[Sudden infant death--forensic aspects and pathophysiology].
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Biomedical subjects
Publications and source records attributed to T Bajanowski.
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In 50 cases of sudden infant death cervical, paratracheal and lung hilar lymph nodes, the thymus and the spleen were investigated by histology and immunohistochemistry (CD 20, 21, 45RO). The cases were divided into 3 groups based on autopsy findings including extensive histology: A --without pathological changes (N = 12), B --with minimal to intermediate inflammation (N = 23) and C --with severe inflammation (N = 15). In accordance with previous results the frequency of "pathological" lymph node changes, such as paracortical lymphoid hyperplasia and variegated hyperplasia of the pulp increased from group A to group C. The B-cell antigens reacted accordingly. A pronounced lymphodepletation of the thymus as a sign of a long lasting stimulation of the T-cell system was also observed increasingly from group A to C. In summary, in none of the cases results obtained were indicative of a defect of the T- or B-cell system. The results in group A seem to indicate that changes in the reaction pattern of the lymphoid tissues could be a more sensitive method of detection of early stages of inflammation than local histology.
The pancreatic islets from 112 infants (66 males and 46 females) who died of SIDS during the years 1990-1992 have been studied. The control group consisted of endocrine pancreas tissue from 19 infants who died of a clear cause of death (pneumonia, drowning, sepsis, etc.). The mean age of the SIDS group was 5.1 months. We found histologically normally developed organs in all the SIDS cases. By evaluating the relative endocrine cell area of the pancreas by immunohistochemical investigations, A-cells were found to make up 10-30%, B-cells 30-60%, D-cells 10-30% and pancreatic polypeptide cells less than 10% in the SIDS group and in the controls with a small increase in glucagon and insulin cells among SIDS cases. The morphometric evaluation revealed that cell enlargement and cytoplasm shrinking occurred slightly more often in the SIDS group than in the control group. The diameter of the islets was normal and the maximal volume was not enlarged. The results did not show significant differences so that a relationship between alterations of the endocrine pancreas and sudden infant death syndrome could not be demonstrated.
Respiratory tract infections have been thought to act as a trigger mechanism in sudden infant death. In 118 autopsy cases of infant death, paraffin-embedded or frozen lung tissues were investigated by means of a nested polymerase chain reaction (PCR) to detect adenovirus (AV) DNA. The primers used are general primers and allow the detection of most pathogenic adenoviruses with high specificity and sensitivity and independently of devitalization of viruses or degradation of viral DNA. For the investigation three groups were established: there were 13 cases of unnatural death, 78 cases of natural death without histological signs of interstitial pneumonia, and 27 cases with interstitial pneumonia. The first group was AV negative. In the group without interstitial pneumonia AV was detected in 10.2% of the cases. In the group with interstitial pneumonia the frequency of AV detection was almost 26%. The results obtained demonstrate an association between interstitial pneumonia and detection of AV DNA, indicating that AV may play an important part in pulmonary infection in infants. Histological evidence of interstitial pneumonia was not observed in all AV-positive cases, perhaps because nonspecific virus-related changes occurred only in early stages of viral infection. Comparison of the AV frequency in SIDS (25%) and non-SIDS cases (4%) indicates an association between pulmonary AV infections and sudden death. These results support the working hypothesis of respiratory infections acting as a trigger mechanism in sudden infant death.
A 6-year-old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep-tendon reflexes which suggested Charcot-Marie-Tooth disease. Her sister, who also had both polyneuropathy and a progressive central nervous system (CNS) disease, did not have pigmentary retinopathy. At autopsy, the patient was found to have neuronal ceroid-lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluorescent granular lipopigments in ballooned perikarya and conspicuous extraneuronal pigmentation of subcortical grey matter, but without axonal spheroids. These findings indicate a pigment variant of NCL and represent one of very few patients recorded. The ultrastructure of the intraneuronal pigments was uniformly granular, while that of the extraneuronal pigments found within processes of the neuropil and glial perikarya was more variegated. In addition to those patients with the pigment variant of NCL, described earlier by Jakob and Kolkmann [1973: Acta Neuropathol (Berl) 26:225-236], and Jervis and Pullarkat [1978: Neurology 28:500-503], our patient shared clinical symptoms with those described in a family afflicted with polyneuropathy and NCL by Wisniewski et al. [1987: J Child Neurol 2:33-41]. Currently, it is unclear whether they have similar atypical forms of juvenile NCL (JNCL). We conclude that the spectrum of pigment variants in lysosomal diseases is heterogeneous: only few and recently described patients have had NCL, while others most likely had other forms of lipidosis.
