Arothron: an R package for virtual anthropology to build endocast and to perform digital reconstruction

Arothron is an R package [1] containing brand new tools for geometric morphometric analysis. The package comes with examples pertaining to the field of virtual anthropology, yet it is addressed to the entire audience of geometric morphometricians. The functions embedded in the package allow aligning disarticulated parts belonging to a single specimen (i.e. broken skull fragments), to build internal cavities such as endocasts, and to reproduce and analyse the shapes of three-dimensional objects. Arothron functions import and export landmark coordinates and 3D paths into ’landmarkAscii’ and ’am’ format files. The Digital Tool for Alignment (DTA) is a landmark-based methodology which allows aligning two or more portions of a 3D mesh (i.e. a disarticulated model, DM) by using a reference sample or model (RM) for comparison. To run DTA, a set of anatomical landmarks is defined on two separated portions of the DM. Each point of the landmark sets is moved to the nearest vertex of the triangles. This way, each landmark is identified by a number corresponding to a row of the vertex matrix of the mesh and its position is tracked on the 3D models moved in the Cartesian coordinate system.The second step is the alignment via Generalized Procrustes Analysis (GPA) of each part of the DM on each RM of the comparative sample, where the same landmark configuration as with the DM has been previously defined. The items of the reference sample are previously scaled to the mean of the single scale factors calculated for each half of the DM, separately, and symmetrized via reflection and relabelling, thereby producing a perfectly symmetrical, bilateral, and scaled landmark configurations (to avoid alignment error as introduced by asymmetry). The last step consists in the quantification of the morphological (Euclidean) distances between each part of the DM and the corresponding landmark configurations on each item in the RM set. Computer-Aided Laser Scanner Emulator (CA-LSE) and Automatic Segmentation Tool for 3D objects (AST-3D) are two new tools designed for the reconstruction of virtual cavities and external shapes [2]. CA-LSE provides the reconstruction of the external portions of a 3D mesh by simulating the action of a laser scanner. AST-3D performs the digital reconstruction of anatomical cavities as endocasts. Both tools use the definition of points of views that can be placed externally to the object (CA-LSE) or inside the object (AST-3D). By applying these tools is possible in few minutes to build virtual cavities as endocast, maxillary sinuses and trabecular bone. In the Arothron R package, we supplied three examples of reconstructing: the dental pulp cavity within a deciduous Neanderthal tooth, the network of blood vessels within a human malleus bone, and an endocast of a human skull.The tools could be used in virtual anthropology application.The digital alignment tool is efficient in find ideal alignments of broken pieces. It could be applied as the first step in virtual reconstruction on human fossil specimens that often consist of a disarticulated fragments such as BOU-VP12/130 (Australopithecus garhi), AL-442 (Australopithecus afarensis), OH5 (Paranthropus boisei), ATD6-15 and ATD6-69 (Homo antecessor), Amud 1 (Homo neanderthalensis), Le Moustier 1 (Homo neanderthalensis). The easily and quickly use of the Arothron R package to build virtual cavities may provide a new means largely applicable in virtual Anthropology. References:[1] Profico A., Veneziano A., Melchionna M., Piras P. & Raia P., 2018. Arothron: Geometric Morphometrics Analyses. R package version 1.0.1, developer version available at https://github/Arothron DOI:10.5281/zenodo.1218712.[2] Profico A., Schlager S., Valoriani V., Buzi C., Melchionna M., Veneziano A., Raia P., MoggifiCecchi J. & Manzi G., 2018. Reproducing the internal and external anatomy of fossil bones: Two new automatic digital tools. American Journal of Physical Anthropology

TAS2R38 is a novel modifer gene in patients with cystic fbrosis

The clinical manifestation of cystic fbrosis (CF) is heterogeneous also in patients with the same cystic fbrosis transmembrane regulator (CFTR) genotype and in afected sibling pairs. Other genes, inherited independently of CFTR, may modulate the clinical manifestation and complications of patients with CF, including the severity of chronic sinonasal disease and the occurrence of chronic Pseudomonas aeruginosa colonization. The T2R38 gene encodes a taste receptor and recently its functionality was related to the occurrence of sinonasal diseases and upper respiratory infections. We assessed the T2R38 genotype in 210 patients with CF and in 95 controls, relating the genotype to the severity of sinonasal disease and to the occurrence of P. aeruginosa pulmonary colonization. The frequency of the PAV allele i.e., the allele associated with the high functionality of the T2R38 protein, was signifcantly lower in i) CF patients with nasal polyposis requiring surgery, especially in patients who developed the complication before 14 years of age; and ii) in CF patients with chronic pulmonary colonization by P. aeruginosa, especially in patients who were colonized before 14 years of age, than in control subjects. These data suggest a role for T2R38 as a novel modifer gene of sinonasal disease severity and of pulmonary P. aeruginosa colonization in patients with CF

