Biomedical subjects

B Reichenpfader

Publications and source records attributed to B Reichenpfader.

9 recordsLinked to original sources

PubMed2006

Lethal brain abscess due to the fungus Scedosporium apiospermum (teleomorph Pseudallescheria boydii) after a near-drowning incident: case report and review of the literature.

A 39-year-old healthy man developed a brain abscess weeks after a near-drowning incident. Scedosporium apiospermum, the anamorph of Pseudallescheria boydii, was isolated from the abscess. The patient died 153 days after the accident despite antifungal therapy. We discuss the role of antifungals and review the literature for comparable cases.

Accidents, Traffic↗

PubMed2005

Finding of a skeleton in the Altaussee Lake--a forensic odyssey.

Divers found several human bones in a lake in central Austria. As signs of blunt force trauma to the skull were detectable and one of the possible perpetrators still was alive, exact medico-legal examination was necessary. Age of the person and time since death were estimated. The residues of possible brain tissue underwent histological examination. Two of the three missing persons could be excluded, one of them using mitochondrial DNA analysis. Any pending legal proceedings could be avoided as a result of our examinations.

Adult↗

PubMed2002

D1S1171: a new highly variable short tandem repeat polymorphism.

This study reports the evaluation of the STR locus D1S1171 (GDB: 312934) for forensic purposes, which was investigated by PCR amplification and native polyacrylamide gel electrophoresis in 141 unrelated Austrians. No deviations from Hardy-Weinberg expectations were observed. The mean exclusion chance (MEC) was 0.677, the discriminating power (DP) was 0.951 and the observed heterozygosity rate was 0.853. An allelic ladder consisting of 10 sequenced alleles (96-132 bp) was constructed. Sequence analysis revealed a GAAA repeat motif. According to the number of tetranucleotide repeats the smallest allele was designated 9 and the largest allele 18.

Alleles↗

PubMed2001

Significant differences between Yemenite and Egyptian STR profiles and the influence on frequency estimations in Arabs.

A population genetic study was performed on Yemenites using the set of nine short tandem repeat loci (STRs) D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820. Analysis of the data revealed that all loci were in Hardy-Weinberg equilibrium and evidence of linkage equilibrium was found for only 1 out of 36 locus pairs. At seven loci the allelic distributions found in the Yemenite sample were significantly different from those found for an Arab population sample from Egypt. Nevertheless, we assume that the Yemenite database can be used for Arabs of unknown or foreign (non-Yemenite) origin in the absence of population-specific databases without exerting a significant bias on the biostatistical interpretation. In an experimental set-up (ethnic profile frequency ratio test), the impact of calculating multi-locus profile frequencies for foreign Arab individuals (Egyptians) using the Yemenite database instead of a region-specific one was negligible.

Arabs↗

PubMed1999

Population genetic studies on the tetrameric short tandem repeat loci D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820 in Egypt.

The short tandem repeat loci (STRs) D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 and a locus allowing for sex-discrimination (amelogenin) can be co-amplified by the polymerase chain reaction using a commercially available kit (AmpFlSTR Profiler plus, Perkin-Elmer Biosystems, San Jose, CA) and subsequently typed using capillary electrophoresis (ABI Prism 310 Genetic analyzer, Perkin Elmer Applied Biosystems, San Jose CA). To establish databases for these loci for an Arab population sample from Egypt, 140 unrelated persons were typed. Analysis of these data revealed that all loci except for VWA were in Hardy-Weinberg equilibrium, that the combined mean paternity exclusion chance (MEC) was 0.999875 and that the combined discriminating power (DP) was 2.635 x 10(-11). The allelic distributions found in the Egyptian sample were significantly different at four loci from those found for an Austrian Caucasian population, at all nine loci from an African-American sample and at six of six loci from a Chinese sample. No evidence of linkage equilibrium between any of the co-amplified loci was found. Our results support that the combination of multiplex PCR and capillary electrophoresis can both save time and yield excellent results for paternity testing and stain analysis.

Alleles↗

PubMed1999

Population genetic studies on nine tetrameric short tandem repeat loci using fluorescence dye-labeled primers and capillary electrophoresis in the Austrian population.

The short tandem repeats (STR) D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 and a locus allowing sex discrimination (amelogenin) can be coamplified by the polymerase chain reaction using a commercially available kit, and subsequently typed using capillary electrophoresis. To establish databases for these loci for Austrian Caucasians, 115 unrelated persons were typed. All loci were in Hardy-Weinberg equilibrium. The combined mean paternity exclusion chance (MEC) was 0.999891 and the combined discriminating power (DP) was 3.08 x 10(-11). The allelic distributions showed no differences to those found for other Caucasian populations. Our data differed significantly from an Afro-American population at 5 loci and from a Chinese population at 4 loci. Linkage disequilibrium between any of the coamplified loci was not evident. Thus the combination of multiplex PCR and capillary electrophoresis can save time and yield excellent results for paternity testing and stain analysis.

Austria↗

PubMed1999

Characterization of a highly variable short tandem repeat polymorphism at the D2S1242 locus.

We report the evaluation of short tandem repeat (STR) locus D2S1242 (GDB ID G00-309-429) for forensic purposes, investigated by polymerase chain reaction (PCR) amplification and both native and denaturating polyacrylamide gel electrophoresis in 147 unrelated Austrians. No deviations from Hardy-Weinberg expectations were observed. The mean exclusion chance (MEC) was 0.669, the discriminating power (DP) was 0.947, and the observed heterozygosity rate was 0.856. An allelic ladder consisting of eight sequenced alleles (141-167 and 175 bp) was constructed. Sequence analysis revealed that the locus comprised two repeat motifs varying in number between alleles GAAA and GAAG. According to the number of tetranucleotide repeats the smallest allele was designated as 10 and the largest allele as 18.

Alleles↗

PubMed1998

Genetic variation at the STR loci D12S391 and CSF1PO in four populations from Austria, Italy, Egypt and Yemen.

The short tandem repeat systems (STRs) D12S391 and CSF1P0 were amplified by the polymerase chain reaction (PCR) on blood samples from 100 to 158 unrelated Austrians, Italians, Yemenians and Egyptians. The samples were analyzed by both native and denaturing electrophoresis and two primer pairs were tested for the CSF1PO locus. Except for the CSF1PO data on the Egyptians, no deviations from the Hardy-Weinberg equilibrium were detected. For D12S391, no significant differences were found between the two Arab populations and between the two European populations, but the differences between both Arab populations and the Italians were significant. For CSF1PO, differences were only observed between the Yemenians and all three other populations. No evidence of linkage disequilibrium between the two STRs was found. The observation of a D12S391 allele consisting of only 14 repeats was confirmed by sequencing.

Alleles↗

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↗