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Biomedical subjects

H Pfeiffer

Publications and source records attributed to H Pfeiffer.

At least 37 records · Page 2Linked to original sources

Accidental sharp force fatalities--beware of architectural glass, not knives.

In a retrospective evaluation of 799 consecutive autopsies of victims of sharp force performed between 1967 and 1996 in Münster and Berlin, only 18 cases (2.3%) were classified as accidents. A typical pattern was present in 15 cases: inebriated adults (1.4-3.6g/l BAC) fell into an architectural glass surface in the form of a door or window (12 cases), an aquarium, a mirrored wardrobe or a telephone cell. Another man fell into a large drinking glass. Many victims in this group showed multiple scratches, abrasions and superficial incisions as well as one or more deep tear/cut/puncture injury. The wound margins can be clean-cut or irregular and abraded. Death was mostly caused by exsanguination except for one case of air embolism and one case of cerebral injury. The fatal injuries were produced by large and dagger-like slivers of glass, by sharp-edged fragments of glass remaining inside the frame or by a portion of glass which fell down and acted in a way similar to a guillotine. Ordinary types of flat glass were involved in all cases and it is not until the impact that sharp fragments or cutting edges are produced. So the motion of the person commonly provides the force necessary for a fatal injury. This was also true for the remaining two cases not involving architectural glass. A farmer suffered cerebral injury from a fall into the long prong of a pitch fork, and the wounding agent was a knife in only one case. A man who stated that he had fallen into the knife in his hand died from pneumonia after inadequate therapy following a single stab injury to the periphery of the left lung and liver. Accidents where the victim is killed by his own knife therefore appear to be extremely rare.

Accidental Falls↗

The results of an mtDNA study of 1,200 inhabitants of a German village in comparison to other Caucasian databases and its relevance for forensic casework.

Mitochondrial DNA control region sequences were determined in 1,200 male volunteers from one village area of Lower Saxony for the hypervariable region 1 (HV1). The 154 variable positions found resulted in 460 different haplotypes with a haplotype diversity value of 0.98165. The number of different haplotypes showed a nearly linear increase with the number of individuals typed. The haplotype diversity approached saturation level at a value of approximately 0.981 after typing 400 individuals. Furthermore, the number of different haplotypes and the haplotype diversity were calculated for four short amplicons of HV1 in order to establish the most variable section with a high efficiency for forensic casework.

Adolescent↗

The evidential value of STRs. An analysis of exclusion cases.

In this study, a total of 191 cases with STR exclusions out of 591 paternity cases were analysed using 2 STR sets, i.e. (set a) 5 STRs in 462 cases with 150 exclusions and (set b) 9 STRs in 129 cases with 41 exclusions. Set (a) was associated with four exclusions on average while set (b) showed five exclusionary loci on average. Double exclusions were observed in 18 cases and further elaborated. Of these, 2 ended up with probabilities of paternity of 0.1% and 0.4%, respectively and with a random occurrence of the hypothesis "mutation" of 1:20,000 and 1:50,000, respectively, while all other cases were associated with much lower frequencies. The conclusion is that the evidential value of a set of highly polymorphic STRs applied in paternity cases is usually extremely high.

Genetic Markers↗

Immunohistochemical alterations after intravital and post-mortem traumatic myocardial damage.

Two series of experiments have been carried out on heart tissue for the occurrence of post-mortem and intravital myocardial damage. The first series was carried out on 18 porcine hearts collected immediately after the pigs were killed in a slaughterhouse. The hearts were subjected to stab wounds post-mortem, varying between 5 min and 140 min after death. The second series investigated were human hearts with intravital damage, i.e. 4 stab wounds, 1 gunshot, 13 contusions and ruptures. The time the trauma occurred before death varied between 0 and 30 min. The investigation comprised the four myocyte structural proteins myoglobin, FABP, troponin C, desmin and the three plasma proteins fibrinogen, fibronectin and C5b-9. Both series exhibited a variety of direct traumatic changes with a much broader zone in vital damage compared to post-mortem damage. In vital damage the zone of direct damage is in continuity with a further zone of indirect damage which is a three dimensional network. The signs of damage are contraction bands, depletion of structure antigens, contraction-associated accumulation of structure proteins, accumulation of plasma proteins on the cell surfaces and in the interstitium. In vital damages there is in addition an intrasarcolemmal accumulation of plasma proteins. The pattern of all damage is much broader and much more variegated in vital damage, thus vital damage can be clearly differentiated from post-mortem damage. bin, heart-type fatty acid binding protein (FABP), troponin, desmin, fibrinogen and fibronectin (Amberg 1995; Brinkmann et al. 1993; Glatz et al. 1994; Kleine et al. 1993; Leadbetter et al. 1989; Ortmann et al. 2000a, 2000b; Osuna et al. 1998; Thomsen and Held 1994, 1995). The aim of the present study was to elaborate reaction patterns of these marker proteins in mechanical heart trauma induced ante- and post-mortem and to explore their value for wound age determination in forensic casework.

