| 1. |
- Andréasson, Hanna, et al.
(författare)
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Quantification of mtDNA mixtures in forensic evidence material using pyrosequencing
- 2006
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 120:6, s. 383-390
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Tidskriftsartikel (refereegranskat)abstract
- Analysis of mtDNA variation using Sanger sequencing does not allow accurate quantification of the components of mtDNA mixtures. An alternative method to determine the specific mixture ratios in samples displaying heteroplasmy, consisting of DNA contributions from several individuals, or containing contamination would therefore be valuable. A novel quantification system for mtDNA mixture analysis has been developed based on pyrosequencing technology, in which the linear relationship between incorporated nucleotides and released light allows quantification of the components of a sample. Within five polymerase chain reaction fragments, seven variable positions in the mtDNA control and coding region were evaluated using this quantification analysis. For all single nucleotide polymorphisms quantified in this study, a linear relationship was observed between the measured and expected mixture ratios. This mtDNA quantification assay is an easy to use, fast and accurate quantification system, with the ability to resolve and interpret major and minor mtDNA components in forensic mixture samples.
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| 2. |
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| 3. |
- Edston, Erik, et al.
(författare)
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Histiocytoid cardiomyopathy and ventricular non-compaction in a case of sudden death in a female infant
- 2009
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 123:1, s. 47-53
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Tidskriftsartikel (refereegranskat)abstract
- A case of sudden infant death with histiocytoid cardiomyopathy and ventricular non-compaction was investigated with immunohistochemical methods. Histiocytoid cardiomyopathy is thought to be a developmental defect of the cardiomyocytes of the conduction system. In contrast to mature cardiomyocytes, the histiocytoid cells showed only weak reactions to desmin and myosin antibodies. They lacked cross-striation but reacted strongly to enolase and myoglobin antibodies. The protein Pax-7, seen only in cells undergoing differentiation, and the proliferation marker Ki-67 were not expressed in the histiocytoid cells. In areas of altered myocardium, clusters of CD4-, CD8-, and CD68-positive inflammatory cells were seen as well an abundance of mast cells. With the TUNEL method, it was found that many of the histiocytoid cells were undergoing apoptosis. Our results confirm that the histiocytoid cells are defective cardiomyocytes. The apoptotic and inflammatory changes point to a degenerative process rather than defective maturation of cardiomyocytes as has been suggested in some earlier studies. Ventricular non-compaction is a developmental defect of the subendocardial tissue with hypertrabeculation and weak development of the papillary muscles. Only one case combined with histiocytoid cardiomyopathy has been described previously. A causal connection between the two conditions cannot be established until more cases have been analyzed.
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| 4. |
- Edston, Erik, et al.
(författare)
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Mast cell tryptase in postmortem serum - Reference values and confounders
- 2007
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 121:4, s. 275-280
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Tidskriftsartikel (refereegranskat)abstract
- We have investigated the effects of some factors suspected of inducing spuriously increased tryptase concentrations, specifically sampling site, conjunctival petechial bleeding and prone position at the time of death as indicators of premortem asphyxia, and resuscitation efforts by external cardiac massage. Tryptase was measured in blood from the femoral vein in 60 deaths: 39 control cases who died rapidly (within minutes) from natural causes (sudden cardiac death and acute aortic dissection), 16 with death caused by prolonged asphyxia (traumatic compression of the chest and suffocation due to body position or smothering), and five anaphylactic deaths. In 44 of these cases, tryptase was measured in both heart and femoral blood. Mast cell tryptase was analyzed with a commercial FEIA method (Pharmacia Diagnostics AB, Uppsala, Sweden) measuring both a- and ß-tryptase. Assuming that tryptase values in the control group were gamma distributed, we calculated the upper normal limits for tryptase concentrations in femoral blood. It was found that 95% of the controls had values below 44.3 µg/l (femoral blood), SD 5.27 µg/l. All but one of the anaphylactic deaths had tryptase concentrations exceeding that limit. Tryptase was significantly elevated in femoral blood from anaphylactic deaths (p<0.007), compared with the controls. Also, in the cases where death had occurred due to asphyxia tryptase was elevated in femoral blood (p<0.04). A significant difference in tryptase concentrations was seen between blood from the heart and the femoral vessels (p<0.02) in the whole material (n=44). Tryptase concentrations in femoral blood were not influenced by prone position at death, or resuscitation efforts. It is concluded that asphyxia premortem seems to affect tryptase concentrations, that postmortem tryptase measurements should be done in serum from femoral blood, and that the normal upper limit, covering 95%, is 44.3 µg/l. © 2006 Springer-Verlag.
