| 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. |
- Ceciliason, Ann-Sofie, 1971-, et al.
(författare)
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Histological quantification of decomposed human livers : a potential aid for estimation of the post-mortem interval?
- 2021
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Ingår i: International journal of legal medicine. - : Springer Nature. - 0937-9827 .- 1437-1596. ; 135:1, s. 253-267
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Tidskriftsartikel (refereegranskat)abstract
- The objective of this study was to determine if a novel scoring-based model for histological quantification of decomposed human livers could improve the precision of post-mortem interval (PMI) estimation for bodies from an indoor setting. The hepatic decomposition score (HDS) system created consists of five liver scores (HDS markers): cell nuclei and cell structure of hepatocytes, bile ducts, portal triad, and architecture. A total of 236 forensic autopsy cases were divided into a training dataset (n = 158) and a validation dataset (n = 78). All cases were also scored using the total body score (TBS) method. We specified a stochastic relationship between the log-transformed accumulated degree-days (log10ADD) and the taphonomic findings, using a multivariate regression model to compute the likelihood function. Three models were applied, based on: (i) five HDS markers, (ii) three partial body scores (head, trunk, limbs), or (iii) a combination of the two. The predicted log10ADD was compared with the true log10ADD for each case. The fitted models performed equally well in the training dataset and the validation dataset. The model comprising both scoring methods had somewhat better precision than either method separately. Our results indicated that the HDS system was statistically robust. Combining the HDS markers with the partial body scores resulted in a better representation of the decomposition process and might improve PMI estimation of decomposed human remains.
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| 4. |
- Ceciliason, Ann-Sofie, et al.
(författare)
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Microbial neoformation of volatiles : implications for the estimation of post-mortem interval in decomposed human remains in an indoor setting
- 2021
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Ingår i: International journal of legal medicine. - : Springer Nature. - 0937-9827 .- 1437-1596. ; 135:1, s. 223-233
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Tidskriftsartikel (refereegranskat)abstract
- The objective of this study was to determine if a relationship between microbial neoformation of volatiles and the post-mortem interval (PMI) exists, and if the volatiles could be used as a tool to improve the precision of PMI estimation in decomposed human remains found in an indoor setting. Chromatograms from alcohol analysis (femoral vein blood) of 412 cases were retrospectively assessed for the presence of ethanol, N-propanol, 1-butanol, and acetaldehyde. The most common finding was acetaldehyde (83% of the cases), followed by ethanol (37%), N-propanol (21%), and 1-butanol (4%). A direct link between the volatiles and the PMI or the degree of decomposition was not observed. However, the decomposition had progressed faster in cases with microbial neoformation than in cases without signs of neoformation. Microbial neoformation may therefore act as an indicator of the decomposition rate within the early decomposition to bloating stages. This may be used in PMI estimation based on the total body score (TBS) and accumulated degree days (ADD) model, to potentially improve the model's precision.
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| 5. |
- Ceciliason, Ann-Sofie, et al.
(författare)
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Mummification in a forensic context : an observational study of taphonomic changes and the post-mortem interval in an indoor setting
- 2023
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Ingår i: International journal of legal medicine. - : Springer Nature. - 0937-9827 .- 1437-1596. ; 137:4, s. 1077-1088
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Tidskriftsartikel (refereegranskat)abstract
- The objective of this study was to evaluate the presence of mummification in an indoor setting, with an emphasis on the forensic perspective. A dataset of 102 forensic autopsy cases was assessed for distribution of desiccation of skin and soft tissue (i.e., subcutaneous fat and musculature) and for moist decompositional (i.e., putrefactive) changes. Further, possible correlation with the post-mortem interval (PMI) was evaluated, as well as the effects of clothing coverage of the body. The results indicated that yellow to orange parchment-like desiccated skin was found at significantly shorter PMIs than reddish brown to black leathery desiccated skin, even when soft tissue desiccation was included in the comparative analysis. Clothing appeared to have a significant decelerating effect on the extent of desiccation on the legs, but findings in regard to whole body or torso/arms were inconclusive. A large variation in PMIs was evident as regards fully desiccated skin (PMI 18-217 days), indicating difficulties in PMI estimation due to a variable repressive effect on the decompositional process per se in an indoor setting. For the specific case in forensic practice, no definite conclusion can be drawn from the observed desiccation changes to the PMI. One way forward might be creating a systematic and standardized method for describing different desiccation types, as well as other cooccurring decompositional changes and how they relate to the PMI, as a foundation for a future quantification model.
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| 6. |
- Dorum, Guro, et al.
(författare)
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Mixtures with relatives and linked markers
- 2016
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Ingår i: International journal of legal medicine. - : SPRINGER. - 0937-9827 .- 1437-1596. ; 130:3, s. 621-634
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Tidskriftsartikel (refereegranskat)abstract
- Mixture DNA profiles commonly appear in forensic genetics, and a large number of statistical methods and software are available for such cases. However, most of the literature concerns mixtures where the contributors are assumed unrelated and the genetic markers are unlinked. In this paper, we consider mixtures of linked markers and related contributors. If no relationships are involved, linkage can be ignored. While unlinked markers can be treated independently, linkage introduces dependencies. The use of linked markers presents statistical and computational challenges, but may also lead to a considerable increase in power since the number of markers available is much larger if we do not require the markers to be unlinked. In addition, some cases that cannot be solved with an unlimited number of unlinked autosomal markers can be solved with linked markers. We focus on two special cases of linked markers: pairs of linked autosomal markers and X-chromosomal markers. A framework is presented for calculation of likelihood ratios for mixtures with general relationships and with linkage between any number of markers. Finally, we explore the effect of linkage disequilibrium, also called allelic association, on the likelihood ratio.
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| 7. |
- Edston, Erik, 1948-, et al.
