julilili42/papers huggingface dataset:
Skeletal repatterning enhances the protective capacity of the shell in African hinge‐back tortoises (Kinixys)
2022-05-17

Abstract Changes in the structural association of skeletal traits are crucial to the evolution of novel forms and functions. In vertebrates, such rearrangements often occur gradually and may precede or coincide with the functional activation of skeletal traits. To illustrate this process, we examined the ontogeny of African hinge‐back tortoises ( Kinixys spp.). Kinixys species feature a moveable “hinge” on the dorsal shell (carapace) that enables shell closure (kinesis) when the hind limbs are withdrawn. This hinge, however, is absent in juveniles. Herein, we describe how this unusual phenotype arises via alterations in the tissue configuration and shape of the carapace. The ontogenetic repatterning of osseous and keratinous tissue coincided with shifts in morphological integration and the establishment of anterior (static) and posterior (kinetic) carapacial modules. Based on ex vivo skeletal movement and raw anatomy, we propose that Kinixys employs a “sliding hinge” shell‐closing system that overcomes thoracic rigidity and enhances the protective capacity of the carapace. Universal properties of the vertebrate skeleton, such as plasticity, modularity, and secondary maturation processes, contributed to adaptive evolutionary change in Kinixys . We discuss a hypothetical model to explain the delayed emergence of skeletal traits and its relevance to the origins of novel form‐to‐function relationships.
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
2022-05-18

Abstract Background Protein truncating variants in ATM , BRCA1 , BRCA2 , CHEK2 , and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods We analyzed data on 59,639 breast cancer cases and 53,165 controls from studies participating in the Breast Cancer Association Consortium BRIDGES project. We sampled training (80%) and validation (20%) sets to analyze rare missense variants in ATM (1146 training variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), and PALB2 (472). We evaluated breast cancer risks according to five in silico prediction-of-deleteriousness algorithms, functional protein domain, and frequency, using logistic regression models and also mixture models in which a subset of variants was assumed to be risk-associated. Results The most predictive in silico algorithms were Helix ( BRCA1 , BRCA2 and CHEK2 ) and CADD ( ATM ). Increased risks appeared restricted to functional protein domains for ATM (FAT and PIK domains) and BRCA1 (RING and BRCT domains). For ATM , BRCA1 , and BRCA2 , data were compatible with small subsets (approximately 7%, 2%, and 0.6%, respectively) of rare missense variants giving similar risk to those of protein truncating variants in the same gene. For CHEK2 , data were more consistent with a large fraction (approximately 60%) of rare missense variants giving a lower risk (OR 1.75, 95% CI (1.47–2.08)) than CHEK2 protein truncating variants. There was little evidence for an association with risk for missense variants in PALB2 . The best fitting models were well calibrated in the validation set. Conclusions These results will inform risk prediction models and the selection of candidate variants for functional assays and could contribute to the clinical reporting of gene panel testing for breast cancer susceptibility.
Reduced platelet forces underlie impaired hemostasis in mouse models of MYH9 -related disease
2022-05-18

MYH9 -related disease patients with mutations in the contractile protein nonmuscle myosin heavy chain IIA display, among others, macrothrombocytopenia and a mild-to-moderate bleeding tendency. In this study, we used three mouse lines, each with one point mutation in the Myh9 gene at positions 702, 1424, or 1841, to investigate mechanisms underlying the increased bleeding risk. Agonist-induced activation of Myh9 mutant platelets was comparable to controls. However, myosin light chain phosphorylation after activation was reduced in mutant platelets, which displayed altered biophysical characteristics and generated lower adhesion, interaction, and traction forces. Treatment with tranexamic acid restored clot retraction in the presence of tPA and reduced bleeding. We verified our findings from the mutant mice with platelets from patients with the respective mutation. These data suggest that reduced platelet forces lead to an increased bleeding tendency in patients with MYH9 -related disease, and treatment with tranexamic acid can improve the hemostatic function.
The contribution of integrated 3D model analysis to Protoaurignacian stone tool design
2022-05-18

Protoaurignacian foragers relied heavily on the production and use of bladelets. Techno-typological studies of these implements have provided insights into crucial aspects of cultural variability. However, new technologies have seldom been used to quantify patterns of stone tool design. Taking advantage of a new scanning protocol and open-source software, we conduct the first 3D analysis of a Protoaurignacian assemblage, focusing on the selection and modification of blades and bladelets. We study a large dataset of complete blanks and retouched tools from the early Protoaurignacian assemblage at Fumane Cave in northeastern Italy. Our main goal is to validate and refine previous techno-typological considerations employing a 3D geometric morphometrics approach complemented by 2D analysis of cross-section outlines and computation of retouch angle. The encouraging results show the merits of the proposed integrated approach and confirm that bladelets were the main focus of stone knapping at the site. Among modified bladelets, various retouching techniques were applied to achieve specific shape objectives. We suggest that the variability observed among retouched bladelets relates to the design of multi-part artifacts that need to be further explored via renewed experimental and functional studies.
Guidance in the chaos: Effects of science communication by virologists during the COVID-19 crisis in Germany and the role of parasocial phenomena
2022-05-18