A nested PCR approach has been developed especially for the detection of small amounts of cytomegalovirus (CMV) DNA in autopsy samples. Lung tissue and submandibular glands in 118 cases of infant death (92 SIDS cases, 13 natural deaths due to other defined causes and 13 unnatural deaths) were investigated by this technique and compared to the results obtained by other CMV detection methods (histology, immunohistochemistry, in situ hybridization and PCR). CMV-DNA could be detected in the lung tissue in 7 cases of SIDS using nested PCR. Compared to conventional PCR (3 positive cases in lung tissue) the nested approach always gave glear results and showed less additional bands. In all cases where CMV could be detected in the lungs, positive results were also obtained in the submandibular glands. The nested PCR method proved to be a more sensitive technique than the other detection methods including PCR and hot start, and even minimal amounts of target DNA could be detected in the presence of human and bacterial background DNA.
The thyroid glands of 107 SIDS victims (sudden infant death syndrome) have been studied. Controls consisted of 20 thyroid glands from infants who died of other causes (accidents, pneumonia etc.). The thyroid glands were investigated histologically, immunohistologically and morphometrically. Immunohistochemistry (S-100 protein and calcitonin) and morphometry showed no significant results. Histologically, hyperemia (severe: 34 cases = 31.8%; mild: 23 cases = 21.5%), and fibrosis (45 cases = 42.1%; mild: 26 cases = 24.3%) were found. A large number of cases showed depleted follicles (87 cases = 81.3%), little colloid (little: 37 cases = 34.6%; none: 9 cases = 8.4%) and desquamation (severe: 21 cases = 19.6%; abundant: 20 cases = 18.7%). Only fibrosis and depleted follicles were found more often in SIDS than in the controls (conditional logistic regression: rise of incidence for SIDS 2.9 times, P = 0.028, and 1.2 times, P = 0.051, respectively), a commoner occurrence of hyperemia in SIDS was of limited significance (P = 0.105). The alterations found can be taken as stress reactions to current or recurrent hypoxemia and the mild fibrosis indicates recurrent hypoxemia. All alterations indicate that the victims had previously suffered near death episodes. Even though the glands were handled with care, artefacts and autolysis must be taken into consideration. Neither the histological, immunohistological nor morphometrical studies of the thyroid gland gave an explanation as to the cause of death or showed any changes providing explicit help in diagnosing SIDS.
The sudden infant death syndrome (SIDS) is at present based on unknown pathogenetical mechanisms but in industrial nations is the most common cause of death in infancy after the perinatal period. Studies of a large number of adrenal glands in this syndrome have not been reported. Therefore, we evaluated 146 SIDS cases (85 males, 61 females, aged 14-465 days) and 24 control cases (17 males, 7 females, aged 18-623 days) by light microscopy, morphometry and immunocytochemistry (anti-chromogranin A and anti-S100 protein). Our data revealed a normal maturation of the adrenal glands in SIDS cases. Necroses, extensive hemorrhages or inflammation were not found. A focal lipid depletion of the zona fasciculata was seen in 92% of the adrenal glands of the SIDS and control cases. We found a siderosis (in 33% of the SIDS cases and 4% of the control cases) and calcium deposits (13% and 12% respectively) due to hyperemic involution of the fetal zone. The medulla, including the sustentacular cells (S 100 protein-positive cells) and chromaffin cells (chromogranin A-positive cells) was unchanged. Our results indicate that the few morphological alterations of the adrenal glands in SIDS cases are the effect of the underlying disease and not the cause of the sudden death.
The morphological structure and immunohistochemical reactions of 100 pituitaries from cases of SIDS children (58 males and 42 females, average age 5.34 +/- 3.12 months) were studied. Controls consisted of 19 pituitaries from children (14 males and 5 females, average age 5.63 +/- 2.52 months) with a clearly identifiable cause of death e.g. drowing or strangulation. The microscopical and immunohistochemical studies for identifying pituitary cell types revealed normally developed organs. Unspecific necroses and haemorrhages were observed in 2 cases of SIDS but in none of the controls. Hyperaemia was detected in 51 (30 male/21 female) cases of SIDS. No significant differences were found in the distribution of microfollicles (54%), cysts of the intermediate zone (14%), persistency of the Rathke's pouch (44%), Erdheim's squamous epithelium (8%) or heterotopic salivary glands (3%). The semiquantitative immunohistochemical evaluations of the different cell types showed no significant variations from the control group. The pattern of distribution of the intracytoplasmic vacuolisations of the ACTH and gonadotropic cells showed no significant differences. Folliculo-stellate cells were either not demonstrable--commensurate with age--or showed a normal distribution. The results for both study groups may be defined as consequences of terminal agony, but failed to reveal the cause of the sudden infant death.
