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Biomedical subjects

B Brinkmann

Publications and source records attributed to B Brinkmann.

At least 73 records · Page 4Linked to original sources
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

Paternity testing using Y-STR haplotypes: assigning a probability for paternity in cases of mutations.

In parentage testing with male children, Y-chromosomal STR evidence is gaining more and more importance. In some cases, multilocus haplotypes of related persons can differ at a single locus due to a mutation. In this work, a likelihood approach is presented for the calculation of a probability for paternity under consideration of a single mutation event on the Y-chromosome. The new methodology is applied to two case examples.

Child↗
PubMed2001

Trajectory reconstruction from trace evidence on spent bullets. II. Are tissue deposits eliminated by subsequent impacts?

STR-based individualisation of biological deposits on bullets after perforation of tissue, can identify the person injured or killed by a particular bullet and comparison with the firearms used can identify the weapon and thus possibly the person who did the shooting. In this study, the effect of subsequent impacts on intermediate targets such as loss of cells was investigated by amplification of mitochondrial (mt) DNA. Bovine tissue was perforated and the 9 mm Luger FMJ bullets were recovered from the bullet collector. The mt cytochrome-b (cyt-b) gene could be amplified by the polymerase chain reaction (PCR) from 14 out of 15 bullets. Examination with a scanning electron microscope (SEM) and an energy-dispersive X-ray spectrometer (EDS) demonstrated the presence of minute dried tissue deposits on all bullets (n = 10) but was not able to establish preferential locations. In a series of 25 gunshots, various intermediate targets (glass, wood, car metal, gypsum board, asphalt) were perforated/impacted following perforation of tissue and the cyt-b gene could be typed from all bullets. It is concluded that subsequent impacts on intermediate targets do not eliminate enough biological deposits to render DNA analysis impossible and that the amplification of mtDNA is a useful additional method.

Animals↗
PubMed2001

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↗
PubMed2001

An annotated mtDNA database.

We have compiled a database of mitochondrial DNA (mtDNA) control region, hypervariable regions 1 (HVR1) and 2 (HVR2) sequences of a total of 14,138 individuals compiled from 103 mtDNA publications before 1 January 2000, 13 data sets published in 2000 and 2001 and 2 unpublished data sets of Iraqi Kurds and Indians from Kerala. By contacting the authors and by other means, we have confirmed and corrected sequence errors, eliminated duplications and harmonised the sequence format. These changes affected all but 26 of the 116 publications. Furthermore, we have implemented a geographic information system ("mtradius") which searches for closest matches to a given mtDNA control region sequence and displays them on a geographic map. A potential application is to estimate a chance matching probability when a forensic stain and a suspect have an identical mtDNA sequence: we suggest that the geographic area with the highest frequency of closely related mtDNA sequence types may be used to define a reference population to give the suspect the maximum benefit of doubt in accordance with the ceiling principle.

DNA Fingerprinting↗
PubMed2001

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↗
PubMed2001

DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs.

During the past few years the DNA commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area, namely Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods.

Alleles↗
PubMed2001

Neglect-associated fatal Marchiafava-Bignami disease in a non-alcoholic woman.

We present the case of an 80-year-old malnourished and non-alcoholic woman who died from neglect-associated Marchiafava-Bignami disease, an illness usually almost exclusively occurring in male alcoholics. The patient had been bedridden for several months and had been looked after by her son. The patient was admitted to hospital in an extremely poor care condition suffering from severe exsiccosis, pressure sores and marasmus and died shortly afterwards. The initial post-mortem examination could not establish a definite cause of death, however, upon neuropathological examination a necrotising cystic lesion in the left cingulate gyrus as well as a central necrosis in the corpus callosum indicative of Marchiafava-Bignami disease were revealed. This is the first known case of Marchiafava-Bignami disease in a non-alcoholic woman and the first case in the forensic setting of neglect.

