bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity
Authors: Moresco Giada , Rondinone Ornella , Mauri Alessia , Gorgoglione Rita , Graziani Daniela Maria Grazia , Dziuback Michal , Miozzo Monica Rosa , Sirchia Silvia Maria , Pietrogrande Luca , Peron Angela , Fontana Laura 
Published: October 2024

Abstract

Background
Congenital anomalies of the knee are a spectrum of rare disorders with wide clinical and genetic variability, which are mainly due to the complex processes underlying knee development. Despite progresses in understanding pathomechanisms and associated genes, many patients remain undiagnosed.

Objective
To uncover the genetic bases of a congenital patellar dislocation affecting multiple family members with variable severity.

Methods
We performed ES in the proband and his father, both showing bilateral patellar dislocation, his sister with a milder similar condition, and his unaffected mother. Sanger sequencing was then performed in the proband’s brother and paternal aunt, both affected as well.

Results
ES and Sanger sequencing identified the presence of the novel heterozygous frameshift mutation c.735delT in the TBX4 gene in all affected family members. TBX4 is associated with autosomal dominant ischio-coxo-podo-patellar syndrome with/without pulmonary arterial hypertension (ICPPS, #147891), reaching a diagnosis in the family. Intrafamilial clinical heterogeneity suggests that other factors might be involved, such as additional variants in TBX4 or in other modifier genes. Interestingly, we identified three additional variants in the TBX4 gene in the proband only, whose phenotype is more severe. Despite being classified as benign, one of these variants is predicted to disrupt a splicing protein binding site, and may therefore affect TBX4 alternative splicing, accounting for the more severe phenotype of the proband.

Conclusion
We expand and further delineate the genotypic and phenotypic spectrum of ICPPS. Further studies are necessary to shed light on the potential effect of this variant and on the variable phenotypic expressivity of TBX4-related phenotypes.
Qualitätsindikatoren zur Förderung von Krisenresilienz in primärärztlichen Praxen im Projekt RESILARE
Authors: Litke Nicola , Poß-Doering Regina , Weis Aline , Koetsenruijter Jan , Köppen Martina , Kümmel Stephanie , Broge Björn , Wensing Michel , Szecsenyi Joachim 
Published: October 2024

ZusammenfassungKrisen, wie die COVID-19-Pandemie und der Klimawandel, stellen große Herausforderungen für die gesundheitliche Versorgung dar. Ärztliche Praxen sind zentral in der Versorgung von vulnerablen Personengruppen und sollten daher optimal auf aktuelle und zukünftige Krisen vorbereitet sein. Durch die Entwicklung von Qualitätsindikatoren im Rahmen des Projekts RESILARE sollen die Resilienz von ärztlichen Praxen gefördert und Potenziale der Vorbereitung und Reaktion auf potenzielle Krisen aufgezeigt werden. Im Rahmen eines etablierten 2‑stufigen Panelverfahrens wurden insgesamt 32 Qualitätsindikatoren entwickelt, die sich in die 4 Handlungsfelder a: individuelle Resilienz, b: Krisenprävention, c: Praxisorganisation und d: Klimaresilienz gliedern lassen. Die Indikatoren wurden in 34 allgemeinmedizinischen Praxen pilotiert und evaluiert. Dabei zeigte sich das größte Verbesserungspotenzial der Praxen in den Handlungsfeldern Krisenprävention und Klimaresilienz. Insgesamt sahen die pilotierenden Praxen eine hohe Relevanz der Indikatoren und ihrer Themenfelder für die primärärztliche Versorgung und wurden durch sie zu einer Vielzahl an Maßnahmen angeregt. Die entwickelten Qualitätsindikatoren zeigten sich somit als geeignet zur Förderung der Krisenresilienz in ärztlichen Praxen. Weiterhin bringen sie großes Verwertungspotenzial mit sich, auch außerhalb von allgemeinmedizinischen Praxen.
Spatiotemporal distribution of sedimentary chloropigments and organic carbon in a shelf sea ecosystem, with a focus on the cold water mass
Authors: Zhou Hong , Zeng Ruiwen , Cong Bingqing , Jiang Qianqian , Zhang Zhinan 
Published: October 2024

