38 research outputs found

    Editorial

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    Darts are constantly gaining in popularity. However, their risk of injury is often underestimated. This report is about a juvenile who suffered from a severe eye injury including the opening of the eye bulb. The attending ophthalmologists ruled out the possibility that this kind of injury could be caused by a dart with a plastic point. However, by reconstructing the course of action and throwing darts at porcine eyes, the forensic medical advisory opinion was able to state that darts with damaged plastic points may cause the exact same form of injury. This casuistic illustrates the essential significance of forensic-traumatological knowledge and, especially in the case of rare injury patterns, case-related practical experiments

    CMV-DNA DETECTION IN PARENCHYMATOUS ORGANS IN CASES OF SIDS

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    A nested PCR approach has been developed especially for the detection of small amounts of cytomegalovirus (CMV) DNA in autopsy samples. Lung tissue and submandibular glands in 118 cases of infant death (92 SIDS cases, 13 natural deaths due to other defined causes and 13 unnatural deaths) were investigated by this technique and compared to the results obtained by other CMV detection methods (histology, immunohistochemistry, in situ hybridization and PCR). CMV-DNA could be detected in the lung tissue in 7 cases of SIDS using nested PCR. Compared to conventional PCR (3 positive cases in lung tissue) the nested approach always gave glear results and showed less additional bands. In all cases where CMV could be detected in the lungs, positive results were also obtained in the submandibular glands. The nested PCR method proved to be a more sensitive technique than the other detection methods including PCR and hot start, and even minimal amounts of target DNA could be detected in the presence of human and bacterial background DNA

    Performance des PyroMark Q48 FX Age Assay auf zwei unterschiedlichen Pyrosequenzierplattformen

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    <jats:title>Zusammenfassung</jats:title><jats:sec> <jats:title>Hintergrund</jats:title> <jats:p>Der PyroMark Q48 FX Age Assay (Qiagen, Hilden, Deutschland) wurde von der Fa. Qiagen GmbH als kommerziell erhältliches Kit für die molekulare Altersschätzung auf der Grundlage von DNA-Methylierungsanalysen mithilfe eines PyroMark Q48 Autoprep (Qiagen, Hilden, Deutschland) vorgestellt.</jats:p> </jats:sec><jats:sec> <jats:title>Fragestellung</jats:title> <jats:p>Vergleichbarkeit und Anwendbarkeit des PyroMark Q48 FX Age Assay auf den 2 unterschiedlichen Pyrosequenzierplattformen PyroMark Q48 Autoprep und PyroMark Q96 MD.</jats:p> </jats:sec><jats:sec> <jats:title>Material und Methoden</jats:title> <jats:p>Es wurden 28 Mundschleimhautabriebe (MSA) und 15 Blutproben mithilfe des PyroMark Q48 FX Age Assay auf 2 Pyrosequenzierplattformen analysiert und jeweils eine Altersschätzung über das Schätzmodell von Zbiec-Piekarska et al. (2015) durchgeführt<jats:italic>.</jats:italic></jats:p> </jats:sec><jats:sec> <jats:title>Ergebnisse</jats:title> <jats:p>Die DNA-Methylierungswerte in den 5 Cytosin-Phosphat-Guanin(CpG)-Stellen wiesen beim Vergleich beider Geräte signifikante Unterschiede auf, wobei die DNA-Methylierungslevel des PyroMark Q96 MD sowohl in MSA als auch in den Blutproben höher waren als für den PyroMark Q48 Autoprep. So zeigte sich bei den MSA eine mittlere Abweichung der DNA-Methylierungswerte der beiden Geräte von 10,6 %, wohingegen diese bei den Blutproben 7,4 % betrug. Bei der Altersschätzung der Blutproben konnten jedoch keine deutlichen Unterschiede zwischen den Pyrosequenzern im Hinblick auf die Schätzgenauigkeit identifiziert werden. Hier beträgt die mittlere absolute Abweichung 7,9 (PyroMark Q48 Autoprep) bzw. 8,1 Jahre (PyroMark Q96 MD).</jats:p> </jats:sec><jats:sec> <jats:title>Schlussfolgerung</jats:title> <jats:p>Die aufgetretenen Unterschiede in den DNA-Methylierungswerten sowohl bei den Blutproben als auch den MSA verdeutlichen die Schwierigkeit der Vergleichbarkeit von DNA-Methylierungswerten aus unterschiedlichen Geräten. Für die Verwendung dieses Assays mit anderen Pyrosequenziergeräten müssten weitere Proben analysiert werden, um mögliche signifikante Unterschiede detektieren zu können.</jats:p> </jats:sec&gt

    Studentische Ausbildung im Fach Rechtsmedizin in Deutschland: PrĂĽfungen und Evaluation

