[Reddish discoloration of the vascular intima in charred bodies]. / Zur rötlichen Verfärbung der Gefäßintima bei Brandleichen.

During the autopsy of fire victims, one often sees intensive reddening of the inner vascular layers resembling changes due to putrefaction. To determine the frequency of this phenomenon and the circumstances under which it occurs, in particular the presence of putrescence, signs of vitality and the extent of destruction by the fire, the fire fatalities autopsied at the Institutes of Legal Medicine in Freiburg, Halle and Würzburg were analyzed. In the concrete study, 259 fire deaths were investigated retrospectively and 21 prospectively. The study material included 191 males and 68 females aged 0 to 93 years. Vital exposure to the fire was found in 70%, perimortal exposure in 23 % and postmortem exposure in 7% of the cases. Red discoloration of the intima of the central vessels was seen in 106 victims (41%). This finding is most likely caused by postmortem heat-induced hemolysis, which occurs when the temperature in the body rises above 52 °C due to the effect of external heat. Therefore, a reddish discoloration of the intima cannot be regarded as sign of vitality.

Collision victim travels for "seven kilometres" on top of the car that hit him.

CASE REPORT: A 26-year-old man, after a drinking binge, drove into a tram building site and collided with a track-grinding machine which left a fist-size hole in his windscreen. He then hit a construction worker who was catapulted onto the car roof. The worker held on to the antenna and the windscreen hole, while the car drove on for 7 km, reaching speeds of 90 km h(-1). The victim suffered several fractures and survived with relatively little consequential damage. The investigation showed the driver to have been under the influence of alcohol and cannabis. In trial, he claimed loss of memory and stated that he had noticed neither the accident nor the man on his car roof.

["Natural" death of a person under the care of a custodian]. / Der "natürliche" Tod einer Betreuten.

An ambulance service doctor was called to the death of a 76-year-old woman and attested cardiac arrest and psycho-organic brain syndrome as the cause of death on the death certificate. At the second external examination mandatory before cremation, extensive hematomas were detected on the right thorax and multiple haematomas in the face and on the forehead. The autopsy initially ordered by the public health officer revealed serial rib fractures and a fractured skull. After notifying the prosecutor, a forensic autopsy was ordered and death was found to have been caused by fat embolism following massive blunt force to the thorax with serial rib fractures and haematopneumothorax. After that, the adopted son, who had been appointed care custodian for the woman, and his wife were suspected, because they had given contradictory explanations for the injuries. At first, they were only suspected of failure to render assistance, but in the end they were both charged with murder. Only because of the second external examination prescribed by the law still in force could the errors of the improper first external examination be corrected.

An avoidable death in police custody?

An obviously inebriated 36-year-old man was found in a helpless condition on a pavement. When he was brought to a police station, a doctor certified the individual to be fit to be held in custody. He was unresponsive when the officers tried to wake him the next morning but was allowed to sleep on until he was found dead in his cell at mid day. An autopsy revealed as cause of death an epidural hematoma and cerebral contusion with fracture of the calvarium. The expert report stressed the point that the monitoring of the state of consciousness had been objectively insufficient throughout the entire time period, both in terms of frequency as well as in terms of the monitoring methods. However, neither the police officers involved nor the doctor, was subjected to prosecution mainly because of the high burden of proof required by German criminal law. The article will discuss conclusions for the avoidance of such deaths (such as training of police officers, legal regulations on monitoring procedures, etc).

Deaths in German police custody.

BACKGROUND: According to the ministries of the interior of all German federal states, a total of 128 persons died in police custody between 1993 and 2003. METHODS: An inquiry to the forensic university institutes and regional court doctors showed that, within this period, post mortems were conducted in 75 of these cases. We were able to include 60 of these 75 cases in our evaluation and deficiency analysis, which were carried out under assessment of the post mortem records and partly by making use of the subsequent medical expert reports and the results of criminal investigation. RESULTS: The most frequent cause of death was acute alcoholic intoxication, followed by cerebrocranial traumata, internal diseases and fatal poisonings with medical or illegal drugs. In 23 cases, the person taken into custody had been seen by a physician in order to determine the person's fitness for detention in custody. Of these 23 cases, 15 (65.2%) revealed deficiencies in various areas of medical activity. Police officers had made mistakes in 33 of the 60 cases (55.0%), mainly because they failed to seek medical assistance or did not monitor the person with sufficient frequency. Our retrospective study however showed that in 16 cases (26.6%) death was very probably not preventable even if the person had received all necessary care. CONCLUSIONS: Our study gives recommendations on how to improve various measures to increase the quality of medical attention given to persons taken into police custody.

