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Biomedical subjects

T Bajanowski

Publications and source records attributed to T Bajanowski.

At least 37 records · Page 2Linked to original sources

Pathological changes of the heart in sudden infant death.

There are more than 120 different theories on the possible causes of sudden infant death (SID). In particular, dysfunctions of the central nervous system, cardiorespiratory insufficiency due to infections including atypical immune reactions, and cardiac dysregulation have been discussed during the previous decade. Reports on disturbances of the cardiac rhythmogenic function due to LQTS were among the most speculative. Based on gross histological, immunohistochemical and molecular genetic investigations of SID cases, the most important and most frequent findings of the heart are shown. The significance of different types of myocarditis, hypoxia-related changes, disturbances of the rhythmogenic function, cardiomyopathy, and other changes is discussed with regard to the cause of death. In conclusion, most of the changes reported in the literature are not sufficient to explain the cause of death. Problems in the diagnosis are shown which influence the classification of these disturbances as well as the classification of SID.

Arrhythmias, Cardiac↗

Detection of RNA viruses in sudden infant death (SID).

Continuing previous work, reverse transcriptase polymerase chain reaction approaches for the detection of RNA viruses (influenza A+B, parainfluenza virus 3, respiratory syncytial virus) were developed. A total of 118 infant deaths, including 13 cases of non-natural death (nND), 78 cases of natural death (ND) without morphological signs of interstitial pneumonia (IP), 27 cases showing IP (ND+IP), were investigated using frozen lung tissue ( N=100) and paraffin-embedded material ( N=18). In five of the autopsy cases (ND+IP) the influenza B virus genome could be detected and the other types of viruses were completely negative. Together with previous results (detection of adenoviruses and cytomegaloviruses) in the same groups, the frequency of virus detection in the cases with IP was 48% compared with 14% in the ND without IP and 7% in the nND. Significant differences in the frequency of virus detection were also obtained when the cases were divided in SIDS and non-SIDS. The results obtained indicate an association between IP and some viruses and support the hypothesis that respiratory virus infections could act as trigger in sudden infant death.

Autopsy↗

Dioxin in infants--an environmental hazard?

The concentrations of the most common dioxin and dibenzofuran congeners were measured in different tissues (e.g. liver, kidneys, subcutaneous fatty tissue and spleen) from 27 infants who died suddenly and unexpectedly. The cases could be subdivided into 2 groups consisting of 15 infants who died in 1991/1992 and in 12 infants who died in 1996/1997. The autopsies were carried out using a standardised protocol and additionally the parents were asked to supply details of the nutritional conditions. The age of the mother and the birth order of the infants were also recorded. From the results obtained by correlating these parameters with the dioxin concentrations three main factors could be established: 1) there was a significant decrease in the total dioxin concentration in infant tissues from 1991/1992 to 1996/1997 indicating a decrease in the environmental dioxin levels due to a decrease in dioxin emission, 2) the birth order was inversely and the duration of breast feeding directly proportional to the dioxin concentrations thus showing that the mothers can decontaminate themselves by breast feeding and 3) an accumulation of specific dioxin congeners was observed in the liver tissue but the pathophysiological significance of these observations is not yet fully understood. Because of the well-known beneficial effects of breast feeding and considering the results of the present study, this type of infant nutrition can be recommended without any restrictions.

Adult↗

De novo mutation in the SCN5A gene associated with early onset of sudden infant death.

BACKGROUND: Congenital long QT syndrome (LQTS), a cardiac ion channel disease, is an important cause of sudden cardiac death. Prolongation of the QT interval has recently been associated with sudden infant death syndrome, which is the leading cause of death among infants between 1 week and 1 year of age. Available data suggest that early onset of congenital LQTS may contribute to premature sudden cardiac death in otherwise healthy infants. METHODS AND RESULTS: In an infant who died suddenly at the age of 9 weeks, we performed mutation screening in all known LQTS genes. In the surface ECG soon after birth, a prolonged QTc interval (600 ms(1/2)) and polymorphic ventricular tachyarrhythmias were documented. Mutational analysis identified a missense mutation (Ala1330Pro) in the cardiac sodium channel gene SCN5A, which was absent in both parents. Subsequent genetic testing confirmed paternity, thus suggesting a de novo origin. Voltage-clamp recordings of recombinant A1330P mutant channel expressed in HEK-293 cells showed a positive shift in voltage dependence of inactivation, a slowing of the time course of inactivation, and a faster recovery from inactivation. CONCLUSIONS: In this study, we report a de novo mutation in the sodium channel gene SCN5A, which is associated with sudden infant death. The altered functional characteristics of the mutant channel was different from previously reported LQTS3 mutants and caused a delay in final repolarization. Even in families without a history of LQTS, de novo mutations in cardiac ion channel genes may lead to sudden cardiac death in very young infants.