(författare)
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Death in anaphylaxis in a man with house dust mite allergy
- 2003
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 117:5, s. 299-301
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Tidskriftsartikel (refereegranskat)abstract
- Up to recently the post-mortem diagnosis of anaphylaxis has been based solely on circumstantial evidence. With the development of assays for mast cell tryptase it is now possible to verify cases of suspected anaphylaxis. Here we present one such case, which initially appeared to be due to sudden death of unknown cause. A 47-year-old farmer was found dead in his bathroom around midnight. Hospital records revealed that he had previously been diagnosed with an allergy to house dust mites. He had also had infrequent episodes of airway symptoms, nausea, hypotension and diarrhoea usually after going to bed. The forensic autopsy did not give any clue to the cause of death. Serum tryptase in post-mortem blood was found to be substantially elevated in two samples (170 and >200 ╡g/L). Analysis of allergen-specific IgE showed high values for Dermatophagoides pteronyssinus and farinae. High mite allergen levels were found in dust obtained from the patient's mattress. The results of the immunological tests support the assumption that he died of anaphylactic shock. The circumstances and the patient's history of previous attacks after going to bed point to the fact that exposure to mite contaminated food and/or exposure to mite allergens in bed might have caused his death.
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| 8. |
- 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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| 9. |
- 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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| 10. |
- Edston, Erik, et al.
(författare)
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TUNEL : A useful screening method in sudden cardiac death
- 2002
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 116:1, s. 22-26
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Tidskriftsartikel (refereegranskat)abstract
- The primary objective of this study was to investigate if detection of apoptosis in the heart can be used to diagnose early myocardial ischaemia. The material consisted of myocardial tissue from autopsy cases: 10 cases with occlusive, thrombotic coronary artery disease and acute myocardial infarction, 10 cases of sudden cardiac death without coronary artery disease (CAD) and 8 controls without cardiovascular disease and with known causes of death. Necrotic changes in the myocardium were detected with hematoxylin-erythrosin-saffron, Mallory's PTAH stain and with antibodies against complement 9. Apoptotic nuclei were visualised with two different kits using the terminal deoxynucleotidyl transferase-mediated desoxyuridinetriphosphate nick end-labeling (TUNEL) method on histological sections. In the patients with CAD, early myocardial infarction was found in one defined area of the ventricular wall, apoptotic myocyte nuclei were observed not in the necrotic lesions, but evenly spread usually without a gradient, all over the myocardium with a mean number per high power field of 29% (range 3-56%) of the total number of myocyte nuclei. In the sudden cardiac deaths without CAD, necrosis was scarce and distributed both focally and irregularly in both the left and right ventricular walls. With few exceptions, the percentage of apoptotic myocyte nuclei exceeded 20% in all sections (mean 24%, range 0-68%). No difference was seen between patients with CAD and those without CAD (p > 0.05). With the TUNEL method, positively stained nuclei were seen very early and extensively all over the myocardium. It is not certain that they represent true apoptosis induced by ischemia, but TUNEL appears to be a useful screening method in cases where sudden cardiac death is suspected.
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| 11. |
- 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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| 12. |
- Grandell, Ida, et al.
(författare)
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A SNP panel for identity and kinship testing using massive parallel sequencing
- 2016
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Ingår i: International journal of legal medicine. - : SPRINGER. - 0937-9827 .- 1437-1596. ; 130:4, s. 905-914
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Tidskriftsartikel (refereegranskat)abstract
- Within forensic genetics, there is still a need for supplementary DNA marker typing in order to increase the power to solve cases for both identity testing and complex kinship issues. One major disadvantage with current capillary electrophoresis (CE) methods is the limitation in DNA marker multiplex capability. By utilizing massive parallel sequencing (MPS) technology, this capability can, however, be increased. We have designed a customized GeneRead DNASeq SNP panel (Qiagen) of 140 previously published autosomal forensically relevant identity SNPs for analysis using MPS. One single amplification step was followed by library preparation using the GeneRead Library Prep workflow (Qiagen). The sequencing was performed on a MiSeq System (Illumina), and the bioinformatic analyses were done using the software Biomedical Genomics Workbench (CLC Bio, Qiagen). Forty-nine individuals from a Swedish population were genotyped in order to establish genotype frequencies and to evaluate the performance of the assay. The analyses showed to have a balanced coverage among the included loci, and the heterozygous balance showed to have less than 0.5 % outliers. Analyses of dilution series of the 2800M Control DNA gave reproducible results down to 0.2 ng DNA input. In addition, typing of FTA samples and bone samples was performed with promising results. Further studies and optimizations are, however, required for a more detailed evaluation of the performance of degraded and PCR-inhibited forensic samples. In summary, the assay offers a straightforward sample-to-genotype workflow and could be useful to gain information in forensic casework, for both identity testing and in order to solve complex kinship issues.
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| 13. |
- Green, Henrik, et al.
(författare)
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The use of FTA cards to acquire DNA profiles from postmortem cases
- 2019
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Ingår i: International journal of legal medicine. - : SPRINGER. - 0937-9827 .- 1437-1596. ; 133:6, s. 1651-1657
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Tidskriftsartikel (refereegranskat)abstract
- Filter papers have been used for many years in different applications of molecular biology and have been proven to be a stable way to store DNA waiting to be analyzed. Sampling of DNA on FTA (Flinders Technology Associates) cards is convenient and cost effective compared to alternative approaches involving DNA extractions and storage of DNA extracts. FTA cards are analyzed at many forensic laboratories, and the way to perform direct genetic profiling on buccal swab cards has developed into an almost industrial process. The possibility to include postmortem (PM) samples into an FTA-based workflow would facilitate and speed up the genetic identification process compared to conventional methods, both on a regular basis and in a mass casualty event. In this study, we investigated if FTA cards may be used to carry tissue DNA from deceased and present a high-quality DNA profile from the individual in order to be useful for the identification process. The study also aimed to investigate if a specific body tissue would be preferable, and if decomposed tissue is suitable at all to put on an FTA card in order to obtain a DNA profile. We have compared the quality of the DNA profiles acquired from postmortem tissue on FTA cards, with the results acquired with conventional methods from reference bone/muscle samples from the same individual. Several types of tissues have been tested from different identification cases and scenarios. We concluded that tissue cells from inner organs are suitable to put on FTA cards, and that the obtained DNA profiles have the potential to serve as PM data for identification purposes. In cases including compromised samples, however, it is recommended to keep the tissue sample as a backup if further DNA has to be extracted.
