bluuebunny/crossref_metadata_2025_split huggingface dataset:
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Authors: Parenti Ilaria , Lehalle Daphné , Nava Caroline , Torti Erin , Leitão Elsa , Person Richard , Mizuguchi Takeshi , Matsumoto Naomichi , Kato Mitsuhiro , Nakamura Kazuyuki , de Man Stella A. , Cope Heidi , Shashi Vandana ,   Undiagnosed Diseases Network, Friedman Jennifer , Joset Pascal , Steindl Katharina , Rauch Anita , Muffels Irena , van Hasselt Peter M. , Petit Florence , Smol Thomas , Le Guyader Gwenaël , Bilan Frédéric , Sorlin Arthur , Vitobello Antonio , Philippe Christophe , van de Laar Ingrid M. B. H. , van Slegtenhorst Marjon A. , Campeau Philippe M. , Au Ping Yee Billie , Nakashima Mitsuko , Saitsu Hirotomo , Yamamoto Tatsuya , Nomura Yumiko , Louie Raymond J. , Lyons Michael J. , Dobson Amy , Plomp Astrid S. , Motazacker M. Mahdi , Kaiser Frank J. , Timberlake Andrew T. , Fuchs Sabine A. , Depienne Christel , Mignot Cyril 
Published: May 2021

AbstractLocated in the critical 1p36 microdeletion region, the chromodomain helicase DNA-binding protein 5 (CHD5) gene encodes a subunit of the nucleosome remodeling and deacetylation (NuRD) complex required for neuronal development. Pathogenic variants in six of nine chromodomain (CHD) genes cause autosomal dominant neurodevelopmental disorders, while CHD5-related disorders are still unknown. Thanks to GeneMatcher and international collaborations, we assembled a cohort of 16 unrelated individuals harboring heterozygous CHD5 variants, all identified by exome sequencing. Twelve patients had de novo CHD5 variants, including ten missense and two splice site variants. Three familial cases had nonsense or missense variants segregating with speech delay, learning disabilities, and/or craniosynostosis. One patient carried a frameshift variant of unknown inheritance due to unavailability of the father. The most common clinical features included language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%). Epilepsy types were variable, with West syndrome observed in three patients, generalized tonic–clonic seizures in two, and other subtypes observed in one individual each. Our findings suggest that, in line with other CHD-related disorders, heterozygous CHD5 variants are associated with a variable neurodevelopmental syndrome that includes intellectual disability with speech delay, epilepsy, and behavioral problems as main features.
Submerged Rootless Macrophytes Sustain a Stable State Against Free-Floating Plants
Authors: Szabó Sándor , Koleszár Gergő , Braun Mihály , Nagy Zoltán , Vicei Tibor T. , Peeters Edwin T. H. M. 
Published: May 2021

AbstractBoth non-rooted submerged vegetation dominated by coontail (Ceratophyllum demersum) and non-rooted floating duckweed vegetation (Lemna gibba) can maintain their stable dominance in small ponds and channels. We examined the competitive interactions between them and how Ceratophyllum can sustain its stable state against floating plants in a range of nutrient concentrations. Coontail and duckweed were co-cultured in static and semi-static microcosm experiments, and their impact on the nutrients (N, P, Fe, Mn) in the water column was analysed. Coontail strongly reduced the growth of duckweed under a low nitrogen level (0.2–2 mg N L−1). This reduction seems to be due to the low availability of nutrients in the water as derived from the lower nutrient concentrations in duckweed tissue or high pH in water. High nitrogen levels in semi-static media (5–10 mg N L−1) resulted in an increasingly higher chance to overgrow C. demersum by L. gibba. Field observations revealed that C. demersum dominated over L. gibba in water bodies with total N below 3 mg L−1, while L. gibba dominance over C. demersum occurred above 5 mg L−1 total N. Ceratophyllum occurrence correlated negatively with total N in the water, while Lemna showed a positive correlation. Furthermore, the occurrence of L. gibba was negatively correlated with the frequency of C. demersum. All findings together support the theory that under a certain nutrient range, rootless submerged macrophytes have a strong potential to inhibit the dominance of floating plants in ponds, ditches and channels, and thus, they stabilize the submerged vegetation state.
Pilot-scale development of pressurized fixed-bed gasification for synthesis gas production from biomass residues
Authors: Kurkela Esa , Kurkela Minna , Hiltunen Ilkka 
Published: May 2021