The submandibular glands were investigated in 77 cases of SIDS using histology, immunohistochemistry (IHC), in situ hybridization (ISH) and PCR to detect cytomegalovirus (CMV) inclusion disease. The aim of the investigation was to establish the detection of CMV by PCR as a model for the detection of other types of virus by PCR, especially for the detection of viruses which affect the respiratory system of babies. In 14 cases the CMV detection was possible. Typical changes of duct cells associated with CMV infection were observed in 9 by histology and in 4 further cases by IHC. In comparison to these methods, ISH showed a higher sensitivity but only one more positive case was found. Theoretically the PCR method is more sensitive than ISH and more convenient from the practical aspect. Detection of CMV by PCR was possible in 10 out of 14 positive cases. All PCR positive cases were cases showing an active disease but not latent infection.
In 3 series paired volunteers were asked to gently scratch each other with the fingernails to produce superficial abrasions only of the stratum corneum. In a 4th series scratch marks were produced in the skin of cadavers but additionally including the deeper epidermal layers. Debris was removed using a thorough technique in series 1 and 2 and a careful technique in series 3. After DNA extraction, the debris was typed using the STR systems HUMACTBP2 (SE33), HUMTH01 (TC11) and HUMVWFA31 (VWA). In the material obtained from series 1 (i.e. scratching with no prior cleaning of the nails) and series 2 (i.e. cleaning of the nails prior to the experiment) the debris was removed with a sharp instrument and only the DNA pattern of the person who carried out the scratching could be detected. In the 3rd series extraneous material was removed very carefully from under the fingernails to avoid contamination with DNA from the nails. In 71% of these cases DNA patterns of the person who had been scratched or mixed DNA patterns of both persons could be detected. In the experiments with postmortem skin the DNA pattern of the cadaver could be detected in all cases. These results show that in crime cases where the perpetrator has been scratched by the victim, sufficient material can be obtained from under the fingernails for DNA typing if removal of the particles is carried out with sufficient care.
The proteins fibrin, fibrinogen, fibronectin and complement C5b-9 were investigated in mechanically damaged skeletal muscle. An accumulation of fibrin, fibrinogen and fibronectin could be observed immediately after intra-vital trauma in damaged fibre zones, later an accumulation at the torn edges of the fibres. The accumulation of complement C5b-9 began one hour after trauma. After post mortem trauma no positive reactions could be observed for any of the proteins. The degree of expression of these proteins can therefore be used to differentiate between vital and postmortem muscle damage as well as the estimation of wound age in the early antemortem time period.
VNTR polymorphisms were investigated for the possible individualisation of human urine samples with reference to doping cases in sport. Investigations were carried out with the RFLP single locus system YNH24/Hinf I and the PCR-VNTR systems Apo B and COL2A1 (AMPFLPs) as well as SE 33 and TC 11 (STRs). Urine samples were tested using 3 different volumes (10 ml, 1 ml and 0.1 ml) after 2 days and 2-5 weeks storage at 4 degrees C. Positive results were obtained for STR systems in all cases and with the smallest volume of urine tested (0.1 ml). The AMPFLP systems gave positive results in 4 out of 8 (Apo B) and 5 out of 8 (COL2A1) samples and YNH24 was successful in 1 out of 3 samples. Negative results were obtained for the AMPFLP systems and YNH24 after longer storage periods whereas the STRs were positive.
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The aims of the medico-legal investigation of wounds are a description of the wound morphology, the characterization of the force used and finally identification of the weapon. The demonstration of foreign particles, such as wood particles, paint fragments, synthetic materials, sand or gravel particles, powder residues and rust particles, in the depth of a wound or in the surrounding area can be of great value. In the present series of experiments the suitability of imaging methods (low energy X-ray imaging, direct X-ray magnification, nuclear magnetic resonance) for the detection of relevant foreign particles has been investigated.
The aims in medico-legal investigation of wounds are description of the wound morphology, the characterization of force applied and the identification of the weapon used. The detection of foreign bodies (paint fragments, glass particles, sand or gravel particles, rust particles and powder residues) in or around the wound can be of great value. The suitability of X-ray magnification for the detection of such foreign bodies was investigated in the present study. Other possible applications of this method in forensic practice are discussed.
The enzyme activity of phosphoglucomutase (PGM) has been investigated in red cell haemolysates from 142 individuals and compared to the sub-type as determined by isoelectric focusing. The 10 phenotypes showed significant differences in PGM-activity which indicates that there is a correlation between the level of activity and the isolelectric point of homozygotes. No indication of silent alleles or alleles with reduced activity was found in this collective.
55 bovine sera were tested for the occurrence of "natural" anti-Gm-antibodies. All bovine sera agglutinated human 0Rh + erythrocytes coated with different anti-Rh-sera. On the other hand only seven bovine sera showed a haemagglutination inhibition by pooled human gamma-globulin. Specific anti-Glm(2) antibodies have been found in one of the seven sera.