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| 14. |
- Hedell, Ronny, 1985, et al.
(författare)
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Determining the optimal forensic DNA analysis procedure following investigation of sample quality
- 2018
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Ingår i: International Journal of Legal Medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 132:4, s. 955-966
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Tidskriftsartikel (refereegranskat)abstract
- © 2017 Springer-Verlag GmbH Germany Crime scene traces of various types are routinely sent to forensic laboratories for analysis, generally with the aim of addressing questions about the source of the trace. The laboratory may choose to analyse the samples in different ways depending on the type and quality of the sample, the importance of the case and the cost and performance of the available analysis methods. Theoretically well-founded guidelines for the choice of analysis method are, however, lacking in most situations. In this paper, it is shown how such guidelines can be created using Bayesian decision theory. The theory is applied to forensic DNA analysis, showing how the information from the initial qPCR analysis can be utilized. It is assumed the alternatives for analysis are using a standard short tandem repeat (STR) DNA analysis assay, using the standard assay and a complementary assay, or the analysis may be cancelled following quantification. The decision is based on information about the DNA amount and level of DNA degradation of the forensic sample, as well as case circumstances and the cost for analysis. Semi-continuous electropherogram models are used for simulation of DNA profiles and for computation of likelihood ratios. It is shown how tables and graphs, prepared beforehand, can be used to quickly find the optimal decision in forensic casework.
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| 15. |
- Henningsen, Mikkel Jon, et al.
(författare)
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Subject-specific finite element head models for skull fracture evaluation—a new tool in forensic pathology
- 2024
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Ingår i: International journal of legal medicine. - : Springer Nature. - 0937-9827 .- 1437-1596. ; 138:4, s. 1447-1458
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Tidskriftsartikel (refereegranskat)abstract
- Post-mortem computed tomography (PMCT) enables the creation of subject-specific 3D head models suitable for quantitative analysis such as finite element analysis (FEA). FEA of proposed traumatic events is an objective and repeatable numerical method for assessing whether an event could cause a skull fracture such as seen at autopsy. FEA of blunt force skull fracture in adults with subject-specific 3D models in forensic pathology remains uninvestigated. This study aimed to assess the feasibility of FEA for skull fracture analysis in routine forensic pathology. Five cases with blunt force skull fracture and sufficient information on the kinematics of the traumatic event to enable numerical reconstruction were chosen. Subject-specific finite element (FE) head models were constructed by mesh morphing based on PMCT 3D models and A Detailed and Personalizable Head Model with Axons for Injury Prediction (ADAPT) FE model. Morphing was successful in maintaining subject-specific 3D geometry and quality of the FE mesh in all cases. In three cases, the simulated fracture patterns were comparable in location and pattern to the fractures seen at autopsy/PMCT. In one case, the simulated fracture was in the parietal bone whereas the fracture seen at autopsy/PMCT was in the occipital bone. In another case, the simulated fracture was a spider-web fracture in the frontal bone, whereas a much smaller fracture was seen at autopsy/PMCT; however, the fracture in the early time steps of the simulation was comparable to autopsy/PMCT. FEA might be feasible in forensic pathology in cases with a single blunt force impact and well-described event circumstances.
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| 16. |
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| 17. |
- 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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| 18. |
- 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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| 19. |
- Jones, A Wayne, 1945-
(författare)
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Scientometric evaluation of highly cited scientists in the field of forensic science and legal medicine
- 2021
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Ingår i: International journal of legal medicine. - : SPRINGER. - 0937-9827 .- 1437-1596. ; 135:2, s. 701-707
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Tidskriftsartikel (refereegranskat)abstract
- A publically available database of the most highly cited scientists in all disciplines was used to identify people that belonged to the subject category "forensic science and legal medicine." This bibliometric information was derived from Elseviers SCOPUS database containing eight million scientists with at least five articles as author or co-author. The top 100,000 most highly cited scientists were identified and ranked according to six citation metrics; total number of citations, H-index, H-index adjusted for co-authorship, citations to single-authored papers, citations to single or first author papers and, citations to single, first, or last-authored papers. The eight million entries in the SCOPUS database were sub-divided into 22 main subject categories and 176 sub-categories, one of which was legal and forensic medicine. The citation databases were provided as supplementary material in two articles published in PLoS Biology in 2019 and 2020. Among the top 100,000 most highly cited scientists, there were only 30 allocated to the legal and forensic medicine category, according to the 2019 PLoS Biology article. The updated database from 2020 also included the names of people within the top-cited 2% of their scientific discipline. This increased the number of forensic practitioners to 215 from a total of 10,158 individuals in this subject category. This article takes a closer look at these highly cited forensic scientists, the countries where they work, the particular research field in which they publish, and their composite citation scores with and without self-citations. The top ten most cited individuals in both databases (2019 and 2020) were the same and these should therefore be considered an elite group among all forensic practitioners.
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| 20. |
- 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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| 21. |
- Karlsson, Louise, et al.
(författare)
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ABCB1 gene polymorphisms are associated with fatal intoxications involving venlafaxine but not citalopram
- 2013
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Ingår i: International journal of legal medicine. - : Springer Verlag (Germany). - 0937-9827 .- 1437-1596. ; 127:3, s. 579-586
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Tidskriftsartikel (refereegranskat)abstract
- P-glycoprotein (P-gp), encoded by the ABCB1/MDR1 gene, is a drug transporter at the blood–brain barrier. Several polymorphisms in the ABCB1 gene are known to affect the activity and/or expression of P-gp, thereby influencing the treatment response and toxicity of P-gp substrates like citalopram and venlafaxine. In this study, we aimed to investigate the frequency of ABCB1 genotypes in forensic autopsy cases involving these two antidepressants. Further, the distribution of ABCB1 genotypes in deaths related to intoxication was compared to cases not associated to drug intoxication. The study included 228 forensic autopsy cases with different causes and manners of deaths. The ABCB1 single nucleotide polymorphisms (SNPs) G1199A, C1236T, C3435T and G2677T/A for these individuals were determined. The SNPs C1236T and C3435T in venlafaxine-positive cases were significantly different between the intoxication cases and non-intoxications. This was not seen for cases involving citalopram, indicating that the effect of genetic variants might be substrate specific. This novel finding should, however, be confirmed in future studies with larger number of cases.