Aged↗
PubMed2001

Proof of a gunshot wound and its delayed effects 54 years post injury.

In 1945 a 6-year-old girl received a tangential gunshot injury to the left posterior inferior skull. After hospitalisation because of septicemia she was unable to walk for several months. Since 1967 she had been repeatedly applying for compensation because of pseudoneurasthenia and residual ataxia and many medical examinations were performed including X-ray, CT and MRI. Although certain objective findings (e. g. cerebellar atrophy) could be verified, a causal connection between the gunshot injury and the clinical findings could not be established. Therefore previous investigators concluded on a vascular origin of the disease. During the present re-examination of the patient, the authors found patch-like scars at the left posterior inferior skull base and behind the left ear, a cord-like scar formation in the subcutaneous tissue, connecting both skin scars, a gutter-like defect in the left occipital base of the skull and an indention of the left mastoid process, both again in line between the skin scars and a large defect of the left cerebellar hemisphere. It could be concluded with certainty that the anatomical findings and the clicinal symptoms were the direct result of a gunshot injury. Previous investigations had failed because of deficient investigations and techniques. In addition to an anatomical reconstruction, three dimensional reconstructions from CT scans proved most helpful.

Ataxia↗
PubMed2001

[CT-computer-template-assisted planning of implant and magnet position in epi-prosthetic management of facial defects].

BACKGROUND: The aesthetic result of a prosthetic reconstruction in the facial area depends on precise, long-term stable positioning of the facial prosthesis. For fixation of the facial prosthesis and contouring of the soft tissue, good long-term success can be achieved by implant-magnet systems. The precise positioning of the implants and magnets when only little bone is available is difficult and without any planning is often not possible. COMPUTER EVALUATION: Computer-supported evaluation of CT data with the aid of CT and drill templates can optimise the planning and carrying out of surgery. This procedure is illustrated with reference to the treatment of a patient following obital exenteration due to an embryonic rhabdomyosarcoma. The programs SIM/Plant and coDiagnostiX were compared with one another when carrying out the CT evaluation and planning the orbital prosthesis. In so doing, the great advantage of the definition of the CT window (grey levels), the freely definable panorama sections and cross-sections, as well as the three-dimensional, spatial representation using the programme coDiagnostiX on a conventional PC are made clear. The results of planning can be applied and implemented during surgery, with the aid of the CT and drill templates. DISCUSSION: The CT computer template-supported procedure is suitable for routine clinical use and can be recommended for planning of implant-fixed facial prosthesis in the orbital area when little bone is available or in the case of difficult anatomical relationships.

Adolescent↗
PubMed2001

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392.

Deviation from the stepwise mutation model (SMM) at specific human microsatellite loci has implications for population genetic and forensic investigations. In the present study, data on six Y chromosome-specific microsatellites were pooled for 455 paternally unrelated males from six Middle Eastern populations. All chromosomes were assigned to three haplogroups defined by six binary polymorphisms. Two of the microsatellite loci tested, DYS388 and DYS392, displayed marked haplogroup-specific differences in their allele variability. A bimodal distribution of short and long alleles was observed for DYS388 in haplogroup 1 and for DYS392 in haplogroups 1 and 2. Further investigation showed that the short/long alleles segregated almost completely between genealogically distinct haplogroups defined by additional binary markers. Thus, these two loci have a discriminatory power similar to a binary polymorphism. DYS388 was characterised by an extremely low mutation rate in haplogroups 2 and 3, as was DYS392 in haplogroup 3. Sequence analysis of the repeat regions at the two loci revealed no irregularities, indicating that the triplet expansion in these loci is not controlled by sequence variation at the repeat level. A high frequency of long DYS388 alleles has, so far, been found only in populations originating in the Middle East, suggesting that this microsatellite is useful as a region-specific marker.

Alleles↗
PubMed2001

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↗
PubMed2001

Low frequency of p53 and ras mutations in bile of patients with hepato-biliary disease: a prospective study in more than 100 patients.