"Paterniplex", a highly discriminative decaplex STR multiplex tailored for investigating special problems in paternity testing.

The goal of the study was to develop a STR multiplex ("Paterniplex") that is--as supplement to commercially available multiplex kits like the Identifiler kit (Applied Biosystems, Foster City, CA)--suitable for solving complex paternity cases such as deficiency cases or cases with mutations. The Paterniplex comprises the nine highly polymorphic STRs D8S1132, D7S1517, D10S2325, D12S391, Se33, D17S976, Penta E, Penta D and FGA in addition to Amelogenin as sex determination marker. The loci were selected because of their high degree of polymorphism (higher than that of the widely used TH01 marker). Only one locus, FGA, is shared with the Identifiler kit to avoid sample mix up. The study further gives details on the population genetics of the loci in a German Caucasian population (allelic distribution, Hardy-Weinberg Equilibrium and forensic efficiency markers such as the Discriminating Power) and three examples for cases that could not be solved using commercially available kits alone, but using the Paterniplex in addition to a commercial kit.

Fetal microchimerism in Hashimoto's thyroiditis: a quantitative approach.

OBJECTIVE: Fetal microchimerism (MCH) has been implicated in the etiology of autoimmune diseases such as autoimmune thyroiditis. The goal of the study was to reliably estimate the number of fetal engrafted cells and to further investigate factors influencing the development of MCH. METHODS: Quantitative real-time PCR amplification using Y-chromosome specific (DYS14) and autosomal (beta-globin) loci was performed on thyroid gland specimens. Furthermore, we compared the distribution of ABO and rhesus systems in mothers with and without blood MCH in relation to the blood groups of the children. RESULTS: MCH was detected in eight of 21 Hashimoto patients in a frequency range of 15 to 4900 male cells per 100,000 total cells (median 97 cells), but in none of 17 healthy thyroid glands. In a third group, consisting of 18 nodular goiters, only one sample was positive (182 male cells/100,000 total cells). No woman who had not had a prior pregnancy with a male fetus showed MCH. Mothers both with and without MCH showed the same rate of mother/child incompatibilities for the ABO and rhesus systems. CONCLUSIONS: The percentage of microchimeric cells varies to a great extent in Hashimoto's thyroiditis, and this phenomenon can occur in nodular goiter in rare instances, but it appears to be absent from normal thyroid glands. Nevertheless, the biological significance of MCH remains unclear. Moreover, we have concluded that the tested blood group systems (as opposed to their role in graft vs host disease after transplantations) have no effect on fetal MCH.

Y-chromosomal STR haplotype analysis reveals surname-associated strata in the East-German population.

In human populations, the correct historical interpretation of a genetic structure is often hampered by an almost inherent inability to differentiate between ancient and more recent influences upon extant gene pools. One method to trace recent population movements is the analysis of surnames, which, at least in Central Europe, can be thought of as traits 'linked' to the Y chromosome. Illegitimacy, extramarital birth and changes of surnames may have substantially obscured this linkage. In order to assess the actual extent of correlation between surnames and Y-chromosomal haplotypes in Central Europe, we typed Y-chromosomal short tandem repeat markers in 419 German males from Halle. These individuals were subdivided into three groups according to the origin of their respective surname, namely German (G), Slavic (S) or 'Mixed' (M). The distribution of the haplotypes was compared by Analysis of Molecular Variance. While the M group was indistinguishable from group G (PhiST=-0.0008, P>0.5), a highly significant difference (PhiST=0.0277, P<0.001) was observed between the S group and the combined G+M group. This surprisingly strong differentiation is comparable to that of European populations of much larger geographic and linguistic difference. In view of the major migration from Slavic countries into Germany in the 19th century, it appears likely that the observed concurrence of Slavic surnames and Y chromosomes is of a recent rather than an early origin. Our results suggest that surnames may provide a simple means to stratify, and thereby to render more efficient, Y-chromosomal analyses of Central Europeans that target more ancient events.

