Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.

Sudden cardiac death (SCD) might have an inherited cardiac condition background. Genetic testing supports post-mortem diagnosis and screening of relatives at risk. Our aim is to determine the feasibility of a Czech national collaboration group and to establish the clinical importance of molecular autopsy and family screening. From 2016 to 2021, we have evaluated 100 unrelated SCD cases (71.0% males, age: 33.3 (12.8) years). Genetic testing was performed by next-generation sequencing utilizing a panel of 100 genes related to inherited cardiac/aortic conditions and/or whole exome sequencing. According to autopsy, cases were divided into cardiomyopathies, sudden arrhythmic death syndrome, sudden unexplained death syndrome, and sudden aortic death. We identified pathogenic/likely pathogenic variants following ACMG/AMP recommendations in 22/100 (22.0%) of cases. Since poor DNA quality, we have performed indirect DNA testing in affected relatives or in healthy parents reaching a diagnostic genetic yield of 11/24 (45.8%) and 1/10 (10.0%), respectively. Cardiological and genetic screening disclose 83/301 (27.6%) relatives at risk of SCD. Genetic testing in affected relatives as starting material leads to a high diagnostic yield offering a valuable alternative when suitable material is not available. This is the first multidisciplinary/multicenter molecular autopsy study in the Czech Republic which supports the establishment of this type of diagnostic tests. A central coordinator and proper communication among centers are crucial for the success of a collaboration at a national level.

Standard autopsy and diagnostic procedure in forensic departments in cases of sudden cardiac death (SCD) in individuals under 40 years of age.

Sudden cardiac death (SCD) in individuals younger than 40 years has a heritable cause in a significant part of the cases. Identification of SCD, post mortem genetic analysis, and the cardiological screening examination in victim´s relatives represent an important diagnostic tool for the primary prevention of cardiac arrest. Based on global and European recommendations, cases of sudden cardiac death in individuals under the age of 40 with negative or ambiguous autopsy findings, or findings suspicious for hereditary cardiovascular disease, should be investigated using molecular genetic methods. Based on European guidelines, the Czech Society of Forensic Medicine and Forensic Toxicology has developed its own recommended procedure, which summarizes the identification of these cases, the optimal autopsy procedure, including the collection of material, and a summary of other necessary actions for performing a post mortem genetic examination in a person who has died suddenly. Complex examination of these cases requires multicentric and multidisciplinary collaboration.

Reversed configuration of the muzzle imprint mark in a pistol contact entrance wound mimicking a non-suicidal act.

The muzzle imprint mark characteristically associated with contact or near contact entrance gunshot wounds exemplifies one of the most informative external findings in forensic medical practice. The presence of the muzzle imprint mark on the body's surface proves ballistic trauma, point of entry, and range of fire. Moreover, its appearance and configuration may indicate the type of the involved weapon and the way the firearm had been positioned and held at the time of discharge. In this paper, we present the contact shot wound pattern of an 83-year-old man who committed suicide with a Frommer Stop 12 M autoloading pistol of caliber 7.65 mm Browning. Initially, the muzzle imprint mark configuration in relation to the entrance gunshot defect in the victim's right temple indicated an unusual application or orientation of the pistol's barrel during discharge, thus, strongly suggesting a non-suicidal act. However, a critical confrontation of postmortem findings along with the results of ballistic expertise provided a clear explanation, which comprised the remarkable construction and unique muzzle design of the used handgun.

Burden of sudden cardiac death in persons aged 1-40 years in the Czech Republic.

