Lessons from the Past: Metabolic Bone Disease in Historical Captive Primates

Primate welfare in captivity has significantly improved over the last century as a result of the advances made in providing an adequate diet and environment. The skeletal collections of museums provide evidence of this shift in captive care, because metabolic disease caused by dietary deficiency or inappropriate surroundings can cause deformation to the hard tissues. The Royal College of Surgeons of England (RCS) holds a collection of 1507 nonhuman primate skulls in its Odontological Collection, the majority donated before the mid-20th century from various sources. We observed a recurring gross pathology in 51 of these skulls, noted in museum records as captive animals. In all cases, general bone thickening with decreased bone density is the main feature and involves primarily the bones of the maxillofacial region and mandible. We performed computed tomography scanning on a subsample of these skulls to investigate these pathological features further. We compared the RCS historical collections and a more recent captive primate collection at the National Museum of Scotland. The findings suggest that a metabolic bone disease is the causative agent, with osteomalacia the likely diagnosis. Osteomalacia typically occurs due to malnutrition and/or insufficient ultraviolet light exposure and in this case reflects the inadequacy of zoo primate management during the late 19th and early 20th centuries. Developments have since been made in captive animal welfare as a result of improvements in nutrition and environment. Metabolic bone disease in primate captivity can be regarded as a lesson from the past

Sex estimation from virtual models: exploring the potential of stereolithic 3D crania models for morphoscopic trait scoring

UNLABELLED: Modern computed tomography (CT) databases are becoming an accepted resource for the practice and development of identification methods in forensic anthropology. However, the utility of 3D models created using free and open-source visualization software such as 3D Slicer has not yet been thoroughly assessed for morphoscopic biological profiling methods where virtual methods of analysis are becoming more common. This paper presents a study that builds on the initial findings from Robles et al. (2020) to determine the feasibility of estimating sex on stereolithic (STL) 3D cranial models produced from CT scans from a modern, living UK population (n = 80) using equation 2 from the Walker's (2008) morphoscopic method. Kendall's coefficients of concordance (KCC) indicated substantial agreement using cranial features scores in an inter-observer test and a video-inter-observer test. Fleiss' Kappa scores showed moderate agreement (0.50) overall between inter-observer sex estimations, and for observer sex estimations in comparison to recorded sexes (0.56). It was found that novice users could virtually employ morphoscopic sex estimation methods effectively on STL 3D cranial models from modern individuals. This study also highlights the potential that digital databases of modern living populations can offer forensic anthropology. KEY POINTS: First example of Walker's (2008) method applied to a living UK population.Open-source software is a valuable resource for crime reconstruction approaches.Male scoring bias was observed in method application.Forensic anthropologists would benefit from virtual anthropology training to use and interpret 3D models.Digital databases offer more ethical, diverse, modern populations for future research

A multi-method assessment of 3D printed micromorphological osteological features

The evaluation of 3D printed osteological materials has highlighted the difficulties associated with accurately representing fine surface details on printed bones. Moreover, there is an increasing need for reconstructions to be demonstrably accurate and reliable for use in the criminal justice system. The aim of this study was to assess the surface quality of 3D prints (n = 9) that presented with micromorphological alterations from trauma, taphonomy and pathology processes. The archaeological bones were imaged using micro-CT scanning and 3D printed with selective laser sintering (SLS) printing. A multi-method experimental approach subsequently identified: (1) the 3D printed bones to be metrically accurate to within 1.0 mm; (2) good representation of micromorphological surface features overall, albeit with some loss of intricate details, depths, and fine textures that can be important for visual processing; (3) five of the nine 3D printed bones were quantitatively scored as accurate using the visual comparison method; and, (4) low mesh comparison distances (± 0.2 mm) between the original models and the digitised 3D print models. The findings offer empirical data that can be used to underpin 3D printed reconstructions of exhibits for use in courts of law. In addition, an adaptable pathway was presented that can be used to assess 3D print accuracy in future reconstructions

Human identification: An investigation of 3D models of paranasal sinuses to establish a biological profile on a modern UK population