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| 22. |
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| 23. |
- Kling, D., et al.
(författare)
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A general model for likelihood computations of genetic marker data accounting for linkage, linkage disequilibrium, and mutations
- 2015
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Ingår i: International Journal of Legal Medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 129:5, s. 943-954
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Tidskriftsartikel (refereegranskat)abstract
- Several applications necessitate an unbiased determination of relatedness, be it in linkage or association studies or in a forensic setting. An appropriate model to compute the joint probability of some genetic data for a set of persons given some hypothesis about the pedigree structure is then required. The increasing number of markers available through high-density SNP microarray typing and NGS technologies intensifies the demand, where using a large number of markers may lead to biased results due to strong dependencies between closely located loci, both within pedigrees (linkage) and in the population (allelic association or linkage disequilibrium (LD)). We present a new general model, based on a Markov chain for inheritance patterns and another Markov chain for founder allele patterns, the latter allowing us to account for LD. We also demonstrate a specific implementation for X chromosomal markers that allows for computation of likelihoods based on hypotheses of alleged relationships and genetic marker data. The algorithm can simultaneously account for linkage, LD, and mutations. We demonstrate its feasibility using simulated examples. The algorithm is implemented in the software FamLinkX, providing a user-friendly GUI for Windows systems (FamLinkX, as well as further usage instructions, is freely available at www.famlink.se). Our software provides the necessary means to solve cases where no previous implementation exists. In addition, the software has the possibility to perform simulations in order to further study the impact of linkage and LD on computed likelihoods for an arbitrary set of markers.
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| 24. |
- Klütsch, Cornelya, et al.
(författare)
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Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees
- 2011
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 125:4, s. 527-535
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Tidskriftsartikel (refereegranskat)abstract
- Heteroplasmy, the presence of two or more variants in an organism, may render mitochondrial DNA (mtDNA)-based individual identification challenging in forensic analysis. However, the variation of heteroplasmic proportions and the segregation of heteroplasmic variants through generations and within families have not been systematically described at a large scale in animals such as the domestic dog. Therefore, we performed the largest study to date in domestic dogs and screened a 582-bp-long fragment of the mtDNA control region in 180 individuals in 58 pedigrees for signs of heteroplasmy. We identified three pedigrees (5.17%) with heteroplasmic point mutations. To follow the segregation of the point mutations, we then analyzed 131 samples from these three independent pedigrees and found significant differences in heteroplasmy between generations and among siblings. Frequently (10% of cases), the proportion of one base changed from 0-10% to 80-90% (as judged from Sanger electropherograms) between generations and varied to a similar extent among siblings. We included also a literature review of heteroplasmic and potential mutational hot spot positions in the studied region which showed that all heteroplasmic positions appear to be mutational hot spots. Thus, although heteroplasmy may be used to increase the significance of a match in forensic case work, it may also cause erroneous exclusion of related individuals because of sharp switches from one state to the other within a single generation or among siblings especially in the presented mutational hot spots.
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| 25. |
- Kugelberg, Fredrik, et al.
(författare)
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Forensic toxicology findings in deaths involving gamma-hydroxybutyrate
- 2010
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Ingår i: International journal of legal medicine. - : Elsevier. - 0937-9827 .- 1437-1596. ; 124:1
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Tidskriftsartikel (refereegranskat)abstract
- Concentrations of the illicit drug gamma-hydroxybutyrate (GHB) were determined in femoral venous blood and urine obtained at autopsy in a series of GHB-related deaths (N = 49). The analysis of GHB was done by gas chromatography after conversion to gamma-butyrolactone and quantitation of the latter with a flame ionization detector. The cutoff concentration of GHB in femoral blood or urine for reporting positive results was 30 mg/L. The deceased were mainly young men (86%) aged 26.5 +/- 7.2 years (mean +/- SD), and the women (14%) were about 5 years younger at 21.4 +/- 5.0 years. The mean, median, and highest concentrations of GHB in femoral blood (N = 37) were 294, 190, and 2,200 mg/L, respectively. The mean urine-to-blood ratio of GHB was 8.8, and the median was 5.2 (N = 28). In 12 cases, the concentrations of GHB in blood were negative (less than 30 mg/L) when the urine contained 350 mg/L on average (range 31-1,100 mg/L). Considerable poly-drug use was evident in these GHB-related deaths: ethanol (18 cases), amphetamine (12 cases), and various prescription medications (benzodizepines, opiates, and antidepressants) in other cases. Interpreting the concentrations of GHB in postmortem blood is complicated because of concomitant use of other psychoactive substances, variable degree of tolerance to centrally acting drugs, and the lack of reliable information about survival time after use of the drug.
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| 26. |
- Lembring, Maria, et al.
(författare)
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Mitochondrial DNA analysis of Swedish population samples
- 2013
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 127:6, s. 1097-1099
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Tidskriftsartikel (refereegranskat)abstract
- As a contribution to the geographic coverage of EMPOP, currently the best available forensic mitochondrial DNA (mtDNA) database, a total of 299 Swedish individuals were analysed by sequencing of the first and second hypervariable regions of the mtDNA genome. In this sample set, a total of 179 different haplotypes were detected. The genetic diversity was estimated to be 0.9895 (±0.0023), and the random match probability was 1.39 %. The most abundant haplogroups were HV (including its subhaplogroups H and V) with a frequency of 46.5 %, followed by haplogroup U (including its subhaplogroup K) at 27.8 %, haplogroup T at 10.0 % and haplogroup J at 7.0 %, a distribution that is consistent with previous observations in other European populations.