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    The implementation of the Medical Licensure Act in 2002 led to remarkable changes in teaching, testing and evaluation in undergraduate medical education. Using an online questionnaire the current situation among German institutes for forensic medicine was evaluated. The return rate of the questionnaires was 80%. The results point at a preponderance of testing of factual knowledge. A change to testing of practical skills appears necessary to match the learning objectives of practical teaching. The evaluation results represent a high level of student contentment with teaching in forensic medicine. Clinical electives can be offered by more of 90% of the institutes. Teaching time in forensic medicine is thought to be inadequate by a relevant number of institutes

    CMV-DNA DETECTION IN PARENCHYMATOUS ORGANS IN CASES OF SIDS

    No full text
    A nested PCR approach has been developed especially for the detection of small amounts of cytomegalovirus (CMV) DNA in autopsy samples. Lung tissue and submandibular glands in 118 cases of infant death (92 SIDS cases, 13 natural deaths due to other defined causes and 13 unnatural deaths) were investigated by this technique and compared to the results obtained by other CMV detection methods (histology, immunohistochemistry, in situ hybridization and PCR). CMV-DNA could be detected in the lung tissue in 7 cases of SIDS using nested PCR. Compared to conventional PCR (3 positive cases in lung tissue) the nested approach always gave glear results and showed less additional bands. In all cases where CMV could be detected in the lungs, positive results were also obtained in the submandibular glands. The nested PCR method proved to be a more sensitive technique than the other detection methods including PCR and hot start, and even minimal amounts of target DNA could be detected in the presence of human and bacterial background DNA

    Methodology for the identification of vulnerable asylum seekers

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    Asylum seekers often experience situations of vulnerability, being frequently exposed to a heightened risk of harm, and thus require special care, support and protection. The categories of â\u80\u9cvulnerable personsâ\u80\u9d, identified by International Legislation, and an individualâ\u80\u99s classification as a â\u80\u9cvulnerable asylum seekerâ\u80\u9d, have important implications in the reception procedures, in the decision-making phase and in the definition of therapeutic needs and rehabilitation. The Istanbul Protocol, the first international guideline approved by the United Nations and applied in different contexts, is not applicable for the assessment of the totality of the conditions (medical and otherwise), and therefore, the identification and assessment of conditions of vulnerability is largely delegated to questionnaires administered by non-medical personnel. The proposed methodology, based on the modificatory reworking of the Guidelines of the International Academy of Legal Medicine concerning the â\u80\u9cmedicolegal ascertainment of personal injury and damage on the living personâ\u80\u9d, takes into consideration all the medical issues relevant for the decision concerning the applicant, both in the reception procedures and in the outcome of the asylum application

    Vibration as a pitfall in pyrosequencing analyses

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    Since methylation analysis has become an important tool in forensic genetics, the reliability and credibility of the method must be ensured. After a successful validation and establishment of several pyrosequencing assays using a PyroMark® Q48 Autoprep instrument (Qiagen, Hilden, Germany), we decided to expand the method further purchasing a second instrument. But after initializing this second instrument side by side with the first, the majority of analyses failed (97 samples of 133 samples (73%)). The number of error messages increased rapidly and the average RFU values decreased. After purchasing two anti-vibration weighing tables for the PyroMark® instruments and repeating the analyses under the same conditions and with identical samples the results improved considerably, 115 samples of 130 samples (88%) showed successful and reproducible results. These findings demonstrate the impact of vibrations and percussions on PyroMark® Q48 Autoprep performance and the reliability of methylation analyses

    Post-mortem genetic investigation of cardiac disease–associated genes in sudden infant death syndrome (SIDS) cases

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    The sudden infant death syndrome (SIDS) is one of the leading causes of postneonatal infant death. It has been shown that there exists a complex relationship between SIDS and inherited cardiac disease. Next-generation sequencing and surveillance of cardiac channelopathy and cardiomyopathy genes represent an important tool for investigating the cause of death in SIDS cases. In the present study, targeted sequencing of 80 genes associated with genetic heart diseases in a cohort of 31 SIDS cases was performed. To determine the spectrum and prevalence of genetic heart disease associated mutations as a potential monogenic basis for SIDS, a stringent variant classification was applied and the percentage of rare (minor allele frequency ≤ 0.2%) and ultra-rare variants (minor allele frequency ≤ 0.005%) in these genes was assessed. With a minor allele frequency of ≤ 0.005%, about 20% of the SIDS cases exhibited a variant of uncertain significance (VUS), but in only 6% of these cases, gene variants proved to be “potentially informative.” The present study shows the importance of careful variant interpretation. Applying stringent criteria misinterpretations are avoided, as the results of genetic analyses may have an important impact of the family members involved
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