the state of insobriety. Analyzing the results of an exhaled breath test concerning concentrations close to the values of 0.1 mg/dm3 and 0.25 mg/dm3, it is necessary to take into account the factors affecting the measurements obtained, including the measurement uncertainty of the determination of alcohol in exhaled breath, the processes of absorption, distribution and metabolism of ethyl alcohol, and the possibility of the presence of alcohol lingering in the oral cavity. The incorrect execution of measurements of the tested person's alcohol concentration is also a problematic issue. When determining sobriety state by means of retrospective and prospective calculations, it is important to remember that the uncertainty of the result is affected by a number of factors and depends, among other things, on the information provided by the suspect. Hence, the expert should draw conclusions particularly cautiously and any overestimation or underestimation of the components of uncertainty can lead to erroneous conclusions. Awareness of the uncertainties inherent in the results of a sobriety test or alcohol calculation allows for meaningful interpretation of test results and determination of the sobriety state of the person tested.
The purpose of this paper is to formulate recommendations for the disclosure of biological traces in the laboratory and the handling of forensic evidence submitted for identification tests, recommended by the Polish Spea...The purpose of this paper is to formulate recommendations for the disclosure of biological traces in the laboratory and the handling of forensic evidence submitted for identification tests, recommended by the Polish Speaking Working Group of the International Society for Forensic Genetics. The paper organizes the knowledge of the most relevant stages of preliminary analysis of biological traces based on both literature sources and those resulting from years of research practice. Recommendations formulated in the course of multi-stage expert consultations contained in this study should be used in the development of laboratory procedures applied during the execution. * The research is part of doctoral dissertation of Dagmara Lisman entitled "Genetic analysis of a skeleton site revealed during the works on the premises of the former German Forced Labor Camp Treblinka I."
Despite a clear global downward trend, homicides still account for a relatively high proportion of all violent deaths, making them a serious problem both in Poland and worldwide. The discrepancy in available data prompte...Despite a clear global downward trend, homicides still account for a relatively high proportion of all violent deaths, making them a serious problem both in Poland and worldwide. The discrepancy in available data prompted the authors of the study to analyse the numbers and rates of homicides and the characteristics of the homicide victims in the Tri-City area of northern Poland. The study was based on data from autopsy reports, supplemented by information from prosecutor's files on all homicides in the Tri-City area between 2010 and 2019. A total of 107 homicides were statistically analysed for age, sex, blood alcohol concentration at the time of death, time and place of death. The annual homicide rate was 1.24 per 100,000 inhabitants, with a clear downward trend over the period analysed. The average age of victims was about 48 years, and the majority of victims were male (70.1%). 92.5% of homicides were committed in the Tri-City, with a clear predominance of Gdansk (49.5%) over other, mostly rural, areas of the analysed agglomeration. The majority of victims (57.8%) whose blood alcohol concentration was measured were intoxicated, with a clear predominance of males in this group (70.9%). Victim characteristics and the homicide rates obtained from the analysed material were similar to other countries in Central and Eastern Europe, which may be related to historical, cultural, and demographic similarities. The study highlights the significant impact of alcohol abuse on the risk of homicide.
Toilet cleaner containing hydrochloric acid is a common item found in households all over the world. Due to the availability of the substance, it becomes one of the main contributors to corrosive damage to the gastrointe...Toilet cleaner containing hydrochloric acid is a common item found in households all over the world. Due to the availability of the substance, it becomes one of the main contributors to corrosive damage to the gastrointestinal system. This study reports a case of a female in her 50s with an alleged history of ingestion of toilet cleaner an empty bottle of which was found together with a suicide note at the incident site. During the autopsy, the forensic expert made an intriguing observation regarding the dispersion of ingested acid to other organs without gastric perforation. Despite the absence of gastric perforation, the corrosive effects of the ingested acid were evident in various organs, including the liver and spleen. This phenomenon suggests a unique mechanism by which the acid is able to disperse and cause damage beyond the stomach, leading to widespread organ involvement. However, through a comprehensive analysis of the detailed history, typical macroscopic autopsy findings, and chemical analysis reports, it is possible to establish that the cause of death is corrosive acid poisoning. In such cases, further investigation is warranted to gain a better understanding of the underlying mechanisms responsible for the dispersion of the acid and its clinical implications. By delving deeper into these aspects, we can enhance our knowledge and contribute to the field of forensic medicine.