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| 27. |
- Lin, Zijie, et al.
(författare)
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Evaluation and review of ways to differentiate sources of ethanol in postmortem blood
- 2020
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Ingår i: International journal of legal medicine. - : SPRINGER. - 0937-9827 .- 1437-1596. ; 134, s. 2081-2093
-
Forskningsöversikt (refereegranskat)abstract
- Accurate determination of a persons blood alcohol concentration (BAC) is an important task in forensic toxicology laboratories because of the existence of statutory limits for driving a motor vehicle and workplace alcohol testing regulations. However, making a correct interpretation of the BAC determined in postmortem (PM) specimens is complicated, owing to the possibility that ethanol was produced in the body after death by the action of various micro-organisms (e.g., Candida species) and fermentation processes. This article reviews various ways to establish the source of ethanol in PM blood, including collection and analysis of alternative specimens (e.g., bile, vitreous humor (VH), and bladder urine), the identification of non-oxidative metabolites of ethanol, ethyl glucuronide (EtG) and ethyl sulfate (EtS), the urinary metabolites of serotonin (5-HTOL/5-HIAA), and identification ofn-propanol andn-butanol in blood, which are known putrefaction products. Practical utility of the various biomarkers including specificity and stability is discussed.
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| 28. |
- Malmqvist, Erik, et al.
(författare)
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Ethical aspects of medical age assessment in the asylum process : a Swedish perspective
- 2018
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Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 132:3, s. 815-823
-
Tidskriftsartikel (refereegranskat)abstract
- According to European regulations and the legisla-tions of individual member states, children who seek asylum have a different set of rights than adults in a similar position.To protect these rights and ensure rule of law, migration authorities are commonly required to assess the age of asylum seekers who lack reliable documentation, including throug hvarious medical methods. However, many healthcare professionals and other commentators consider medical age assessment to be ethically problematic. This paper presents a simplified and amended account of the main findings of a recent ethical analysis of medical age assessment in the asylum process commissioned by the Swedish National Board of Healthand Welfare. A number of ethical challenges related to conflicting goals, equality and fairness, autonomy and informed consent, privacy and integrity, and professional values and roles are identified and analysed. It is concluded that most of these challenges can be met, but that this requires a system where the assessment is sufficiently accurate and where adequate safeguards are in place. Two important ethical questions are found to warrant further analysis. The first is whether asylum seekers’consent to the procedure can be considered genuinely voluntary. The second is whether and how medica lage assessments could affect negative public attitudes towards asylum seekers or discriminatory societal views more generally.
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| 29. |
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| 30. |
- Mostad, Petter, 1964, et al.
(författare)
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Error rates for unvalidated medical age assessment procedures
- 2019
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Ingår i: International Journal of Legal Medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 133:2, s. 613-623
-
Tidskriftsartikel (refereegranskat)abstract
- During 2014-2015, Sweden received asylum applications from more than 240,000 people, of which more than 40,000 were termed unaccompanied minors. In a large number of cases, claims by asylum seekers of being below 18 years were not trusted by Swedish authorities. To handle the situation, the Swedish national board of forensic medicine (Rattsmedicinalverket, RMV) was assigned by the government to create a centralized system for medical age assessments. RMV introduced a procedure including two biological age indicators; x-ray of the third molars and magnetic resonance imaging of the distal femoral epiphysis. In 2017, a total of 9617 males and 337 females were subjected to this procedure. No validation study for the procedure was however published, and the observed number of cases with different maturity combinations in teeth and femur were unexpected given the claims originally made by RMV. We present a general stochastic model enabling us to study which combinations of age indicator model parameters and age population profiles are consistent with the observed 2017 data for males. We find that, contrary to some RMV claims, maturity of the femur, as observed by RMV, appears on average well before maturity of teeth. According to our estimates, approximately 15% of the tested males were children. These children had an approximate 33% risk of being classified as adults. The corresponding risk for an adult to be misclassified as a child was approximately 7%. We determine uncertainties and ranges of estimates under reasonable perturbations of the prior.
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| 31. |
- Mostad, Petter, 1964, et al.
(författare)
-
Mathematically optimal decisions in forensic age assessment
- 2022
-
Ingår i: International Journal of Legal Medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 136:3, s. 765-776
-
Tidskriftsartikel (refereegranskat)abstract
- Forensic age estimation generally involves considerable amounts of uncertainty. Forensic age indicators such as teeth or skeleton images predict age only approximately, and this is likely to remain true even for future forensic age indicators. Thus, forensic age assessment should aim to make the best possible decisions under uncertainty. In this paper, we apply mathematical theory to make statistically optimal decisions to age assessment. Such an application is fairly straightforward assuming there is a standardized procedure for obtaining age indicator information from individuals, assuming we have data from the application of this procedure to a group of persons with known ages, and assuming the starting point for each individual is a probability distribution describing prior knowledge about the persons age. The main problem is then to obtain such a prior. Our analysis indicates that individual priors rather than a common prior for all persons may be necessary. We suggest that caseworkers, based on individual case information, may select a prior from a menu of priors. We show how information may then be collected over time to gradually increase the robustness of the decision procedure. We also show how replacing individual prior distributions for age with individual prior odds for being above an age limit cannot be recommended as a general method. Our theoretical framework is applied to data where the maturity of the distal femur and the third molar is observed using MRI. As part of this analysis we observe a weak positive conditional correlation between maturity of the two body parts.
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| 32. |
- Müller, Petra, et al.