Age of Onset↗

Prolonged QT interval and sudden infant death--report of two cases.

In the two cases where infants died suddenly and unexpectedly the electrocardiogram (ECG) of a younger sibling (case 1) and of a living twin (case 2) led to the suspicion that the two infants could have died from long QT syndrome (LQTS). In case 1, a His bundle (HB) dispersion and a pronounced hypoplasia of the right external nucleus arcuatus were detected. In case 2, a severe interstitial pneumonia and an accompanying mild myocarditis were found by histology. Molecular genetic investigations of the coding regions of the genes, HERG, KVLQT1 and SCN5A gave no indication for the mutations, thus, affecting related myocardial ion channels as possible sources of inhomogeneity of repolarisation. Since a molecular genetic deviation could not yet be elaborated the possible role of related disturbance remains unknown.

Arcuate Nucleus of Hypothalamus↗

Fatal neglect of the elderly.

Maltreatment of the elderly is a common problem that affects more than 3% of the elderly. We report on two cases of fatal neglect. Risk factors of victims and caregivers were analysed in the context of the social history. In both cases, the victims had a dominant personality and the abusers (the sons) had been strictly controlled and formed by the parent. The victims showed typical risk factors such as living together with the abuser, isolation, dependence on care, income and money administration. Initially, the victims declined help from outside and self-neglect occurred. The unemployed perpetrators lived in social isolation and depended financially and mentally on the victims. In both cases no mental illness was present but there was a decrease of social competence. Legal medicine is predominantly involved in fatal cases in connection with external post-mortem examinations and autopsies. Also in the living, the medico-legal expert can assist in the identification of findings in elderly persons in cases of suspected abuse.

Aged↗

Scratched pustule or gunshot wound? A medical odyssey.

The diagnosis of a gunshot wound can be difficult especially if the morphology is not typical. In the case presented a neck injury was not recognised as a gunshot wound by several clinicians and radiologists although the bullet could be seen at the base of the patient's tongue and on all X-rays taken. This misinterpretation may have been caused by a "professional blinkers phenomenon".

Cervical Vertebrae↗

The cloven hoof in legal medicine.

The injury of a horse's leg needed to be investigated to answer the question whether the fracture had been caused by an accident or by intentional manipulation. By toxicology and using scanning electron microscopy with an energy dispersive X-ray spectrometer (SEM-EDX) the suspicion obtained by morphology could be confirmed. Toxicologically a short term anaesthetic was found, and by EDX ferric oxide particles could be detected in the wound indicating that the injury was caused by a sharp pointed metallic instrument and not as stated by the owner by a wooden bar. As the result of the interdisciplinary investigation using modern techniques, there is no doubt that the owner attempted to fraudulently claim on an insurance policy.

Animals↗

Development of haemoglobin subtypes and extramedullary haematopoiesis in young rats. Effects of hypercapnic and hypoxic environment.

The influence of repeated hypoxia on the development of haemoglobin (Hb) subtypes and on extramedullary haematopoiesis (EMH) was investigated in young Wistar rats of different ages. The rats were exposed to hypercapnic/hypoxic and to "simple" hypoxic conditions. The results obtained were compared to those of an untreated age-matched control group. Different globin chains were measured using HPLC and time-of-flight (TOF) mass analysis. The number of EMH cells was evaluated by cell counting. By determining the proportions of alpha- and beta-chains, fetal, neonatal and mature types of globin chain composition could be differentiated. The beta-2 chain levels were significantly higher in hypercapnic/hypoxic environments than in the controls and simple hypoxic environments. The numbers of EMH cells in the two groups subjected to hypercapnia/hypoxia decreased significantly more slowly compared to the controls and simple hypoxia groups. Therefore, the development of Hb subtypes and the EMH activity in rats were influenced by both repeated hypercapnia and hypoxia.

Animals↗

Suicide of a diabetic by inducing hyperglycemic coma.

Deaths due to hyperglycemic and hyperosmolar coma in diabetics are usually disease-related. In the exceptional case reported here there was evidence for an intentional ingestion of a sugar solution, the person was a diabetic and known to be depressive suggesting a suicidal intention. The autopsy findings were inconspicuous and only further laboratory findings led to the final diagnosis.