Adolescent↗

Pitfalls in the analysis of mitochondrial DNA from ancient specimens and the consequences for forensic DNA analysis: the historical case of the putative heart of Louis XVII.

Amplification of mtDNA D-loop fragments with a length of 200 bp or more from ancient and even from fairly recent biological samples, can lead to erroneous results. This was clearly illustrated in our investigation of the putative heart of Louis XVII. By selecting different sets of primers which amplified shorter fragments of mtDNA (length 109 bp-201 bp), authentic polymorphisms could be visualised which remained undetected with the more classical primers for fragment sizes > 210 bp. Here we have extended those findings to other biological materials. A competitive PCR assay for quantitation of the amount of mtDNA for different fragment lengths, using a 10 bp deletion construct, was applied to ancient material and on a set of hairs of various ages of sampling (1966 up to the present). The results showed that DNA degradation started a few years after sampling. In the DNA extracts of the older hair shafts (1983-1995), the proportion of the number of short fragments to the number of long fragments is on average 4 in contrast to the most recent hair shafts. The numbers of amplifiable mtDNA copies for the hairs from 1975 and older were too small to show a clear difference. Use of long PCR fragments in such cases can yield misleading results. Use of short PCR fragments for the analysis of mtDNA from shed hair, in combination with a competitive PCR assay to determine the state of degradation, should improve the reliability of forensic mtDNA analysis considerably.

Base Sequence↗

The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.

We tested the hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE). We performed a systematic search for mutations in 46 familial IGE cases and detected three novel polymorphisms, however, allele frequencies did not differ significantly between patients and controls. A rare mutation (R1918H) was identified in one patient but was absent in one further affected family member. Thus, our results do not suggest a major role of SCN2A in the etiology of IGE.

Alleles↗

Patterns of recovery of autonomic dysfunctions and neurocognitive deficits in schizophrenics after acute psychotic episodes.

In this study, the authors aimed to identify patterns of autonomic dysfunction and neurocognitive deficit recovery. The authors performed laboratory assessments on 66 patients with schizophrenia immediately after an acute psychotic episode and 6, 12, and 18 months later. Shortly after the psychotic episode, the patients displayed cardiovascular hyperarousal at rest, cardiovascular and electrodermal hyporeactivity during 2 Continuous Performance Tasks (CPTs) and deficits in 2 behavioral CPT measures (i.e., reaction time and omission error rate) compared with 29 normal controls. In the subsequent postpsychotic course, changes indicative of a process of recovery occurred in all measurement areas, although with regard to autonomic hyporeactivity amelioration was limited to a subgroup of schizophrenics with complete and persistent symptomatic remission. Neurocognitive improvement in CPTs did not appear to depend on unimpaired autonomic reactivity mechanisms.

Acute Disease↗

Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette.

According to official historiography, the 10-year-old Louis XVII died in the Temple of Paris on June 8, 1795. However, public rumour spread the theory that Louis XVII escaped and that his descendants would be alive today. One such putative 'Louis XVII' was Carl Wilhelm Naundorff, who died in 1845 in Delft (the Netherlands). Comparative mitochondrial DNA (mtDNA) analysis gave evidence that his remains could not be identified as those of Louis XVII. In the present study, mtDNA analysis was performed on the heart of the young boy who died in the prison of Paris in 1795. In order to obtain the strongest evidence possible, two laboratories independently analysed the heart. The results showed that the consensus mtDNA sequence of the heart was identical to that of the maternal relatives of Louis XVII.

DNA, Mitochondrial↗

Repair of inguinal hernias using the mesh technique during extraperitoneal pelvic lymph node dissection.