OBJECTIVES: The aim of the study was to ascertain the incidence, circumstances and causes of sudden cardiac death in persons aged 1-40 years in the Czech Republic. METHODS: De-identified autopsy reports of all individuals who died suddenly between the ages of 1-40 years during the period 2014-2019 inclusive in a selected area of the Czech Republic were analysed retrospectively. Persons with substantial cardiovascular pathology defined by histopathological criteria and those with a negative autopsy were included in the study. The latter were designated as sudden arrhythmic death syndrome. RESULTS: In total, 245 sudden cardiac death cases were identified resulting in an incidence rate of 2.4/100,000 person-years. Among the deceased, we found an enormous gender gap with men representing 81% of cases. More than 80% of deaths occurred during everyday activities or sleep, whereas only 7% were sports-related. The most common cause of death was coronary artery disease detected in 38%, which was followed by cardiomyopathies in 15%, sudden arrhythmic death syndrome in 12%, left ventricular hypertrophy in 10%, and congenital heart defects in 7%. CONCLUSIONS: Coronary artery disease is the predominant cause of sudden cardiac death in the young population of the Czech Republic. Hence, effective preventive measures targeted at the reduction of risk factors associated with early coronary artery disease should be reinforced. The second most prevalent cause in our population are potentially heritable heart conditions such as cardiomyopathies and sudden arrhythmic death syndrome. This fact has already prompted the introduction of molecular autopsy and cardiogenetic care for relatives in the Czech Republic.

Traumatic Decapitation of the Fetus During Birth: Criminalistic and Forensic Aspects.

Serious intrapartum fetal injuries are unfortunate events that confer severe consequences on medical personnel. Most birth traumas are noncritical and resolve for a few days. Permanent effects or fatal outcomes occur infrequently. We report an unusual case of intrapartum complete fetal decapitation. The labor was complicated by shoulder dystocia, with resultant repeated mechanical trauma to the fetal neck and, finally, decapitation. The tragic results of biological processes in human organisms do not automatically confirm medical malpractice. However, there may be grave ethical and forensic outcomes.

Deceleration thoracic aortic ruptures in trauma center level I areas: a 6-year retrospective study.

OBJECTIVES: This retrospective study aimed to analyze the trend of mortality due to thoracic aortic ruptures caused by deceleration injuries that occurred within the catchment area of Hradec Kralove University Hospital. MATERIALS AND METHODS: The study sample comprised 175 patients who had sustained thoracic aortic ruptures caused by deceleration injuries and were transported to Hradec Kralove University Hospital in 2009-2014. The small proportion of patients enrolled in this retrospective study were diagnosed and treated at the emergency department (ED). However, the overwhelming majority of the sample comprised of patients who died at the accident scene and later underwent an autopsy at the Institute of Forensic Medicine in our hospital. RESULTS: Of 175 patients, 150 underwent an autopsy. Of these, 139 individuals (79%) died at the incident scene, and 11 (6%) were transported to the ED and later died of their injuries. A total of 36 patients were admitted to the hospital; 29 were admitted primary (11 later died), and 7 were transferred. No deaths occurred in the group of secondary admissions. Thus, 31% of all patients hospitalized died following transport to the hospital. Of 175 patients, 15% (or 69% of all hospitalized patients) survived their injuries. Among patients who died as a result of thoracic aortic injury, no unexpected deaths were recorded (i.e., no deaths among patients with survival probability more than 50% = PS > 0.5). CONCLUSION: Our results suggested that the lethality of thoracic aortic injuries might be minimized by transporting triage-positive patients directly to trauma centers. Accurate diagnoses and treatments were supported by admission chest X-rays, a massive transfusion protocol, and particularly, CT angiography, which is not routinely included in primary surveys. An additional prognostic parameter was clinical collaboration between an experienced trauma surgeon, an interventional radiologist, and a vascular or thoracic surgeon.

An Unplanned Complex Suicide by Multiple Blank Cartridge Gunshots and Cutting.

Blank firing guns are readily accessible in most countries due to an absence of legal regulations. These weapons are capable of causing lethal injuries. We report a rare case of secondary (unplanned) complex suicide committed with a knife and blank cartridge pistol. A 59-year-old man was found dead with three superficial incisions in his neck and a gunshot wound to the chest. The external examination revealed an entrance wound in the left chest region consistent with contact shooting. The appearance of a muzzle imprint suggested two discharges. The autopsy showed a slightly hemorrhaged but otherwise intact pericardium, blood in the pericardial sac, and a channel-like defect in the anterior wall of the left cardiac ventricle. The cause of death was attributed to cardiac tamponade. To the best of our knowledge, this is the first reported case of unplanned complex suicide involving an unmodified blank firing gun.

Carbon monoxide-related fatalities: A 60-year single institution experience.