During the COVID-19 pandemic, virologists gained a prominent role in traditional and social media in Germany; several participated in regular podcasts. Using a two-wave survey ( n = 696/361 at Time 1/2), we explore which impact the strong media presence of virologists had on media users and what role parasocial phenomena (asymmetric interactions and relationships with virologists) played. People who favored a specific virologist scored higher on various cognitive, affective, and behavioral outcomes. Exposure to the virologist was related to these outcomes and parasocial phenomena turned out as an intervening variable between exposure and subjective and objective knowledge (time 1), solace, and behavioral engagement (both times). We did not, however, find effects over time when controlling for the time 1 values, which rather speak against more long-term media effects. A higher need for leadership also predicted the formation of parasocial phenomena. We discuss the theoretical implications for the role of parasocial phenomena in science communication via digital media.
Individual variation and plasticity in the infant-directed communication of orang-utan mothers
2022-05-18

Between-individual variation in behavioural expression, such as social responsiveness, has been shown to have important eco-evolutionary consequences. However, most comparative research on non-human primate communication has focused on species- or population-level variation, while among- and within-individual variation has been largely ignored or considered as noise. Here, we apply a behavioural reaction norm framework to repeated observations of mother–offspring interactions in wild and zoo-housed orang-utans ( Pongo abelii, P. pygmaeus ) to tease apart variation on the individual level from population-level and species-level differences. Our results showed that mothers not only differed in the composition of their infant-directed gestural repertoires, but also in communicative tactics, such as gestural redoings (i.e. persistence) and responsiveness to infants' requests. These differences remained after controlling for essential moderators, including species, setting, parity and infant age. Importantly, mothers differed in how they adjusted their behaviour across social contexts, making a strong case for investigating within-individual variation. Our findings highlight that partitioning behavioural variation into its within-individual, between-individual and environmental sources allows us to estimate the extent of plastic responses to the immediate environment in great ape communication.
More focal, less heterogeneous? Multi-level meta-analysis of cathodal high-definition transcranial direct current stimulation effects on language and cognition
2022-05-18

Abstract High-definition transcranial direct current stimulation (HD-tDCS) is a relatively focal, novel non-invasive brain stimulation method with the potential to investigate the causal contributions of specific cortical brain regions to language and cognition. Studies with HD-tDCS typically employ a 4 × 1 electrode design with a single central target electrode surrounded by four return electrodes, among which return current intensity is evenly distributed. With cathodal HD-tDCS, neural excitability in the target region is assumed to be reduced, which offers interesting perspectives for neuropsychological research and interventions. This multi-level meta-analysis compiles published studies using cathodal HD-tDCS in 4 × 1 configuration to modulate cognition and behavior. Regarding HD-tDCS, 77 effect sizes were gathered from 11 eligible reports. We extended this database with 52 effect sizes from 11 comparable reports using conventional tDCS with cathodal polarity. We observed no significant overall effect and no moderation by within-study and between-study variables in HD. In the extended analysis, results suggested a non-linear moderation of cathodal tDCS effects by intensity, driven by negative effect sizes at 1.5 mA. However, studies varied tremendously in task parameters, outcomes, and even technical parameters. Interestingly, within-study heterogeneity exceeded between-study heterogeneity in the present sample, and moderators hardly reduced the residual heterogeneity. Across domains and configurations, both positive and negative effect sizes are possible. We discuss the findings in relation to conventional cathodal tDCS and the framework of polarity specificity. Fundamental aspects of cathodal HD-tDCS are still to be addressed in future research.
Skull Sutures and Cranial Mechanics in the Permian Reptile Captorhinus aguti and the Evolution of the Temporal Region in Early Amniotes
2022-05-18

