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Human bone has shown to have luminescent properties that remain throughout the phases of cremation, with the exception of fully carbonized bone, when excited with a narrow band light source. During this research, an alternate light source (420–470nm, peak at 445nm) was used to visualize and investigate latent details relevant for forensic investigations of human remains recovered at fire scenes. As fire is a destructive force, it induces a vast variety of physical and chemical alterations to all components of the bone, making the subsequent analysis and interpretation of burned human remains challenging. A spectral shift in emission bandwidth, from green to red, was previously observed when the exposure temperature increased from 700 to 800 °C. This spectral shift was reproduced on a total of 10 human forearms, divided into 20 segments, by burning at 700 °C and 900 °C in an ashing furnace. The shift of emission bandwidth caused only by an increase in temperature was furthermore investigated by colorimetric analysis, proving the spectral shift to be significant. By easily quantifying the spectral shift, substantiation is provided for the use of this technique in practice to improve the interpretation of heat induced changes of bone.

Due to advancements in ultrasound techniques, the focus of antenatal ultrasound screening is moving towards the first trimester of pregnancy. The early first trimester however remains in part, a 'black box', due to the size of the developing embryo and the limitations of contemporary scanning techniques. Therefore there is a need for images of early anatomical developmental to improve our understanding of this area. By using new imaging techniques, we can not only obtain better images to further our knowledge of early embryonic development, but clear images of embryonic and fetal development can also be used in training for e.g. sonographers and fetal surgeons, or to educate parents expecting a child with a fetal anomaly. The aim of this review is to provide an overview of the past, present and future techniques used to capture images of the developing human embryo and fetus and provide the reader newest insights in upcoming and promising imaging techniques. The reader is taken from the earliest drawings of da Vinci, along the advancements in the fields of in utero ultrasound and MR imaging techniques towards high-resolution ex utero imaging using Micro-CT and ultra-high field MRI. Finally, a future perspective is given about the use of artificial intelligence in ultrasound and new potential imaging techniques such as synchrotron radiation-based CT to increase our knowledge regarding human development. ispartof: SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY vol:131 pages:78-92 ispartof: location:England status: published

In contrast to cranial gunshot trauma, diagnosis and interpretation of gunshot trauma to long bones remains difficult and controversial. The aim of this study is to review the published literature on fracture patterns resulting from gunshot trauma in human long bones, and to use the described characteristics to provide practical guidance for the forensic anthropologist. In order to achieve this, medical and forensic publications on this topic were reviewed. Several types of fractures, such as linear, oblique, comminuted and butterfly fractures, have been observed in either the shaft or the ends of long bones. Indirect fractures that are not caused by bullets striking bone directly but by bullet-induced forces to the surrounding soft tissue have been found as well. Some of these fractures are related to a specific context or mechanism which might help in the forensic reconstruction of events. It is recommended that future research should focus on available medical data to provide more detailed descriptions on fracture patterns for forensic purposes. Experimentation with bone surrogates and computer modelling might also provide better and more realistic reconstructions of gunshot trauma in the future and provide valuable insights for its diagnosis and interpretation in forensic anthropology.

Contains fulltext : 287837.pdf (Publisher’s version ) (Open Access) The Medical School of Padua (Italy) contributed profoundly to the study of teratology. Many famous physicians and professors of medicine, such as Liceti, Vallisneri, Morgagni, and Malacarne, have studied and investigated these anomalies to better understand the causes and to find a potential explanation, often preserving the specimens for future studies. The present study highlights some historical cases of conjoined twins and a conjoined triplet preserved at the Morgagni Museum of Human Anatomy to show the development of medical theories in the teratological field between the 18th and early 19th century. This approach will provide insights into different study methods and ideas of some of the most famous scholars working in Padua at that time. The current article focuses on rare cases, both human and animal, that were encountered by physicians who worked in the Veneto area in the late 18th and early 19th century. Their detailed descriptions are not only of historical but also of contemporary dysmorphological value.

Abstract To investigate the differences between pre- and post-fire fractures, 30 human forearm bones were subjected to either blunt-force impact, burning, or both. Bones, covered in soft tissue and wrapped in clothing, were burned in a reconstructed house fire. The burning context and dynamics led to differential burning, that was equal amongst the three groups. To evaluate the damage to the bones, a data collection sheet was developed based on the current literature on fracture features. To analyze the relation between exposure temperature and fracture class and occurrence, color was measured to estimate the exposure temperature. Observable and measurable changes on bone, and fracture surfaces, were macro- and microscopically analyzed. Many features overlapped between the three groups, and thus are not usable for differentiation. Fractures caused by blunt force impact (post-mortem, pre-fire) showed a rough fracture surface with smoothness in curved/slanted regions near the margin after burning, while heat-induced bone fractures showed a smooth fracture surface. The margins and surface of bone fractures that originated after the fire (indirect heat-induced) were evenly discolored, whereas heat-induced bone fractures showed uneven discoloration of the fracture margin and surface. Although there were generally more heat-induced fractures in the 450–700 °C range, no other distinctive trend was observed between exposure temperature and class of fractures.

Objectives: Adult spleens show extensive morphological variation, with a reported prevalence of 40–98% clefts (also called notches or fissures) on the splenic surface and 10–30% accessory spleens at autopsy. It is hypothesised that both anatomical variants result from a complete or partial failure of multiple splenic primordia to fuse to the main body. According to this hypothesis, fusion of the spleen primordia is completed after birth and spleen morphological variations are often explained as stagnation of spleen development at the foetal stage. We tested this hypothesis by studying early spleen development in embryos, and compared foetal and adult spleen morphology. Methods and materials: We assessed 22 embryonic, 17 foetal and 90 adult spleens on the presence of clefts using histology, micro-CT and conventional post-mortem CT-scans, respectively. Results: The spleen primordium was observed as a single mesenchymal condensation in all embryonic specimens. The number of clefts varied from 0 to 6 in foetuses, compared to 0–5 in adults. We found no correlation between foetal age and number of clefts (R2 = 0.004). The independent samples Kolmogorov–Smirnov test showed no significant difference in the total number of clefts between adult and foetal spleens (p = 0.068). Conclusion: We found no morphological evidence for a multifocal origin or a lobulated developmental stage of the human spleen. Advances in knowledge: Our findings show that splenic morphology is highly variable, independent of developmental stage and age. We suggest to abandon the term “persistent foetal lobulation” and to regard splenic clefts, regardless of their number or location, as normal variants.

