cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.14054266
title: Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing

description: <b>Background</b>: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR variants, some reduce but do not completely eliminate tyrosinase activity, allowing residual production of melanin and resulting in a contradictory assignment as either pathogenic or benign, preventing a precise clinical diagnostic. <b>Materials and Methods</b>: In the present work, we performed Whole Exome Sequencing and subsequent Sanger sequencing in a young male clinically diagnosed with OCA. <b>Results</b>: Whole-exome sequencing analysis revealed the identification of two variants in trans in TYR. The first, corresponds to a known pathogenic variant G47D, while the second S192Y, was considered a polymorphism due to its relatively high frequency in the European population. <b>Conclusion</b>: The lack of other pathogenic variants in TYR, the reported reduced enzymatic activity (ca. 40% respect to wt) for S192Y, together with the structural in-silico analysis strongly suggest that both reported variants are jointly disease-causing and that S192Y should be considered as likely pathogenic, especially when it is found in trans with a null variant.
DOI: 10.6084/m9.figshare.19583425
title: Heart failure as a complication of COVID-19 infection: systematic review and meta-analysis

description: The prevalence and prognostic implications of heart failure (HF), as a complication of COVID-19 infection remains unclear. We performed a systematic review and metanalysis aimed to evaluate the pooled incidence of acute HF as a cardiac complication of COVID-19 disease and to estimate the related mortality risk in these patients. Data were obtained searching MEDLINE, Scopus and Web of Science for all investigations published any time to 26 December 2020. If statistical heterogeneity was 50%, the results were derived from the fixed-effects model otherwise the random-effects model. Overall, 1064 patients [mean age 66 years, 618 males] were included in the final analysis reviewing six investigations. The cumulative in-hospital rate of COVID-19 patients complicated by acute HF ranged between 6.9 and 63.4% among the studies reviewed. A random effect model revealed a pooled incidence of COVID-19 patients complicated by acute HF in 20.2% of cases (95% CI: 11.1–33.9%, <i>p</i> &lt; 0.0001 I2 = 94.4%). A second pooled analysis, based on a random-effect model, confirmed a significant increased risk of death in COVID-19 patients complicated by acute HF during the infection (OR 9.36, 95% CI 4.76–18.4, <i>p</i> &lt; 0.0001, I2 = 56.6%). Meta-regression analysis, using age as moderator variable, failed in founding a statistically significant relationship with the incidence of acute HF onset as a complication of COVID-19 disease (<i>p</i> = 0.062) or the mortality risk among the same subjects (<i>p</i> = 0.053). Acute HF represents a frequent complication of COVID-19 infection associated with a higher risk of mortality in the short-term period.
DOI: 10.6084/m9.figshare.19583425.v1
title: Heart failure as a complication of COVID-19 infection: systematic review and meta-analysis

description: The prevalence and prognostic implications of heart failure (HF), as a complication of COVID-19 infection remains unclear. We performed a systematic review and metanalysis aimed to evaluate the pooled incidence of acute HF as a cardiac complication of COVID-19 disease and to estimate the related mortality risk in these patients. Data were obtained searching MEDLINE, Scopus and Web of Science for all investigations published any time to 26 December 2020. If statistical heterogeneity was 50%, the results were derived from the fixed-effects model otherwise the random-effects model. Overall, 1064 patients [mean age 66 years, 618 males] were included in the final analysis reviewing six investigations. The cumulative in-hospital rate of COVID-19 patients complicated by acute HF ranged between 6.9 and 63.4% among the studies reviewed. A random effect model revealed a pooled incidence of COVID-19 patients complicated by acute HF in 20.2% of cases (95% CI: 11.1–33.9%, <i>p</i> &lt; 0.0001 I2 = 94.4%). A second pooled analysis, based on a random-effect model, confirmed a significant increased risk of death in COVID-19 patients complicated by acute HF during the infection (OR 9.36, 95% CI 4.76–18.4, <i>p</i> &lt; 0.0001, I2 = 56.6%). Meta-regression analysis, using age as moderator variable, failed in founding a statistically significant relationship with the incidence of acute HF onset as a complication of COVID-19 disease (<i>p</i> = 0.062) or the mortality risk among the same subjects (<i>p</i> = 0.053). Acute HF represents a frequent complication of COVID-19 infection associated with a higher risk of mortality in the short-term period.
DOI: 10.6084/m9.figshare.12852654.v1
title: The style of Ingmar Bergman’s films