AbstractAdvanced transportation biofuels have been the focus of intensive development since the early 2000s, and gasification in combination with synthesis technologies represents a flexible production pathway to deliver fuels for heavy-duty transport sectors that are difficult to electrify. This article is related to the pilot-scale development of a process concept aiming to smaller-scale production plants than are feasible with fluidized-bed gasifiers. Five test weeks with a total gasification time of 347 h were realized at a pilot plant that consisted of the pressurized staged fixed-bed gasifier, raw gas cooling to 500–600 °C, filtration with robust metal filters, and catalytic reforming of tars and methane. The gasifier combined an updraft primary stage and a catalytically enhanced secondary stage where most of the updraft tars were decomposed. The tar content of the product gas, 2–12 g/m3, was of the same order of magnitude as determined previously for fluidized-bed gasifiers. Consequently, similar filtration and reforming methods could be successfully applied. After the reformer, the contents of C2-hydrocarbon gases and high-molecular-weight tars were negligible.
Die Sichtweise von Schülerinnen und Schülern auf eine primärpräventive Maßnahme eines ehemaligen Rechtsextremen: Befunde einer Evaluationsstudie und Empfehlungen für Bildungsakteure
Authors: Gansewig Antje , Walsh Maria 
Published: May 2021

ZusammenfassungSchulische Veranstaltungen von und mit ehemaligen extrem Rechten finden in Deutschland mittlerweile seit zwei Jahrzehnten statt. Hiermit wird vorrangig die Zielsetzung verfolgt, Radikalisierung und Extremismus vorzubeugen. Das gelinge, so die Grundannahme, durch den biografischen Erfahrungshintergrund der Aussteiger/innen effektiver im Vergleich zu anderen Interventionen. Bemerkenswerterweise ist dieses spezifische Format der schulischen Präventions- und Bildungsarbeit bislang nur marginal wissenschaftlich untersucht worden. Bisher existierten kaum empirisch fundierte Erkenntnisse über die (nicht-)intendierten Effekte derartiger Maßnahmen auf die Schüler/innen sowie deren Sichtweise. Vor diesem Hintergrund erachteten die Autorinnen die Durchführung eines umfassenden Forschungsprojekts zum schulischen Einsatz von früheren Extremist/innen, bei dem das Hauptaugenmerk auf den Schüler/innen liegt, als Erfordernis. Neben einer Bestandserhebung zu entsprechenden Tätigkeiten wurde eine exemplarische primärpräventive Schulmaßnahme eines ehemaligen Rechtsextremen im Rahmen einer Wirkungs- und Prozessevaluation mit randomisiertem Kontrollgruppendesign an 13 öffentlichen Gemeinschaftsschulen in 50 Klassen untersucht. Der vorliegende Beitrag stellt relevante Teilergebnisse dieser Evaluationsstudie vor und diskutiert sie. Im Fokus stehen hierbei die schriftlichen Schüler/innenbefragungen der Prozessevaluation zur Intervention und zum Referenten. Die Ergebnisse der direkt nach der Maßnahme (n = 490) und durchschnittlich fünfeinhalb Monate danach (n = 448) erhobenen Daten, weisen auf eine heterogene Schüler/innenperspektive und Besonderheiten hin. So wurden neben den mehrheitlichen Positivbewertungen – die sich insbesondere auf die Person des Aussteigers und weniger auf die Maßnahmeninhalte bezogen – auch kritische Aspekte identifiziert. Einige Schüler/innen fühlten sich etwa aufgrund detaillierter Gewaltdarlegungen unwohl. Zudem wurden mitunter Geschlechterspezifika festgestellt. Resümierend verdeutlichen die Evaluationsresultate einen grundsätzlichen Modifizierungs- und Forschungsbedarf der Anwendungspraxis. Abschließend führen die Autorinnen Empfehlungen für Bildungsakteure und perspektivische Überlegungen an.
Der Subjektstatus des Schülers/der Schülerin
Authors: Rucker Thomas , Anhalt Elmar , Ammann Kira 
Published: May 2021