While most early limbed vertebrates possessed a fully-roofed dermatocranium in their temporal skull region, temporal fenestrae and excavations evolved independently at least twice in the earliest amniotes, with several different variations in shape and position of the openings. Yet, the specific drivers behind this evolution have been only barely understood. It has been mostly explained by adaptations of the feeding apparatus as a response to new functional demands in the terrestrial realm, including a rearrangement of the jaw musculature as well as changes in strain distribution. Temporal fenestrae have been retained in most extant amniotes but have also been lost again, notably in turtles. However, even turtles do not represent an optimal analog for the condition in the ancestral amniote, highlighting the necessity to examine Paleozoic fossil material. Here, we describe in detail the sutures in the dermatocranium of the Permian reptile Captorhinus aguti (Amniota, Captorhinidae) to illustrate bone integrity in an early non-fenestrated amniote skull. We reconstruct the jaw adductor musculature and discuss its relation to intracranial articulations and bone flexibility within the temporal region. Lastly, we examine whether the reconstructed cranial mechanics in C. aguti could be treated as a model for the ancestor of fenestrated amniotes. We show that C. aguti likely exhibited a reduced loading in the areas at the intersection of jugal, squamosal, and postorbital, as well as at the contact between parietal and postorbital. We argue that these “weak” areas are prone for the development of temporal openings and may be treated as the possible precursors for infratemporal and supratemporal fenestrae in early amniotes. These findings provide a good basis for future studies on other non-fenestrated taxa close to the amniote base, for example diadectomorphs or other non-diapsid reptiles.
Fire, climate and biotic interactions shape diversity patterns along an Afrotropical elevation gradient
2022-05-18

Abstract Aim Untangling multiple drivers influencing biodiversity along elevation gradients is necessary for predicting the consequences of climate change on mountain communities. We examine the direct and indirect effects of macroclimate, edaphic conditions, fire frequency and putative biotic interactions on species richness and abundance of co‐occurring primary producers on Mount Cameroon. Location Mount Cameroon, Cameroon. Taxon: vascular plants, bryophytes and lichens, and soil microbial phototrophs. Methods We combine ground‐level survey of multi‐taxa diversity, soil nutrient stoichiometry, continuous climate monitoring using dataloggers and remote sensing data, for 115 plots sampled along a 2200–4000 m elevation gradient. We used GAMs to assess elevational patterns in ecosystem properties and SEMs to determine their direct and indirect effects on species richness and abundance. Results Vascular plant diversity peaked at mid‐elevation and emerged from the combined effects of intermediate levels of energy, total above‐ground standing biomass, fire frequency, guild abundances and edaphic conditions. Bryophyte–lichen diversity increased monotonically towards high elevation with decreasing temperature and increasing nutrient scarcity, while the diversity of soil phototrophs peaked at both lower elevation fire‐prone Afromontane and cold higher elevation Afroalpine zones. The role of macroclimate was indirect and scale dependent. Higher temperatures increased plant richness mainly indirectly via enhanced fire frequency, while soil N:P ratio had direct positive effect on plant richness. Precipitation decreased plant richness indirectly via decreased fire frequency. Fires also increased plant and bryophyte–lichen cover. Positive bryophyte–lichen and vascular plants associations strengthened in the Afroalpine zone. Main conclusions We demonstrate the role of disturbance/fire and biotic interactions in mitigating macroclimate effects and in controlling variation in community diversity along elevation gradients. While the macroclimate is often a strong predictor of ecological patterns along elevation gradients, our study illustrates that attributing these patterns exclusively to climate can lead to an incorrect assessment of the impact of climate change on biodiversity.
High Protein Diets Improve Liver Fat and Insulin Sensitivity by Prandial but Not Fasting Glucagon Secretion in Type 2 Diabetes
2022-05-18

Glucagon (GCGN) plays a key role in glucose and amino acid (AA) metabolism by increasing hepatic glucose output. AA strongly stimulate GCGN secretion which regulates hepatic AA degradation by ureagenesis. Although increased fasting GCGN levels cause hyperglycemia GCGN has beneficial actions by stimulating hepatic lipolysis and improving insulin sensitivity through alanine induced activation of AMPK. Indeed, stimulating prandial GCGN secretion by isocaloric high protein diets (HPDs) strongly reduces intrahepatic lipids (IHLs) and improves glucose metabolism in type 2 diabetes mellitus (T2DM). Therefore, the role of GCGN and circulating AAs in metabolic improvements in 31 patients with T2DM consuming HPD was investigated. Six weeks HPD strongly coordinated GCGN and AA levels with IHL and insulin sensitivity as shown by significant correlations compared to baseline. Reduction of IHL during the intervention by 42% significantly improved insulin sensitivity [homeostatic model assessment for insulin resistance (HOMA-IR) or hyperinsulinemic euglycemic clamps] but not fasting GCGN or AA levels. By contrast, GCGN secretion in mixed meal tolerance tests (MMTTs) decreased depending on IHL reduction together with a selective reduction of GCGN-regulated alanine levels indicating greater GCGN sensitivity. HPD aligned glucose metabolism with GCGN actions. Meal stimulated, but not fasting GCGN, was related to reduced liver fat and improved insulin sensitivity. This supports the concept of GCGN-induced hepatic lipolysis and alanine- and ureagenesis-induced activation of AMPK by HPD.
Unexpected cranial sexual dimorphism in the tragulid Dorcatherium naui based on material from the middle to late Miocene localities of Eppelsheim and Hammerschmiede (Germany)
2022-05-18