The study presents the results of research aimed at isolating the graphic features most frequently and least frequently modified by people committing autoforgery (self-forgery) of signatures in situations where the appea...The study presents the results of research aimed at isolating the graphic features most frequently and least frequently modified by people committing autoforgery (self-forgery) of signatures in situations where the appearance of their natural signatures is not known to the recipient. The research covered a total of over 12,000 signatures from 200 individuals. The most successful attempts at autoforgery of legible and illegible signatures of each test subject were selected for the final evaluation. It was found that autoforgery changes are most often focused on the most striking features of the signatures, such as the structure of letters in the initial part of the signature, size, readability, impulse, and slope. Secondary features, more difficult to notice or those whose existence the writers are not aware of (such as the presence or absence of additions, the arrangement of letters in relation to each other, the shape and direction of signature lines, the format of legible signatures) are usually omitted in autoforgery activities. Detecting autoforgery can be a big challenge for experts, because in practice, any significant differences between the questioned signature and comparative signatures are often mistakenly considered to be the result of forgery. Therefore, in order to detect autoforgery, it is necessary to analyze the structure of easily noticeable features that most influence the so-called pictorial effect of the signature in combination with the unattractive features that remain unchanged in most cases of autoforgery. The more characteristic the latter are, the more their consistency in the questioned and comparative material proves self-forgery, regardless of the differences in the primary features. In the case of a forged signature, the opposite is true: the most easily noticeable features of the signature are imitated by the forger, and the differences occur mainly in secondary features.
AIM: AAnalysis of the choice of suicide method by gender and age of the deceased. MATERIAL AND METHODS: The study presented here was based on a retrospective analysis of autopsy reports from the years 2001-2010 in the De...AIM: AAnalysis of the choice of suicide method by gender and age of the deceased. MATERIAL AND METHODS: The study presented here was based on a retrospective analysis of autopsy reports from the years 2001-2010 in the Department of Forensic Medicine of the Jagiellonian University Collegium Medicum in Kraków. The basis of the research work conducted was the collection and extensive analysis of cases of suicide deaths. Subsequently, a preference analysis of the choice of suicide method was conducted, taking into account the age and gender of the deceased. The statistical analysis performed used logistic regression in Excel's XLSTAT as an analysis tool. RESULTS: A total of 2,073 suicide cases were collected from the time frame under discussion. The predominant method of suicide was hanging (1524 cases, 1329 men and 195 women), the second most common method was jumping from the roof or window of a high floor of a building (jumping from heights; 171 cases, 100 men, 71 women). A statistically significant correlation of suicide method with gender was found for: hanging [odds ratio (OR) male (M) vs. female (F) = 3. 4; confidence interval (CI) = 2.7-4.3; p0.001]; drowning [OR: M/F =4.1; CI = 2.6-6.4; p0.001]; jumping from heights [OR: M/F=4.1; CI=2.9-5.7; p0.001] and poisoning [OR: M/F=3.2; CI = 2.1-4.9]. Suicide with the use of firearms occurred exclusively in the case of men (40 cases). The age of the victims correlated with the method of committing suicide by jumping from heights [0R=0.98; CI=0.97-0.99; p0.001] and rail suicide [OR=0.98; CI=0.96-0.99; p0.001]. CONCLUSIONS: The study revealed that both age and gender have a significant impact on the choice of suicide method. According to available epidemiological data and the authors' predictions, a predominance of male over female sex was observed in the case of hanging, while jumping from heights was relatively more often chosen by women. The elderly were less likely to choose jumping from heights and rail suicide.
AIM: Analysis of self-immolation cases and distribution of the resulting burns and their degree. MATERIAL AND METHODS: The study included 16 cases from the Department of Forensic Medicine, Jagiellonian University Medical...AIM: Analysis of self-immolation cases and distribution of the resulting burns and their degree. MATERIAL AND METHODS: The study included 16 cases from the Department of Forensic Medicine, Jagiellonian University Medical College in Cracow from 2000-2022 in which the cause of death was self-immolation. Based on the analysis of photographs and autopsy reports, drawings were made showing the exact distribution and nature of the injuries, moreover, the approximate percentage of body surface area affected was determined as well as the frequency of involvement of specific areas of the body, and the presence of previous diseases and mental disorders including previous suicide attempts. RESULTS: 81% of victims were male. Two age groups were predominant among the cases analyzed, namely, individuals around the age of 20, and those between 50 and 60 years of age. 44% of the deceased had burns exceeding 80% of total body surface. The most frequently involved body areas were the extremities and chest as well as head and neck. Fourth-degree burns were most prevalent on the head and neck, third-degree burns prevailed on the upper and lower extremities, second-degree burns were mostly found on the chest, and first-degree burns - on the lower extremities. There were no cases of fourth-degree burns of the buttocks. 38% of the subjects had a history of substance abuse, 56% suffered from mental illnesses, whereas 31% attempted suicide in the past. CONCLUSIONS: The distribution of burns in self-immolation cases is inhomogeneous. The most frequently affected area was the head, neck, chest and extremities, most likely due to victims dousing themselves with a flammable substance from the top of the head through the chest. In all cases, the immediate cause of death was burn disease, regardless of the size of the body surface area affected by the burns. The majority of victims had a history of mental illness, substance abuse or suicide attempts.
