Is the amelogenin sex test valid?
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Amelogenin↗
Biomedical subjects
B Brinkmann
Publications and source records attributed to B Brinkmann.
Death due to intravenous application of enteral feed.
A 6-month-old male infant was treated with intravenous infusions and enteral feed via a naso-gastric tube. Accidentally, enteral feed containing pureed carrots diluted with water was injected intravenously and the child died immediately. Carrot material could be found in the pulmonary blood vessels and in various organs of the systemic circulation.
Blood Vessels↗
Allele frequency data for 16 STR loci in the Vietnamese population.
The short tandem repeat systems ACTBP2, D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, VWA, D8S1179, TPOX and FGA were studied in a population sample from Vietnam (178 individuals, mainly from the Hanoi area). The 16 loci met Hardy-Weinberg expectations and possess a combined power of discrimination greater than 0.9999999999999999998 and a combined power of exclusion greater than 0.99999994 in this Vietnamese population.
Alleles↗
Immunohistochemical detection of an ABO-incompatible blood transfusion in formalin-fixed tissue.
A fatal incident of an ABO incompatible erythrocyte transfusion in a 75-year-old male patient who suffered from dilated cardiomyopathy with cardiac failure is reported. Blood group A red cells were transfused to the unintended recipient who had blood group O. The patient died 45 min after the incompatible erythrocyte transfusion. The way the incident happened remained unclear and the immunohistochemical detection of ABO incompatible erythrocytes in formaldehyde-fixed paraffin-embedded kidney, lung, liver and spleen tissue provided the only material evidence of the transfusion error.
ABO Blood-Group System↗
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↗
[Success rate and complications of primary, laser-assisted uvuloplasty in patients with snoring].
MATERIALS AND METHODS: We performed primary laser-assisted uvulopalatoplasty (LAUP) with a CO2 laser (20 W) on 152 patients (group C, M:145, F:7, mean AHI 9) with snoring under local anesthesia (group C1, laser CW mode: n = 101 and group C2.1, laser WDH mode: n = 31) and under intranasal intubation anesthesia (group C2.2, laser WDH mode: n = 20). The indication was based on recently established classification criteria (CC). In group C2.2 the correction was made in ten cases using the new version of LAUP (TR, tangential reduction). The follow-up examination ensued 1 year after the operation. RESULTS: Serious and lasting complications did not arise. The mean length of pain was 7.8 days and was less when using the laser in the WDH mode (pulse 0.4 s, pause 0.2 s, 20 W) (group C2.1, 6.9 days; group C2.2, 5.1 days). The patients reported no bothersome snoring in 88% of the cases and no snoring in 43% of the cases. The rate of no snoring was considerably higher in patients of the C2 groups (60%). CONCLUSION: The results show that by strict adherence to the new classification criteria, using lasers in the WDH mode, and using the TR method under intranasal intubation anesthesia better effects could be achieved than those published in the current literature. Significant complications did not occur. Under these conditions, a broader indication for LAUP as a so-called secondary LAUP as an integral part of step-by-step combination therapy with nCPAP and/or a mandibular protruding device has been verified and can be seen as therapeutically effective.
Adult↗
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↗
Considerations by the European DNA profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles.
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DNA Fingerprinting↗
A STR mutation in a heteropaternal twin case.
A heteropaternal male twin case with two men being alleged fathers was investigated as requested by the Court. Up to 37 PCR-based polymorphic DNA systems were studied in this case which was complicated by a paternal ACTBP2 mutation detected in one twin. This is the first report on a STR mutation in a double paternity case where both biological fathers were indisputably identified. The STR systems enable the resolution of these complex genetic relationships even in a case where a mutation in one STR locus was encountered.
DNA Fingerprinting↗
The Y chromosome pool of Jews as part of the genetic landscape of the Middle East.