AbstractThe Yellow Sea is one of the most thoroughly studied shelf seas in the northwestern Pacific. However, many aspects of the northern Yellow Sea sediments remain poorly understood. Sedimentary chloropigments and total organic carbon (TOC) are crucial components that indicate benthic primary productivity and ecosystem functioning in the marginal sea system. The present study investigated the temporal and spatial variations of sediment chloroplastic pigments (Chl-a and Pha-a) and TOC contents in relation to seasons and the northern Yellow Sea Cold Water Mass (NYSCWM). Decadal trends were also examined using linear regression on time-series data from 12 cruises conducted over a nine-year period (2006–2014). The correlations between sedimentary Chorophy-a (Chl-a), Pheophorbide-a (Pha-a), TOC, and their ratios with other abiotic and biotic factors were analyzed to detect any effects of the NYSCWM on the spatiotemporal distribution of sediment Chl-a, Pha-a, TOC contents, as well as the ecological relevance of their ratios as indicators of food quality (freshness) in the benthic system. The NYSCWM substantially influences the spatial and seasonal distribution of sedimentary Chl-a, Pha-a, and TOC contents. High values of Pha-a, TOC, and the ratios of Pha-a/(Chl-a + Pha-a) and TOC/Chl-a were often observed in the central region of the NYSCWM, where Chl-a showed clear seasonal fluctuations while Pha-a and TOC remained relatively constant. While sedimentary TOC appears to negatively mirror the spatial pattern of primary productivity in the water column, the spatial pattern of sedimentary Chl-a in relation to NYSCWM is less evident. However, the contents of Pha-a and TOC in the central NYSCWM sediments were higher than those at surrounding NYSCWM stations. Surface sediment Pha-a/(Chl-a + Pha-a) ratio was negatively correlated with meiofauna abundance and biomass and positively correlated with nematode/copepod ratio. This finding indicates that the quality of sediment organic matter is important to meiofauna. Conversely, the lower organic degradation rate at the lower bottom temperature of the NYSCWM may explain the observed higher Pha-a and TOC contents in its central area. Time-series data collected over nine years at the NYSCWM stations showed a decreasing trend for Chl-a, while TOC and the ratio of Pha-a/(Chl-a + Pha-a) exhibited increasing tendencies. This trend may imply a reduced quality of food supply to the benthic food web in the shelf sea system, along with degraded ecosystem functioning and service under the impacts of global change and anthropogenic disturbances.
Escalating Health Crisis: Dissecting Mortality Causes and Trends Among Indigenous Populations in Northeast Brazil
Authors: Martins-Filho Paulo Ricardo , Cavalcante Taise Ferreira , Lima Shirley Verônica Melo Almeida , Santiago Bianca Marques , Machado Carlos Eduardo Palhares , Cunha Eugénia 
Published: October 2024

Abstract

Objectives
In Northeast Brazil, the poorest region of the country, indigenous communities face critical health care challenges. Despite legal entitlements to the Unified Health System (SUS), systemic barriers persist, exacerbating health disparities and mortality. This ecological study analyzed mortality trends and causes of death within the Special Indigenous Sanitary District (DSEI) Alagoas-Sergipe over a decade.

Methods
Data on deaths from 2012 to 2022 were obtained from the Indigenous Health Secretariat. Causes of death were classified into 13 categories. Mortality rates per 1,000 indigenous inhabitants were calculated, and trends were analyzed using the Mann-Kendall test. The study also compared causes of death by age group.

Results
Mortality rates ranged from 3.3 to 5.2 per 1,000, showing a moderate upward trend over time (τ = 0.5, p = 0.042). Predominant causes included heart and vascular disorders (24.3%), external causes (12.4%), respiratory issues (11.1%), and infections (10.9%). About one-third of pediatric deaths were associated with general neonatal complications.

