Mutationssuche mittels Positionsklonierung bei einer bisher unbekannten, autosomal rezessiv vererbten Form der Mentalen Retardierung

I investigated a consanguineous family with several patients affected by severe mental retardation. The healthy parents were first cousins. Two out of their four living children were affected by cerebral malformation, mental retardation, hypertrichosis, spasticity and psychomotor retardation. A further offspring of the parents was aborted because of cerebral malformation. I performed a genome wide linkage analysis in the family and conducted a haplotype-analysis. With fine-mapping of the DNA of the affected children I could further narrow down the homozygous regions. By database analysis I evalutated and determined candidate genes from the linked homozygous region which I subsequently sequenced in order to detect the disease causing mutation. In the genes analysed no disease causing mutation could be found. Nevertheless I detected heterozygous SNPs in the initially linked region which diminished the homozygous interval and thus the number of candidate genes.Bei dem Patientengut handelt es sich um ein Paar konsanguiner Eltern (Cousin/Cousine 1. Grades), die zwei gesunde sowie zwei betroffene Kinder mit Hirnanlagestörung, Mentaler Retardierung, Hypertrichose, hypertoner Spastik und psychomotorischer Retardierung haben. Zudem hatte bereits ein Abort bei intrauterin festgestellten Hirnanlagestörungen stattgefunden. Mit der DNA der Familie wurde zunächst eine genomweite Kopplungsanalyse sowie eine Haplotypisierung durchgeführt, um mögliche, Mutations-beinhaltende Regionen zu bestimmen. Mit der DNA der betroffenen Kinder erfolgte zusätzlich eine Feinkartierung der gekoppelten Bereiche zur weiteren Einengung der homozygoten Bereiche. Im ausgewählten Kopplungsbereich wurden Kandidatengene bestimmt und sequenziert. Die Sequenzen wurden im Vergleich zu einer familienfremden Kontroll-DNA ausgewertet. Eine das Krankheitsbild verursachende Mutation konnte ich in den untersuchten Genen nicht finden. Ich konnte jedoch zahlreiche SNPs darstellen, die zum Teil noch nicht publiziert worden sind

Cost-effective 3D documentation device in forensic medicine

3D documentation in forensics and forensic medicine is being introduced more frequently in various institutes around the world. However, several institutes lack capacity in finances as well as staff to perform 3D documentations regularly. This technical paper aims to present a 3D documentation device that is low cost and easy to use and is a viable entry level solution for forensic medical departments. For this the small single-board computer Raspberry Pi 4 was used in conjunction with its high quality (HQ) camera module to create the 3DLamp - a flexible, low cost and easy to use documentation device. Besides a detailed description of the device this paper also presents four case examples where a 3D documentation was performed and analyses the acquired data and the created 3D models. It was found that the device returns feasible 3D models that appear usable for forensic 3D reconstructions

Forensic examination of living persons in 3D models

Physical injuries caused by interpersonal violence or accidents are usually documented with photographs. In addition to standard injury photography using 2D photographs, the Institute *INSTITUT NAME BLINDED FOR REVIEW* uses a Botspot Botscan ® multi-camera device (Photobox; Aniwaa Ltd, Berlin, Germany) that allows for 3D documentation of a subject. The Photobox contains 70 cameras positioned at different heights looking at a central platform. Within a fraction of a second, all cameras are activated and acquire the necessary images for 3D documentation. In previous studies by Michienzi et al. (2018), the geometric correctness of 3D documented injuries was analyzed. While their work concentrated solely on artificial injuries and their dimensions, the work presented in this study analyzes whether the Photobox allows for accurate medical interpretation of injuries, by forensic pathologists. To perform this analysis, 40 datasets of a variety of real cases were processed to 3D models. The created 3D models were then examined by forensic pathologists on 2D computer screens, and the findings were compared with the original reports. While the aim of this work was to assess whether examinations based on a 3D model allows comparable results to immediate examinations of the subject, the results showed that examinations based on a 3D model are 85% accurate when comparing with physical examinations. This indicates that 3D models allow for reasonably accurate interpretation, and it is possible that accuracy might increase with improved equipment and better trained personnel

Augmented Reality in Forensics and Forensic Medicine - Current Status and Future Prospects

Forensic investigations require a vast variety of knowledge and expertise of each specialist involved. With the increase in digitization and advanced technical possibilities, the traditional use of a computer with a screen for visualization and a mouse and keyboard for interactions has limitations, especially when visualizing the content in relation to the real world. Augmented reality (AR) can be used in such instances to support investigators in various tasks at the scene as well as later in the investigation process. In this article, we present current applications of AR in forensics and forensic medicine, the technological basics of AR, and the advantages that AR brings for forensic investigations. Furthermore, we will have a brief look at other fields of application and at future developments of AR in forensics

Forensic examination of living persons in 3D models.

