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103
result(s) for
"Pfeiffer, Heidi"
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Enhanced possibilities to make statements on the ossification status of the medial clavicular epiphysis using an amplified staging scheme in evaluating thin-slice CT scans
by
Schmeling, Andreas
,
Schmidt, Sven
,
Schulz, Ronald
in
Adolescent
,
Adult
,
Age Determination by Skeleton - methods
2010
Thin-slice computed tomography provides the imaging modality of choice in analysing the ossification process of the medial clavicular epiphysis for the purpose of forensic age diagnostics in the living in the course of criminal proceedings. The classification of the ossification stages by Schmeling et al. compass the emergence of an epiphyseal ossification centre (stage 2), the partial fusion of the epiphysis with the metaphysis (stage 3), the complete fusion of these osseous elements including a visible epiphyseal scar (stage 4), and the complete fusion without a visible epiphyseal scar (stage 5). In the present study, each of the ossification stages 2 and 3 was divided into an early, intermediate and late phase. The authors evaluated the thin-slice CT scans of 185 patients aged between 13 and 26 years. In all these cases, a stage 2 or 3 had been determined in a previous study. The late stage 3, which is characterized by a fusion between metaphysis and epiphysis completing more than two thirds of the former epiphyseal gap, first appeared at age 19 in both sexes. If a late stage 3 is found, it is therefore possible to substantiate that an individual has already reached the legally important age threshold of 18 years.
Journal Article
Elevated germline mutation rate in teenage fathers
2015
Men age and die, while cells in their germline are programmed to be immortal. To elucidate how germ cells maintain viable DNA despite increasing parental age, we analysed DNA from 24 097 parents and their children, from Europe, the Middle East and Africa. We chose repetitive microsatellite DNA that mutates (unlike point mutations) only as a result of cellular replication, providing us with a natural ‘cell-cycle counter’. We observe, as expected, that the overall mutation rate for fathers is seven times higher than for mothers. Also as expected, mothers have a low and lifelong constant DNA mutation rate. Surprisingly, however, we discover that (i) teenage fathers already set out from a much higher mutation rate than teenage mothers (potentially equivalent to 77–196 male germline cell divisions by puberty); and (ii) ageing men maintain sperm DNA quality similar to that of teenagers, presumably by using fresh batches of stem cells known as ‘A-dark spermatogonia’.
Journal Article
Sonographic evaluation of apophyseal ossification of the iliac crest in forensic age diagnostics in living individuals
by
Schmeling, Andreas
,
Schmidt, Sven
,
Schulz, Ronald
in
Adolescent
,
Age Determination by Skeleton - methods
,
Child
2011
Due to the requirement to minimise exposure to radiation, it is desirable to develop non-ionising imaging procedures for the analysis of skeletal maturation for forensic age diagnostics in living individuals. The present pilot study analyses the applicability of ultrasound examinations for the evaluation of apophyseal ossification of the iliac crest. With reference to the sonographic staging of clavicular ossification, the maturation stages of the iliac crest apophysis of 23 male and 16 female subjects, aged 11–20 years, were determined. Ossification stage I occurred in the male subjects at a minimum age of 15.7 years. Ossification stage II was diagnosed in boys at a minimum age of 14.1 years and in girls at a minimum age of 11.7 years. The earliest observation of ossification stage III was at a chronological age of 16.2 years in males and 15.2 years in females. The earliest age of occurrence of ossification stage IV was at least 18.0 years in male test persons and at least 17.1 years in female test persons. The results obtained should be reassessed in a larger number of cases. It is to be expected that sonographic examination of the iliac crest apophysis will become established as a valid and efficient method for forensic age diagnostics in living individuals.