Conclusions
This study highlights increasing mortality in indigenous communities in Northeast Brazil. The predominant causes of death reflect broader public health concerns. These trends emphasize the urgency for more effective, culturally sensitive public health policies and improved health care access.
Effect of Virtual-Reality-Based Training on Emotions of Medical Students Undertaking Radiation Emergency Medicine: An Educational Experimental Study
Authors: Nomura Osamu , Soma Yuki , Ikezaki Yusuke , Tazoe Hirofumi , Osanai Minoru , Hosokawa Shota , Tsujiguchi Takakiyo , Ito Katsuhiro , Hanada Hiroyuki , Tomisawa Toshiko 
Published: October 2024

Abstract

Objective
Integration of head-mounted virtual reality (VR) devices has been revolutionary in health professions education. In disaster preparedness training, VR simulation-based learning exposes health care professionals to the unique challenges of diverse scenarios, enhancing their adaptability. The aim of the study was to evaluate the effectiveness of a head-mounted VR tool for teaching basic radiation emergency medicine skills to medical students.

Methods
The participants were 64 medical students (5th-year) who underwent a 3-hour training session in radiation emergency medicine that was conducted via head-mounted VR devices. Students scored their perceived emotion, performance, and self-efficacy at various time points in a self-reported online questionnaire.

Results
Comparison of survey responses before and after the session showed significant differences in terms of neutral emotion (P = 0.011), negative activating emotions (P < 0.001), and negative deactivating emotions (P = 0.004). The post-hoc test revealed statistically significant differences in negative activating emotions between before and during (P < 0.05), and between before and after (P < 0.05) the VR simulation. In addition, negative deactivation and neutral emotions changed significantly after the simulation.

Conclusions
The use of head-mounted VR devices was effective in modulating medical students’ emotions and contributed to improving their perceived performance in radiation emergency medicine.
Illustrating the Anticipate, Recruit, Retain, Adapt, Sustain (ARRAS) Framework for Surge Capacity. How Bangladesh, Sri Lanka, and Nepal Maintained Their Health Workforce During COVID-19
Authors: Yoo Katelyn J. , Mannan Masuma , Weerasinghe Inoka , Borse Nagesh N. , Bishai David 
Published: October 2024

Abstract
Surge capacity—the ability to acquire additional workers and resources during unexpected increases in service demand—is often perceived as a luxury. However, the COVID-19 pandemic necessitated an urgent expansion of surge capacity within health systems globally. Health systems in Bangladesh, Nepal, and Sri Lanka managed to scale up their capacities despite severely limited budgets. This study employs a mixed-methods approach, integrating qualitative interviews with quantitative data analysis, to propose a comprehensive framework for understanding Human Resources for Health (HRH) surge capacity from 2018 to 2021, termed ARRAS: Anticipate, Recruit, Retain, Adapt, Sustain. We present national-level data to demonstrate how each country was able to maintain their per capita health care workforce during the crisis. Interviews with key informants from each country reinforce the ARRAS framework. Quantitative data revealed ongoing increases in doctors and nurses pre- and post-pandemic, but no country could rapidly expand its health workforce during the crisis. Qualitative findings highlighted critical strategies such as pre-crisis planning, financial incentives, telemedicine, and re-skilling the workforce. Despite adaptive measures, challenges included inadequate funding, poor data systems, and coordination issues. This study underscores the necessity for robust, long-term strategies to enhance surge capacity and better prepare health systems for future crises.
Coping with Unknown Health Crisis via Social Media: A Content Analysis of Online Mutual Aid Group in the Beginning of the COVID-19 Pandemic
Authors: Guo Yu , Xiang Hongzhe , Hou Yongkang 
Published: October 2024

Abstract

Objective
The initial emergence of SARS-CoV-2 created uncertainty for humanity, driving people to seek assistance on social media. This study aims to understand the role of social media in coping with crises and to offer guidance for future uncertainties by examining the experiences of Wuhan during the early stages of the pandemic.

Methods
Using quantitative content analysis, this study investigated 2207 Weibo posts tagged with “COVID-19 Mutual Aid” from individuals located in Wuhan during the early lockdown period from January 23, 2020, to March 23, 2020.

Results
At the start of pandemic, messages seeking tangible support were most common. A hurdle regression model showed that deeper self-disclosure led to more retransmission of help-seeking messages. The Chi-Square and Mann-Whitney U tests revealed that health professionals and laypeople had different self-disclosure strategies.