Background: Symmetric craniorachipagus is an exceedingly rare type of bi-umbilical conjoined twinning, known from only three scantily described cases. Case: We identified a fourth, previously described case that was misdiagnosed as janiceps and as pygopagus. It concerned dorsally conjoined twins that were part of a triplet pregnancy, spontaneously born at 22 weeks of gestation. Radiography confirmed union at the occipital craniums and the thoracolumbar vertebral columns. Both twins had their own separate umbilical cords. To delineate the phenotype of craniorachipagus and to differentiate it from rachipagus without cranial involvement, we compared the present case with the previous three reported cases and with the historical literature concerning comparable conditions. Furthermore, we discuss why exceedingly rare conditions such as these are presently underreported in the literature. Conclusion: Symmetric craniorachipagus is a type of bi-umbilical conjoined twinning, to date represented by four confirmed cases that share a similar phenotype. This includes dorsal conjunction at the sides of the occipital craniums and the vertebral columns, in the absence of any visceral connections. Details on its etiopathogenesis and apparent lethality await additional case investigations. No unequivocally confirmed cases of symmetric rachipagus without cranial involvement have been reported and its existence in humans has yet to be proven.

Contains fulltext : 291894.pdf (Publisher’s version ) (Open Access) The collection of the Narrenturm in Vienna houses and maintains more than 50,000 objects including approximately 1200 teratological specimens; making it one of the biggest collections of specimens from human origin in Europe. The existence of this magnificent collection-representing an important resource for dysmorphology research, mostly awaiting contemporary diagnoses-is not widely known in the scientific community. Here, we show that the Narrenturm harbors a wealth of specimens with (exceptionally) rare congenital anomalies. These museums can be seen as physical repositories of human malformation, covering hundreds of years of dedicated collecting and preserving, thereby creating unique settings that can be used to expand our knowledge of developmental conditions that have to be preserved for future generations of scientists.

The ventricular walls of the human heart comprise an outer compact layer and an inner trabecular layer. In the context of an increased pre‐test probability, diagnosis left ventricular noncompaction cardiomyopathy is given when the left ventricle is excessively trabeculated in volume (trabecular vol >25% of total LV wall volume) or thickness (trabecular/compact (T/C) >2.3). Here, we investigated whether higher spatial resolution affects the detection of trabeculation and thus the assessment of normal and excessively trabeculated wall morphology. First, we screened left ventricles in 1112 post‐natal autopsy hearts. We identified five excessively trabeculated hearts and this low prevalence of excessive trabeculation is in agreement with pathology reports but contrasts the prevalence of approximately 10% of the population found by in vivo non‐invasive imaging. Using macroscopy, histology and low‐ and high‐resolution MRI, the five excessively trabeculated hearts were compared with six normal hearts and seven abnormally trabeculated and excessive trabeculation‐negative hearts. Some abnormally trabeculated hearts could be considered excessively trabeculated macroscopically because of a trabecular outflow or an excessive number of trabeculations, but they were excessive trabeculation‐negative when assessed with MRI‐based measurements (T/C, Jensen et al. show that higher spatial resolution may affect the sensitivity of diagnostic measurements of noncompaction and in addition could allow for novel measurements such as counting of trabeculations.

Over the last few years, fetal postmortem microfocus computed tomography (micro-CT) imaging has increased in popularity for both diagnostic and research purposes. Micro-CT imaging could be a substitute for autopsy, particularly in very early gestation fetuses for whom autopsy can be technically challenging and is often unaccepted by parents. This article provides an overview of the latest research in fetal postmortem micro-CT imaging with a focus on diagnostic accuracy, endovascular staining approaches, placental studies and the reversibility of staining. It also discusses new methods that could prove helpful for micro-CT of larger fetuses. While more research is needed, contrast-enhanced micro-CT has the potential to become a suitable alternative to fetal autopsy. Further research using this novel imaging tool could yield wider applications, such as its practise in imaging rare museum specimens.

The aim of this scoping review was to assess the composition, terminology, and anatomy of the triangular fibrocartilage complex (TFCC) of the wrist and propose unambiguous terminology regarding the individual components. The review was conducted according to the methodological framework by Arksey and O'Malley (International Journal of Social Research Methodology, 2005, 8, 19–32). Electronic databases were searched from inception until September 1, 2021 for original anatomical studies, using MeSH terms and keywords on terminology and anatomy of TFCC components. Studies using gross dissections or macro- or microscopic histology were included. Animal studies, fetal studies and studies with unknown disease status, were excluded. A total of 24 studies were included. The articular disc, the radioulnar ligaments, the meniscus homologue and the extensor carpi ulnaris tendon (sub)sheath were unanimously classified as TFCC components. One study did not include the ulnolunate and ulnotriquetral ligaments and only one study did include the ligamentum subcruentum. The largest disagreement existed regarding the inclusion of the ulnar collateral ligament. Terminological ambiguity was seen in “triangular fibrocartilage,” “triangular ligament,” “igamentum subcruentum,” and the “proximal and distal lamina.” Anatomical ambiguity existed especially regarding the radioulnar ligaments, the ulnar attachments of the TFCC and the ulnar collateral ligament. Definitions of the individual TFCC components are redundant, ambiguous, and ill-defined and therefore subject to different interpretations. In order to preclude confusion, consensus regarding terminology is recommended. We proposed a concise definition of the healthy TFCC that can be used as a starting point for future studies and current clinical practice.

Contains fulltext : 235748.pdf (Publisher’s version ) (Open Access) Several teratologic collections containing specimens with malformations and syndromes are maintained in a number of Dutch anatomical museums. Technically, these are not works of art or antiquities. However, many have been depicted in illustrations of such high quality that they merit discussion here. We review a selection of specimens and their artistic portrayals which find their origin in four Dutch teratological collections. These museum specimens are more than just intriguing objects for the inquisitive museum visitor. As we will substantiate, these specimens-and their artistic depictions-can be used to find and describe rarely occurring birth defects, provide etiopathogenetic information and are a source of novel diagnosis. Additionally, we briefly discuss the ethical aspects and motivations of exhibiting these specimens, as these collections have to be protected meticulously by the new generation of museum professionals, who eventually determine what kind of past our future will have. It is therefore imperative that these collections of antique specimens are treasured as their importance is easily overlooked.