PURPOSE: This article describes our experience of using a totally extraperitoneal approach for endoscopic pelvic lymphadenectomy and inguinal hernia repair with the mesh technique in one procedure. MATERIALS AND METHODS: A total of 52 patients underwent modified pelvic lymph node dissection for the staging of prostate cancer. Eight of them had hernia defects; 1 was recurrent. Five patients with direct and 3 patients with indirect inguinal hernias were treated by totally extraperitoneal hernia repair with the placement of a mesh measuring at least 10 x 15 cm (prolene mesh with incision and flap). RESULTS: The mean duration of the lymphadenectomy itself was decreased from 150 min (first 20 patients) to 70 min (n = 21-52). The mean additional procedure time for hernioplasty was 15 min. The overall lymph node-positive rate was 9.6%. The complication rate was 7.7%. Four patients developed symptomatic lymphoceles, 1 of whom developed deep venous thrombosis. No complications occurred which were attributed to hernia repair. Morbidity did not rise, and hospitalization time did not increase for the patients who underwent hernioplasty. There were no recurrences or neuralgias on follow-up up to 2 years. CONCLUSIONS: By avoiding entry into the peritoneal cavity, the extraperitoneal approach obviates intra-abdominal complications (ileus, bowel injury, peritonitis) in both techniques. The extraperitoneal approach for pelvic lymph node dissection allows concomitant inguinal hernia to be repaired with low morbidity and within an acceptable operating time.

Aged↗

Demonstration of myocardial necrosis in the presence of advanced putrefaction.

Samples of heart tissue were investigated in two series for the detectability of myocardial necrosis after artificial and natural putrefaction, respectively. In the first series heart tissue with and without infarction was artificially subjected to humid and dry autolysis and putrefaction. In the second investigation heart tissue was obtained from exhumed bodies after periods of burial ranging between 10 and 929 days. Besides histology a variety of immunohistochemical markers were applied and C5b-9 gave positive results even after long periods of artificial and natural putrefaction. From the methods tested, this was by far the most sensitive method with a high robustness against putrefaction. NP57, which indicates neutrophilic leucocytes could be demonstrated considerably longer after humid putrefaction than after dry putrefaction. The time limits of detection were considerably longer than for H&E. These two methods are the methods of choice for the detection of myocardial infarction and leucocyte infiltration in advanced stages of putrefaction.

Adult↗

A comparative study on the immunohistochemical detection of early myocardial damage.

The study was undertaken to evaluate the kinetics and distribution patterns of several immunohistochemical markers in ischemically and hypoxically damaged myocardium. The myocardium of 8 cases of acute myocardial infarction (AMI), 8 cases of diagnosed acute cardiac death (ACD) and 12 cases of acute exogenic hypoxia (AEH) due to CO poisoning or hanging were analysed for depletion of the cardiac antigens FABP, troponin C and T, desmin and myoglobin, loss of CD59 and deposition of the plasma antigens fibrinogen, fibronectin and the terminal complement complex C5b-9. The visualisation of the terminal complement complex was positive as early as 30 min after onset of symptoms of AMI. Depletion of cellular antigens started earlier than the deposition of plasma antigens. The deposition of fibronectin and fibrinogen began earlier than the detection of C5b-9 but later than the depletion of the cellular antigens. Our findings indicate that for the immunohistochemical detection of very early myocardial damage, the depletion of myoglobin is at least of the same rank or better than depletion of FABP and troponin.

Adolescent↗

Demonstration and semi-quantification of mtDNA from human dentine and its relation to age.

In order to study if mitochondrial DNA (mtDNA) could be retrieved from isolated human dentine, small pieces of dentine were cut out from the central part of the apical half of wisdom teeth from 21 individuals aged 15 to 85 years. The dental pulp was used as a control. After extraction, amplification and agarose gel electrophoresis the amount of mtDNA was semi-quantified from the intensity of the stained bands in the gel. Mitochondrial DNA was retrieved from all samples and the sequences were identical in pulp and dentine from each individual. There was a clear age-dependent decrease in the amount of amplified mtDNA. Since the odontoblastic processes in the apical dentine undergo degeneration with age and the dentinal tubules subsequently become occluded with calcium phosphate crystals, the conclusion was drawn that even after dissolution of the odontoblastic processes, at least remains of the mtDNA are trapped in the dentine. This well protected mtDNA could thus be regarded a good source of DNA in identification cases with severe degradation.

Adolescent↗

Influence of soil storage and exposure period on DNA recovery from teeth.