The diagnosis of biliary disease, namely malignant disorders, is frequently hampered by the inconclusive cytology. We investigated prospectively the frequency of molecular changes in p53 and ras compared with cytology in patients with primary or secondary hepato-biliary disease. We investigated 118 consecutive patients, aged 24-89 with the following clinical diagnoses: choledocho/cholecystolithiasis (28), cholangiocellular carcinoma (21), gall bladder tumor (8), liver metastasis (3), autoimmune disease (8), chronic pancreatitis (16), pancreatic carcinoma (11), papillary disease (4), hepatic cirrhosis (6), cholangitis (2), anomalies (2), and normal (9). Bile was aspirated during routine endoscopic retrograde cholangio pancreatography (ERCP) or percutaneous transhepatic cholangiography (PTC). DNA was prepared freshly from a native aliquot. p53 mutations were detected by polymerase chain reaction (PCR) for exons 5 through 8 followed by TGGE. PCR for ras mutations was performed as RFLP-PCR with sequencing. In four cases, mutations in p53 could be found in exons 6 and 7. Twenty-two samples showed ras mutations; ras mutations were found in choledocholithiasis (4/28), bile duct (5/21), gall bladder (3/8) and pancreatic (1/11) carcinoma, liver metastasis (3/3), ulcerative colitis (2/3), PSC (1/2), and chronic pancreatitis (1/16). Cytology was clearly positive in seven cases, suspicious in three other, inconclusive in six, and negative in the rest. The molecular analysis resulted in a sensitivity of 33% and specificity of 87%, respectively, for the diagnosis of a malignant condition. PCR for p53 and ras mutations may aid the diagnosis of primary and secondary (metastatic) hepatobiliary disease if a malignant condition of the bile ducts and the liver is suspected and cytology is inconclusive or negative. However, the incidence of p53 and ras mutations in bile seems less frequent than in other malignant conditions of the gastrointestinal tract and the pancreas and lower than in tissue, leaving a poor sensitivity and specificity. Nevertheless, the presence of a p53 and/or ras mutation per se supports a clinical suspicion of malignancy, even when the conventional cytology is negative or inconclusive.

Adult↗
PubMed2001

p53 and K-ras mutations in pancreatic juice samples from patients with chronic pancreatitis.

BACKGROUND: Mutations in p53 and ras genes are frequent in pancreatic carcinoma. Several ras mutations are consistently detected in the pancreatic juice from patients with chronic pancreatitis. The p53 gene mutations have been detected occasionally in chronic pancreatitis tissue. It was the aim of this study to evaluate the presence and clinical significance of p53 and ras mutations in clinical pancreatic juice samples from patients with chronic pancreatitis. METHODS: Pancreatic juice was obtained from 66 patients with chronic pancreatitis and no evidence of pancreatic carcinoma (51 men, 15 women; age 17-86 years [mean 49.6 +/- 12.9]). Patients were followed prospectively for 26 +/- 3 (4-54) months. Detection of p53 gene mutations was by temperature gradient gel electrophoresis (TGGE) and single strand conformation polymorphism (SSCP) for exons 5-8. Analysis of ras mutations was performed by SSCP/polymerase chain reaction, restriction fragment length polymorphism/polymerase chain reaction. All mutations were confirmed by sequencing. RESULTS: Five of 66 (7.5%) pancreatic juice samples contained p53 mutations, and ras mutations were detected in 6 cases (9%). Cytology was negative in all cases. No pancreatic carcinoma developed during follow-up and neither cancer cells nor preneoplastic lesions could be detected histologically in resected specimens. Although no correlation between p53 mutations and duration of pancreatitis or drinking habits was found, K-ras mutations correlated with both heavy smoking and severity of the disease. CONCLUSION: p53 and ras mutations can be detected in a minority of pancreatic juice samples from patients with chronic pancreatitis in the absence of malignancy.

Adolescent↗