Physical injuries caused by interpersonal violence or accidents are usually documented with photographs. In addition to standard injury photography using 2D photographs, the Institute *INSTITUT NAME BLINDED FOR REVIEW* uses a Botspot Botscan ® multi-camera device (Photobox; Aniwaa Ltd, Berlin, Germany) that allows for 3D documentation of a subject. The Photobox contains 70 cameras positioned at different heights looking at a central platform. Within a fraction of a second, all cameras are activated and acquire the necessary images for 3D documentation. In previous studies by Michienzi et al. (2018), the geometric correctness of 3D documented injuries was analyzed. While their work concentrated solely on artificial injuries and their dimensions, the work presented in this study analyzes whether the Photobox allows for accurate medical interpretation of injuries, by forensic pathologists. To perform this analysis, 40 datasets of a variety of real cases were processed to 3D models. The created 3D models were then examined by forensic pathologists on 2D computer screens, and the findings were compared with the original reports. While the aim of this work was to assess whether examinations based on a 3D model allows comparable results to immediate examinations of the subject, the results showed that examinations based on a 3D model are 85% accurate when comparing with physical examinations. This indicates that 3D models allow for reasonably accurate interpretation, and it is possible that accuracy might increase with improved equipment and better trained personnel

Prevalence of calcified epiglottis in postmortem computed tomography. Is there a correlation to failed endotracheal intubation?

Objectives: Calcification of the epiglottis is a normal physiological degenerative process, although it can also be a consequence of infection or trauma. There are three possible forensically relevant consequences from epiglottic calcification: misinterpretation as foreign bodies, dysphagia as a major contributing factor to aspiration, and association with difficult intubation or a misplaced ventilation tube. It is the aim of this study (I) to inquire about the prevalence of epiglottic calcification in postmortem CT in general and (II) to investigate whether calcification of the epiglottis is linked to a higher incidence of failed endotracheal intubation. Methods: We retrospectively analysed 2930 consecutive cases in postmortem CT at the Institute of Forensic Medicine. Results: The prevalence of epiglottic calcification was 4.1%. Higher age and male sex are associated with an increased risk of epiglottic calcification. There was no calcification of the epiglottis in the cases with misplacement of the ventilation tube in the esophagus. Conclusions: To verify the result of our study, that is, the calcification of the epiglottis is not linked to a higher incidence of failed endotracheal intubation, it might be reasonable to repeat this study with a more representative study population. The high interindividual variations of calcified epiglottis could be used for identification

Classification of rib fracture types from postmortem computed tomography images using deep learning

Human or time resources can sometimes fall short in medical image diagnostics, and analyzing images in full detail can be a challenging task. With recent advances in artificial intelligence, an increasing number of systems have been developed to assist clinicians in their work. In this study, the objective was to train a model that can distinguish between various fracture types on different levels of hierarchical taxonomy and detect them on 2D-image representations of volumetric postmortem computed tomography (PMCT) data. We used a deep learning model based on the ResNet50 architecture that was pretrained on ImageNet data, and we used transfer learning to fine-tune it to our specific task. We trained our model to distinguish between “displaced,” “nondisplaced,” “ad latus,” “ad longitudinem cum contractione,” and “ad longitudinem cum distractione” fractures. Radiographs with no fractures were correctly predicted in 95–99% of cases. Nondisplaced fractures were correctly predicted in 80–86% of cases. Displaced fractures of the “ad latus” type were correctly predicted in 17–18% of cases. The other two displaced types of fractures, “ad longitudinem cum contractione” and “ad longitudinem cum distractione,” were correctly predicted in 70–75% and 64–75% of cases, respectively. The model achieved the best performance when the level of hierarchical taxonomy was high, while it had more difficulties when the level of hierarchical taxonomy was lower. Overall, deep learning techniques constitute a reliable solution for forensic pathologists and medical practitioners seeking to reduce workload