(författare)
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Inter-laboratory study on standardized MPS libraries : evaluation of performance, concordance, and sensitivity using mixtures and degraded DNA
- 2020
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Ingår i: International Journal of Legal Medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 134:1, s. 185-198
-
Tidskriftsartikel (refereegranskat)abstract
- We present results from an inter-laboratory massively parallel sequencing (MPS) study in the framework of the SeqForSTRs project to evaluate forensically relevant parameters, such as performance, concordance, and sensitivity, using a standardized sequencing library including reference material, mixtures, and ancient DNA samples. The standardized library was prepared using the ForenSeq DNA Signature Prep Kit (primer mix A). The library was shared between eight European laboratories located in Austria, France, Germany, The Netherlands, and Sweden to perform MPS on their particular MiSeq FGx sequencers. Despite variation in performance between sequencing runs, all laboratories obtained quality metrics that fell within the manufacturer’s recommended ranges. Furthermore, differences in locus coverage did not inevitably adversely affect heterozygous balance. Inter-laboratory concordance showed 100% concordant genotypes for the included autosomal and Y-STRs, and still, X-STR concordance exceeded 83%. The exclusive reasons for X-STR discordances were drop-outs at DXS10103. Sensitivity experiments demonstrated that correct allele calling varied between sequencing instruments in particular for lower DNA amounts (≤ 125 pg). The analysis of compromised DNA samples showed the drop-out of one sample (FA10013B01A) while for the remaining three degraded DNA samples MPS was able to successfully type ≥ 87% of all aSTRs, ≥ 78% of all Y-STRs, ≥ 68% of all X-STRs, and ≥ 92% of all iSNPs demonstrating that MPS is a promising tool for human identity testing, which in return, has to undergo rigorous in-house validation before it can be implemented into forensic routine casework.
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| 33. |
- Nilsson, Gunnel, et al.
(författare)
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Validation of an LC-MS/MS method for the determination of zopiclone, N-desmethylzopiclone and 2-amino-5-chloropyridine in whole blood and its application to estimate the original zopiclone concentration in stored specimens
- 2015
-
Ingår i: International journal of legal medicine. - : Springer. - 0937-9827 .- 1437-1596. ; 129:2, s. 269-277
-
Tidskriftsartikel (refereegranskat)abstract
- 2-amino-5-chloropyridine (ACP) is a degradation product of zopiclone (ZOP) and may be formed when blood specimens are stored. ZOP instability in blood makes interpretation of concentrations difficult especially in cases of prolonged sample storage. This study investigated how ACP could be used to estimate the original concentration of ZOP in authentic samples. For that purpose, an analytical LC-MS/MS method for the quantitation of ACP, ZOP and the metabolite Ndesmethylzopiclone (NDZOP) in blood was validated. The method was then applied to investigate ACP formation, ZOP and NDZOP degradation in stored ZOP post-dosed authentic whole blood and two mathematical models were used to calculate the original concentration of ZOP. During storage, ACP was formed in amounts equimolar to the ZOP and NDZOP degradation. Results from samples in which ACP had been formed were used to test two models to estimate the original ZOP concentration. The correlation tests of the models showed strong correlations to the original ZOP concentration (r=0.960 and r=0.955) with p<0.01. This study showed that the equimolar degradation of ZOP and NDZOP to ACP could be used to estimate the original concentration of the unstable ZOP.
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| 34. |
- Olofsson, Emma, 1981-, et al.
(författare)
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Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies
- 2023
-
Ingår i: International journal of legal medicine. - : Springer. - 0937-9827 .- 1437-1596. ; 137:4, s. 1215-1234
-
Tidskriftsartikel (refereegranskat)abstract
- Forensic molecular autopsies have emerged as a tool for medical examiners to establish the cause of death. It is particularly useful in sudden unexplained deaths where the cause of death cannot be determined with a regular medical autopsy. We provide the first study of exome data from formalin-fixed paraffin-embedded samples (FFPE) paired with data from high-quality blood samples in forensic applications. The approach allows exploration of the potential to use FFPE samples for molecular autopsies and identify variants in extensive exome data. We leverage the high uniformity of the hybridization capture approach provided by Twist Bioscience to target the complete exome and sequence the libraries on a NextSeq 550. Our findings suggest that exome sequencing is feasible for 24 out of a total of 35 included FFPE samples. When successful, the coverage across the exome is comparatively high (> 90% covered to 20X) and uniform (fold80 below 1.5). Detailed variant comparisons for matched FFPE and blood samples show high concordance with few false variants (positive predictive value of 0.98 and a sensitivity of 0.97) with no distinct FFPE artefacts. Ultimately, we apply carefully constructed forensic gene panels in a stepwise manner to find genetic variants associated with the clinical phenotype and with relevance to the sudden unexplained death.
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| 35. |
- Persson, Anders, et al.
(författare)
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Temperature-corrected postmortem 3-T MR quantification of histopathological early acute and chronic myocardial infarction: a feasibility study
- 2018
-
Ingår i: International journal of legal medicine. - : SPRINGER. - 0937-9827 .- 1437-1596. ; 132:2, s. 541-549
-
Tidskriftsartikel (refereegranskat)abstract
- The goal of the present study was to evaluate if quantitative postmortem cardiac 3-T magnetic resonance (QPMCMR) T1 and T2 relaxation times and proton density values of histopathological early acute and chronic myocardial infarction differ to the quantitative values of non-pathologic myocardium and other histopathological age stages of myocardial infarction with regard to varying corpse temperatures. In 60 forensic corpses (25 female, 35 male), a cardiac 3-T MR quantification sequence was performed prior to autopsy and cardiac dissection. Core body temperature was assessed during MR examinations. Focal myocardial signal alterations in synthetically generated MR images were measured for their T1, T2, and proton density (PD) values. Locations of signal alteration measurements in PMCMR were targeted at heart dissection, and myocardial tissue specimens were taken for histologic examinations. Quantified signal alterations in QPMCMR were correlated to their according histologic age stage of myocardial infarction, and quantitative values were corrected for a temperature of 37 A degrees C. In QPMCMR, 49 myocardial signal alterations were detected in 43 of 60 investigated hearts. Signal alterations were diagnosed histologically as early acute (n = 16), acute (n = 10), acute with hemorrhagic component (n = 9), subacute (n = 3), and chronic (n = 11) myocardial infarction. Statistical analysis revealed that based on their temperature-corrected quantitative T1, T2, and PD values, a significant difference between early acute, acute, and chronic myocardial infarction can be determined. It can be concluded that quantitative 3-T postmortem cardiac MR based on temperature-corrected T1, T2, and PD values may be feasible for pre-autopsy diagnosis of histopathological early acute, acute, and chronic myocardial infarction, which needs to be confirmed histologically.
