[Ultrastruktural diagnosis of hypertrophic kardiomyopathy with ß-aktin mutation in sudden death - case report]. / Ultrastrukturální diagnostika hypertrofické kardiomyopatie s mutací ß-aktinu u náhlého úmrtí - kazuistika.

INTRODUCTION: Light microscopy and electron microscopy rank among methods to diagnose of cardiomyopathy in forensic medicine, and, recently, the methods of molecular biology. METHODS: Investigation of 27 year old man who collapsed on his way to work. The Rescuers did not succeed resuscitation of vital function. Samples were H-E stained and processed for the electron microscopy. RNA was isolated from the tissue for the alpha, beta, gama actine primer investigation. RESULTS: By H-E staining we proved irregular hypertrophic cardiomyocytes (disarray) with the links and loci patches of thin fibrosis. Ultrastructurally we diagnosed a disarray of Z-bands, accumulation of mitochondria, rectangular nuclei of cardiomyocytes. We have detected rare plasmocytes and leucocytes with specific granules in cytoplasma. In the electronogrames we can see myofibriles oriented longitudinally and transversally. A genetic examination demonstrated beta actin mutation. CONCLUSION: Cardiomyopathy can be a cause of sudden and unexpected death in young individuals and its diagnostics requires an interdisciplinary collaboration. KEYWORDS: Sudden and unexpected death - hypertrophic cardiomyopathy - ultrastructure of cardiomyocyte - gene mutation.

Pathomorphology of inflammatory response following traumatic brain injury, serum values of interleukins, and gene polymorphisms.

UNLABELLED: Our present study was aimed to investigate time-profile kinetics of interleukins, vascular endothelial growth factor (VEGF) in acute inflammatory response following traumatic brain injury, and the influence of activated microglial cells in patients who developed severe space occupying lesion (SOL) of secondary traumatic brain injury. Interleukins IL-6, monocyte chemo attractant protein (MCP-1), and VEGF had a significant different time-profile kinetics (p<0.05) in patient with, and without expansive traumatic brain contusions (SOL). The serum VEGF was significantly higher in trauma patients with uncomplicated brain contusions, and lower in patients with SOL. The patients with septic complications developed the sudden increase of TNF alpha and IL-8 within the first 72 hours. Our data suggested PSGL and CD68 immunopositivity of microglial cells in both focal and diffuse TBI, predominantly in perivascular space correlated with telolysosome formation in cytoplasma. Polymorphism of PAI-1, MTHFR, eNOS, VEGF, and Apo E genes in TBI were in patients with SOL were bound to show up leucocyte plugging in capillaries. KEYWORDS: traumatic brain injury - acute inflammatory response - microglial cells - interleukins - vascular endothelial growth factor - monocyte chemoattractant protein - gene polymorphisms.

[Traumatic changes of intrathoracic organs due to external mechanical cardiopulmonary resuscitation. Case reports]. / Úrazové zmeny nitrohrudních orgánu vzniklé pri externí mechanické kardiopulmonální resuscitaci. Kazuistiky.

UNLABELLED: External mechanical resuscitation systems were developed for continuous and effective chest compression with the goal to increase the probability of spontaneous blood circulation renew. We describe results of four autopsy cases, where the external mechanical resuscitation by system Lucas (n=3) and AutoPulse (n=1) was performed prior to death. In all the cases were found traumatic changes which are commonly described in various studies such as skin abrasions on the chest, multiple rib fractures, fracture of the sternum and hematoma in the mediastinum or pericardium. In addition to these usual traumatic changes accompanying mechanical cardiopulmonary resuscitation we have observed injuries of intrathoracic organs, mainly the contusions of the heart and contusions and laceration of the lungs. In addition to these changes were in one case, associated with prolonged AutoPulse resuscitation, found ruptures of intima of the right common carotid artery. These injuries, with few exceptions, are not commonly described even over much wider number of examined persons. Injuries of the abdominal organs in connection with mechanical resuscitation, as described in a few case reports, were not present. However in one case there was found contusion of myocardium due to the external resuscitation by the Lucas system with clinical manifestation of sudden coronary incident even though the cause of death was massive thrombotic embolism to pulmonary arteries. All reported cases were similar in the relatively long-lasting mechanic cardiopulmonary resuscitation and prolonged time of dying of the patients. KEYWORDS: cardiopulmonary resuscitation - Lucas - AutoPulse - intrathoracic injury.

Methamphetamine in hair and interpretation of forensic findings in a fatal case.