Morphometric maps of bilateral asymmetry in the human humerus: An implementation in the R package morphomap

In biological anthropology, parameters relating to cross-sectional geometry are calculated in paired long bones to evaluate the degree of lateralization of anatomy and, by inference, function. Here, we describe a novel approach, newly added to the morphomap R package, to assess the lateralization of the distribution of cortical bone along the entire diaphysis. The sample comprises paired long bones belonging to 51 individuals (10 females and 41 males) from The New Mexico Decedent Image Database with known biological profile, occupational and loading histories. Both males and females show a pattern of right lateralization. In addition, males are more lateralized than females, whereas there is not a significant association between lateralization with occupation and loading history. Body weight, height and long-bone length are the major factors driving the emergence of asymmetry in the humerus, while interestingly, the degree of lateralization decreases in the oldest individuals

Decoupling Functional and Morphological Convergence, the Study Case of Fossorial Mammalia

Morphological similarity between biological structures in phylogenetically distant species is usually regarded as evidence of convergent evolution. Yet, phenotypic similarity is not always a sign of natural selection acting on a particular trait, therefore adaptation to similar conditions may fail to generate convergent lineages. Herein we tested whether convergent evolution occurred in the humerus of fossorial mammals, one of the most derived biological structures among mammals. Clades adapting to digging kinematics possess unusual, by mammalian standards, humeral shapes. The application of a new, computationally fast morphological test revealed a single significant instance of convergence pertaining to the Japanese fossorial moles (Mogera) and the North-American fossorial moles (Scalopini). Yet, the pattern only manifests when trade-off performance data (derived from finite element analysis) are added to shape data. This result indicates that fossorial mammals have found multiple solutions to the same adaptive challenge, independently moving around multiple adaptive peaks. This study suggests the importance of accounting for functional trade-off measures when studying morpho-functional convergence. We revealed that fossorial mammals, a classic example of convergent evolution, evolved multiple strategies to exploit the subterranean ecotope, characterized by different functional trade-offs rather than converging toward a single adaptive optimum

A 450 million years long latitudinal gradient in age-dependent extinction.

Leigh Van Valen famously stated that under constant conditions extinction probability is independent of species age. To test this 'law of constant extinction', we developed a new method using deep learning to infer age-dependent extinction and analysed 450 myr of marine life across 21 invertebrate clades. We show that extinction rate significantly decreases with age in > 90% of the cases, indicating that most species died out soon after their appearance while those which survived experienced ever decreasing extinction risk. This age-dependent extinction pattern is stronger towards the Equator and holds true when the potential effects of mass extinctions and taxonomic inflation are accounted for. These results suggest that the effect of biological interactions on age-dependent extinction rate is more intense towards the tropics. We propose that the latitudinal diversity gradient and selection at the species level account for this exceptional, yet little recognised, macroevolutionary and macroecological pattern

A 450 million years long latitudinal gradient in age-dependent extinction

Leigh Van Valen famously stated that under constant conditions extinction probability is independent of species age. To test this 'law of constant extinction', we developed a new method using deep learning to infer age-dependent extinction and analysed 450 myr of marine life across 21 invertebrate clades. We show that extinction rate significantly decreases with age in > 90% of the cases, indicating that most species died out soon after their appearance while those which survived experienced ever decreasing extinction risk. This age-dependent extinction pattern is stronger towards the Equator and holds true when the potential effects of mass extinctions and taxonomic inflation are accounted for. These results suggest that the effect of biological interactions on age-dependent extinction rate is more intense towards the tropics. We propose that the latitudinal diversity gradient and selection at the species level account for this exceptional, yet little recognised, macroevolutionary and macroecological pattern

The deep-sea hub of the ANTARES neutrino telescope

The ANTARES neutrino telescope, currently under construction at 2500 m depth off the French Mediterranean coast, will contain 12 detection lines, powered and read out through a deep-sea junction box (JB) hub. Electrical energy from the shore station is distributed through a transformer with multiple secondary windings and a plugboard with 16 deep sea-mateable electro-optic connectors. Connections are made to the JB outputs using manned or remotely operated submersible vehicles. The triply redundant power management and slow control system is based on two identical AC-powered systems, communicating with the shore through 160 Mb/s fibre G-links and a third battery-powered system using a slower link. We describe the power and slow control systems of the underwater hub