Contains fulltext : 238607.pdf (Publisher’s version ) (Open Access) Shared anomalies, always located close to the area of coalescence and observable in virtually every type of conjoined twinning, are currently seen as separate anomalies caused by mostly unknown and seemingly unrelated pathways rather than being connected to the twinning mechanism itself. Therefore, most (case) reports about conjoined twins are mere descriptions of (external) dysmorphologies lacking reflections on the possible origin of their concomitant anomalies. As we will demonstrate in this article, shared anomalies are influenced, and in some cases solely and sequentially explained, by interaction aplasia and neo-axial orientation; two embryological mechanisms to which each set of conjoined twins is subjected and are responsible for their ultimate phenotypical fate. In this review, we consider how the ventral, lateral and caudal conjunction types and their intermediates determine the phenotypic presentation of the twins, including patterns of shared malformations and anomalies, which in themselves can be indistinguishable from those encountered in singleton cases. Hence, it can be hypothesized that certain anomalies in singletons originate in a fashion similar to that in conjoined twins.

There is a paucity in the literature regarding bilateral symmetry between the facets of the subtalar joint. Often surgeons use the contralateral side as a reference when dealing with a fracture or other joint pathology. Moreover, the presence of osteoarthritic (OA) changes in the subtalar joint is suggested to have a relation with its morphology. In this study, we addressed both these issues. Forty pairs of cadaveric tali and calcanei were analyzed by dissection and measurement. Twenty pairs of asymptomatic calcanei were morphologically analyzed by computer tomography imaging. In the cadaveric feet, the length and width of the facets, the number and interfacet connections, the intersection angle, and the presence of OA changes were registered. In the healthy feet, the orientation and curvature of the posterior facet were analyzed based on cylinder fittings. Bilateral symmetry was tested with paired Student's t tests. Significant associations between morphometric parameters and the presence of OA changes were tested with generalized estimating equation logistic regression models. The morphometric data demonstrated a high degree of bilateral symmetry. The types of tali and calcanei between left and right differed in about one‐fifth of the individuals. No significant interactions were found between morphological parameters and the presence of OA changes. Only age had a significant association. There was a high degree of symmetry in the subtalar joints facets. No significant associations were found between OA changes and morphological features, whereas other studies did. Further research is needed to explore this relationship in further detail. Clin. Anat., 33:997–1006, 2020. © 2019 Wiley Periodicals, Inc.

Contains fulltext : 283320.pdf (Publisher’s version ) (Open Access) Conjoined triplets are among the rarest of human malformations, as are asymmetric or parasitic conjoined twins. Based on a very modest corpus of recent literature, we applied the embryonic disk model of conjoined twinning to 10 previously reported cases involving asymmetric anatomical multiplications to determine whether they concerned conjoined twins or conjoined triplets. In spite of their phenotypic similarities, we diagnosed four of these cases as conjoined twins and three of them as conjoined triplets. In the remaining three cases, no definite diagnosis could be made, as essential information was lacking from the reports. We conclude that it is not necessarily the expected duplication or triplication of structures that points to the correct diagnosis in these cases, but the number and mutual position of the hearts they presented with. Considering their rarity we stress to thoroughly investigate and describe internal (dys)morphology in novel cases of (asymmetric) conjoined twins and triplets to further unravel their pathogenicity and come to the correct diagnoses.

Microcephaly, characterized by crania with an abnormally small occipitofrontal circumference (OFC), is only sporadically described in paleopathological literature. Accurate identification of individuals suffering from microcephaly is challenging when performed in an archeological context, especially in mild cases, as appropriate reference data are often not available. This study aimed to describe the craniometric characteristics of the Meerenberg (MeB) skeletal collection and to identify microcephalic individuals while focusing on the diagnostic criteria and the influence of reference data on the prevalence of the condition. The value of virtual endocasts as a diagnostic tool was also assessed. Forty-eight adults (1891–1936) excavated from the cemetery of the MeB psychiatric hospital (Bloemendaal, The Netherlands) were investigated. Microcephalic individuals were identified by using the craniometric characteristics of a contemporary Dutch archeological population as reference. In order to investigate the usefulness of modern clinical head circumference reference data on the diagnostic process, cranial OFCs of the MeB individuals were converted to head OFCs. Virtual endocasts were created from the identified microcephalics and three normocephalics. Three MeB females (all

Purpose The aim of this study was to investigate whether post-mortem computed tomography (PMCT) provides additional information regarding the cause of death and underlying diseases in a general practitioners’ (GP), out-of-hospital population. Methods and materials Bodies donated to our anatomy department between January 2014 and January 2018, who consecutively underwent a total body PMCT and had given permission for retrieval of their medical records during life, were included. PMCT scans were assessed by a radiologist and compared with the cause of death as stated in the medical records. Discrepancies were analyzed with an adjusted Goldman classification. Results Ninety-three out of the 274 scanned donors during the inclusion period had given consent for the retrieval of their medical records, of which 79 GP’s responded to the request thereof (31 men, 48 women, average age 72.8 years, range 36–99). PMCT identified 49 (62%) cases of cancer, 10 (12.7%) cardiovascular diseases, 8 (10.1%) severe organ failures, 5 (6.3%) cases with signs of pneumonia, 2 (2.5%) other causes, and 7 (8.9%) cases without an (underlying) definitive cause of death. Eleven major discrepancies on the Goldman classification scale, with possible relevance to survival between PMCT and GP records, were identified. Conclusion PMCT can have added value for the detection of additional findings regarding the cause of death in an out-of-hospital, GP’s population, especially to identify or exclude major (previously non-diagnosed) underlying diseases.