ZusammenfassungEine Bildungsforschung, die beansprucht, Schüler/innen als Subjekte aufzufassen, setzt notwendigerweise einen Begriff von deren Subjektstatus voraus. In diesem Beitrag wird diese Voraussetzung thematisiert sowie aus pädagogischer Warte ein Vorschlag entwickelt, der deutlich macht, was es bedeuten könnte, einer Schülerin und einem Schüler einen Subjektstatus zuzusprechen sowie schulische Erziehung von ihm her zu beschreiben und zu begründen. Zunächst wird gezeigt, dass es heute keinesfalls als selbstverständlich angesehen werden kann, Schüler/innen einen Subjektstatus zuzusprechen. Es wird argumentiert, dass der Begriff der Bildsamkeit eine aussichtsreiche Möglichkeit bietet, schulische Erziehung von einem Subjektstatus des Schülers/der Schülerin her zu begreifen. Danach wird erläutert, wie eine entsprechende Erziehung theoretisch konzipiert werden kann. Die Theorie fasst drei Grundformen von Erziehung zusammen und erklärt, wie der Anspruch, Schüler/innen als Subjekte zu adressieren, im Kontext von Regierung, Unterricht und Beratung auf jeweils unterschiedliche Art und Weise Gestalt gewinnt. Abschließend wird mithilfe dieser Theorie die im Fach zu wenig beachtete rechtliche Dimension von Erziehung in den Fokus gerückt und gezeigt, dass deren Klärung gerade unter Berücksichtigung aktueller Kinderrechtsdebatten unverzichtbar ist.
Sexual Health Studies in Gay and Lesbian People: A Critical Review of the Literature
Authors: Mijas Magdalena , Grabski Bartosz , Blukacz Mateusz , Davies Dominic 
Published: May 2021

ABSTRACTBackgroundThe subject of gay and lesbian sexual health seems to be highly understudied, at least partially due to general limitations inherent in the studies of sexuality as well as heteronormative bias and difficulties in reaching out to these populations.AimTo critically review the studies on gay and lesbian sexual health in order to identify the existing gaps and biases in the scope and general construction of the published research.MethodsThe dataset comprised 556 peer-reviewed articles identified through Medline search. Key studies characteristics were extracted according to the codebook developed for this study and analyzed descriptively.OutcomesThe outcomes included: research methodology, study design, sampling, research topic and diversity inclusion in studied populations.RESULTSThe majority of the studies were quantitative (70.5%), cross-sectional (83.6%) and used convenience sampling (83.2%). Most papers focused on HIV/STI risk behaviors, vulnerabilities and risk navigation (26.3%). The least often found topic captured the sexual function of gay and lesbian participants in older age (0.5%). Over 68% of papers relied on male samples and studies on female-only samples comprised less than 13%. Most studies did not recruit a specific age group (77.7%) and included information about ethnicity of study participants (62%). Information about education (58.7%) or other indicators of socioeconomic status (52.8%) was less often reported.Clinical TranslationThe methodological limitations of prevailing study designs, sampling procedures and the composition of samples, as well as extensive areas of omission confine the clinical utility of existing research.Strengths & LimitationsThis study offers critical insights into the most significant challenges associated with studies on gay and lesbian sexual health. Medline-only database search, the inclusion of English-written papers exclusively and limited scope (gay and lesbian sexuality only) of the review constitute the most significant limitations.CONCLUSIONSGay and lesbian sexual health is an understudied field characterized by primary focus on HIV/STI and paucity of higher quality research including diverse subpopulations.
A fused mixed-methods approach to thematic analysis of personal networks: Two case studies of caregiver support networks
Authors: Yousefi Nooraie Reza , Thompson Bronwyn , D’Silva Chelsea , Zenlea Ian , Tabatabaee Maryam , Mohammad Aghaei Ardavan 
Published: May 2021

AbstractThematic analysis of personal networks involves identifying regularities in network structure and content, and grouping networks into types/clusters, to allow for a holistic understanding of social complexities. We propose an inductive approach to network thematic analysis, applying the learnings from qualitative coding, fused mixed-methods analysis, and typology development. It involves framing (changing focus by magnifying, aggregating, and graphical configuration), pattern detection (identification of underlying dimensions, sorting, and clustering), labeling, and triangulating (confirmation and fine-tuning using quantitative and qualitative approaches); applied repeatedly and emergently. We describe this approach utilized in two cases of studying support networks of caregivers.
The Taxation of Families: How Gendered (De)Familialization Tax Policies Modify Horizontal Income Inequality
Authors: SCHECHTL MANUEL 
Published: May 2021