Tragulids, chevrotains or mouse deer, were common faunal elements during the Miocene. During that time, Dorcatherium was the most abundant genus, with D . naui being the first described species. Besides their abundance, until recently only very limited cranial material was available for investigation. Here we present a redescription of the first complete skull of D . naui from the middle to late Miocene locality of Eppelsheim, Germany, based on micro-computed tomography. Furthermore, we present a description and comparison of two additional, new skulls of D . naui from the late Miocene hominid locality Hammerschmiede, Germany. Within Dorcatherium , so far, only three other complete skulls are known, all belonging to D . crassum . A comparison between the three skulls of D . naui and the already known skulls of D . crassum shows that these two species differ in morphological features of the skull, such as laterally facing orbitae, separation of supraorbital foramen from supraorbital groove by a bony bridge, well-developed parietal plateau, prominent nuchal tubercle, less-developed nuchal crests, and the presence of an occipital crest. Moreover, two different osteological morphotypes are present in the skulls of D . naui that can be interpreted as a previously unknown sexual dimorphism. Very similar features are observed in D . crassum , which can be likewise related to the same dimorphism. However, males of D . naui differ from males of D . crassum by the presence of frontoparietal bulges, which were probably used for sexual display and during male-male combats in males of D . naui . For the first time, sexual dimorphism in Dorcatherium is described based on skull characteristics, which are, so far, unknown from any other fossil or extant tragulid.
Hepatic Hedgehog Signaling Participates in the Crosstalk between Liver and Adipose Tissue in Mice by Regulating FGF21
2022-05-18

The Hedgehog signaling pathway regulates many processes during embryogenesis and the homeostasis of adult organs. Recent data suggest that central metabolic processes and signaling cascades in the liver are controlled by the Hedgehog pathway and that changes in hepatic Hedgehog activity also affect peripheral tissues, such as the reproductive organs in females. Here, we show that hepatocyte-specific deletion of the Hedgehog pathway is associated with the dramatic expansion of adipose tissue in mice, the overall phenotype of which does not correspond to the classical outcome of insulin resistance-associated diabetes type 2 obesity. Rather, we show that alterations in the Hedgehog signaling pathway in the liver lead to a metabolic phenotype that is resembling metabolically healthy obesity. Mechanistically, we identified an indirect influence on the hepatic secretion of the fibroblast growth factor 21, which is regulated by a series of signaling cascades that are directly transcriptionally linked to the activity of the Hedgehog transcription factor GLI1. The results of this study impressively show that the metabolic balance of the entire organism is maintained via the activity of morphogenic signaling pathways, such as the Hedgehog cascade. Obviously, several pathways are orchestrated to facilitate liver metabolic status to peripheral organs, such as adipose tissue.
Legal Challenges to Restrictions on Assistance in Suicide in Italy, Germany and Austria: An Ethico-Legal Analysis
2022-05-18

Abstract This paper deals with a series of legal cases in Italy, Germany, and Austria, between September 2019 and December 2020, which ruled that laws prohibiting or restricting assistance in suicide were unconstitutional. There are similarities between these three cases, all of which are influenced by the practice of assisted suicide in Switzerland, but also differences, not least because of the antecedent legal contexts. Each case is based on flawed reasoning. They have in common an exaggerated account of autonomy or self-determination, insufficiently qualified by the duty to protect human life or by other ethical constraints. The Italian and Austrian Courts also appeal to the principle of equality and to a supposed analogy with refusal of life-sustaining treatments, both of which raise concerns in relation to further expansion of the provisions. In responding to these flawed judgements, legislators should favour proposals that prevent the normalisation of assisted and non-assisted suicide.
MapOSR - A mapping review dataset of empirical studies on Open Science
2022-05-18

<ns4:p>Research that investigates respective researchers’ engagement in Open Science varies widely in the topics addressed, methods employed, and disciplines investigated, which makes it difficult to integrate and compare its results. To investigate current outcomes of Open Science research, and to get a better understanding on well-researched topics and research gaps, we aimed at providing an openly accessible overview of empirical studies that focus on different aspects of Open Science in different scientific disciplines, academic groups and geographical regions. In this paper, we describe a data set of studies about Open Science practices retrieved following a PRISMA approach to compile a literature review. We included studies from the Scopus and Web of Science databases with keywords relating to Open Science between the years 2000 and 2020, as well as a snowball search for relevant articles. Studies that did not investigate any aspect of Open Science, or weren’t peer-reviewed were excluded, resulting in a total of 695 remaining studies.<ns4:italic> </ns4:italic>The data set was collaboratively annotated to ensure intercoder reliability of the coded data.</ns4:p>