OBJECTIVE: Though carbon monoxide (CO) poisonings account currently for a relatively small percentage of total non-natural deaths in Europe, they represent a serious public health burden and significant component of avoidable mortality in many countries. Our aim was to investigate long-term trends and to determine epidemiologic characteristics of the CO-related deaths in the Czech Republic, recorded at the Department of Forensic Medicine in Hradec Králové. METHODS: This was an autopsy-based single-centre retrospective cohort study of all fatalities caused by CO poisoning over six decades (1947-2006). All data were numerically evaluated and processed using NCSS 10 Statistical Software. Statistical significance was defined as a p-value less than 0.05. RESULTS: A total of 1233 CO-related deaths were identified for inclusion in the study. The manner of death was ranked in order as follows: 45% accidental poisoning, 40% suicidal poisoning, 1% homicidal poisoning, 14% remained undetermined. There were slightly more male victims (59%) than female, and the mean age overall was 48 years. The majority of CO-related fatalities were attributed to coal gas inhalation, with the remainder being from inhaled motor vehicle exhaust fumes, inhaled fire smoke, and other combustion sources such as charcoal, gas and wood-burning appliances. The mean blood carboxyhemoglobin (COHb) level was 66%. A positive blood ethanol concentration was measured in 455 (37%) cases examined. Non-intentional poisonings were highly correlated with the winter months. CONCLUSION: This study shows that the prevalence of CO-related deaths has decreased significantly in the Czech Republic following the widespread detoxification of the domestic gas in the 1990-1995. Our findings suggest that acute ethanol use, poorer socioeconomic position, and inadequate education status about the danger of CO are associated with an increased risk of fatal CO poisoning. Finally, our results demonstrate the continued value of the autopsy in monitoring global public health security issues and socioeconomic situation. Further similar large-scale studies in different populations are needed to improve the targeting of interventions to the groups with the highest level of risk, and to understand the sources of variation in CO-related mortality.

[Current macro-diagnostic trends of forensic medicine in the Czech Republic]. / Makrodiagnostické trendy soucasné soudnelékarské praxe v Ceské republice.

Over the last few years, advanced diagnostic methods have penetrated in the realm of forensic medicine in addition to standard autopsy techniques supported by traditional X-ray examination and macro-diagnostic laboratory tests. Despite the progress of imaging methods, the conventional autopsy has remained basic and essential diagnostic tool in forensic medicine. Postmortem computed tomography and magnetic resonance imaging are far the most progressive modern radio diagnostic methods setting the current trend of virtual autopsies all over the world. Up to now, only two institutes of forensic medicine have available postmortem computed tomography for routine diagnostic purposes in the Czech Republic. Postmortem magnetic resonance is currently unattainable for routine diagnostic use and was employed only for experimental purposes. Photogrammetry is digital method focused primarily on body surface imaging. Recently, the most fruitful results have been yielded from the interdisciplinary cooperation between forensic medicine and forensic anthropology with the implementation of body scanning techniques and 3D printing. Non-invasive and mini-invasive investigative methods such as postmortem sonography and postmortem endoscopy was unsystematically tested for diagnostic performance with good outcomes despite of limitations of these methods in postmortem application. Other futuristic methods, such as the use of a drone to inspect the crime scene are still experimental tools. The authors of the article present a basic overview of the both routinely and experimentally used investigative methods and current macro-diagnostic trends of the forensic medicine in the Czech Republic.

Postmortem Increase in Body Core Temperature: How Inaccurate We Can Be in Time Since Death Calculations.

Postmortem increase in body core temperature is a well-known phenomenon in forensic practice. Despite this, cases of reliably documented postmortem hyperthermia are rarely reported in the forensic literature, and it is still not clear how frequently postmortem hyperthermia occurs and in which cases we may it predict. In routine forensic practice, the standard course of body cooling is expected, and the prediction of normal body core temperature in the time of death is used for back-calculating the time of death by Henssge method. The unexpected rising in body core temperature may considerably misguide the estimation of time since death in the early postmortem period. We present a rare case of nonviolent death in the hospital with exactly recorded unusual elevation of body core temperature after death, although the body temperature shortly before the death was normal. In the presented case, the "standard" cooling of the body began up to 4 hours after death.

[Correct indications and performing of autopsies in the Czech republic]. / Správný postup pri indikaci a provádení pitev v Ceské republice.