Medical imaging is a valuable source for facilitating empirical research and provides an accessible gateway for developing novel forensic anthropological methods for analysis including 3D modelling. This is especially critical for the United Kingdom (UK), where methods developed from modern UK populations do not currently exist. This study introduces a new approach to assist in human identification using 3D models of the paranasal sinuses. The models were produced from a database of 500 modern CT scans provided by University College London Hospital. Linear measurements and elliptic Fourier coefficients taken from 1500 three-dimensional models across six ethnic groups assessed by one-way ANOVA and discriminant function analysis showed a range of classification rates with certain rates reaching 75–85.7% (p < 0.05) in correctly classifying age and sex according to size and shape. The findings offer insights into the potential for employing paranasal sinuses as an attribute for establishing the identification of unknown human remains in future crime reconstructions

Extensive unusual lesions on a large number of immersed human victims found to be from cookiecutter sharks (Isistius spp.): an examination of the Yemenia plane crash.

Accurate determination of the origin and timing of trauma is key in medicolegal investigations when the cause and manner of death are unknown. However, distinction between criminal and accidental perimortem trauma and postmortem modifications can be challenging when facing unidentified trauma. Postmortem examination of the immersed victims of the Yemenia airplane crash (Comoros, 2009) demonstrated the challenges in diagnosing extensive unusual circular lesions found on the corpses. The objective of this study was to identify the origin and timing of occurrence (peri- or postmortem) of the lesions.A retrospective multidisciplinary study using autopsy reports (n = 113) and postmortem digital photos (n = 3 579) was conducted. Of the 113 victims recovered from the crash, 62 (54.9 %) presented unusual lesions (n = 560) with a median number of 7 (IQR 3 ∼ 13) and a maximum of 27 per corpse. The majority of lesions were elliptic (58 %) and had an area smaller than 10 cm2 (82.1 %). Some lesions (6.8 %) also showed clear tooth notches on their edges. These findings identified most of the lesions as consistent with postmortem bite marks from cookiecutter sharks (Isistius spp.). It suggests that cookiecutter sharks were important agents in the degradation of the corpses and thus introduced potential cognitive bias in the research of the cause and manner of death. A novel set of evidence-based identification criteria for cookiecutter bite marks on human bodies is developed to facilitate more accurate medicolegal diagnosis of cookiecutter bites.This is the final version of the article. It first appeared from Springer via http://dx.doi.org/10.1007/s00414-016-1449-

Sex estimation from virtual models: Exploring the potential of stereolithic (STL) 3D crania models for morphoscopic trait scoring

Modern computed tomography (CT) databases are becoming an accepted resource for the practice and development of identification methods in forensic anthropology. However, the utility of 3D models created using free and open-source visualisation software such as 3D Slicer have not yet been thoroughly assessed for morphoscopic biological profiling methods where virtual methods of analysis are becoming more common. This paper presents a study that builds on the initial findings from Robles et al. 2020 to determine the feasibility of estimating sex on STL 3D cranial models produced from CT scans from a modern, living UK population (n=80) using equation 2 from the Walker (2008) morphoscopic method. Kendall's coefficients of concordance (KCC) indicated substantial agreement using cranial features scores in an inter-observer test and a video-inter-observer test. Fleiss's kappa scores showed moderate agreement (0.50) overall between inter-observer sex estimations, and for observer sex estimations in comparison to recorded sexes (0.56). It was found that novice users could virtually employ morphoscopic sex estimation methods effectively on STL 3D cranial models from modern individuals. This study also highlights the potential that digital databases of modern living populations can offer forensic anthropology