description: This analysis of the style of Ingmar Bergman’s films uses methods of treating film style that were first proposed and put into practice over 40 years ago by the author. Since then they have been applied to a very large number and range of films, and the results of these investigations published in books and in the New Review of Film and Television Studies. The basic technique of analysis used is drawing on the terms and categories used by film-makers in creating the films. It also gives weight to the film-maker’s ideas about what they are doing and why. The local and international context of the work of the film-maker also contributes to the analysis. After a brief summary of Ingmar Bergman’s film-making career and his films, his individual films are analysed in terms of the characteristics of the shots in them, such as length, closeness of camera, camera movement, POV, and so on. A simple statistical consideration of all these quantities enables a new separation of Bergman’s career into three phases from this perspective, with the film <i>Persona</i> being one of the turning points. Using a new technique of digital frame analysis, other points emerge regarding the development of his handling of actor movement and camera movement in his staging of love scenes, which gives rise to what could be called the Bergman signature shot. Another discovery is that Bergman’s two best known films, <i>Det sjunde inseglet</i> and <i>Smultronstället</i> are stylistically anomalous in his work.
DOI: 10.6084/m9.figshare.12852654
title: The style of Ingmar Bergman’s films

description: This analysis of the style of Ingmar Bergman’s films uses methods of treating film style that were first proposed and put into practice over 40 years ago by the author. Since then they have been applied to a very large number and range of films, and the results of these investigations published in books and in the New Review of Film and Television Studies. The basic technique of analysis used is drawing on the terms and categories used by film-makers in creating the films. It also gives weight to the film-maker’s ideas about what they are doing and why. The local and international context of the work of the film-maker also contributes to the analysis. After a brief summary of Ingmar Bergman’s film-making career and his films, his individual films are analysed in terms of the characteristics of the shots in them, such as length, closeness of camera, camera movement, POV, and so on. A simple statistical consideration of all these quantities enables a new separation of Bergman’s career into three phases from this perspective, with the film <i>Persona</i> being one of the turning points. Using a new technique of digital frame analysis, other points emerge regarding the development of his handling of actor movement and camera movement in his staging of love scenes, which gives rise to what could be called the Bergman signature shot. Another discovery is that Bergman’s two best known films, <i>Det sjunde inseglet</i> and <i>Smultronstället</i> are stylistically anomalous in his work.
DOI: 10.6084/m9.figshare.20146943
title: G-SchNet for OE62

description: OE62 data set + molecues generated with G-SchNet trained on the OE62 data set. Minimal tutorial for using the SchNet+H models and the adapted G-SchNet model individually and for creating new molecules with targeted properties. Includes the code from https://github.com/rhyan10/G-SchNetOE62 and https://github.com/schnarc/SchNarc/ used for this tutorial.
DOI: 10.6084/m9.figshare.17048223
title: New reactions of diazene and related species for modelling combustion of amine fuels

description: Potential energy surfaces for reactions involving N2H2 isomers of diazene (diimide) have been explored using density functional theory, with energies based on coupled-cluster theory. A focus is on processes that create or consume these species, and isomerisation between the E (trans) and Z (cis) forms of HNNH. These include isomerisation and dissociation pathways for HNNH, addition of H atoms to form N2H3, abstraction by H atoms yielding short-lived NNH, and abstraction reactions of H with N2H3. Transition state and capture theories are applied for high-pressure-limiting behaviour, while low-pressure and falloff regions are characterised via the methods of Troe and coworkers. Rate constants and thermochemistry are provided to improve models of diamine chemistry, relevant to the combustion of NH3 especially at high concentrations, high pressures or under reducing conditions. Results indicate that amine radical recombination mainly yields the E HNNH isomer, while H-abstraction from N2H3 results in E HNNH and H2NN. However, at elevated temperature E → Z isomerisation becomes competitive, and Z HNNH, being more reactive, acts to enhance the diazene consumption rate.
DOI: 10.6084/m9.figshare.17048223.v1
title: New reactions of diazene and related species for modelling combustion of amine fuels