Journal Article
Back to the Future - Part 1. The medico-legal autopsy from ancient civilization to the post-genomic era
by
Shokry, Dina
,
Cecchetto, Giovanni
,
Grabherr, Silke
in
Alloys
,
Anatomy - history
,
Ancient civilizations
2017
Part 1 of the review “
Back to the Future
” examines the historical evolution of the medico-legal autopsy and microscopy techniques, from Ancient Civilization to the Post-Genomic Era. In the section focusing on “
The Past
”, the study of historical sources concerning the origins and development of the medico-legal autopsy, from the Bronze Age until the Middle Ages, shows how, as early as 2000 BC, the performance of autopsies for medico-legal purposes was a known and widespread practice in some ancient civilizations in Egypt, the Far East and later in Europe. In the section focusing on “
The Present
”, the improvement of autopsy techniques by Friedrich Albert Zenker and Rudolf Virchow and the contemporary development of optical microscopy techniques for forensic purposes during the 19th and 20th centuries are reported, emphasizing, the regulation of medico-legal autopsies in diverse nations around the world and the publication of international guidelines or best practices elaborated by International Scientific Societies. Finally, in “The Future” section, innovative robotized and advanced microscopy systems and techniques, including their possible use in the bio-medicolegal field, are reported, which should lead to the improvement and standardization of the autopsy methodology, thereby achieving a more precise identification of natural and traumatic pathologies.
Journal Article
Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples
2023
BackgroundThe out-of-hospital cardiac arrest (OHCA) in the young may be associated with a genetic predisposition which is relevant even for genetic counseling of relatives. The identification of genetic variants depends on the availability of intact genomic DNA. DNA from autopsy may be not available due to low autopsy frequencies or not suitable for high-throughput DNA sequencing (NGS). The emergency medical service (EMS) plays an important role to save biomaterial for subsequent molecular autopsy. It is not known whether the DNA integrity of samples collected by the EMS is better suited for NGS than autopsy specimens.Material and methodsDNA integrity was analyzed by standardized protocols. Fourteen blood samples collected by the EMS and biomaterials from autopsy were compared. We collected 172 autopsy samples from different tissues and blood with postmortem intervals of 14–168 h. For comparison, DNA integrity derived from blood stored under experimental conditions was checked against autopsy blood after different time intervals.ResultsDNA integrity and extraction yield were higher in EMS blood compared to any autopsy tissue. DNA stability in autopsy specimens was highly variable and had unpredictable quality. In contrast, collecting blood samples by the EMS is feasible and delivered comparably the highest DNA integrity.ConclusionsIsolation yield and DNA integrity from blood samples collected by the EMS is superior in comparison to autopsy specimens. DNA from blood samples collected by the EMS on scene is stable at room temperature or even for days at 4 °C. We conclude that the EMS personnel should always save a blood sample of young fatal OHCA cases died on scene to enable subsequent genetic analysis.
Journal Article
Who Is at Risk for Diagnostic Discrepancies? Comparison of Pre- and Postmortal Diagnoses in 1800 Patients of 3 Medical Decades in East and West Berlin
by
Stenzinger, Albrecht
,
Kimmritz, Anna-Christin
,
Denkert, Carsten
in
Autopsies
,
Autopsy
,
Biology
2012
Autopsy rates in Western countries consistently decline to an average of <5%, although clinical autopsies represent a reasonable tool for quality control in hospitals, medically and economically. Comparing pre- and postmortal diagnoses, diagnostic discrepancies as uncovered by clinical autopsies supply crucial information on how to improve clinical treatment. The study aimed at analyzing current diagnostic discrepancy rates, investigating their influencing factors and identifying risk profiles of patients that could be affected by a diagnostic discrepancy.
Of all adult autopsy cases of the Charité Institute of Pathology from the years 1988, 1993, 1998, 2003 and 2008, the pre- and postmortal diagnoses and all demographic data were analyzed retrospectively. Based on power analysis, 1,800 cases were randomly selected to perform discrepancy classification (class I-VI) according to modified Goldman criteria. The rate of discrepancies in major diagnoses (class I) was 10.7% (95% CI: 7.7%-14.7%) in 2008 representing a reduction by 15.1%. Subgroup analysis revealed several influencing factors to significantly correlate with the discrepancy rate. Cardiovascular diseases had the highest frequency among class-I-discrepancies. Comparing the 1988-data of East- and West-Berlin, no significant differences were found in diagnostic discrepancies despite an autopsy rate differing by nearly 50%. A risk profile analysis visualized by intuitive heatmaps revealed a significantly high discrepancy rate in patients treated in low or intermediate care units at community hospitals. In this collective, patients with genitourinary/renal or infectious diseases were at particularly high risk.