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| 36. |
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| 37. |
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| 38. |
- Schwendener, Nicole, et al.
(författare)
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Temperature-corrected post-mortem 1.5 T MRI quantification of non-pathologic upper abdominal organs
- 2017
-
Ingår i: International journal of legal medicine. - : SPRINGER. - 0937-9827 .- 1437-1596. ; 131:5, s. 1369-1376
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Tidskriftsartikel (refereegranskat)abstract
- The present study aimed to evaluate if simultaneous temperature-corrected T1, T2, and proton density (PD) 1.5 T post-mortem MR quantification [quantitative post-mortem magnetic resonance imaging (QPMMRI)] is feasible for characterizing and discerning non-pathologic upper abdominal organs (liver, spleen, pancreas, kidney) with regard to varying body temperatures. QPMMRI was performed on 80 corpses (25 females, 55 males; mean age 56.2 years, SD 17.2) prior to autopsy. Core body temperature was measured during QPMMRI. Quantitative T1, T2, and PD values were measured in the liver, pancreas, spleen, and left kidney and temperature corrected to 37 A degrees C. Histologic examinations were conducted on each measured organ to determine non-pathologic organs. Quantitative T1, T2, and PD values of non-pathologic organs were ANOVA tested against values of other non-pathologic organ types. Based on temperature-corrected quantitative T1, T2, and PD values, ANOVA testing verified significant differences between the non-pathologic liver, spleen, pancreas, and left kidneys. Temperature-corrected 1.5 T QPMMRI based on T1, T2, and PD values may be feasible for characterization and differentiation of the non-pathologic liver, spleen, pancreas, and kidney. The results may provide a base for future specific pathology diagnosis of upper abdominal organs in post-mortem imaging.
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| 39. |
- Squier, Waney, et al.
(författare)
-
Response to Colombari et al. (2021)
- 2022
-
Ingår i: International journal of legal medicine. - : Springer. - 0937-9827 .- 1437-1596. ; 136
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 40. |
- Staadig, Adam, et al.
(författare)
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Evaluation of microhaplotypes in forensic kinship analysis from a Swedish population perspective
- 2021
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Ingår i: International journal of legal medicine. - : SPRINGER. - 0937-9827 .- 1437-1596. ; 135:4, s. 1151-1160
-
Tidskriftsartikel (refereegranskat)abstract
- The development of massively parallel sequencing (MPS) technology has enabled the discovery of several new types of forensic markers where microhaplotypes are one of these promising novel genetic markers. Microhaplotypes are, commonly, less than 300 nucleotides in length and consist of two or more closely linked single-nucleotide polymorphisms (SNPs). In this study, we have examined a custom-made QIAseq Microhaplotype panel (Qiagen), including 45 different microhaplotype loci. DNA libraries were prepared according to the GeneRead DNAseq Targeted Panels V2 library preparation workflow (Qiagen) and sequenced on a MiSeq FGx instrument (Verogen). We evaluated the performance of the panel based on 75 samples of Swedish origin and haplotype frequencies were established. We performed sensitivity studies and could detect haplotypes at input amounts down to 0.8 ng. We also studied mixture samples with two contributors for which haplotypes, for the minor contributor, were detectable down to the level of 1:100. Furthermore, we executed kinship simulations to evaluate the usefulness of this panel in kinship analysis. The results showed that both paternity and full sibling cases can clearly be solved. When simulating a half sibling versus unrelated case scenario, there were, however, some overlap of the likelihood ratio distributions potentially resulting in inconclusiveness. To conclude, the results of this initial study are promising for further implementation of this microhaplotype assay into the forensic field, although we noticed some primer design issues that could be optimized, which possibly would increase the power of the assay.
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| 41. |
- Stattin, Eva-Lena, et al.
(författare)
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Genetic screening in sudden cardiac death in the young can save future lives
- 2016
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Ingår i: International Journal of Legal Medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 130:1, s. 59-66
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Tidskriftsartikel (refereegranskat)abstract
- Autopsy of sudden cardiac death (SCD) in the young shows a structurally and histologically normal heart in about one third of cases. Sudden death in these cases is believed to be attributed in a high percentage to inherited arrhythmogenic diseases. The purpose of this study was to investigate the value of performing post-mortem genetic analysis for autopsy-negative sudden unexplained death (SUD) in 1 to 35 year olds. From January 2009 to December 2011, samples from 15 cases suffering SUD were referred to the Department of Clinical Genetics, UmeAyen University Hospital, Sweden, for molecular genetic evaluation. PCR and bidirectional Sanger sequencing of genes important for long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome type 1 (BrS1), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and RYR2) was performed. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large deletions or duplications in the LQTS genes. Six pathogenic sequence variants (four LQTS and two CPVT) were discovered in 15 SUD cases (40 %). Ten first-degree family members were found to be mutation carriers (seven LQTS and three CPVT). Cardiac ion channel genetic testing in autopsy-negative sudden death victims has a high diagnostic yield, with identification of the disease in 40 % of families. First-degree family members should be offered predictive testing, clinical evaluation, and treatment with the ultimate goal to prevent sudden death.
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| 42. |
- Söderberg, Carl, et al.