Pawłowski R, Branicki W, Kupiec T
… +8 more, Grzybowski T, Parys-Proszek A, Abreu-Głowacka M, Droździok K, Ciesielka M, Woźniak M, Ossowski A, Jacewicz R
The purpose of this paper is to formulate recommendations for the disclosure of biological traces in the laboratory and the handling of forensic evidence submitted for identification tests, recommended by the Polish Spea...The purpose of this paper is to formulate recommendations for the disclosure of biological traces in the laboratory and the handling of forensic evidence submitted for identification tests, recommended by the Polish Speaking Working Group of the International Society for Forensic Genetics. The paper organizes the knowledge of the most relevant stages of preliminary analysis of biological traces based on both literature sources and those resulting from years of research practice. Recommendations formulated in the course of multi-stage expert consultations contained in this study should be used in the development of laboratory procedures applied during the execution.
The most common complications of percutaneous coronary interventions and other endovascular procedures include minor hemorrhage, hematoma, or infection at the insertion site [1]. Much more serious ones include damage to...The most common complications of percutaneous coronary interventions and other endovascular procedures include minor hemorrhage, hematoma, or infection at the insertion site [1]. Much more serious ones include damage to the vessel wall, dissection, shock from contrast administration, acute kidney injury, myocardial infarction [2] and ischemic stroke [3]. Ischemic complications can be caused by an embolic incident due to a thrombus formation or detachment of atherosclerotic plaque fragments [3]. A rarely diagnosed complication is ischemia caused by microembolisms from the material covering the equipment inserted into the vessel - hydrophilic polymer coating (HPC)[4]. We present an interesting case of HPC revealed in coronary vessels within myocardial preparations taken in forensic post-mortem examination conducted at the Department of Forensic Medicine in Bydgoszcz (L.dz. 676/19). This article raises the issue of clinical implications and forensic aspects.
AIM: The aim of this study is to develop a methodology for creating 3D images of crime scenes based on footage from cameras used by emergency services. To accomplish this, a research experiment was conducted, which consi...AIM: The aim of this study is to develop a methodology for creating 3D images of crime scenes based on footage from cameras used by emergency services. To accomplish this, a research experiment was conducted, which consisted of re-enactment of a crime scene and simulation of the actions of the emergency team. The experiment did not illustrate a real case. The scenario was developed and dedicated for the purpose of the research. MATERIAL AND METHODS: The research material of this study consists of footage recorded in digital video format. The footage shows the course of a re-enacted intervention of emergency services at the crime scene. The re-enactment, which was a research experiment, was arranged under conditions close to real ones. The 3D model of the scene was created in three stages: video analysis and 3D reconstruction of the spatial position of the camera; 3D modelling of the figure of the participant with reconstruction of the position similar to the one in the recording; and 3D scanning of the scene of the simulated crime, assembly of individual elements, and scaling to real dimensions. RESULTS: The result (a 3D model) was presented in the form of a set of images: horizontal projections, vertical sections, and isometric and perspective views of the model. Technical data of the research equipment as well as other relevant information was presented in tables and diagrams. CONCLUSIONS: This study demonstrated that graphic data obtained unintentionally and through alternative recording sources may significantly complement the data collected in the course of routine medico-legal and forensic activities. The use of cameras during the actions of rescue and emergency services allows us to obtain information of significant importance for medico-legal and forensic analyses. The footage from cameras of emergency services makes it possible to obtain a 3D image of the crime scene for further medico-legal and forensic analyses.
Post-mortem computer tomography (PMCT) is an imaging technique that is gaining popularity both worldwide and in Poland. It provides certain benefits in death investigation that a conventional autopsy is not able to, howe...Post-mortem computer tomography (PMCT) is an imaging technique that is gaining popularity both worldwide and in Poland. It provides certain benefits in death investigation that a conventional autopsy is not able to, however, it has significant limitations. As PMCT and post-mortem computed angiography (PMCTA) continue to develop in this country, it is critical to become aware what people know and think about these imaging techniques, especially the prosecutors who officially order such examinations to be performed. In 2019, two concurrent surveys were administered to Polish prosecutors and general Polish population, respectively, regarding their current knowledge and opinions on PMCT. The results were collected both online and on paper, and then subjected to analysis. In total, 92 prosecutors and 227 non-prosecutors responded to the survey. The present authors observed that while prosecutors were more likely to have heard of this examination than the general public, their knowledge was often inadequate or incorrect. Conventional autopsy was still held as the gold standard in death investigation. However, a good popular sentiment towards PMCT was shown, and a desire to learn more about it - not just among prosecutors, but among the general public as well. The present authors' recommendation is that more courses and training should be organised for Polish prosecutors to compensate this knowledge gap.