Background MRI and CT have been extensively used to study fetal anatomy for research and diagnostic purposes, enabling minimally invasive autopsy and giving insight in human fetal development. Novel (contrast-enhanced) microfocus CT (micro-CT) and ultra-high-field (≥ 7.0 T) MRI (UHF-MRI) techniques now enable micron-level resolution that combats the disadvantages of low-field MRI and conventional CT. Thereby, they might be suitable to study fetal anatomy in high detail and, in time, contribute to the postmortem diagnosis of fetal conditions. Objectives (1) To systematically examine the usability of micro-CT and UHF-MRI to study postmortem human fetal anatomy, and (2) to analyze factors that govern success at each step of the specimen preparation and imaging. Method MEDLINE and EMBASE were systematically searched to identify publications on fetal imaging by micro-CT or UHF-MRI. Scanning protocols were summarized and best practices concerning specimen preparation and imaging were enumerated. Results Thirty-two publications reporting on micro-CT and UHF-MRI were included. The majority of the publications focused on imaging organs separately and seven publications focused on whole body imaging, demonstrating the possibility of visualization of small anatomical structures with a resolution well below 100 μm. When imaging soft tissues by micro-CT, the fetus should be stained by immersion in Lugol’s staining solution. Conclusion Micro-CT and UHF-MRI are both excellent imaging techniques to provide detailed images of gross anatomy of human fetuses. The present study offers an overview of the current best practices when using micro-CT and/or UHF-MRI to study fetal anatomy for clinical and research purposes. Key Points • Micro-CT and UHF-MRI can both be used to study postmortem human fetal anatomy for clinical and research purposes. • Micro-CT enables high-resolution imaging of fetal specimens in relatively short scanning time. However, tissue staining using a contrast solution is necessary to enable soft-tissue visualization. • UHF-MRI enables high-resolution imaging of fetal specimens, without the necessity of prior staining, but with the drawback of long scanning time.

Objective The objective of the study is to provide a reference for morphology, homogeneity, and signal intensity of triangular fibrocartilage complex (TFCC) and TFCC-related MRI features in adolescents. Materials and methods Prospectively collected data on asymptomatic participants aged 12–18 years, between June 2015 and November 2017, were retrospectively analyzed. A radiograph was performed in all participants to determine skeletal age and ulnar variance. A 3-T MRI followed to assess TFCC components and TFCC-related features. A standardized scoring form, based on MRI definitions used in literature on adults, was used for individual assessment of all participants by four observers. Results per item were expressed as frequencies (percentages) of observations by all observers for all participants combined (n = 92). Inter-observer agreement was determined by the unweighted Fleiss’ kappa with 95% confidence intervals (95% CI). Results The cohort consisted of 23 asymptomatic adolescents (12 girls and 11 boys). Median age was 13.5 years (range 12.0–17.0). Median ulnar variance was −0.7 mm (range − 2.7–1.4). Median triangular fibrocartilage (TFC) thickness was 1.4 mm (range 0.1–2.9). Diffuse increased TFC signal intensity not reaching the articular surface was observed in 30 (33%) observations and a vertical linear increased signal intensity with TFC discontinuation in 19 (20%) observations. Discontinuation between the volar radioulnar ligament and the TFC in the sagittal plane was seen in 23 (25%) observations. The extensor carpi ulnaris was completely dislocated in 10 (11%) observations, more frequent in supinated wrists (p = 0.031). Inter-observer agreement ranged from poor to fair for scoring items on the individual TFCC components. Conclusion MRI findings, whether normal variation or asymptomatic abnormality, can be observed in TFCC and TFCC-related features of asymptomatic adolescents. The rather low inter-observer agreement underscores the challenges in interpreting these small structures on MRI. This should be taken into consideration when interpreting clinical MRIs and deciding upon arthroscopy.

Determining the time since death, i.e., post-mortem interval (PMI), often plays a key role in forensic investigations. The current standard PMI-estimation method empirically correlates rectal temperatures and PMIs, frequently necessitating subjective correction factors. To overcome this, we previously developed a thermodynamic finite-difference (TFD) algorithm, providing a rigorous method to simulate post-mortem temperatures of bodies assuming a straight posture. However, in forensic practice, bodies are often found in non-straight postures, potentially limiting applicability of this algorithm in these cases. Here, we develop an individualised approach, enabling PMI reconstruction for bodies in arbitrary postures, by combining photogrammetry and TFD modelling. Utilising thermal photogrammetry, this approach also represents the first non-contact method for PMI reconstruction. The performed lab and crime scene validations reveal PMI reconstruction accuracies of 0.26 h ± 1.38 h for true PMIs between 2 h and 35 h and total procedural durations of ~15 min. Together, these findings broaden the potential applicability of TFD-based PMI reconstruction., Establishing the time since death (TSD) is vital in many forensic investigations. By combining thermometry, photogrammetry and numerical thermodynamic modelling, the TSD can be determined non-invasively for bodies of arbitrary shape and posture with an unprecedented accuracy of 0.26 h ± 1.38 h.

Until well in the 19th century, the Aristotelian concept of the scala naturae (ladder of nature) was the most common biological theory among Western scientists. It dictated that only humans possessed a rational soul that provided the ability to reason and reflect. Michel Eyquem de Montaigne (1533-1592) was the first philosopher influential enough to lastingly posit that animals are cognitive creatures. His view stirred a fierce controversy, with René Descartes (1596-1650) leading among his many adversaries. Only after it became accepted that animals and humans alike have cognitive abilities, did the research on the influence of conscious awareness and intention on the behavior of an animal become possible in the 20th century. We found the anatomist Andreas Vesalius (1515-1564) to have already rejected the Aristotelian view on the lack of the rational soul in animals in his 1543 opus magnum De Humani Corporis Fabrica Libri Septem. His observation "that there is a difference in size according to the amount of reason that they seem to possess: man's brain is the largest, followed by the ape's, the dog's, and so on, corresponding to the amount of rational force that we deduce each animal to have" resonated some 330 years later when Darwin concluded that "the difference in mind between man and the higher animals, great as it is, certainly is one of degree and not of kind." We conclude that Vesalius was instrumental in breaking with two millenniums of dominance of the concept of lack of animal cognition.