description: Potential energy surfaces for reactions involving N2H2 isomers of diazene (diimide) have been explored using density functional theory, with energies based on coupled-cluster theory. A focus is on processes that create or consume these species, and isomerisation between the E (trans) and Z (cis) forms of HNNH. These include isomerisation and dissociation pathways for HNNH, addition of H atoms to form N2H3, abstraction by H atoms yielding short-lived NNH, and abstraction reactions of H with N2H3. Transition state and capture theories are applied for high-pressure-limiting behaviour, while low-pressure and falloff regions are characterised via the methods of Troe and coworkers. Rate constants and thermochemistry are provided to improve models of diamine chemistry, relevant to the combustion of NH3 especially at high concentrations, high pressures or under reducing conditions. Results indicate that amine radical recombination mainly yields the E HNNH isomer, while H-abstraction from N2H3 results in E HNNH and H2NN. However, at elevated temperature E → Z isomerisation becomes competitive, and Z HNNH, being more reactive, acts to enhance the diazene consumption rate.
DOI: 10.6084/m9.figshare.14798713.v1
title: Beyond the helium buffer: <sup>12</sup>C<sup>−</sup><sub>2</sub> rotational cooling in cold traps with H<sub>2</sub> as a partner gas: interaction forces and quantum dynamics

description: The scattering cross-sections and corresponding rate coefficients for rotationally inelastic collisions of 12C2− (2Σg+) with H2 (1Σg+) are presented over a broad range of cold-trap temperatures. They have been calculated using quantum scattering theory that employs a new <i>ab initio</i> potential energy surface. The rate coefficients for the inelastic processes in the anionic partner are used to model the thermalisation dynamics of 12C2− using H2 as a buffer gas, a trap partner which is found here to be far more efficient than the typical buffer gas He and even more so than when using Ar as a partner gas. The microscopic physics underlying these findings is discussed in some detail. We additionally compute and discuss 12C2− quadrupole transitions by spontaneous emission and use the newly computed rates to show that the anion's rotational levels should be in local thermal equilibrium at typical interstellar conditions.
DOI: 10.6084/m9.figshare.14798713
title: Beyond the helium buffer: <sup>12</sup>C<sup>−</sup><sub>2</sub> rotational cooling in cold traps with H<sub>2</sub> as a partner gas: interaction forces and quantum dynamics

description: The scattering cross-sections and corresponding rate coefficients for rotationally inelastic collisions of 12C2− (2Σg+) with H2 (1Σg+) are presented over a broad range of cold-trap temperatures. They have been calculated using quantum scattering theory that employs a new <i>ab initio</i> potential energy surface. The rate coefficients for the inelastic processes in the anionic partner are used to model the thermalisation dynamics of 12C2− using H2 as a buffer gas, a trap partner which is found here to be far more efficient than the typical buffer gas He and even more so than when using Ar as a partner gas. The microscopic physics underlying these findings is discussed in some detail. We additionally compute and discuss 12C2− quadrupole transitions by spontaneous emission and use the newly computed rates to show that the anion's rotational levels should be in local thermal equilibrium at typical interstellar conditions.
DOI: 10.6084/m9.figshare.16547722.v1
title: New light on acetone: a master equation model for gas phase photophysics and photochemistry

description: This paper presents a unified model of gas phase acetone photophysics and photochemistry that is based on experimental data, which are reviewed and discussed in detail, and a detailed microcanonical master equation formulation. The model accounts for experimental measurements in molecular beams as well as in thermal systems, leads to a new interpretation of some experiments, and reveals a fundamental property of quantum yield measurements that are relevant to atmospheric chemistry. It also furnishes a platform for future theoretical and experimental developments.
DOI: 10.6084/m9.figshare.16547722
title: New light on acetone: a master equation model for gas phase photophysics and photochemistry