In paternity cases, genetic tests are of great importance as they allow to exclude or confirm paternity. As a result of paternity tests we can also obtain information on the frequency of short tandem repeat mutations, wh...In paternity cases, genetic tests are of great importance as they allow to exclude or confirm paternity. As a result of paternity tests we can also obtain information on the frequency of short tandem repeat mutations, which are important in the statistical analysis of test results. A total of 468 cases of full paternity trios (mother, child and alleged father) were analysed from years 2018 - 2022 from the central part of Poland. For further analysis of the occurrence of the mutation 346 cases in which paternity was confirmed were qualified. DNA analysis was performed using the PowerPlex®Fusion 6C kit (Promega, USA). 36 mutations were observed in 13 of the 23 genetic markers analysed. 94.44% were one-step mutations and 5.56% were two-step mutations. Among those mutations, there were 18 insertions and 10 deletions, while in 8 cases it was not possible to determine whether an insertion or deletion occurred. There was also a significantly higher share of the father mutation in relation to the mother mutation at a ratio of 4.17:1.
INTRODUCTION: Massively parallel sequencing of mitogenomes usually requires prior amplification. The PCR step may influence the quality of the data obtained, especially when low-level heteroplasmy detection is applied. A...INTRODUCTION: Massively parallel sequencing of mitogenomes usually requires prior amplification. The PCR step may influence the quality of the data obtained, especially when low-level heteroplasmy detection is applied. AIM: The aim of this study was to compare the reliability of two different DNA polymerases in detecting homoplasmic and heteroplasmic substitutions in human mitogenomes. MATERIAL AND METHODS: Mitogenomes of five samples were amplified with Long PCR Enzyme Mix from Fermentas or TaKaRa LA Taq DNA Polymerase from TaKaRa. Then, NexteraTM XT DNA libraries were sequenced on MiSeq FGx platform (Illumina). mtDNA substitutions were called for alternative variants above the 1% level. RESULTS: All homoplasmic substitutions detected in amplicons generated with polymerases studied here and sequenced on MiSeq FGx system were consistently identified as homoplasmies with alternative sequencing methods. TaKaRa LA Taq DNA Polymerase was found to be less accurate in low-level heteroplasmy detection than Long PCR Enzyme Mix enzyme as more false negative and false positive results were observed for minority variants called above the 1% level. Nevertheless, both PCR systems studied can be successfully used to detect authentic mtDNA substitutions, for which minority variants exceed the 3.61% level assuming at least 10,000x coverage and sequencing Nextera XT DNA libraries on MiSeq FGx machine. CONCLUSIONS: The accuracy and sensitivity of point heteroplasmy detection with the MiSeq FGx instrument varies on polymerase used for mtDNA amplification. Therefore, it is recommended to validate the laboratory protocols used for mtDNA substitution detection prior to their implementation for the forensic or medical genetics purposes.
In cranial autopsies, the post-mortem examination requires the use of a saw for the removal of the skull cap. In these procedures, sawing of bone becomes a critical source of infectious aerosols which spread instantaneou...In cranial autopsies, the post-mortem examination requires the use of a saw for the removal of the skull cap. In these procedures, sawing of bone becomes a critical source of infectious aerosols which spread instantaneously in the immediate environment, generating liquid aerosols including droplets of cerebrospinal fluid and blood, and leading to exposure of all autopsy personnel. In high-risk cases like prion disease, tuberculosis, severe acute respiratory syndrome (SARS), COVID-19, etc. where the skull would require sawing, the prime concern is the saw operator's exposure to these pathogens. Therefore, the author suggests the use of an ingenious ergonomic semi-circular craniotomy box during skull cap and brain removal in the autopsy procedure to successfully prevent the contamination of the entire autopsy hall. A transparent acrylic plastic box has been customized, which is semi-circular in shape having three walls, one semi-circular dome without a floor, a front wall with adjustable zipper closure, and a hind wall with circular holes with sleeves made of 5-layer fabrics. The dome contains one outlet for a vacuum suction pipe on the side, two holes on each side of the dome with non-woven fabric arms for the saw operator, and assistants' arms for performing skull opening procedures. The use of this box allowed the author to prevent and limit the spread of the generation of infectious aerosols in the autopsy hall as the bone dust collected in the vacuum ensures the safety of autopsy surgeons.