Aged↗

Thickness of the air-blood tissue barrier in infants.

The harmonic mean barrier thickness of the alveolar air-blood tissue barrier was measured in nine SIDS cases, six cases of unnatural death (three with asphyxiation, three without asphyxiation) and six cases showing interstitial pneumonia (IP, three cases with lymphomonocyte infiltration of alveolar walls, three cases with peribronchiolar infiltration). Approximately 550-600 measurements were carried out in each case using micrographs with a final magnification of 11,000. The Th values ranged between 0.37 micron and 0.39 micron in the SIDS group, in deaths due to asphyxiation and IP with a peribronchiolar type of infiltration, were lowest in the unnatural deaths without asphyxiation (0.32 micron) and highest in cases showing IP with alveoloseptal infiltration (0.44 micron). The differences between the groups were significant (H-test, Hcor = 5.927). Compared to "normal" unnatural deaths (Th = 0.32 micron), cases with interstitial cell infiltration of the alveolar septa showed a nearly 40% increase of the barrier thickness which indicates a corresponding decrease of the diffusion capacity. A decreased diffusion capacity can cause hypoxemia which could be an additional trigger mechanism in the death process.

Age Factors↗

Use of polymerase chain reaction for postmortem diagnosis of malaria.

Delay or failure in diagnostic or therapeutic management of Plasmodiumfalciparum malaria may result in avoidable deaths, often incurring medicolegal procedures. Advanced postmortem autolytic processes and putrefication may thwart malaria diagnosis by traditional microscopic and histologic examinations. The authors describe the usefulness of polymerase chain reaction to confirm postmortem diagnosis of malaria.

Adolescent↗

Enhanced reactivity of Alz-50 antibody in brains of sudden infant death syndrome victims versus brains with lethal hypoxic/ischemic injury. Diagnostic significance after application of the ImmunoMax technique on routine paraffin material.

Alz-50 antibody is immunoreactive with brain tissue of subjects with Alzheimer's disease and can also be demonstrated by immunocytochemistry in neurons of vibratome-prepared brain tissue of victims of sudden infant death syndrome (SIDS). The application of a slightly modified ImmunoMax method enabled us to demonstrate Alz-50 immunoreactivity in paraffin-embedded material. The Alz-50 epitope was detected in the hippocampus region and in nuclei of the medulla oblongata at the level of the inferior olivary protuberance in three diagnostic groups: victims of SIDS (n = 10), infants dying of subacute hypoxia/ischemia with subsequent (re-)perfusion (n = 9), and infants dying of acute ischemia without (re-) perfusion (n = 7). Quantitative evaluation of the hippocampal cortex and the nucleus olivaris inferior disclosed a significantly (P < 0.05) higher percentage of Alz-50-reactive neurons in SIDS cases than in the control groups (hippocampal cortex and the nucleus olivaris; SIDS victims: median = 100%; subacute hypoxia/ischemia: median = 33.6-81%; acute ischemia: median = 89.2-99%). Semiquantitative analysis revealed an equally pronounced preponderance of Alz-50-reactive neurons in SIDS victims versus the control groups. This greater expression in SIDS victims may be due to an ongoing hypoxia/ischemia during agony, but the present paucity of knowledge prohibits definitive elucidation. Nevertheless, the method described here appears to offer the realistic possibility of distinguishing SIDS cases from cases of sudden death in infants due to other causes, i.e., it offers for the first time a positive criterion for the diagnosis of SIDS.

Age Factors↗

Detection and analysis of tracers in experimental drowning.

In animal experiments, studies on the mechanisms involved in drowning were carried out using latex and gold tracers of defined size and concentration. The tracers were detectable by fluorescence microscopy (latex tracers) and by electron microscopy (gold tracers) in the lungs, kidneys and lymph nodes and were analysed further by X-ray microanalysis using a transmission scanning electron microscope. Tracers with small diameters were shown to penetrate intercellular gaps of the alveolar epithelium and the larger tracers were incorporated into the epithelial and endothelial cells by active pinocytotic mechanisms thus passing through the air-blood barrier. The detection and analysis of tracers in organs of the systemic circulation originating from the immersion fluid can assist in understanding the pathophysiology of drowning and in some selected cases, in making a more definitive diagnosis.

Animals↗

Proof of fatal air embolism.