Hair analysis for drugs has been developing and is considered a significant tool for distinguishing between recent and long-term drug abuse in forensic and clinical toxicology. Chronic consumption of drugs can gradually induce certain harmful effects on the human organism and can exacerbate some pre-existing diseases. Analysis for drugs in blood or urine in isolation does not provide sufficient information about the history of drug-use by a person and their results cannot be correlated directly with the toxic effects displayed. The chronic abuse of methamphetamine is known to be associated with cardiovascular diseases. During or after autopsy certain types of morphologic alterations are found in the hearts of stimulant addicts. The rapid increase in blood pressure after an intravenous methamphetamine dose can be risky for addicts with arteriosclerosis. However, the anamnestic data about a deceased person may not always be available to explain the pathological findings and to classify the cause of death correctly. The aim of this study was to demonstrate the value of hair analysis for drugs in the context of explaining pathological cardiovascular alterations observed during the autopsy in a case where methamphetamine consumption was involved. In this case, only methamphetamine and metabolites were detected with traces of ephedrine. Ephedrine is the precursor chemical in the illicit synthesis of methamphetamine (known in the Czech Republic as "Pervitin"). The femoral blood level of methamphetamine was 1500 ng/ml. It was documented by a witness that the 31-year-old man died within 1h after an intravenous injection of the drug. The cause of death was established as cerebral edema due to cerebellar bleeding shortly after an intravenous dose of methamphetamine. Findings of methamphetamine in the first three 2-cm hair segments (numbered from the roots) were nearly equal (132+/-9 ng/mg). In the fourth 2-cm segment, it was approximately one-half of previous values. In the remaining, distal 7-cm hair segment sample, the value of methamphetamine was higher and comparable to the third segment. These results provide clear evidence that the man had been a chronic methamphetamine abuser for more than 8 months. This information can help to explain the pathology, the consequence of which could be the bleeding into the cerebellum after the last single methamphetamine dose.

DNA-adducts and atherosclerosis: a study of accidental and sudden death males in the Czech Republic.

Atherosclerosis and carcinogenesis may share some common mechanisms of the genotoxic action of exogenous compounds, such as polycyclic aromatic hydrocarbons (PAHs). The main objective of this study was to test the hypothesis that "bulky" aromatic DNA-adducts in smooth muscle cells (SMCs) of thoracic aortas taken at autopsy from sudden and accidental death male subjects, aged between 30 and 60 years (N=133), are associated with the stage of atherosclerosis. The subjects with severe atherosclerotic damage were treated as "Cases" (N=66). The subjects meeting diagnostic criteria for slight and moderate total atherosclerotic body damage were treated as "Controls" (N=67). An additional objective of the study was to evaluate the effect of known atherogenic risk factors and possible modifiers of atherosclerotic changes, such as age, smoking, plasma lipid and antioxidant vitamin levels and some genetic susceptibility markers, e.g. polymorphisms of GSTM1, GSTT1, NAT2, CYP1A1 or apolipoprotein E (APO E) genes. We found significantly higher DNA-adduct levels in "Cases" as compared with "Controls" (2.11+/-1.07 adducts/10(8) nucleotides versus 1.49+/-0.55 adducts/10(8) nucleotides, P<0.001). "Cases" were significantly older and had elevated heart weight and plasma cholesterol levels and a higher frequency of overweight subjects as compared with "Controls". No significant differences in DNA-adduct levels between smokers and non-smokers within either group were detected. Multivariate logistic regression revealed that the "bulky" aromatic DNA-adducts, which are the most likely related to environmental exposure to genotoxic chemicals, remain a statistically significant predictor of the stage of atherosclerosis (OR=3.76, 95% CI=1.54-9.18, P=0.004) even after adjustment for age, smoking, obesity, heart weight and genetic susceptibility markers (GSTT1 and CYP1A1-MspI polymorphisms) that were also significant predictors. The fact that the "bulky" aromatic DNA-adduct levels predict the progression of atherosclerosis independently of smoking indicates that the formation of atherosclerotic plaques may also be initiated by environmental exposures other than tobacco smoke.

A concise history of forensic medicine in Czech Republic.

This paper presents the most important historical facts about all forensic medicine workplaces in the Czech Republic since the beginning till present day, including a perspective on how to establish a new one. Each of the University Forensic Medicine Institutes or district Departments is covered by at least one author. The oldest institute is in Prague and in Brno, the youngest is in Pardubice.