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| 5. |
- Goedbloed, Miriam, et al.
(författare)
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Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR (R) Yfiler (R) PCR amplification kit
- 2009
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 123:6, s. 471-482
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Tidskriftsartikel (refereegranskat)abstract
- The Y-chromosomal short tandem repeat (YSTR) polymorphisms included in the AmpFlSTR (R) Yfiler (R) polymerase chain reaction amplification kit have become widely used for forensic and evolutionary applications where a reliable knowledge on mutation properties is necessary for correct data interpretation. Therefore, we investigated the 17 Yfiler Y-STRs in 1,730-1,764 DNA-confirmed father-son pairs per locus and found 84 sequence-confirmed mutations among the 29,792 meiotic transfers covered. Of the 84 mutations, 83 (98.8%) were single-repeat changes and one (1.2%) was a double-repeat change (ratio, 1:0.01), as well as 43 (51.2%) were repeat gains and 41 (48.8%) repeat losses (ratio, 1:0.95). Medians from Bayesian estimation of locus-specific mutation rates ranged from 0.0003 for DYS448 to 0.0074 for DYS458, with a median rate across all 17 Y-STRs of 0.0025. The mean age (at the time of son's birth) of fathers with mutations was with 34.40 (+/-11.63) years higher than that of fathers without ones at 30.32 (+/-10.22) years, a difference that is highly statistically significant (p<0.001). A Poisson-based modeling revealed that the Y-STR mutation rate increased with increasing father's age on a statistically significant level (alpha=0.0294, 2.5% quantile=0.0001). From combining our data with those previously published, considering all together 135,212 meiotic events and 331 mutations, we conclude for the Yfiler Y-STRs that (1) none had a mutation rate of >1%, 12 had mutation rates of >0.1% and four of <0.1%, (2) single-repeat changes were strongly favored over multiple-repeat ones for all loci but 1 and (3) considerable variation existed among loci in the ratio of repeat gains versus losses. Our finding of three Y-STR mutations in one father-son pair (and two pairs with two mutations each) has consequences for determining the threshold of allelic differences to conclude exclusion constellations in future applications of Y-STRs in paternity testing and pedigree analyses.
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| 6. |
- Jackowski, C., et al.
(författare)
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Ultra-high-resolution dual-source CT for forensic dental visualization - Discrimination of ceramic and composite fillings
- 2008
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 122:4, s. 301-307
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Tidskriftsartikel (refereegranskat)abstract
- Dental identification is the most valuable method to identify human remains in single cases with major postmortem alterations as well as in mass casualties because of its practicability and demanding reliability. Computed tomography (CT) has been investigated as a supportive tool for forensic identification and has proven to be valuable. It can also scan the dentition of a deceased within minutes. In the present study, we investigated currently used restorative materials using ultra-high-resolution dual-source CT and the extended CT scale for the purpose of a color-encoded, in scale, and artifact-free visualization in 3D volume rendering. In 122 human molars, 220 cavities with 2-, 3-, 4- and 5-mm diameter were prepared. With presently used filling materials (different composites, temporary filling materials, ceramic, and liner), these cavities were restored in six teeth for each material and cavity size (exception amalgam n=1). The teeth were CT scanned and images reconstructed using an extended CT scale. Filling materials were analyzed in terms of resulting Hounsfield units (HU) and filling size representation within the images. Varying restorative materials showed distinctively differing radiopacities allowing for CT-data-based discrimination. Particularly, ceramic and composite fillings could be differentiated. The HU values were used to generate an updated volume-rendering preset for postmortem extended CT scale data of the dentition to easily visualize the position of restorations, the shape (in scale), and the material used which is color encoded in 3D. The results provide the scientific background for the application of 3D volume rendering to visualize the human dentition for forensic identification purposes. © 2008 Springer-Verlag.
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| 7. |
- Jones, A Wayne, 1945-
(författare)
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Crème de la crème in forensic science and legal medicine : The most highly cited articles, authors and journals 1981-2003
- 2005
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 119:2, s. 59-65
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Tidskriftsartikel (refereegranskat)abstract
- The importance and prestige of a scientific journal is increasingly being judged by the number of times the articles it publishes are cited or referenced in articles published in other scientific journals. Citation counting is also used to assess the merits of individual scientists when academic promotion and tenure are decided. With the help of Thomson, Institute for Scientific Information (Thomson ISI) a citation database was created for six leading forensic science and legal medicine journals. This database was used to determine the most highly cited articles, authors, journals and the most prolific authors of articles in the forensic sciences. The forensic science and legal medicine journals evaluated were: Journal of Forensic Sciences (JFS), Forensic Science International (FSI), International Journal of Legal Medicine (IJLM), Medicine, Science and the Law (MSL), American Journal of Forensic Medicine and Pathology (AJFMP), and Science and Justice (S&J). The resulting forensics database contained 14,210 papers published between 1981 and 2003. This in-depth bibliometric analysis has identified the crème de la crème in forensic science and legal medicine in a quantitative and objective way by citation analysis with focus on articles, authors and journals. © Springer-Verlag 2005.