A sample of 526 Y chromosomes representing six Middle Eastern populations (Ashkenazi, Sephardic, and Kurdish Jews from Israel; Muslim Kurds; Muslim Arabs from Israel and the Palestinian Authority Area; and Bedouin from the Negev) was analyzed for 13 binary polymorphisms and six microsatellite loci. The investigation of the genetic relationship among three Jewish communities revealed that Kurdish and Sephardic Jews were indistinguishable from one another, whereas both differed slightly, yet significantly, from Ashkenazi Jews. The differences among Ashkenazim may be a result of low-level gene flow from European populations and/or genetic drift during isolation. Admixture between Kurdish Jews and their former Muslim host population in Kurdistan appeared to be negligible. In comparison with data available from other relevant populations in the region, Jews were found to be more closely related to groups in the north of the Fertile Crescent (Kurds, Turks, and Armenians) than to their Arab neighbors. The two haplogroups Eu 9 and Eu 10 constitute a major part of the Y chromosome pool in the analyzed sample. Our data suggest that Eu 9 originated in the northern part, and Eu 10 in the southern part of the Fertile Crescent. Genetic dating yielded estimates of the expansion of both haplogroups that cover the Neolithic period in the region. Palestinian Arabs and Bedouin differed from the other Middle Eastern populations studied here, mainly in specific high-frequency Eu 10 haplotypes not found in the non-Arab groups. These chromosomes might have been introduced through migrations from the Arabian Peninsula during the last two millennia. The present study contributes to the elucidation of the complex demographic history that shaped the present-day genetic landscape in the region.
Alleles↗
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↗
Was the pedestrian hit in an erect position before being run over?
If a pedestrian was run over by a car, the question can arise whether there was a preceding collision while the pedestrian was in an erect position. From a total of 53 selected autopsy reports, the findings associated with accidents known to involve running over in isolation (n=32) were compared to findings associated with a combined mechanism of a primary impact in an erect position and subsequent running over (n=21). Findings exclusively present in the combined group were wedge-shaped bone fractures ("Messerer"-wedges, 38%), glass fragment injuries (24%), traumatic amputations (10%), traces of car paint on the lower extremities (50%) and abrasions of the shoe soles (17%). These findings can be considered specific for a primary impact in an erect position. Fractures of the cervical and lumbar spine were present in the combined group in 33 and 17%, respectively. In contrast, in the run over group, there was only one case of fracture of the cervical and one of the lumbar spine and both cases involved direct contact with a car wheel. Fractures of the cervical and lumbar spine are, therefore, very indicative for a primary impact. "Bumper injuries", sacroiliac dislocations and fractures of the thoracic spine were approximately 2.5 times more common in the combined group than in the run over group. In the vast majority of cases, a clear differentiation between the two groups is, therefore, possible on the basis of the autopsy findings. This is especially relevant if an inspection of the car cannot be performed after a hit-and-run accident, which occurred in 26% of the cases in this study. In addition, the blood alcohol levels were higher in the run over group (mean=2.14g/l) as compared to the combined group (mean=1.53g/l).
Accidents, Traffic↗
[The practice of medical postmortem examination].
BACKGROUND AND OBJECTIVE: The quality of the external examination of corpses has repeatedly been criticized. This study provides information on the performance of the external examination of bodies in practice which is necessary for improving the quality of the examination. METHODS: 1000 randomly selected medical practitioners from the "Arztekammer Westfalen-Lippe" were sent a questionnaire concerning personal data, the performance of the external examination of bodies and possible influencing of the decision on the manner of death (i.e. natural, unnatural or uncertain) by a third person. In addition reports of four typical cases were presented and a classification of the manner of death was requested. RESULTS: The return rate of the questionnaires was almost 30%, 289 questionnaires were evaluated. Although most doctors stated that the external examination took them 20 to 30 minutes, only 25% undressed the body completely. Almost 50% of the doctors had been influenced by a third person in the decision on the manner of death at least once, most often by the police. The four short cases were incomprehensibly often classified as "natural death", especially by internists. CONCLUSIONS: Signs of an unnatural cause of death will only be detected by chance if the body is only briefly examined and not undressed completely. If such signs are absent the manner of death should be classified as "uncertain" in unclarified or doubtful cases, even against attempted influencing by third persons. In order to avoid conflicts of interests it would be desirable if only specialized medical practitioners would perform the external examination of corpses.
Autopsy↗
Results of a collaborative study of the EDNAP group regarding the reproducibility and robustness of the Y-chromosome STRs DYS19, DYS389 I and II, DYS390 and DYS393 in a PCR pentaplex format.