A study was performed to determine the influence of garden soil on the deoxyribonucleic acid (DNA) recovery from teeth depending on the duration of storage. In the first series 24 teeth supplied by dentists were exposed to garden soil storage for a maximum of 18 weeks. Selected samples were excavated for DNA extraction at time intervals of 6, 12 and 18 weeks. For the second series 20 teeth were stored for one year in garden soil. Following phenol/chloroform extraction with decalcification (first series) and without decalcification prior to extraction (second series) DNA was quantified, amplified using the polymerase chain reaction (PCR) for the tandem repeat loci D1S80, tyrosine hydroxylase, intron 1 (TH01) and Von Willebrand factor, intron A (VWA) (first series), human alpha fibrinogen (FGA) (second series) and sequenced in the hypervariable regions 1 and 2 (HV1, HV2) of the mitochondrial DNA (second series). The DNA concentration of the extracts after the first 6 weeks in soil was reduced by more than 90%. Amplification and direct sequencing of HV1 and HV2 of the mitochondrial genome was the most successful DNA technique.

Blood Stains↗

Mitochondrial DNA in human hair shafts--existence of intra-individual differences?

The sequences of the hypervariable region 1 (HV1) of the mitochondrial DNA control region from multiple hair shafts from 10 unrelated individuals were compared to determine the frequency of differences in hairs from one individual. The extraction method described herein showed an average success rate of 67% for all 150 hair shafts tested in HV1. The mtDNA sequences from the hair shafts matched the sequences from the corresponding blood and saliva samples taken from the same donor and no evidence of heteroplasmy was found. The results emphasize the reliability of DNA extraction and mtDNA typing from human hair shafts for forensic purposes.

DNA, Mitochondrial↗

Inflammation of the cardiac conduction system in a case of hyperthyroidism.

A 37-year-old female showed signs of hyperthyroidism 2 weeks before death after a partial thyroidectomy was carried out 15 years previously. An examination 3 days before death revealed a normal blood cell count, an increased level of thyroidal hormones, sinus tachycardia and a high blood pressure of 170/90 mm Hg. A hyperthyroidism was diagnosed and therapy with carbimazol (2 x 10 mg) was started but 2 days later fever and chill occurred and before death short phases of unconsciousness and dyspnoea. The autopsy findings showed an interstitial inflammation of the AV-node, the His-bundle and its branches which can correlate with typical ECG changes in hyperthyroidism.

Adult↗

Mitochondrial DNA typing from human axillary, pubic and head hair shafts - success rates and sequence comparisons.

The analysis of mitochondrial DNA (mtDNA) from shed hairs has gained high importance in forensic casework since telogen hairs are one of the most common types of evidence left at the crime scene. In this systematic study of hair shafts from 20 individuals, the correlation of mtDNA recovery with hair morphology (length, diameter, volume, colour), with sex, and with body localisation (head, armpit, pubis) was investigated. The highest average success rate of hypervariable region 1 (HV 1) sequencing was found in head hair shafts (75%) followed by pubic (66%) and axillary hair shafts (52%). No statistically significant correlation between morphological parameters or sex and the success rate of sequencing was found. MtDNA sequences of buccal cells, head, pubic and axillary hair shafts did not show intraindividual differences. Heteroplasmic base positions were observed neither in the hair shafts nor in control samples of buccal cells.

Adult↗

Expanding the forensic German mitochondrial DNA control region database: genetic diversity as a function of sample size and microgeography.

Mitochondrial DNA control region sequences were determined in 109 unrelated German Caucasoid individuals from north west Germany for both hypervariable regions 1 (HV1) and 2 (HV2) and 100 polymorphic nucleotide positions (nps) were found, 63 in HV1 and 37 in HV2. A total of 100 different mtDNA lineages was revealed, of which 7 were shared by 2 individuals and 1 by 3 individuals. The probability of drawing a HV1 sequence match within the north west Germans or within published sets of south Germans and west Austrians is similar (within a factor of 2) to drawing a sequence match between any two of these three population samples. Furthermore, HV1 sequences of 700 male inhabitants of one village in Lower Saxony were generated and these showed a nearly linear increase of the number of different haplotypes with increasing number of individuals, demonstrating that the commonly used haplotype diversity measure (Nei 1987) for population samples tends to underestimate mtDNA diversity in the actual population.

Austria↗