The sinus venosus is a cardiac chamber upstream of the right atrium that harbours the dominant cardiac pacemaker. During human heart development, the sinus venosus becomes incorporated into the right atrium. However, from the literature it is not possible to deduce the characteristics and importance of this process of incorporation, due to inconsistent terminology and definitions in the description of multiple lines of evidence. We reviewed the literature regarding the incorporation of the sinus venosus and included novel electrophysiological data. Most mammals that have an incorporated sinus venosus show a loss of a functional valve guard of the superior caval vein together with a loss of the electrical sinuatrial delay between the sinus venosus and the right atrium. However, these processes are not necessarily intertwined and in a few species only the sinuatrial delay may be lost. Sinus venosus incorporation can be characterised as the loss of the sinuatrial delay of which the anatomical and molecular underpinnings are not yet understood.

It is currently unknown whether morphological sex estimation traits are accurately portrayed on virtual bone models, and this hampers the use of virtual bone models as an alternative source of contemporary skeletal reference data. This study determines whether commonly used morphological sex estimation traits can be accurately scored on virtual 3D pelvic bone elements. Twenty-seven intact cadavers from the body donation program of the Amsterdam UMC, University of Amsterdam, were CT scanned; this data was used to produce virtual bone models. Thereafter, the dry bones were obtained. Three traits by Klales (2012) and five traits from the Workshop of European Anthropologists (WEA) (1980) were scored on the virtual bone models and their dry skeletal counterparts. Intra- and inter-observer agreement and the agreement between the scores for each virtual bone model-dry bone pair were calculated using weighted Cohen’s kappa (K). For all Klales (2012) traits, intra- and inter-observer agreement was substantial to almost perfect for the virtual- and dry bones (K = 0.62–0.90). The agreement in scores in the virtual-dry bone pairs ranged from moderate to almost perfect (K = 0.58–0.82). For the WEA (1980) traits, intra-observer agreement was substantial to almost perfect (K = 0.64–0.91), but results were less unambiguous for inter-observer agreement (K = 0.24–0.88). Comparison of the scores between the virtual bone models and the dry bones yielded kappa values of 0.42–0.87. On one hand, clinical CT data is a promising source for contemporary forensic anthropological reference data, but the interchangeability of forensic anthropological methods between virtual bone models and dry skeletal elements needs to be tested further.

Bone has photoluminescent characteristics that can aid the analysis of thermally altered human skeletal remains as part of the forensic anthropological investigation. Photoluminescence stands collectively for fluorescence and phosphorescence. Because the difference in lifetime between fluorescence and phosphorescence is usually in the range of nano- to microseconds, it is only possible to visually determine whether bone phosphoresces when the lifetime is long enough to be observed. For this study, a distinction was made between long-decay and short-decay phosphorescence. So far, it was unknown whether (thermally altered) human bone emits long-decay phosphorescence after being illuminated and, thus, whether phosphorescence contributes to the observed photoluminescence. If so, whether the observable phosphorescence is dependent on temperature, exposure duration, surrounding medium, bone type, skeletal element, and excitation light and could aid the temperature estimation of heated bone fragments. In this study, bone samples were subjected to heat in the range of from room temperature to 900 °C for various durations in either air or adipose as surrounding medium. In addition, different skeletal elements of a human cadaver were recollected after cremation in a crematorium. Both sample collections were illuminated with light of different bandwidths and visually inspected for phosphorescence and photoluminescence. The samples were scored by means of a scoring index for the intensity of long-decay phosphorescence and photographically documented. The results show that thermally altered human bone fragments do phosphoresce. The observed phosphorescence is more dependent on temperature than on exposure duration, surrounding medium or skeletal element. Of the used wavelength bands, ultraviolet light provided the most temperature-related information, showing changes in both phosphorescence intensity and emission spectrum. Long-decay phosphorescence and fluorescence with short-decay phosphorescence coincide; however, there are also temperature-dependent differences. It is therefore concluded that phosphorescence contributes to the observable photoluminescence and that the visibly observable phosphorescent characteristics can aid the temperature estimation of cremated human skeletal fragments. Supplementary Information The online version contains supplementary material available at 10.1007/s00414-020-02455-1.

A taphonomic research facility for the study of human remains was recently realized in Amsterdam, the Netherlands, to systematically investigate the decomposition of the human body under known conditions. Governmental authorization was obtained to make use of the body donation program of the Amsterdam University Medical Centers, location Academic Medical Center, for this specific purpose. In contrast to the small number of comparable initiatives elsewhere, this facility specifically allows for the study of buried bodies e.g. with the use of telemetry and remote sensing. Here, we discuss the concept of body donation in the Netherlands, its role in taphonomic research, and the sequence of events that preceded the realization of this facility, which is the first of its kind in Europe. In addition to offering novel research options to the scientific community, we hope that it will also pave the way for the successful realization of similar initiatives in other locations.

Glioblastoma is the most aggressive primary brain tumor. Slowly dividing and therapy-resistant glioblastoma stem cells (GSCs) reside in protective peri-arteriolar niches and are held responsible for glioblastoma recurrence. Recently, we showed similarities between GSC niches and hematopoietic stem cell (HSC) niches in bone marrow. Acute myeloid leukemia (AML) cells hijack HSC niches and are transformed into therapy-resistant leukemic stem cells (LSCs). Current clinical trials are focussed on removal of LSCs out of HSC niches to differentiate and to become sensitized to chemotherapy. In the present study, we elaborated further on these similarities by immunohistochemical analyses of 17 biomarkers in paraffin sections of human glioblastoma and human bone marrow. We found all 17 biomarkers to be expressed both in hypoxic peri-arteriolar HSC niches in bone marrow and hypoxic peri-arteriolar GSC niches in glioblastoma. Our findings implicate that GSC niches are being formed in glioblastoma as a copy of HSC niches in bone marrow. These similarities between HSC niches and GSC niches provide a theoretic basis for the development of novel strategies to force GSCs out of their niches, in a similar manner as in AML, to induce GSC differentiation and proliferation to render them more sensitive to anti-glioblastoma therapies.