A collaborative exercise was carried out by the European DNA Profiling Group (EDNAP) in the frame work of the STADNAP program, i.e. standardization of DNA profiling in Europe, in order to evaluate the performance of a Y-chromosome STR pentaplex, which includes the loci DYS19, DYS389 I and II, DYS390 and DYS393 and to determine whether uniformity of results could be achieved among different European laboratories. Laboratories were asked to analyze the five Y-STRs using singleplex and multiplex conditions in three bloodstains and one mixed stain (95% female and 5% male). All the laboratories reported the same results even for the mixed stain included in the exercise. This demonstrates the reproducibility and robustness of Y-chromosome STR typing even with multiplex formats and proves the usefulness of Y-STR systems for analyzing mixed stains with a male component.A total of 930 male samples from 10 different populations from Europe were also analysed for all the loci included in the pentaplex. Eight of these ten populations also included haplotype data. As for single gene analysis, haplotype diversity was higher in Germany and Italy and lower in Western European countries and Finland. Pairwise haplotype analysis shows the Finnish departure from the rest of the populations and a relatively homogeneity in the other European populations with F(ST) estimates lower than 0.05.UPGMA analysis shows an association of Western European population (Ireland, UK, Portugal and Galicia) on the one hand and central European populations on the other.
Blood Stains↗
Mutation rates at two human Y-chromosomal microsatellite loci using small pool PCR techniques.
Polymorphic Y-chromosomal short tandem repeats (Y-STRs) are being employed for phylogenetic and evolutionary studies as well as for forensic applications. Precise knowledge of mutation types and rates is essential and has hitherto been obtained from computer simulation or small-sized father/son pairs, or derived from the more intensively studied autosomal STRs, respectively. To establish more accurate values we analysed about 18 000 DNA sequences isolated from sperm cells of three donors, representing highly validated offspring. Two loci were examined, i.e. DYS19 and DYS390. The methodology applied was small pool PCR with automated laser-induced fluorescence detection. The mutation rates for single repeat gains were determined as 0.18% [95% confidence interval (CI) 0.11--0.31%] for DYS390 and 0.21% (95% CI 0.13--0.33%) for DYS19, and two-repeat changes occurred in the order of 0.01%. Assuming a similar rate for the loss of repeats, which could not be detected with our approach, we predict an overall mutation rate of approximately 0.4% per gamete per generation for both Y tetranucleotide loci. Moreover, these results support the stepwise mutation mechanism based on replication slippage. We expect this approach to be useful for individual mutation risk determination, as well as for studies concerning male history.
DNA Mutational Analysis↗
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↗
Arrow wounds: major stimulus in the history of surgery.
To illustrate how the high incidence of arrow wounds provided a major stimulus for the development of surgery until a century ago, we conducted a literature search. Our research shows that archaic peoples developed considerable surgical skill for extraction of arrows, including thoracotomy and trephination. A classical Hindu veda describes a variety of extraction methods, and Homer's Iliad introduces the term iatros, which means "he who extracts arrows." Hippocrates of Kos and Galen, representatives of the humoral doctrine, both shunned surgical intervention and considered purulence a drainage of materia peccans (spoiled humors). Cornelius Celsus was the first to systematically differentiate removal of arrows per extractionem and per expulsionem. Celsus recommended the spoon of Diocles, an ancient surgical instrument specially designed for extraction of arrows. Paulus of Aegina favored rapid extraction, aggressive therapy, and ligature on both sides of a vessel before extraction efforts. Paulus was the first to describe a special instrument for the removal of detached arrowheads per expulsionem (propulsorium). In medieval Europe, the standard of surgery declined drastically. The classical procedure under the dominant influence of the humoral concept was to await pus before extraction and to burn the wound with boiling oil and a branding iron. Arab authors had conserved the knowledge of Celsus and Paulus, and in Europe a renewal was achieved by Ambroise Paré, who has been called the creator of modern surgery. The incidence of arrow wounds increased once more in the American West. Joseph H. Bill, a famous U.S. Army Surgeon preoccupied with arrow wounds, favored rapid extraction and aggressive therapy, and he taught recruits not to apply traction on the shaft. The principles established by Celsus, Paulus, Paré, and Bill not only mark important landmarks in the evolution of surgery but can also serve as the basis for modern treatment of arrow wounds, which still occur, although on a small scale.
General Surgery↗
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↗