Y chromosome polymorphisms and haplotypes in South Saxony-Anhalt (Germany).

We have performed a population genetic study on a population from South Saxony-Anhalt, Germany. The allele distributions of the systems DYS19, DYS385, DYS389I/II DYS390, DYS391, DYS392 and DYS393 were investigated in a sample of 234 unrelated males. PCR products were detected using capillary electrophoresis on the ABI Prism 310 DNA sequencer. Two hundred and six different haplotypes were obtained. The haplotype diversity was 0.8915. Using AMOVA significant differences were observed to populations from Poland and Croatia.

TH01, a tetrameric short tandem repeat locus in the tyrosine hydroxylase gene: association with myocardial hypertrophy and death from myocardial infarction?

TH01 is a tetrameric short tandem repeat locus located in intron 01 of the tyrosine hydroxylase gene. The tyrosine hydroxylase catalyzes the hydroxylation of L-tyrosine to L-DOPA and is the rate limiting enzyme in the synthesis of catecholamines like noradrenaline or adrenaline, which are pivotal in the regulation of blood pressure. In a clinical study a strong correlation between alleles *9.3 and *10 and essential hypertension was observed ([2] Hypertension 32: 676-682). To further investigate this association, we typed TH01 in 296 autopsy cases and correlated the genotypes to the heart weight as parameter for myocardial hypertrophy. No significant correlation was observed. Moreover, dividing the studied cases into 2 groups, one including 172 casualties from hypertension-associated diseases (myocardial infarction, left heart failure, aortic aneurysm, spontaneous intracerebral bleeding and cerebral infarction) and one consisting of 124 cases of death unrelated to hypertension, revealed similar allelic frequencies for both groups. Our data thus suggest that TH01 long alleles appear not to lead to a significant increase in the incidence of myocardial hypertrophy or other hypertension associated diseases. This could be explained by a relatively small impact of the TH01 genotype on the blood pressure or by counteraction of another mechanism related to catecholamines and their effect on the human body.

Haplotype studies support slippage as the mechanism of germline mutations in short tandem repeats.

Germline mutations of human short tandem repeat (STR) loci are expansions or contractions of repeat arrays which are not well understood in terms of the mechanism(s) underlying such mutations. Although polymerase slippage is generally accepted as a mechanism capable to explain most features of such mutations, it is still possible that unequal crossing over plays some role in those events, as most studies in humans could not exclude unequal crossing over (UCO). Crossing over can be studied by analyzing haplotypes using flanking markers. To check for UCO in mutations, we have analyzed 150 paternity cases for which more than the usual trio (mother, child, and father) were available for testing by analyzing 16 STR loci. In a total of 4900 parent-child allele transfers four mutations were observed at different loci (D8S1179, D18S51, D21S11, and SE33/ACTBP2). To identify the mutated allele and to check for UCO, we typed at least four informative loci flanking the mutated locus and used the pedigree data to establish haplotypes. By doing so we were able to exclude UCO in each case. Moreover, we were able to identify the mutations as one-repeat contractions/expansions. Our data thus support slippage as the mechanism of germline mutations in STRs.

[A hopeless case?]. / Ein aussichtsloser Fall?

In a hollow covered with earth, a herb gatherer discovered a severely decomposed corpse mutilated by scavenging animals. Only small areas of the skin had remained intact. A conspicuous tattoo could still be distinguished on the left upper arm. Despite concrete evidence of violence (fracture in the occipital bone, subdural hemorrhage with a volume of 20 ml), the exact cause of death could no longer be established. Police enquiries identified a person in whom such a conspicuous tattoo had been photographed in an earlier criminal case. Eventually, the deceased person could be identified by DNA analysis of a stored blood alcohol specimen. Considered together, the autopsy findings and the results of the investigation of traces of blood on the putative tool used in the crime indicated that the man had been struck dead and the body had afterwards been buried in the wood. Although the prospects of success had been initially slight, it was not only possible to identify the victim, but also to reconstruct the crime.