Conclusions
This study provides insight into the online social support exchange during the early stages of the COVID-19 pandemic in Wuhan, highlighting the importance of self-disclosure on message retransmission, and the differences in self-disclosure strategies between health professionals and laypeople in online help-seeking.
Stability conditions for line bundles on nodal curves
Authors: Pagani Nicola , Tommasi Orsola 
Published: October 2024

Abstract
We introduce the abstract notion of a smoothable fine compactified Jacobian of a nodal curve, and of a family of nodal curves whose general element is smooth. Then we introduce the combinatorial notion of a stability assignment for line bundles and their degenerations.
We prove that smoothable fine compactified Jacobians are in bijection with these stability assignments.
We then turn our attention to fine compactified universal Jacobians – that is, fine compactified Jacobians for the moduli space

$\overline {\mathcal {M}}_g$

of stable curves (without marked points). We prove that every fine compactified universal Jacobian is isomorphic to the one first constructed by Caporaso, Pandharipande and Simpson in the nineties. In particular, without marked points, there exists no fine compactified universal Jacobian unless

$\gcd (d+1-g, 2g-2)=1$

.
Defining Evil from the Hebrew Text of Genesis
Authors: Faro Ingrid 
Published: October 2024

AbstractAn overview of findings from an in-depth inductive study of ‘the lexical, exegetical, conceptual, and theological study of evil from the Hebrew text of Genesis’ provides key insights into the broad use of the primary lexeme(s) for evil (ra as an adjective, raa as a verb, and raah as a noun). The use of evil is followed sequentially through each occurrence in Genesis to assess its meaning and concept contextually. The plot conflict of good and evil is observed from the beginning to its bookend. Evil is never called good nor found to be the absence of good, but rather, the corruption of creational and covenantal goodness. God is found to work in and through flawed and dysfunctional humans to overturn evil and accomplish his good creational and covenantal purposes.
Anxiolytic-like effects of acute serotonin-releasing agents in zebrafish models of anxiety: experimental study and systematic review
Authors: Näslund Jakob , Landin Jenny , Hieronymus Fredrik , Banote Rakesh Kumar , Kettunen Petronella 
Published: October 2024

Abstract
Though commonly used to model affective disorders, zebrafish display notable differences in terms of the structure and function of the brain serotonin system, including responses to pharmacological interventions, as compared to mammals. For example, elevation of brain serotonin following acute administration of serotonin reuptake inhibitors (SRIs) generally has anxiogenic effects, both in the clinical situation and in rodent models of anxiety, but previous research has indicated the opposite in zebrafish. However, several issues remain unresolved. We conducted a systematic review of SRI effects in zebrafish models of anxiety and, on the basis of these results, performed a series of experiments further investigating the influence of serotonin-releasing agents on anxiety-like behaviour in zebrafish, with sex-segregated wild-type animals being administered either escitalopram, or the serotonin releaser fenfluramine, in the light-dark test. In the systematic review, we find that the available literature indicates an anxiolytic-like effect of SRIs in the novel-tank diving test. Regarding the light-dark test, most studies reported no behavioural effects of SRIs, although the few that did generally saw anxiolytic-like responses. In the experimental studies, consistent anxiolytic-like effects were observed with neither sex nor habituation influencing treatment response. We find that the general effect of acute SRI administration in zebrafish indeed appears to be anxiolytic-like, indicating, at least partly, differences in the functioning of the serotonin system as compared to mammals and that caution is advised when using zebrafish to model affective disorders.
EXTENDING TORSORS UNDER QUASI-FINITE FLAT GROUP SCHEMES
Authors: MEHIDI SARA 
Published: October 2024

Abstract
Let R be a discrete valuation ring of field of fractions K and of residue field k of characteristic