Technical note: Semiautomated targeted postmortem computed tomography angiography of the pulmonary arteries using a robotic system

INTRODUCTION To better depict vascular lesions on postmortem computed tomography (PMCT), whole-body postmortem computed tomography angiography (PMCTA) can be used in forensic diagnostics. Targeted angiography, in which only a specific vessel is filled with contrast agent, might help in cases of traumatic changes that render whole-body PMCTA impossible. Moreover, in targeted PMCTA, the contrast agent does not affect the haptics of any other organs. In this article, we describe automated, CT-guided targeted angiography of the pulmonary artery (PA) using the Virtobot system. MATERIAL AND METHODS Our study group consisted of 8 deceased persons (3 males, 5 females). We first performed an unenhanced CT scan and used the data obtained to plan the needle trajectories with the Virtobot planning software. Then, the needle was fully automatically placed by the Virtobot system. Subsequently, 50 ml of contrast agent was injected manually, and the CT scan was repeated (targeted PMCTA). RESULTS AND DISCUSSION We tested a new method for performing semiautomated targeted postmortem angiography of the PAs using a robotic needle placement system (Virtobot). In 6 out of our 8 cases, the injection of contrast agent in the PA was successful. In five of the six successful cases, there was reflux of contrast agent to some extent, but the reflux did not affect the readout. In general, the procedure was easy to plan based on a PMCT data set, and the pulmonary trunk was easy to reach with a robotic needle placement system

Analysis of suicides in the catchment area of the Institute of Forensic Medicine, University of Zurich Switzerland: A retrospective cohort study of sex differences, suicide methods and trends over time

Background and objective Suicide has a profound impact on both the affected families and society at large. Among young adults it even ranks as the fourth leading cause of death. Therefore, analysis of suicides is crucial for enhancing prevention strategies. This study aims to (I) investigate sex and age differences, (II) differences in methods and (III) locations (urban vs. rural) among those who committed suicide over a time period of 10 years in the catchment area of the Institute of Forensic Medicine, University of Zurich. Material and methods The archive of the Institute of Forensic Medicine, University of Zurich was searched for postmortem examinations and autopsy reports from completed suicides over a time period of 10 years. All relevant data were extracted from the written reports and five age groups were defined (group I ≤ 30 years, group II 31–44 years, group III 45–54 years, group IV 55–64 years and group V > 64 years). Nonparametric Kruskal-Wallis one-way variance analysis by rank was used for the statistical analysis on each criterion. Results Of the 1174 individuals included in the study, 72% were male, and 28% were female, with a mean age of approximately 52 years at the time of suicide. No relevant change was observed in the male-to-female ratio over the 10 years; however, women showed a trend toward a lower age at suicide. In terms of suicide methods, men had a higher rate of shooting (21.2% vs. 3.6%, p < 0.1) and hanging (24.4% vs. 16.4%, p < 0.1), whereas women had a higher rate of intoxication (21.6% vs. 9.0%, p < 0.1). The choice of suicide method also varied across age groups. Regarding location, completed suicides declined in urban regions but increased in rural regions. Conclusion Prevention plans should be reviewed, especially given the trend toward younger women completing suicide. Suicide prevention remains a major sociopolitical challenge that demands continuous review and the adaptation of suicide prevention strategies

An algorithm for automatically generating gas, bone and foreign body visualizations from postmortem computed tomography data

Post mortem computed tomography (PMCT) can aid in localizing foreign bodies, bone fractures, and gas accumulations. The visualization of these findings play an important role in the communication of radiological findings. In this article, we present an algorithm for automated visualization of gas distributions on PMCT image data of the thorax and abdomen. The algorithm uses a combination of region growing segmentation and layering of different visualization methods to automatically generate overview images that depict radiopaque foreign bodies, bones and gas distributions in one image. The presented method was tested on 955 PMCT scans of the thorax and abdomen. The algorithm managed to generate useful images for all cases, visualizing foreign bodies as well as gas distribution. The most interesting cases are presented in this article. While this type of visualization cannot replace a real radiological analysis of the image data, it can provide a quick overview for briefings and image reports