Salivary cytokines and airways disease severity in patients with cystic fibrosis

About 50% of patients with cystic fibrosis (CF) have sinonasal complications, which include inferior turbinate hypertrophy (NTH) and/or nasal polyposis (NP), and different degrees of lung disease, which represents the main cause of mortality. Monitoring of sinonasal disease requires complex instrumental procedures, while monitoring of lung inflammation requires invasive collection of bronchoalveolar lavage fluid. The aim of this study was to investigate the associations between salivary cytokines levels and CF-related airway diseases. Salivary biochemical parameters and cytokines, i.e., interleukin-6 (IL-6), IL-8, and tumor necrosis factor alpha (TNF-α), were analyzed in resting saliva from healthy subjects and patients with CF. Patients with CF showed significantly higher levels of salivary chloride, IL-6, IL-8, and TNF-α and lower calcium levels than healthy subjects. Among patients with CF, IL-6 and IL-8 were significantly higher in patients with NTH, while TNF-α was significantly lower in patients with NP. A decreasing trend of TNF-α in patients with severe lung disease was also observed. On the other hand, we did not find significant correlation between cytokine levels and Pseudomonas aeruginosa or Stenotrophomonas maltophilia colonization. These preliminary results suggest that salivary IL-6 and IL-8 levels increase during the acute phase of sinonasal disease (i.e., NTH), while the end stages of pulmonary disease and sinonasal disease (i.e., NP) show decreased TNF-α level

A method for mapping morphological convergence on three-dimensional digital models: the case of the mammalian sabre-tooth

Morphological convergence can be assessed using a variety of statistical methods. None of the methods proposed to date enable the visualization of convergence. All are based on the assumption that the phenotypes either converge, or do not. However, between species, morphologically similar regions of a larger structure may behave differently. Previous approaches do not identify these regions within the larger structures or quantify the degree to which they may contribute to overall convergence. Here, we introduce a new method to chart patterns of convergence on three-dimensional models using the R function conv.map. The convergence between pairs of models is mapped onto them to visualize and quantify the morphological convergence. We applied conv.map to a well-known case study, the sabre-tooth morphotype, which has evolved independently among distinct mammalian clades from placentals to metatherians. Although previous authors have concluded that sabre-tooths kill using a stabbing ‘bite’ to the neck, others have presented different interpretations for specific taxa, including the iconic Smilodon and Thylacosmilus. Our objective was to identify any shared morphological features among the sabre-tooths that may underpin similar killing behaviours. From a sample of 49 placental and metatherian carnivores, we found stronger convergence among sabre-tooths than for any other taxa. The morphological convergence is most apparent in the rostral and posterior parts of the cranium. The extent of this convergence suggests similarity in function among these phylogenetically distant species. In our view, this function is most likely to be the killing of relatively large prey using a stabbing bite. © 2021 The Authors. Palaeontology published by John Wiley & Sons Ltd on behalf of The Palaeontological Association

An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

The main causes of familial hypercholesterolemia (FH) are mutations in LDL receptor (LDLR) gene. Functional studies are necessary to demonstrate the LDLR function impairment caused by mutations and would be useful as a diagnostic tool if they allow discrimination between FH patients and controls. In order to identify the best method to detect LDLR activity, we compared continuous Epstein-Barr virus (EBV)-transformed B-lymphocytes and mitogen stimulated T-lymphocytes. In addition, we characterized both novel and known mutations in the LDLR gene. T-lymphocytes and EBV-transformed B-lymphocytes were obtained from peripheral blood of 24 FH patients and 24 control subjects. Functional assays were performed by incubation with fluorescent LDL followed by flow cytometry analysis. Residual LDLR activity was calculated normalizing fluorescence for the mean fluorescence of controls. With stimulated T-lymphocytes we obtained a better discrimination capacity between controls and FH patients compared with EBV-transformed B-lymphocytes as demonstrated by receiver operating characteristic (ROC) curve analysis (the areas under the curve are 1.000 and 0.984 respectively; P < 0.0001 both). The characterization of LDLR activity through T-lymphocytes is more simple and faster than the use of EBV-transformed B-lymphocytes and allows a complete discrimination between controls and FH patients. Therefore the evaluation of residual LDLR activity could be helpful not only for mutation characterization but also for diagnostic purposes