Spondylocostal dysostosis (SCD) is a rare disorder characterized by vertebral segmentation defects and malformations of the ribs. SCD patients have some degree of (kypho)scoliosis, short stature and suffer from respiratory impairment due to the reduced size of their thoracic cage. Mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2 are known to cause different subtypes of SCD. Here, we report on a male neonate with an apparent distinct SCD-like phenotype only partly overlapping the previously described SCD subtypes. The proband presented with severe rib malformations (missing, fused, bifid, and hypoplastic ribs), vertebral malformations (intervertebral fusions of the laminae and irregular ossification of the vertebral bodies), and a mild scoliosis. Clear segmentation defects of the vertebral bodies were lacking. Other dysmorphic features were present as well. Severe respiratory insufficiency was present from birth. Whole exome sequencing identified a homozygous start-loss variant in DMRT2 (NM_006557.6: c.1A > T p.[Met1?]) being a likely cause of the SCD-like phenotype in the proband. Mutations in DMRT2 (OMIM#604935) have not been described in relation to SCD-related phenotypes in humans before. However, Dmrt2 knock-out mice exhibit severe rib and vertebral defects that strikingly overlap with the radiological phenotype of the proband reported here. Therefore, it seems plausible that mutations in DMRT2 are associated with a different (novel) subtype of SCD mainly characterized by severe rib anomalies but lacking clear segmentation defects of the vertebral bodies.

Since the multi-site closure theory was first proposed in 1991 as explanation for the preferential localizations of neural tube defects, the closure of the neural tube has been debated. Although the multi-site closure theory is much cited in clinical literature, single-site closure is most apparent in literature concerning embryology. Inspired by Victor Hamburgers (1900-2001) statement that "our real teacher has been and still is the embryo, who is, incidentally, the only teacher who is always right", we decided to critically review both theories of neural tube closure. To verify the theories of closure, we studied serial histological sections of 10 mouse embryos between 8.5 and 9.5 days of gestation and 18 human embryos of the Carnegie collection between Carnegie stage 9 (19-21 days) and 13 (28-32 days). Neural tube closure was histologically defined by the neuroepithelial remodeling of the two adjoining neural fold tips in the midline. We did not observe multiple fusion sites in neither mouse nor human embryos. A meta-analysis of case reports on neural tube defects showed that defects can occur at any level of the neural axis. Our data indicate that the human neural tube fuses at a single site and, therefore, we propose to reinstate the single-site closure theory for neural tube closure. We showed that neural tube defects are not restricted to a specific location, thereby refuting the reasoning underlying the multi-site closure theory. Clin. Anat. 30:988-999, 2017. © 2017 Wiley Periodicals, Inc.

This study presents a reference for the dimensions of the tarsal sinus and canal in healthy adults in different foot positions to facilitate understanding of the kinematics of the subtalar joint, the effect of an implant, and other clinical issues. In a 3D CT stress test on 20 subjects, the right foot was forced into a neutral and eight different extreme foot positions while CT scans were obtained. The bones were segmented in the neutral foot position. The kinematics of the bones in the extreme positions were determined relative to the neutral position. The dimensions of the tarsal sinus and canal were calculated by determining the radii of the maximal inscribed spheres at 20 equidistant locations along an axis in 3D surface models of the tali and calcanei in each foot position. The radii were small on the medial side and increased laterally. Medial from the middle, the radii were small and not significantly different among the various foot positions. At the lateral side, the dimensions were affected mainly by eversion or inversion and less by dorsiflexion or plantarflexion. The pattern was reproducible among subjects, but there were between-subject differences. The dimensions are mostly determined by rotation in the frontal plane. A pivot point was found medial from the middle. These data serve as a reference and model for predicting the effect of sinus implants and understanding such clinical problems as sinus tarsi syndrome. Between-subjects differences have to be taken into account. Clin. Anat. 30:1049-1057, 2017. © 2017 Wiley Periodicals, Inc.

Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is presumed to be lethal in males, mostly in the first or second trimester of pregnancy. Live born males with OFD1 are a rare occurrence, with only five reported patients to date. In four patients the presence of a congenital heart defect (CHD) was observed. Here, we report an affected male fetus with a hemizygous de novo mutation in OFD1 (c.2101C>T; p.(Gln701*)). Ultrasound examination demonstrated severe hydrocephalus, a hypoplastic cerebellum and a hypoplastic left ventricle of the heart. The pregnancy was terminated at 16 weeks of gestation because of poor prognosis. Post-mortem examination of the fetus confirmed severe hypoplasia of the left ventricle of the heart. We emphasize that CHDs should be included in the phenotypic spectrum of OFD1 in males. This justifies molecular analysis of OFD1 when CHD is encountered prenatally in combination with one or more phenotypic features previously described in the OFD1 gene alteration spectrum. The underlying pathogenesis of CHD in OFD1 (and other ciliopathies) probably involves dysfunction of the primary cilia regarding coordination of left-right signalling during early heart development. Whether these CHDs wholly or partly result from defective left right signalling, in which different types of cilia are known to play a critical role, remains a topic of research.

Contains fulltext : 174217.pdf (Publisher’s version ) (Open Access) OBJECTIVES: To determine the advantages of radiological imaging of a collection of full-term teratological fetuses in order to increase their scientific and educational value. BACKGROUND : Anatomical museums around the world exhibit full-term teratological fetuses. Unfortunately, these museums are regularly considered as "morbid cabinets". Detailed dysmorphological information concerning the exhibited specimens is often lacking. Moreover, fetuses with severe and complex congenital anomalies are frequently diagnosed incompletely, incorrectly or not at all. METHODS: In order to verify diagnoses and to enrich their educational and scientific value, we imaged 41 out of the 72 teratological specimens present in the collection of our Anatomy and Pathology Museum in Nijmegen (The Netherlands) by means of magnetic resonance imaging (MRI) and computed tomography (CT). Additionally, contemporary dysmorphological insights and 3D models are implemented in the teratology education of medical students and residents. CONCLUSIONS: Full-term teratological fetuses have become increasingly rare and deserve a prominent place in every anatomical museum; they are suitable for contemporary teratological research and education. Modern radiological techniques markedly enhance their scientific and didactic value. TEACHING POINTS: * To explore the scientific and educational potential of institutionalised teratological collections * To understand the additional value of radiological imaging in diagnosing teratological specimens * To learn about the specific settings of MRI parameters when scanning fixed specimens * To recognise specific internal dysmorphology in several congenital anomalies.