ChromDB: The Chromatin Database

The ChromDB website (http://www.chromdb.org) displays chromatin-associated proteins, including RNAi-associated proteins, for a broad range of organisms. Our primary focus is to display sets of highly curated plant genes predicted to encode proteins associated with chromatin remodeling. Our intent is to make this intensively curated sequence information available to the research and teaching communities in support of comparative analyses toward understanding the chromatin proteome in plants, especially in important crop species such as corn and rice. Model animal and fungal proteins are included in the database to facilitate a complete, comparative analysis of the chromatin proteome and to make the database applicable to all chromatin researchers and educators. Chromatin biology and chromatin remodeling are complex processes involving a multitude of proteins that regulate the dynamic changes in chromatin structure which either repress or activate transcription. We strive to organize ChromDB data in a straightforward and comparative manner to help users understand the complement of proteins involved in packaging DNA into chromatin

New best1 mutations in autosomal recessive bestrophinopathy

PURPOSE: To report the ocular phenotype in patients with autosomal recessive bestrophinopathy and carriers, and to describe novel BEST1 mutations. METHODS: Patients with clinically suspected and subsequently genetically proven autosomal recessive bestrophinopathy underwent full ophthalmic examination and investigation with fundus autofluorescence imaging, spectral domain optical coherence tomography, electroretinography, and electrooculography. Mutation analysis of the BEST1 gene was performed through direct Sanger sequencing. RESULTS: Five affected patients from four families were identified. Mean age was 16 years (range, 6-42 years). All affected patients presented with reduced visual acuity and bilateral, hyperautofluorescent subretinal yellowish deposits within the posterior pole. Spectral domain optical coherence tomography demonstrated submacular fluid and subretinal vitelliform material in all patients. A cystoid maculopathy was seen in all but one patient. In 1 patient, the location of the vitelliform material was seen to change over a follow-up period of 3 years despite relatively stable vision. Visual acuity and fundus changes were unresponsive to topical and systemic carbonic anhydrase inhibitors and systemic steroids. Carriers had normal ocular examinations including normal fundus autofluorescence. Three novel mutations were detected. CONCLUSION: Three novel BEST1 mutations are described, suggesting that many deleterious variants in BEST1 resulting in haploinsufficiency are still unknown. Mutations causing autosomal recessive bestrophinopathy are mostly located outside of the exons that usually harbor vitelliform macular dystrophy-associated dominant mutations

Characterizing Long COVID: Deep Phenotype of a Complex Condition

BACKGROUND: Numerous publications describe the clinical manifestations of post-acute sequelae of SARS-CoV-2 (PASC or long COVID ), but they are difficult to integrate because of heterogeneous methods and the lack of a standard for denoting the many phenotypic manifestations. Patient-led studies are of particular importance for understanding the natural history of COVID-19, but integration is hampered because they often use different terms to describe the same symptom or condition. This significant disparity in patient versus clinical characterization motivated the proposed ontological approach to specifying manifestations, which will improve capture and integration of future long COVID studies. METHODS: The Human Phenotype Ontology (HPO) is a widely used standard for exchange and analysis of phenotypic abnormalities in human disease but has not yet been applied to the analysis of COVID-19. FINDINGS: We identified 303 articles published before April 29, 2021, curated 59 relevant manuscripts that described clinical manifestations in 81 cohorts three weeks or more following acute COVID-19, and mapped 287 unique clinical findings to HPO terms. We present layperson synonyms and definitions that can be used to link patient self-report questionnaires to standard medical terminology. Long COVID clinical manifestations are not assessed consistently across studies, and most manifestations have been reported with a wide range of synonyms by different authors. Across at least 10 cohorts, authors reported 31 unique clinical features corresponding to HPO terms; the most commonly reported feature was Fatigue (median 45.1%) and the least commonly reported was Nausea (median 3.9%), but the reported percentages varied widely between studies. INTERPRETATION: Translating long COVID manifestations into computable HPO terms will improve analysis, data capture, and classification of long COVID patients. If researchers, clinicians, and patients share a common language, then studies can be compared/pooled more effectively. Furthermore, mapping lay terminology to HPO will help patients assist clinicians and researchers in creating phenotypic characterizations that are computationally accessible, thereby improving the stratification, diagnosis, and treatment of long COVID. FUNDING: U24TR002306; UL1TR001439; P30AG024832; GBMF4552; R01HG010067; UL1TR002535; K23HL128909; UL1TR002389; K99GM145411