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Biomedical subjects

M Klintschar

Publications and source records attributed to M Klintschar.

33 records · Page 2Linked to original sources
PubMed1998

Fatal missile injury from the rotating knife of an agricultural mower.

The first case of a lethal injury inflicted by a projectile-wise shot piece of the rotating knife of an agricultural mower (gyro mower) is presented. The knife had travelled approximately 100 m through the air before hitting the victim's body. It transected most organs of the ventral neck including both carotids, the trachea and the esophagus and led to death from exsanguination. The type of the knife which was recovered from the body led to the identification of the mower whose operator had not noticed the accident. Legal action against the user or against the producer of the mower were considered but dismissed as no safety regulations had been violated.

Accidents↗
PubMed1998

A collaborative genetic study on the STR system FGA in two Austrian population samples.

Population genetic data of the short tandem repeat system FGA were determined by PCR analysis in two Austrian population samples, one population north of the Alps and one population south of the Alps. A total of 15 different alleles could be observed in 500 unrelated individuals. No significant differences were found between the phenotype frequencies in the two populations, as determined by R x C contingency test, so the populations could be pooled for further analysis. Both the single populations and the pooled population are in accordance with Hardy-Weinberg equilibrium. FGA proves to be very efficient for both stain analysis and paternity testing. The presented allele and genotype data allow the statistical interpretation of this system for Austrians.

Alleles↗
PubMed1998

A study on the short tandem repeat system ACTBP2 (SE33) in an Austrian population sample.

Population genetic studies were carried out on 932 caucasians from Austria using the short tandem repeat system ACTBP2 (SEE33). A sequenced allelic ladder was used for typing (Möller et al. 1995). After native polyacrylamide gel electrophoresis all 26 alleles of the ladder were found as well as 194 alleles which migrated differently from those in the ladder. Forensically relevant parameters were calculated (discrimination power: 0.989, mean exclusion chance: 0.854, observed heterozygosity 0.946). An allele consisting of 9 repeats which is not part of the allelic ladder was also found. In 692 meioses 5 mutations were found (mutation rate 0.72%).

Actins↗
PubMed1998

Massive injury to the heart after attempted active compression-decompression cardiopulmonary resuscitation.

An 84-year-old woman was unsuccessfully resuscitated for 3 min using standard cardiopulmonary resuscitation (CPR), followed by 15 min of active compression-decompression (ACD). The autopsy revealed that death was due to myocardial infarction complicated by rupture of the infarcted area and pericardial tamponade was diagnosed. Furthermore, a series of rib fractures, a transverse fracture of the sternum, rupture of the pericardial sac, the right ventricle, both atria and lacerations of the ascending aorta, were found with no signs of a vital reaction. To our knowledge, such extensive cardiac injury after CPR has not been previously reported. It is suggested that the pre-existing pericardial tamponade, the age of the patient and the application of the ACD-device to incorrect areas of the chest contributed to the extent of the cardiac injury. This case further adds to the suspicion of an increased risk of cardiac injuries when using an ACD device for cardiac massage.

Aged↗
PubMed1998

A study on the short tandem repeat systems HumCD4, HumTH01 and HumFIBRA in population samples from Yemen and Egypt.

The short tandem repeat systems (STRs) HumCD4 (CD4), HumTH01 (TH01) and HumFIBRA (FGA) were amplified by the polymerase chain reaction (PCR) on blood samples from 100 unrelated Yemenians and 100 unrelated Egyptians. PCR products were separated on native horizontal discontinuous gel electrophoresis followed by silver staining. The distribution of observed phenotypes did not deviate from Hardy-Weinberg equilibrium. While significant differences between both Arab populations and an European population from Austria were found at all loci, differences between the Egyptian and the Yemenian samples were found only for CD4. In a number of verified Austrian families (TH01: 426 meioses, CD4: 275 meioses, FGA: 144 meioses) no mutations were found. The observation of a TH01 allele consisting of 4 repeats was confirmed by sequencing. Moreover we report the structure of a TH01 allele 6.3 observed in a Hungarian Caucasian population.