(författare)
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Postmortem reference concentrations of 68 elements in blood and urine
- 2023
-
Ingår i: International journal of legal medicine. - : Springer Science and Business Media Deutschland GmbH. - 0937-9827 .- 1437-1596. ; 137, s. 655-669
-
Tidskriftsartikel (refereegranskat)abstract
- Introduction: Fatal intoxications, both accidental and intentional, are a global issue. In the Western world, intoxications with pharmaceuticals dominate, but in other parts of the world, other substances are more common. In a forensic setting, elemental intoxications are of great importance when investigating both accidental, suicidal, and homicidal deaths. The current study presents normal postmortem reference concentrations of 68 elements in femoral blood and urine. In addition, possible sources of error such as contamination from sample tubes, preservative potassium fluoride (KF) solution, and storage time are evaluated.Methods: Paired femoral blood and urine samples from 120 cases of death by suicidal hanging in Sweden were collected. Additionally, multiple batches of sample tubes and multiple batches of KF solution were also analyzed. Concentrations of elements were determined by double focusing sector field ICP-MS.Results: Key descriptive statistics for 68 elements are provided in blood and urine. Contamination from sample tubes was minor compared to the overall mean elemental concentrations in both blood and urine. KF solution contained a large assortment of elements, but the overall contribution is relatively minor for most elements given the small amounts of solution added to samples. There were significant differences for 22 elements in blood and 17 elements in urine between samples with short and long storage time.Conclusion: The present study provides an important tool when evaluating postmortem elemental concentrations. It fills a needed gap between large antemortem population studies and postmortem case reports or small case series of elemental intoxications.
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| 43. |
- Tillmar, Andreas, et al.
(författare)
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Homogeneity in mitochondrial DNA control region sequences in Swedish subpopulations
- 2010
-
Ingår i: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 124:2, s. 91-98
-
Tidskriftsartikel (refereegranskat)abstract
- In order to promote mitochondrial DNA (mtDNA) testing in Sweden we have typed 296 Swedish males, which will serve as a Swedish mtDNA frequency database. The tested males were taken from seven geographically different regions representing the contemporary Swedish population. The complete mtDNA control region was typed and the Swedish population was shown to have high haplotype diversity with a random match probability of 0.5%. Almost 47% of the tested samples belonged to haplogroup H and further haplogroup comparison with worldwide populations clustered the Swedish mtDNA data together with other European populations. AMOVA analysis of the seven Swedish subregions displayed no significant maternal substructure in Sweden (F (ST) = 0.002). Our conclusion from this study is that the typed Swedish individuals serve as good representatives for a Swedish forensic mtDNA database. Some caution should, however, be taken for individuals from the northernmost part of Sweden (provinces of Norrbotten and Lapland) due to specific demographic conditions. Furthermore, our analysis of a small sample set of a Swedish Saami population confirmed earlier findings that the Swedish Saami population is an outlier among European populations.
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| 44. |
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| 45. |
- 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
-
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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| 46. |
- Zech, Wolf-Dieter, et al.
(författare)
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Post-mortem 1.5T MR quantification of regular anatomical brain structures
- 2016
-
Ingår i: International journal of legal medicine. - : Springer. - 0937-9827 .- 1437-1596. ; 130:4, s. 1071-1080
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Tidskriftsartikel (refereegranskat)abstract
- Recently, post-mortem MR quantification has been introduced to the field of post-mortem magnetic resonance imaging. By usage of a particular MR quantification sequence, T1 and T2 relaxation times and proton density (PD) of tissues and organs can be quantified simultaneously. The aim of the present basic research study was to assess the quantitative T1, T2, and PD values of regular anatomical brain structures for a 1.5T application and to correlate the assessed values with corpse temperatures. In a prospective study, 30 forensic cases were MR-scanned with a quantification sequence prior to autopsy. Body temperature was assessed during MR scans. In synthetically calculated T1, T2, and PD-weighted images, quantitative T1, T2 (both in ms) and PD (in %) values of anatomical structures of cerebrum (Group 1: frontal gray matter, frontal white matter, thalamus, internal capsule, caudate nucleus, putamen, and globus pallidus) and brainstem/cerebellum (Group 2: cerebral crus, substantia nigra, red nucleus, pons, cerebellar hemisphere, and superior cerebellar peduncle) were assessed. The investigated brain structures of cerebrum and brainstem/cerebellum could be characterized and differentiated based on a combination of their quantitative T1, T2, and PD values. MANOVA testing verified significant differences between the investigated anatomical brain structures among each other in Group 1 and Group 2 based on their quantitative values. Temperature dependence was observed mainly for T1 values, which were slightly increasing with rising temperature in the investigated brain structures in both groups. The results provide a base for future computer-aided diagnosis of brain pathologies and lesions in post-mortem magnetic resonance imaging.
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| 47. |
- Zech, Wolf-Dieter, et al.
(författare)
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Postmortem quantitative 1.5-T MRI for the differentiation and characterization of serous fluids, blood, CSF, and putrefied CSF
- 2015
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Ingår i: International journal of legal medicine. - : Springer. - 0937-9827 .- 1437-1596. ; 129:5, s. 1127-1136
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of the present study was to investigate whether serous fluids, blood, cerebrospinal fluid (CSF), and putrefied CSF can be characterized and differentiated in synthetically calculated magnetic resonance (MR) images based on their quantitative T (1), T (2), and proton density (PD) values. Images from 55 postmortem short axis cardiac and 31 axial brain 1.5-T MR examinations were quantified using a quantification sequence. Serous fluids, fluid blood, sedimented blood, blood clots, CSF, and putrefied CSF were analyzed for their mean T (1), T (2), and PD values. Body core temperature was measured during the MRI scans. The fluid-specific quantitative values were related to the body core temperature. Equations to correct for temperature differences were generated. In a 3D plot as well as in statistical analysis, the quantitative T (1), T (2) and PD values of serous fluids, fluid blood, sedimented blood, blood clots, CSF, and putrefied CSF could be well differentiated from each other. The quantitative T (1) and T (2) values were temperature-dependent. Correction of quantitative values to a temperature of 37 A degrees C resulted in significantly better discrimination between all investigated fluid mediums. We conclude that postmortem 1.5-T MR quantification is feasible to discriminate between blood, serous fluids, CSF, and putrefied CSF. This finding provides a basis for the computer-aided diagnosis and detection of fluids and hemorrhages.
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| 48. |
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| 49. |
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| 50. |
- 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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