description: This paper presents a unified model of gas phase acetone photophysics and photochemistry that is based on experimental data, which are reviewed and discussed in detail, and a detailed microcanonical master equation formulation. The model accounts for experimental measurements in molecular beams as well as in thermal systems, leads to a new interpretation of some experiments, and reveals a fundamental property of quantum yield measurements that are relevant to atmospheric chemistry. It also furnishes a platform for future theoretical and experimental developments.
DOI: 10.6084/m9.figshare.20424244
title: Revealing the role of past and current climate in shaping the distribution of two parapatric European bats, <i>Myotis daubentonii</i> and <i>M. capaccinii</i>

description: In this contribution, we aim at determining the role of climate in shaping the current and historical (Last Glacial Maximum and Middle Holocene) distributions of two parapatric bat species (<i>Myotis daubentonii</i> and <i>Myotis capaccinii</i>) in Europe, using ensemble Habitat Suitability Modelling (HSM). Model projection to current climatic conditions predicted distributions largely coherent with the ones observed for the two species in the study area. Temperature- and precipitation-linked variables well accounted for the observed parapatry of the two target species. Moreover, areas of co-occurrence turned out to be those where the main ecological needs concerning the most important range-limiting variables are met for both species. Model projections to past scenarios allowed us to hypothesize the effects of climatic oscillations over the distribution of the two species during the Late Pleistocene and Holocene. Extreme range contractions during the Last Glacial Maximum and the subsequent expansions during Middle Holocene were predicted, consistently with general patterns of post-glacial recolonization routes of many temperate bat species in Europe. Our findings are largely coherent with recent phylogeographic studies investigating the two target species, thus corroborating the validity of potential distribution scenarios obtained from the models and, more importantly, confirming the great influence that glacial cycles had in shaping the biogeography of the European fauna.
DOI: 10.6084/m9.figshare.20424244.v1
title: Revealing the role of past and current climate in shaping the distribution of two parapatric European bats, <i>Myotis daubentonii</i> and <i>M. capaccinii</i>

description: In this contribution, we aim at determining the role of climate in shaping the current and historical (Last Glacial Maximum and Middle Holocene) distributions of two parapatric bat species (<i>Myotis daubentonii</i> and <i>Myotis capaccinii</i>) in Europe, using ensemble Habitat Suitability Modelling (HSM). Model projection to current climatic conditions predicted distributions largely coherent with the ones observed for the two species in the study area. Temperature- and precipitation-linked variables well accounted for the observed parapatry of the two target species. Moreover, areas of co-occurrence turned out to be those where the main ecological needs concerning the most important range-limiting variables are met for both species. Model projections to past scenarios allowed us to hypothesize the effects of climatic oscillations over the distribution of the two species during the Late Pleistocene and Holocene. Extreme range contractions during the Last Glacial Maximum and the subsequent expansions during Middle Holocene were predicted, consistently with general patterns of post-glacial recolonization routes of many temperate bat species in Europe. Our findings are largely coherent with recent phylogeographic studies investigating the two target species, thus corroborating the validity of potential distribution scenarios obtained from the models and, more importantly, confirming the great influence that glacial cycles had in shaping the biogeography of the European fauna.
DOI: 10.6084/m9.figshare.12851351.v3
title: Autophagy coupled to translation is required for long-term memory