Alleles↗
PubMed1998

Study on the STR TPOX in an Italian and an Austrian population using two different primer pairs and three different electrophoretic methods.

The short tandem repeat TPOX was studied using two different pairs of primers and three different electrophoretic methods with the aim of optimizing and standardizing the typing conditions for this locus. A genetic population study was subsequently conducted on two population samples from Central Italy (151 individuals) and from Austria (153 individuals) and compared using an R x C contingency table. With the aim of using this system for forensic samples, differences in sensitivity between the methods utilized were studied and several parameters of forensic interest for the two populations (PD, MEC, MEP, pM, PIC) were calculated. A new multiplex system for the loci CSF1PO, TPOX and CD4 is also presented.

Austria↗
PubMed1998

Genetic variation and sequence studies of a highly variable short tandem repeat at the D17S976 locus.

The STR locus D17S976 was investigated by PCR amplification and native polyacrylamide gel electrophoresis in 158 unrelated Austrian Caucasians. No deviations from Hardy-Weinberg expectations were observed. The mean exclusion chance was 0.792, the discriminating power was 0.980 and the observed heterozygosity rate was 0.873. Moreover two alternative denaturing electrophoretic protocols are proposed. An allelic ladder consisting of 14 sequenced alleles (236-288 bp) was constructed. Sequence analysis revealed that the locus contained three different repeat motifs: ATCA, ATCT and ACCT, all of which vary in number between alleles. The aggregate number of the three tetrameric repeat types was used for allele designation. As a repeat with a single base deletion (ATC) was found in both the smallest and the largest alleles, a ".3" was added to the allele designation in those cases. Therefore the smallest allele is designated 19.3, and the largest allele is designated 32.3. To evaluate the exact extent of sequence variation more extensive sequence studies are necessary.

Alleles↗
PubMed1998

Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat.

In 10,844 parent/child allelic transfers at nine short-tandem-repeat (STR) loci, 23 isolated STR mismatches were observed. The parenthood in each of these cases was highly validated (probability >99.97%). The event was always repeat related, owing to either a single-step mutation (n=22) or a double-step mutation (n=1). The mutation rate was between 0 and 7 x 10(-3) per locus per gamete per generation. No mutations were observed in three of the nine loci. Mutation events in the male germ line were five to six times more frequent than in the female germ line. A positive exponential correlation between the geometric mean of the number of uninterrupted repeats and the mutation rate was observed. Our data demonstrate that mutation rates of different loci can differ by several orders of magnitude and that different alleles at one locus exhibit different mutation rates.

Adult↗
PubMed1998

Death from electrocution during autoerotic practice: case report and review of the literature.

A fatal case of electrocution occurring during autoerotic practice is described. A plausible reconstruction of the accident involves attachment of one electrode to the anus and accidental touching of the other electrode with hand and chest when attempting to attach it to the penis. Death was caused by myocardial fibrillation. Both cable and pornographic literature were obviously hidden by the parents of the deceased to conceal the actual cause of death. The accident is compared to cases found in the literature.

Adult↗
PubMed1998

Genetic variation at the short tandem repeat loci HumvWA, HumFXIIIB, and HumFES/FPS in the Egyptian and Yemenian populations.

The short tandem repeat systems (STRs) HumvWA, HumFXIIIB, and HumFES/FPS were amplified in a triplex polymerase chain reaction (PCR) on blood samples from 100 unrelated Yemenians and 100 unrelated Egyptians. The samples were analyzed by native horizontal discontinual electrophoresis. No deviations from Hardy-Weinberg equilibrium were detected. The mean exclusion chances for Egyptians and Yemenians were 0.634 and 0.591 (vWA), 0.530 and 0.531 (FXIIIB), and 0.573 and 0.583 (FES); the discriminating powers were 0.937 and 0.924 (vWA), 0.900 and 0.899 (FXIIIB), and 0.918 and 0.921 (FES); and the observed heterozygosity rates were 0.84 and 0.72 (vWA), 0.73 and 0.83 (FXIIIB), and 0.81 and 0.80 (FES). No significant differences were found between the two Arab populations, but the differences between both Arab populations and a European population for HumFES and FXIIIB and between the Yemenian sample and a European sample for vWA were significant. No evidence of linkage disequilibrium between any of the three STRs tested was found.