Since July 1st 2016 Czech law, after more than two years after the new Civil code came into force, in turn, permits performing the clinician indicated pathological-anatomical autopsies with regard to their basic purpose, which is to identify the cause of death, other diseases, complications of diseases and to verify the clinical diagnosis and medical treatment of patient.For physicians requesting an autopsy it is important to know the rules for their indication and implementation. These rules respect the public interest in performing the autopsies as well as the possibility to decide about post-mortem treatment of the own body and bodies of close relatives.Clinical autopsies can be divided into three groups: absolutely obligatory (carried always), relatively obligatory for professional reasons (with possibility of cancellation after additional professional assessment by a provider performing the autopsy) and relatively mandatory after the disapproval of the autopsy (by the deceased during his life or on the request of close relatives after death).The paper presents a review of medical practice regarding autopsies indicated by clinicians according to generally binding legal regulations in the Czech Republic.

[Benefits of otoscopy in forensic autopsy practice: A prospective study]. / Význam otoskopie v soudnelékarské diagnostice: prospektivní studie.

The otoscopy is an examination of the external auditory canal, the eardrum, and the middle ear with an instrument called an otoscope. It is a simple, inexpensive, and time-saving endoscopic method typically used by general practitioners and otorhinolaryngologists. Authors present a prospective study of otoscopic findings investigated consecutively at autopsy. Of the 250 examined persons, 50 positive findings were identified: 38 cases with petechial hemorrhages and 12 cases with tympanic membrane perforation or hemotympanon. Hemorrhages of the tympanic membrane detected through the otoscopy may serve as evidence of congestion within head and neck potentially associated with asphyxiation either in the death or in the living (similar to periorbital and conjuctival petechial hemorrhages). In our study, hemorrhages of the tympanic membrane were related to heart failure, hanging and asphyxiation. Perforated tympanic membrane and hemotympanum have been sporadically reported in victims of fatal lightning strike and rarely in strangulation. This findings were in our study associated with craniocerebral injuries: traffic accidents, falls from height and gunshot injuries. The otoscopy may help to reveal various traumatic and pathological changes within the outer and the middle ear, and, thus, provide important forensic evidence. The otoscopy is also highly recommended in the investigation of the sudden deaths in the young.

Atypical stab injury suggesting ritual suicide.

Sharp weapons have been one of the most common deadly tools in cases of homicide and suicide for a long time. Tentative incisions accompany the majority of suicides by sharp force and the absence of hesitation marks provokes questions about the manner of death. We present the bizarre fatality of a 41-year-old male with an isolated circumscribed incision on the right neck, where the body was found lying in a pool of blood in the shower of his apartment. The internal examination revealed a 4-cm-long channel-like defect running inwardly and downwardly along the right sternocleidomastoid region. The cause of death was external bleeding from an injured right carotid artery and internal jugular vein. The wound had clean non-contused margins without any conspicuous hesitation injuries. A fragment of a razor blade, found in blood splatters, was identified as the only potential injuring tool. The case was classified as a suicide.

[The application of X-ray imaging in forensic medicine]. / Vyuzití RTG vysetrení v soudním lékarství

X-ray is the most common, basic and essential imaging method used in forensic medicine. It serves to display and localize the foreign objects in the body and helps to detect various traumatic and pathological changes. X-ray imaging is valuable in anthropological assessment of an individual. X-ray allows non-invasive evaluation of important findings before the autopsy and thus selection of the optimal strategy for dissection. Basic indications for postmortem X-ray imaging in forensic medicine include gunshot and explosive fatalities (identification and localization of projectiles or other components of ammunition, visualization of secondary missiles), sharp force injuries (air embolism, identification of the weapon) and motor vehicle related deaths. The method is also helpful for complex injury evaluation in abused victims or in persons where abuse is suspected. Finally, X-ray imaging still remains the gold standard method for identification of unknown deceased. With time modern imaging methods, especially computed tomography and magnetic resonance imaging, are more and more applied in forensic medicine. Their application extends possibilities of the visualization the bony structures toward a more detailed imaging of soft tissues and internal organs. The application of modern imaging methods in postmortem body investigation is known as digital or virtual autopsy. At present digital postmortem imaging is considered as a bloodless alternative to the conventional autopsy.