This is the current largest and most comprehensive study on diagnostic discrepancies worldwide. Our well-powered analysis revealed a significant rate of class-I-discrepancies indicating that autopsies are still of value. The identified risk profiles may aid both pathologists and clinicians to identify patients at increased risk for a discrepant diagnosis and possibly suboptimal treatment intra vitam.
Journal Article
Cameriere’s approach modified for pelvic radiographs: a novel method to assess apophyseal iliac crest ossification for the purpose of forensic age diagnostics
by
Schmeling, Andreas
,
Wittschieber, Daniel
,
Wierer, Traugott
in
Adolescent
,
Adult
,
Age Determination by Skeleton - methods
2013
According to a modified method originally developed by Cameriere et al. (Int J Legal Med 120:143–146, 2006; J Forensic Sci 52:1151–1155, 2007; Forensic Sci Int 174:59–62, 2008; Forensic Sci Int 174:178–181, 2008; Forensic Sci Int 193:128.e1–128.e6, 2009), the suitability of the iliac crest apophysis (ICA) for the purpose of forensic age estimation in living individuals was investigated by means of area measurements in 643 pelvic radiographs of patients aged between 10 and 30 years. The area of the ossification centre(s) of the iliac crest and the area of the iliac wing (IW) were determined by manual segmentation. In 116 cases, area measurements were possible. ICA/IW ratios were calculated and used for regression analyses, yielding different regression equations. Depending on sex, pelvic side and ratio considered,
R
2
ranged between 0.20 and 0.38 and the standard error of the estimate, between 1.91 and 2.00 years. No statistical significant differences were found between the right and the left pelvic sides. In conclusion, this method is potentially applicable for forensic age estimation in living individuals. However, further studies under more standardised conditions and with higher case numbers are needed in order to decide whether the iliac crest apophysis might become suitable for routine age diagnostics.
Journal Article
Back to the Future - Part 2. Post-mortem assessment and evolutionary role of the bio-medicolegal sciences
by
Shokry, Dina
,
Cecchetto, Giovanni
,
Grabherr, Silke
in
Academic disciplines
,
Chemistry Techniques, Analytical
,
Databases, Nucleic Acid
2017
Part 2 of the review “
Back to the Future
” is dedicated to the evolutionary role of the bio-medicolegal sciences, reporting the historical profiles, the state of the art, and prospects for future development of the main related techniques and methods of the ancillary disciplines that have risen to the role of “
autonomous
” sciences, namely, Genetics and Genomics, Toxicology, Radiology, and Imaging, involved in historic synergy in the “
post-mortem assessment
,” together with the mother discipline Legal Medicine, by way of its primary fundament, universally denominated as Forensic Pathology. The evolution of the scientific research and the increased accuracy of the various disciplines will be oriented towards the elaboration of an
“algorithm,”
able to weigh the value of “
evidence
” placed at the disposal of the “
justice system
” as real truth and proof.
Journal Article
Morphological identification of right ventricular failure in cases of fatal pulmonary thromboembolism
2011
Pulmonary thromboembolism is a life-threatening event potentially determining right ventricular failure. Even if the pathophysiology of this phenomenon has been widely investigated, no morphological demonstration of right ventricular ischemic damage determining right ventricular failure in cases of fatal pulmonary embolism has been reported till now. We performed an immunohistochemical investigation with the markers fibronectin and C5b-9 in 26 cases of fatal pulmonary thromboembolism (16 ♀, 10 ♂, mean age 56.4 years), as well as in 25 cases of myocardial infarction (16♀, 9♂, mean age 60.8 years) and 20 cases of hanging (3♀, 17♂, mean age 40.8 years). In each case, at least one tissue slide from both cardiac ventricles (free wall of the right ventricle, anterior and/or posterior wall of the left ventricle) was prepared. The reactions were semiquantitatively classified and the groups compared. In the study group, the occurrence of ischemic changes at the right ventricle was significantly higher than in cases of myocardial infarction and global hypoxia due to hanging. The determining aspect of the immunohistochemical examination is the identification of the prevalent ischemic lesion at the right ventricle compared to the left one. This may indicate the primary involvement of the right ventricle thus demonstrating a right ventricular failure.
Journal Article