Clinical radiology is increasingly used as a source of data to test or develop forensic anthropological methods, especially in countries where contemporary skeletal collections are not available. Naturally, this requires analysis of the error that is a result of low accuracy of the modality (i.e. accuracy of the segmentation) and the error that arises due to difficulties in landmark recognition in virtual models. The cumulative effect of these errors ultimately determines whether virtual and dry bone measurements can be used interchangeably.To test the interchangeability of virtual and dry bone measurements, 13 male and 14 female intact cadavers from the body donation program of the Amsterdam UMC were CT scanned using a standard patient scanning protocol and processed to obtain the dry os coxae. These were again CT scanned using the same scanning protocol. All CT scans were segmented to create 3D virtual bone models of the os coxae (‘dry’ CT models and ‘clinical’ CT models). An Artec Spider 3D optical scanner was used to produce gold standard ‘optical 3D models’ of ten dry os coxae.The deviation of the surfaces of the 3D virtual bone models compared to the gold standard was used to calculate the accuracy of the CT models, both for the overall os coxae and for selected landmarks. Landmark recognition was studied by comparing the TEM and %TEM of nine traditional inter-landmark distances (ILDs). The percentage difference for the various ILDs between modalities was used to gauge the practical implications of both errors combined.Results showed that ‘dry’ CT models were 0.36–0.45 mm larger than the ‘optical 3D models’ (deviations −0.27 mm to 2.86 mm). ‘Clinical’ CT models were 0.64–0.88 mm larger than the ‘optical 3D models’ (deviations −4.99 mm to 5.00 mm). The accuracies of the ROIs were variable and larger for ‘clinical’ CT models than for ‘dry’ CT models. TEM and %TEM were generally in the acceptable ranges for all ILDs whilst no single modality was obviously more or less reliable than the others. For almost all ILDs, the average percentage difference between modalities was substantially larger than the average percentage difference between observers in ‘dry bone’ measurements only.Our results show that the combined error of segmentation- and landmark recognition error can be substantial, which may preclude the usage of ‘clinical’ CT scans as an alternative source for forensic anthropological reference data.

The first human mutations in GATA6 were described in a cohort of patients with persistent truncus arteriosus, and the phenotypic spectrum has expanded since then. This study underscores the broad phenotypic spectrum by presenting two patients with de novo GATA6 mutations, both exhibiting complex cardiac defects, pancreatic, and other abnormalities. Furthermore, we provided a detailed overview of all published human genetic variation in/near GATA6 published to date and the associated phenotypes (n = 78). We conclude that the most common phenotypes associated with a mutation in GATA6 were structural cardiac and pancreatic abnormalities, with a penetrance of 87 and 60%, respectively. Other common malformations were gallbladder agenesis, congenital diaphragmatic hernia, and neurocognitive abnormalities, mostly developmental delay. Fifty‐eight percent of the mutations were de novo, and these patients more often had an anomaly of intracardiac connections, an anomaly of the great arteries, and hypothyroidism, compared with those with inherited mutations. Functional studies mostly support loss‐of‐function as the pathophysiological mechanism. In conclusion, GATA6 mutations give a wide range of phenotypic defects, most frequently malformations of the heart and pancreas. This highlights the importance of detailed clinical evaluation of identified carriers to evaluate their full phenotypic spectrum.

At this moment, no method is available to objectively estimate the temperature to which skeletal remains have been exposed during a fire. Estimating this temperature can provide crucial information in a legal investigation. Exposure of bone to heat results in observable and measurable changes, including a change in colour. To determine the exposure temperature of experimental bone samples, heat related changes in colour were systemically studied by means of image analysis. In total 1138 samples of fresh human long bone diaphysis and epiphysis, varying in size, were subjected to heat ranging from room temperature to 900 °C for various durations and in different media. The samples were scanned with a calibrated flatbed scanner and photographed with a Digital Single Lens Reflex camera. Red, Green, Blue values and Lightness, A-, and B-coordinates were collected for statistical analysis. Cluster analysis showed that discriminating thresholds for Lightness and B-coordinate could be defined and used to construct a model of decision rules. This model enables the user to differentiate between seven different temperature clusters with relatively high precision and accuracy. The proposed decision model provides an objective, robust and non-destructive method for estimating the exposure temperature of heated bone samples.

Contemporary papers and book chapters on nephrology open with the assumption that human kidney development passes through three morphological stages: pronephros, mesonephros, and metanephros. Current knowledge of the human pronephros, however, appears to be based on only a hand full of human specimens. The ongoing use of variations in the definition of a pronephros hampers the interpretation of study results. Because of the increased interest in the anamniote pronephros as a genetic model for kidney organogenesis we aimed to provide an overview of the literature concerning kidney development and to clarify the existence of a pronephros in human embryos. We performed an extensive literature survey regarding vertebrate renal morphology and we investigated histological sections of human embryos between 2 and 8 weeks of development. To facilitate better understanding of the literature about kidney development, a referenced glossary with short definitions was composed. The most striking difference between pronephros versus meso- and metanephros is found in nephron architecture. The pronephros consists exclusively of non-integrated nephrons with external glomeruli, whereas meso- and metanephros are composed of integrated nephrons with internal glomeruli. Animals whose embryos have comparatively little yolk at their disposal and hence have a free-swimming larval stage do develop a pronephros that is dedicated to survival in aquatic environments. Species in which embryos do not have a free-swimming larval stage have embryos that are supplied with a large amount of yolk or that develop within the body of the parent. In those species the pronephros is usually absent, incompletely developed, and apparently functionless. Non-integrated nephrons were not identified in histological sections of human embryos. Therefore, we conclude that a true pronephros is not detectable in human embryos although the most cranial part of the amniote excretory organ is often confusingly referred to as pronephros. The term pronephros should be avoided in amniotes unless all elements for a functional pronephros are undeniably present.