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| 8. |
- Jones, A Wayne, 1945-
(författare)
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Ultra-rapid rate of ethanol elimination from blood in drunken drivers with extremely high blood-alcohol concentrations
- 2008
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 122:2, s. 129-134
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Tidskriftsartikel (refereegranskat)abstract
- The rate of alcohol elimination from blood was determined in drunken drivers by taking two blood samples about 1 h apart. These cases were selected because the individuals concerned had reached an extremely high blood-alcohol concentration (BAC) when they were apprehended. This suggests a period of continuous heavy drinking leading to the development of metabolic tolerance. Use of double blood samples to calculate the elimination rate of alcohol from blood is valid provided that drunken drivers are in the post-absorptive phase of the BAC curve, the time between sampling is not too short, and that zero-order elimination kinetics operates. Evidence in support of this came from other drunken drivers in which three consecutive blood samples were obtained at hourly intervals. The mean BAC (N=21) was 4.05 g/l (range, 2.71-5.18 g/l), and the average rate of alcohol elimination from blood was 0.33 g l-1 h -1 with a range of 0.20-0.62 g l-1 h-1. The possibility of ultra-rapid rates of ethanol elimination from blood in drunken drivers having extremely high BAC deserves to be considered in forensic casework, e.g., when retrograde extrapolations and other blood-alcohol calculations are made. The mechanism accounting for more rapid metabolism is probably related to induction of the microsomal enzyme (CYP2E1) pathway for ethanol oxidation, as one consequence of continuous heavy drinking. However, the dose of alcohol and the duration of drinking necessary to boost the activity of CYP2E1 enzymes in humans have not been established.
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| 9. |
- Wurst, Friedrich M., et al.
(författare)
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Measurement of direct ethanol metabolites in a case of a former driving under the influence (DUI) of alcohol offender, now claiming abstinence
- 2008
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Ingår i: International Journal of Legal Medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 122:3, s. 235-239
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Tidskriftsartikel (refereegranskat)abstract
- A 37-year-old female subject had been convicted of driving under the influence of alcohol, and 19 months later, claimed abstinence after supervised disulfiram treatment. Our aim was to elucidate the value of direct ethanol metabolites as measures of abstinence. Ethyl glucuronide (EtG) and fatty acid ethyl esters (FAEE) in hair, phosphatidylethanol in whole blood and EtG and ethyl sulphate in urine were measured. The results were compared with self-report of alcohol consumption and traditional blood biomarkers for chronically elevated alcohol consumption as carbohydrate deficient transferrin (CDT), gamma glutamyl transpeptidase, mean corpuscular erythrocyte volume, aspartate aminotransferase and alanine aminotransferase. EtG was found in distal parts of hair only, whereas the proximal parts were negative. Furthermore, FAEE concentrations were found in the typical distribution over the hair length and showed values typical for either moderate social drinking or abstinence. CDT was above cut-off in 9 out of 16 analyses with a decreasing tendency and the lowest values in the last 2 months before the end of sampling. The data suggest that in addition to traditional markers, a combination of direct ethanol metabolites can be useful in the expert assessment of judging driving ability. A careful individual interpretation of the results for the different markers, however, is an absolute necessity.
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| 10. |
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| 11. |
- Hedmark, Eva, et al.
(författare)
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Microsatellite genotyping of DNA isolated from claws left on tanned carnivore hides.
- 2005
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Ingår i: Int J Legal Med. - 0937-9827. ; 119:6, s. 370-3
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Tidskriftsartikel (refereegranskat)abstract
- Tanned hides, a common form of preservation of mammalian specimens, are usually resistant to DNA analysis. However, we show that DNA isolated from the pulp of claws of tanned hides amplifies well for microsatellite markers. For eight wolverine and eight lynx hides tanned 5-20 years ago, 93-98% of replicate amplifications gave distinct PCR products. Genotypes obtained in analysis of tissue samples of the same individuals were in all cases in agreement with those obtained by analysis of claws. We thus conclude that the use of claws from tanned hides offers new possibilities to genetic studies of preserved mammalian specimens, for instance, in the monitoring of illegal trade.
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