description: An increase in protein synthesis following learning is a fundamental and evolutionarily conserved mechanism of long-term memory. To maintain homeostasis, this protein synthesis must be counterbalanced by mechanisms such as protein degradation. Recent studies reported that macroautophagy/autophagy, a major protein degradation mechanism, is required for long-term memory formation. However, how learning regulates autophagy and recruits it into long-term memory formation remains to be established. Here, we show that inhibitory avoidance in rats significantly increases the levels of autophagy and lysosomal degradation proteins, including BECN1/beclin 1, LC3-II, SQSTM1/p62 and LAMP1, as well as autophagic flux in the hippocampus. Moreover, pharmacological inhibition or targeted molecular disruption of the learning-induced autophagy impairs long-term memory, leaving short-term memory intact. The increase in autophagy proteins results from active translation of their mRNA and not from changes in their total mRNA levels. Additionally, the induction of autophagy requires the immediate early gene <i>Arc</i>/<i>Arg3.1</i>. Finally, in contrast to classical regulation of autophagy in other systems, we found that the increase in autophagy upon learning is dispensable for the increase in protein synthesis. We conclude that coupling between learning-induced translation and autophagy, rather than translation <i>per se</i>, is an essential mechanism of long-term memory. AAV: adeno-associated virus; ARC/ARG3.1: activity regulated cytoskeletal-associated protein; ATG: autophagy related; DG: dentate gyrus; GFP: green fluorescent protein; IA: inhibitory avoidance; LAMP1: lysosomal-associated membrane protein 1; MAP1LC3B/LC3B: microtubule-associated protein 1 light chain 3 beta; ODN: oligodeoxynucleotide; qPCR: quantitative polymerase chain reaction; SBI: SBI0206965; SQSTM1/p62: sequestosome 1; SUnSET: surface sensing of translation; TRAP: translating ribosome affinity purification; ULK1: unc-51 like kinase 1
DOI: 10.6084/m9.figshare.12851351
title: Autophagy coupled to translation is required for long-term memory

description: An increase in protein synthesis following learning is a fundamental and evolutionarily conserved mechanism of long-term memory. To maintain homeostasis, this protein synthesis must be counterbalanced by mechanisms such as protein degradation. Recent studies reported that macroautophagy/autophagy, a major protein degradation mechanism, is required for long-term memory formation. However, how learning regulates autophagy and recruits it into long-term memory formation remains to be established. Here, we show that inhibitory avoidance in rats significantly increases the levels of autophagy and lysosomal degradation proteins, including BECN1/beclin 1, LC3-II, SQSTM1/p62 and LAMP1, as well as autophagic flux in the hippocampus. Moreover, pharmacological inhibition or targeted molecular disruption of the learning-induced autophagy impairs long-term memory, leaving short-term memory intact. The increase in autophagy proteins results from active translation of their mRNA and not from changes in their total mRNA levels. Additionally, the induction of autophagy requires the immediate early gene <i>Arc</i>/<i>Arg3.1</i>. Finally, in contrast to classical regulation of autophagy in other systems, we found that the increase in autophagy upon learning is dispensable for the increase in protein synthesis. We conclude that coupling between learning-induced translation and autophagy, rather than translation <i>per se</i>, is an essential mechanism of long-term memory. AAV: adeno-associated virus; ARC/ARG3.1: activity regulated cytoskeletal-associated protein; ATG: autophagy related; DG: dentate gyrus; GFP: green fluorescent protein; IA: inhibitory avoidance; LAMP1: lysosomal-associated membrane protein 1; MAP1LC3B/LC3B: microtubule-associated protein 1 light chain 3 beta; ODN: oligodeoxynucleotide; qPCR: quantitative polymerase chain reaction; SBI: SBI0206965; SQSTM1/p62: sequestosome 1; SUnSET: surface sensing of translation; TRAP: translating ribosome affinity purification; ULK1: unc-51 like kinase 1
DOI: 10.6084/m9.figshare.12957008.v1
title: Songbird and birdsong: Listening to the finches in the Harz region, Germany

description: The present study is chiefly directed to the way in which birders perceive and evaluate birdsong and how they behave towards it, including in certain rituals in which birdsong contests play an important part. The tradition of songbird competitions as a living cultural heritage is well exemplified by the long tradition of the <i>Finkerei</i> in the Harz region, Germany. In the Harz song contests, I argue, birdsongs are far from “naturalistic”. They are “sonic things” that emerge from sophisticated training and experimentation, ritualistic rules, practices of competition, and the judging of birdsongs. In short, they are a deliberately sought outcome. This approach to the Harz contests places the finch song within the concept of a cultural product of an intangible nature. The present paper results from years of participatory observation. From an anthropological perspective, the basic interest behind my research explores how humans, in certain times and places, behave when perceiving music, being exposed to, shaping and evaluating its parameters. In relation to experiences with songbirds the main questions are: what is biological, what is individually learned, what is a social consensus, and what is universal in human musical behaviour?