$p> 0$

. In an earlier work, we studied the question of extending torsors over K-curves into torsors over R-regular models of the curves in the case when the structural K-group scheme of the torsor admits a finite flat model over R. In this paper, we first give a simpler description of the problem in the case where the curve is semistable using recent work in Holmes, Molcho, Orecchia, and Poiret (2023, Journal für die Reine und Angewandte Mathematik [Crelle’s Journal] 230, 115–159) and Molcho and Wise (2022, Compositio Mathematica 158, 1477–1562). Second, if R is assumed to be Henselian and Japanese, we solve the problem of extending torsors by combining our previous work together with results in Antei and Emsalem (2018, Nagoya Mathematical Journal 230, 18–34) and Phung and Dos Santos (2023, Algebraic Geometry 230, 1–40), including the case where the structural group does not admit a finite flat R-model.
Maximal cliques in scale-free random graphs
Authors: Bläsius Thomas , Katzmann Maximillian , Stegehuis Clara 
Published: October 2024

AbstractWe investigate the number of maximal cliques, that is, cliques that are not contained in any larger clique, in three network models: Erdős–Rényi random graphs, inhomogeneous random graphs (IRGs) (also called Chung–Lu graphs), and geometric inhomogeneous random graphs (GIRGs). For sparse and not-too-dense Erdős–Rényi graphs, we give linear and polynomial upper bounds on the number of maximal cliques. For the dense regime, we give super-polynomial and even exponential lower bounds. Although (G)IRGs are sparse, we give super-polynomial lower bounds for these models. This comes from the fact that these graphs have a power-law degree distribution, which leads to a dense subgraph in which we find many maximal cliques. These lower bounds seem to contradict previous empirical evidence that (G)IRGs have only few maximal cliques. We resolve this contradiction by providing experiments indicating that, even for large networks, the linear lower-order terms dominate, before the super-polynomial asymptotic behavior kicks in only for networks of extreme size.
Type 2 diabetes prevention: genetic association analysis of dried fruit intake and disease risk
Authors: Gong Liya , Wu Ziqi , Gao Liaoming , Wen Junyan , Lin Xuecong , Wen Ge 
Published: October 2024

AbstractPrior research has suggested an inverse correlation between dried fruit intake and type 2 diabetes mellitus (T2DM), yet the causal link remains uncertain. This study seeks to investigate the potential causal impact of dried fruit intake on T2DM, covering cases both with and without various complications, as well as glycaemic traits, using a two-sample Mendelian randomisation (MR) approach. Using MR analysis with genome-wide association study summary statistics, the primary analysis investigated the causal relationship between dried fruit intake and T2DM, both with and without complications, as well as glycaemic traits, employing the inverse variance weighted method. Supplementary analyses were conducted using MR-Egger and the weighted median method. Heterogeneity and intercept tests were utilised to evaluate the robustness of the study outcomes. The results show a significant association between dried fruit intake and T2DM without complications, as well as fasting insulin. Sensitivity analyses confirmed the robustness of the results and the independence from multicollinearity. However, no association was found between dried fruit intake and T2DM with various complications or other glycaemic traits. The significant association between dried fruit intake and T2DM without complications and fasting insulin persisted even after adjusting for BMI. This study offers genetic evidence endorsing the protective effects of dried fruit intake against T2DM, specifically for cases without complications, and in regulating fasting insulin. These findings suggest that dried fruit intake might serve as a primary preventive strategy for T2DM.
The Laws of War and Public Support for Foreign Combatants
Authors: Lupu Yonatan , Wallace Geoffrey P.R. 
Published: October 2024

AbstractAre publics in great power democracies more likely to approve of foreign armed combatants that comply with international humanitarian law (IHL)? There is a wealth of evidence that armed combatants with an incentive to seek the support of outside compliance constituencies are more likely to adhere to IHL. Yet a key mechanism underlying these claims—that people in great power democracies are more likely to support armed combatants that comply with IHL—has not been directly tested. We address this question using a series of experiments embedded in nationally representative surveys conducted in three democracies that have frequently been involved in foreign interventions: France, the United Kingdom, and the United States. We find that belligerents—both governments and rebels—that comply with the laws of war are significantly more likely to garner support from publics in likely intervening countries compared to those who do not comply. In all three countries, compliance with international law caused greater approval of armed combatants as well as greater support for economic or military intervention (although support for military intervention remained relatively low in the treatment groups). This lends support to arguments that, to the extent combatants seek support from outside audiences, this can serve as a mechanism by which international law constrains armed combat.