Objective The epithelium lining the human middle ear and adjacent temporal bone cavity shows a varying morphological appearance throughout these cavities. Its embryologic origin has long been debated and recently got attention in a newly proposed theory of a dual embryologic origin. The epithelial morphology and its differentiating capabilities are of significance in future mucosa-targeted therapeutic agents and could affect surgical approaches of the temporal bone. This study aims to analyze reported murine histological findings that led to the theory of a dual epithelial embryological origin and immunohistochemically investigate whether such an epithelial embryological origin in the human fetal middle ear could be true. Methods By combining a sagittal sectioning technique and immuno-histochemical staining, a comprehensive immuno-histological overview of the fetal human middle ear during a critical stage of tympanic cavitation was provided. A critical analysis of previously reported findings leading to the theory of a dual epithelial embryological origin and a comparison of these findings to the findings in the human fetal middle ear was performed. Results The reported findings and critical analysis provide multiple arguments for an entirely endodermal embryonic origin of the epithelium lining the tympanic cavity. Conclusion Different morphological epithelial appearances throughout the tympanic and temporal bone cavities could be explained by different stages of epithelial differentiation rather than different embryologic origin and endodermal rupture does not seem to be a necessity for these cavities to form.

Objective: Post-mortem computed tomography (PMCT) is an established method for disease, complications, and cause of death determination in both clinical and forensic cases. By adding intravascular infusion of contrast medium, computed tomography angiography (PMCTA) provides additional information on vascular structures and hemorrhages. When easily applicable and low in costs, this technique would be more frequently applied and of additional value to clinical and educational purposes, particularly in forensic scientific context. Materials and Methods: PMCTA was performed on 10 bodies of the anatomy department. First, a metal T-piece was inserted into the femoral artery as part of standard practice for conservation. Secondly, surplus contrast medium with sodium chloride was infused into the body through a catheter tube set attached to the metal T-piece, using a readily available enteroclysis pump from our radiology department. Results: With added costs of approximately € 266 (personnel and materials) and an additional procedure time of 15-20 minutes, successful infusion of contrast mixture was achieved with the enteroclysis pump. Partial or complete opacification was measured in 89% of arteries, with enhancement of soft tissue visualization. Conclusion: This study successfully evaluated an inexpensive and easy to use method to perform PMCTA for post-mortem investigations.

Supplemental material, DS_10.1369_0022155419878416 for Similarities Between Stem Cell Niches in Glioblastoma and Bone Marrow: Rays of Hope for Novel Treatment Strategies by Vashendriya V.V. Hira, Barbara Breznik, Miloš Vittori, Annique Loncq de Jong, Jernej Mlakar, Roelof-Jan Oostra, Mohammed Khurshed, Remco J. Molenaar, Tamara Lah and Cornelis J.F. Van Noorden in Journal of Histochemistry & Cytochemistry

The purpose of this study was to describe the normal 3D orientation and shape of the subtalar calcaneal posterior facet. This is not adequately described in current literature. In a supine position both feet of 20 healthy subjects were imaged in a simulated weight-bearing CT. A cylinder and plane were fitted to the posterior facet of the surface model. The orientation of both shapes was expressed by two angles in (1) the CT-based coordinate system with the axis of the foot aligned with the sagittal axis and (2) a coordinate system based on the geometric principal axes of the subject's calcaneus. The subtalar vertical angle was determined in the intersection in three different coronal planes of the cylinder. The cylinder's axis oriented from supero-postero-laterally to infero-antero-medially. The plane's normal directed supero-antero-medially in the CT-based coordinate system, and supero-antero-laterally in the other coordinate system. The subtalar vertical angle was significantly different (p < 0.001) between the three defined coronal planes and increased from anterior to posterior. The mean diameter of the fitted cylinder was 42.0 ± 7.7 mm and the root mean square error was 0.5 ± 0.1 mm. The posterior facet can be modelled as a segment of a cylinder with a supero-postero-lateral to infero-antero-medial orientation. The morphometry of the posterior facet in a healthy population serves as a reference in identifying abnormal subtalar joint morphology. More generally this study shows the need to include the full 3D morphology in assessing the orientation of the subtalar posterior facet. © 2018 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 9999:1–8, 2018.

Estimation of the postmortem interval in advanced postmortem stages is a challenging task. Although there are several approaches available for addressing postmortem changes of a (human) body or its environment (ecologically and/or biochemically), most are restricted to specific timeframes and/or individual and environmental conditions. It is well known, for instance, that buried bodies decompose in a remarkably different manner than on the ground surface. However, data on how established methods for PMI estimation perform under these conditions are scarce. It is important to understand whether and how postmortem changes are affected under burial conditions, if corrective factors could be conceived, or if methods have to be excluded for respective cases. We present the first multi-methodological assessment of human postmortem decomposition carried out on buried body donors in Europe, at the Amsterdam Research Initiative for Sub-surface Taphonomy and Anthropology (ARISTA) in the Netherlands. We used a multidisciplinary approach to investigate postmortem changes of morphology, skeletal muscle protein decomposition, presence of insects and other necrophilous animals as well as microbial communities (i.e., microbiomes) from August to November 2018 associated with two complete body exhumations and eight partial exhumations. Our results clearly display the current possibilities and limitations of methods for PMI estimation in buried remains and provide a baseline for future research and application.

Contains fulltext : 168015pub.pdf (Publisher’s version ) (Open Access) Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital conditions that specifically affect the skeleton, either qualitatively or quantitatively. Skeletal dysplasias (osteochondrodysplasias) interfere with the histological formation, growth and maturation of skeletal tissues leading to diminished postural length, but the building plan of the body is unaffected. Well- known skeletal dysplasias represented in the archeological record include osteogenesis imperfecta and achondroplasia. Dysostoses, in contrast, interfere with the building plan of the body, leading to e.g. missing or extraskeletal elements, but the histology of the skeletal tissues is unaffected. Dysostoses can concern the extremities (e.g., oligodactyly and polydactyly), the vertebral column (e.g., homeotic and meristic anomalies), or the craniofacial region. Conditions pertaining to the cranial sutures, i.e., craniosynostoses, can be either skeletal dysplasias or dysostoses. Congenital conditions that are not harmful to the individual are known as anatomical variations, several of which have a high and population-specific prevalence that could potentially make them useful for determining ethnic origins. In individual cases, specific congenital conditions could be determinative in establishing identity, provided that ante-mortem registration of those conditions was ensured. Clin. Anat. 29:878-891, 2016. (c) 2016 The Authors Clinical Anatomy published by Wiley Periodicals, Inc. on behalf of American Association of Clinical Anatomists.