AbstractA welfare state’s tax system does not solely redistribute from rich to poor (vertical) but also between family types (horizontal). Different types of families are treated differently due to gendered (de)familialization policies in the tax code, such as joint filing for spouses or single-parent relief. In this study I aim to examine the tax system’s modification of horizontal income inequality between the six most prevalent family types of non-retiree households. To answer my research aim I draw on harmonized data from 30 countries provided by the Luxembourg Income Study (LIS). I estimate pre- and post-fiscal income inequality measured as between-family-type Theil indices. Using multivariate linear regression, I examine the association of the percentage change in inequality and the prevalence of family type-related tax characteristics. The results show that welfare states with familialization tax policies reduce less horizontal income inequality compared to welfare states without familialization tax policies. As familialization tax policies provide additional benefits for breadwinners with dependents, they discourage labour market participation of secondary earners and might exacerbate gender inequalities.
Analysis and multi-objective optimal design of a planar differentially driven cable parallel robot
Authors: Wang Ruobing , Li Yangmin 
Published: May 2021

AbstractIn this work, a planar cable parallel robot (CPR) driven by four cable-and-pulley differentials is proposed and analyzed. A new cable-and-pulley differential is designed by adding an extra pulley to eliminate the modeling inaccuracies due to the pulley radius and obviate the need of solving the complex model which considers the pulley kinematics. The design parameters of the proposed CPR are determined through multi-objective optimal design for the largest total orientation wrench closure workspace (TOWCW) and the highest global stiffness magnitude index. The proposed differentially driven CPR is evaluated by comparing various performance indices with a fully actuated CPR.
A DEFENSE OF MILL’S ARGUMENT FOR THE “PRACTICAL INSEPARABILITY” OF THE LIBERTIES OF CONSCIENCE (AND THE ABSOLUTISM IT ENTAILS)
Authors: Jacobson Daniel 
Published: May 2021

AbstractMill advocated an unqualified defense of the liberty of conscience in the most comprehensive sense, which he understood to include not just the freedom to hold but also to express any opinion or sentiment. Yet considerable dispute persists about the nature of Mill’s argument for freedom of expression and whether his premises can support so strong a conclusion. Two prominent interpretations of Mill that threaten to undermine his uncompromising defense of free speech are considered and refuted. A better interpretation can be founded on Mill’s claim that the liberties of conscience are inseparable in practice. This claim can be defended with modern psychological insight about the nature of cognitive bias, and epistemological insight about why justification of creedal beliefs requires the universal toleration of opinion, insights which are largely anticipated by Mill. This argument is especially vital because it highlights the divide between classical liberalism and progressivism that has become a flashpoint in the current political debate over free speech.
FREE SPEECH, PRIVACY, AND AUTONOMY
Authors: Moore Adam D. 
Published: May 2021

Abstract
While autonomy arguments provide a compelling foundation for free speech, they also support individual privacy rights. Considering how speech and privacy may be justified, I will argue that the speech necessary for self-government does not need to include details that would violate privacy rights. Additionally, I will argue that if viewed as a kind of intangible property right, informational privacy should limit speech and expression in a range of cases. In a world where we have an overabundance of content to consume, much of which could be called “information pollution,” and where there are numerous platforms to broadcast one’s expressions, it is increasingly difficult to maintain that speech should trump privacy.
HARMS OF SILENCE: FROM PIERRE BAYLE TO DE-PLATFORMING
Authors: Cohen Andrew Jason 
Published: May 2021

Abstract
Early in the history of liberalism, its most important proponents were concerned with freedom of religion. As polities and individuals now accept a dizzying array of religions, this has receded to the background for most theorists. It nonetheless remains a concern. Freedom of speech is a similar concern and very much in the foreground for theorists looking at the current state of academia. In this essay, I argue that inappropriate limits to freedom of religion and inappropriate limits to freedom of speech—especially in the form of de-platforming on college campuses—both have, as one of their effects, what I call harms of silence. This means we ought not have those limits, so should seek to change them where they exist.
Postlaunch evidence-generation studies for medical devices in Spain: the RedETS approach to integrate real-world evidence into decision making
Authors: Serrano-Aguilar Pedro , Gutierrez-Ibarluzea Iñaki , Díaz Pilar , Imaz-Iglesia Iñaki , González-Enríquez Jesús , Castro José Luis , Espallargues Mireia , García-Armesto Sandra , Arriola-Bolado Paloma , Rivero-Santana Amado , Perestelo-Pérez Lilisbeth , González-Pacheco Himar , Álvarez-Pérez Yolanda , Faraldo-Vallés María José , Puñal-Riobóo Janet , Ramallo-Fariña Yolanda , Sánchez-Gómez Luis María , Asua-Batarrita José , Reviriego-Rodrigo Eva , Moreno-Rodríguez Anai , Juárez-Rojo Celia , Vicente-Saiz Marisa , Orejas-Pérez Eugenia , Knabe-Guerra Jutta , Prieto-Yerro Isabel , González del Yerro-Valdés Cristina 
Published: May 2021