Alleles↗
PubMed1997

HumCD4--validation of a STR system for forensic purposes in an Austrian Caucasian population sample.

The short tandem repeat system HumCD4 was amplified by the polymerase chain reaction (PCR) on blood samples from 304 unrelated Austrian Caucasians and analyzed by horizontal, non-denaturing polyacrylamide electrophoresis. The mean exclusion chance was 0.417, the discriminating power 0.850 and the heterozygosity rate 0.628. The observed phenotype distribution is in Hardy-Weinberg equilibrium. In 100 families (200 meioses) no mutations were found. Sufficient amplification could be achieved with as little as 80 pg of high molecular weight cell-line DNA. In a degradation experiment DNA extracted from bloodstains stored for up to 28 days in a moist chamber and DNA boiled for up to 18 min could be amplified. A duplex PCR with TH01 is proposed.

Austria↗
PubMed1996

Validation of the STR system FXIIIB for forensic purposes in an Austrian population sample.

The short tandem repeat system FXIIIB was amplified by the polymerase chain reaction (PCR) on blood samples from 201 unrelated Austrians and analyzed by horizontal, non-denaturing polyacrylamide gel electrophoresis. The mean exclusion chance was 0.496, the discriminating power 0.883 and the heterozygosity rate 78.61%. In 50 families (100 meioses) no mutations were found. Sufficient amplification could be achieved with as little as 80 pg of high molecular weight cell line DNA, which could be reduced to 60 pg by using 32 instead of 30 cycles. By reamplifying 1 microliter for another 15 cycles, the threshold could be reduced to less than 20 pg. Nevertheless this sensitivity was only possible with cell line DNA, since reamplification of simulated stains proved to be problematical due to artifacts. In a degradation experiment. DNA extracted from bloodstains stored for up to 26 days in a moist chamber and DNA boiled for up to 18 min could be amplified. A quadruplex PCR with VWA, FES and amelogenin is proposed.

Alleles↗
PubMed1995

A study of the short tandem repeat systems HUMVWA and HUMTH01 in an Austrian population sample.

The genotype distributions for the short tandem repeat systems (STRs) HUMVWA and HUMTH01 have been studied in 128 unrelated Caucasians fromêAustria. The allelic distributions were in accordance with Hardy-Weinberg expectations. The heterozygosities were 0.82 and 0.81, whereas the mean exclusion chance was 0.62 and 0.55, respectively. In one person, a VWA-allele consisting of 11 repeats was found.

Austria↗
PubMed1995

Validation of the STR system FES/FPS for forensic purposes in an Austrian population sample.

The short tandem repeat system FES/FPS was amplified by the polymerase chain reaction (PCR) in 211 unrelated Austrians and analysed by horizontal, non-denaturing electrophoresis. The allele distribution was in Hardy-Weinberg equilibrium. No mutations were found in 25 families (50 meioses). The mean exclusion chance was 0.49, the discriminating power 0.86 and the heterozygosity rate 74.4%. Amplification could be achieved with as little as 100 pg of high molecular weight DNA, which could be reduced to 75 pg by using 32 instead of 30 cycles. By reamplifying 1 microliter for another 15 cycles, the threshold could be reduced to less than 20 pg. In a degradation experiment DNA extracted from bloodstains stored for up to 24 days in a moist chamber and DNA boiled for up to 18 min could be amplified.

Austria↗