Venous air embolism is a rare cause of death. Entry of gas into the circulation is caused by trauma, mostly surgical or therapeutic, and sometimes resulting from criminal intervention. The detection of air embolisms requires special precautions during autopsy. An aspirometer has to be used for the detection, measurement and storage of gas originating from the heart ventricles. The aspirometer has to be filled completely with distilled water containing two drops of Tween 80 to reduce the surface tension of the water and to prevent adherence of small air bubbles to the wall of the aspirometer. Subsequently the gas has to be analysed by gas chromatography. When the results correspond with the main criteria defined by Pierucci and Gherson [2] the diagnosis "air embolism" is justified. The technique for the detection of air embolism is simple but requires a careful procedure which is described in detail.

Autopsy↗

Proof of air embolism after exhumation.

The detection, storage, and analysis of gas taken from the heart ventricle is necessary to diagnose a fatal air embolism and this requires special precautions during autopsy. When the results of gas analysis correspond to the criteria defined by Pierucci and Gherson the diagnosis "air embolism" is justified. In cases showing putrefaction the diagnostic value of gas analysis was negated. In a series of 15 patients who were assumed to have been killed by air injection in a peripheral vein the corpses were exhumed and a full medico-legal examination was carried out including gas analysis. In 8 cases results could be obtained indicating a mixture of embolised air and gases of putrefaction. In two control groups comprising 10 exhumed bodies and 30 cases showing advanced putrefaction, gas analysis showed putrefaction gases except in 5 cases with gas volumes less than 5 ml in the right ventricle. Therefore gas analysis can be helpful to diagnose fatal air embolism even in cases showing putrefaction while the diagnosis of putrefaction gases only does not exclude this diagnosis.

Aged↗

Basement membrane thickness of the vocal cord in cases of sudden infant death.

In 1991, 1994 and 1997 Shatz et al. reported on a specific and pathognomonic basement membrane (BM) thickening of the vocal cord in cases of sudden infant death syndrome (SIDS). In 40 cases of sudden and unexpected infant death the histological examination of the larynx was performed to identify possible differences between SID (n=26) and non-SID (n=14) cases. The dissection technique of Hohmann (1963) and Maxeiner (1986) was modified for the infant's larynx. Since the normal range of the BM thickness of the vocal cord for the age group younger than 1 year had not yet been exactly defined, a reference interval had to be established (0.5 microm-2.0 microm). In 2 SID and 1 non-SID cases a mean BM thickness (BMT) of more than 2.0 microm could be estimated (2.38 microm-2.95 microm). The BMT in these cases appeared to be highly variable and not harmonically thickened. None of the investigated regions of the BM (cranial to caudal thirds, ventral to dorsal areas) seemed to be preferred thickened. There was no statistically significant difference between the two groups. A specific thickening of the BM of the vocal cord in SID cases could not be confirmed. Therefore, BMT cannot be used as a diagnostic postmortem marker for SID.

Basement Membrane↗

Sudden unexpected death in infancy: epidemiologically determined risk factors related to pathological classification.

Infants that died suddenly and unexpectedly were studied as part of the European Concerted Action on sudden infant death syndrome (SIDS). Three paediatric pathologists, first independently of each other and later in a consensus meeting, classified 63 cases into 3 groups: SIDS (19 cases), borderline SIDS (30 cases) and non-SIDS (14 cases). The interobserver agreement among the pathologists before the consensus meeting was moderate (Kappa = 0.41) and jointly it was higher (Kappa = 0.83). The distribution of epidemiologically determined risk factors was studied over these three groups. Maternal smoking after birth, low socioeconomic status and thumb sucking were found more often in SIDS than in the other cases. Inexperienced prone sleeping was a determinant for SIDS, but not for non-SIDS. Previous hospital admission, low birthweight and/or short gestation were associated with borderline SIDS. Non-SIDS cases received more breastfeeding, the parents hardly smoked during pregnancy and after birth, a firm mattress had been used, and more often signs of illness had been reported by the parents, compared with the SIDS and borderline SIDS cases. Bedding factors and both primary and secondary prone sleeping were equally distributed over the three groups which supports the hypothesis that, in SIDS and borderline SIDS, as well as in non-SIDS cases, some similar external and preventable factors might influence the events leading to death. Research should therefore focus on all sudden unexpected deaths, after which subgroups such as SIDS cases can be separately analysed. The postmortem is an essential part of the whole work-up of each case and the results should be interpreted with all other available data to arrive at a sound evaluation of cases and thus form the basis for the prevention of all sudden unexpected infant death.

Bedding and Linens↗