Abstract
The Monitoring Studies (MS) program, the approach developed by RedETS to generate postlaunch real-world evidence (RWE), is intended to complement and enhance the conventional health technology assessment process to support health policy decision making in Spain, besides informing other interested stakeholders, including clinicians and patients. The MS program is focused on specific uncertainties about the real effect, safety, costs, and routine use of new and insufficiently assessed relevant medical devices carefully selected to ensure the value of the additional research needed, by means of structured, controlled, participative, and transparent procedures. However, despite a clear political commitment and economic support from national and regional health authorities, several difficulties were identified along the development and implementation of the first wave of MS, delaying its execution and final reporting. Resolution of these difficulties at the regional and national levels and a greater collaborative impulse in the European Union, given the availability of an appropriate methodological framework already provided by EUnetHTA, might provide a faster and more efficient comparative RWE of improved quality and reliability at the national and international levels.
Seafarers’ awareness-based domain modelling in restricted areas
Authors: Lee Hee-Jin , Furukawa Yoshitaka , Park Deuk-Jin 
Published: May 2021

AbstractApplying the existing domain model in ship domain research in a restricted area can be difficult owing to multiple factors that must be considered. This study presents a new domain model that can be applied in such environments. According to Endsley's theory of situation awareness, people have their own criteria in decision making based on factors such as individual and environmental factors. To investigate these factors, 125 seafarers were interviewed and threshold values based on their awareness were examined. The factors were evaluated as the closest points of approach. Domain modelling was performed based on these seafarer awareness values; then, the existing and awareness domains were compared, revealing that the awareness-based domain of seafarers is more affected by ship manoeuvrability than by ship size and speed, unlike the findings of existing domain research. Therefore, this study presents a new domain model that is both realistic and practical in a confined area, including various factors considered by seafarers based on the awareness values formed.
Effects of prolonged interruption of rehabilitation routines in amyotrophic lateral sclerosis patients
Authors: Gonçalves Filipe , Magalhães Bruno 
Published: May 2021

AbstractObjectivePatients with amyotrophic lateral sclerosis (ALS) experienced prolonged interruption of their rehabilitation palliative care routines due to restrictive COVID-19 pandemic public health measures. This study assesses the effects of before and after the lockdown on functionality rates and quality of life (QoL) in patients with ALS.MethodsA longitudinal observational study was conducted. Participants were assessed three times — early January (T0), before mandatory lockdown (T1), and during lockdown (T2) — using the ALS Functional Rating Scale-revised (ALSFRS-R), Fatigue Severity Scale (FSS), and the ALS-Specific Quality of Life-Short Form (ALSSQOL-SF). The paired-sample t-test and Wilcoxon signed-rank test were used.ResultsThirty-two patients were included with a mean age of 56.9 (SD 14.2) years and mean symptoms onset of 27.1 (SD 14.3) months. ALSFRS-R mean scores decayed significantly over time when comparing T0–T1 (0.26 ± 0.38) and T1–T2 (1.36 ± 1.43) slopes (p < 0.001). Significant differences were observed between T1 and T2 for ALSSQOL-SF scores (115.31 ± 17.06 vs. 104.31 ± 20.65), especially in four specific domains, and FSS scores (34.06 ± 16.84 vs. 40.09 ± 17.63). Negative correlations between negative emotions and physical symptoms assessed by ALSSQOL-SF and FSS were found.Significance of the resultsRehabilitation treatment routines in palliative care, such as physiotherapy and speech therapy, appear to mitigate the ALSFRS-R slope. Prolonged interruption of rehabilitation during the lockdown may have accelerated the functional decline in ALS patients’ motor skills with as measured after 2 months by the ALSFRS-R in the limb and bulbar subscores, but not respiratory subscore. Other short-term effects, increased fatigue and negative impact on QoL, were also verified.