bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neuroplasticity in Parkinson’s disease
Authors: Popescu Bogdan Ovidiu , Batzu Lucia , Ruiz Pedro J. Garcia , Tulbă Delia , Moro Elena , Santens Patrick 
Published: August 2024

AbstractParkinson’s disease (PD) is the second most frequent neurodegenerative disorder, affecting millions of people and rapidly increasing over the last decades. Even though there is no intervention yet to stop the neurodegenerative pathology, many efficient treatment methods are available, including for patients with advanced PD. Neuroplasticity is a fundamental property of the human brain to adapt both to external changes and internal insults and pathological processes. In this paper we examine the current knowledge and concepts concerning changes at network level, cellular level and molecular level as parts of the neuroplastic response to protein aggregation pathology, synapse loss and neuronal loss in PD. We analyse the beneficial, compensatory effects, such as augmentation of nigral neurons efficacy, as well as negative, maladaptive effects, such as levodopa-induced dyskinesia. Effects of physical activity and different treatments on neuroplasticity are considered and the opportunity of biomarkers identification and use is discussed.
Cost-sensitive precomputation of real-time-aware reconfiguration strategies based on stochastic priced timed games
Authors: Göttmann Hendrik , Caesar Birte , Beers Lasse , Lochau Malte , Schürr Andy , Fay Alexander 
Published: August 2024

Abstract
In many recent application domains, software systems must repeatedly reconfigure themselves at runtime to satisfy changing contextual requirements. To decide which next configuration is presumably best suited is a very challenging task as it involves not only functional requirements but also non-functional properties (NFP). NFP include multiple, potentially contradicting, criteria like real-time constraints and cost measures like energy consumption. Effectiveness of context-aware reconfiguration decisions further depends on mostly uncertain future contexts which makes greedy one-step decision heuristics potentially misleading. Moreover, the computational runtime overhead for reconfiguration planning should not nullify the benefits. Nevertheless, entirely pre-planning reconfiguration decisions during design time is also not feasible due to missing knowledge about runtime contexts. In this article, we propose a model-based technique for precomputing context-aware reconfiguration decisions under partially uncertain real-time constraints and cost measures. We employ a game-theoretic approach based on stochastic priced timed game automata as reconfiguration model. This formal model allows us to automatically synthesize winning strategies for the first player (the system) which efficiently delivers presumably best-fitting reconfiguration decisions as reactions to moves of the second player (the context) at runtime. Our tool implementation copes with the high computational complexity of strategy synthesis by utilizing the statistical model checker Uppaal Stratego to approximate near-optimal solutions. We applied our tool to a real-world example consisting of a reconfigurable robot support system for the construction of aircraft fuselages. Our evaluation results show that Uppaal Stratego is indeed able to precompute effective reconfiguration strategies within a reasonable amount of time.
Recognising a kaleidoscopic archive: working with London Missionary Society records in the geekosphere’
Authors: Lee-Talbot Deborah 
Published: August 2024

AbstractThis article is an ultra-reflective account of an encounter with London Missionary Society (LMS) records through the Australian Joint Copying Project (AJCP) collections at the State Library of Victoria (SLV) and the home office as socially and materially informed research spaces. The genealogies of surrogate archives are little analysed, yet they have complex pasts worth investigating. As Jasmine Burns (JALSNA 33: 150–167, 2024), the librarian and metadata specialist explained, information about an archive’s ancestry is valuable as it illuminates the history and a pattern of use beyond the original author’s intent. The subsequent discussion shows how I inspect descriptive categories associated with the AJCP LMS microfilmed and digitised records in the custody of SLV, the London School of Oriental and African Studies (SOAS) and the National Library of Australia, (NLA) showing how meaning was layered onto these records. Extending on the social historian Arlette Farge’s analogy of the archive as a kaleidoscope, I demonstrate the introductory process by which a historian determines absences and presences in the archive and to what extent the initial imperial categories used by archivists and librarians informed my research practices. By analysing the history of the LMS AJCP collection, I demonstrate how these Australian-Pacific artefacts contain layers of knowledge about historical cultures and relationships. The different agendas and experiences of librarians, archivists, and historians—all curators of historical records –have revealed or obscured encounter narratives concerning European and indigenous men and women.
Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes
Authors: Laitman Yael , Niskakoski Anni , Bernstein-Molho Rinal , Koskinen Lotta , Rabina Daniel , Koskenvuo Juha , Friedman Eitan 
Published: August 2024

Abstract
Purpose
While cancer phenotypes in carriers of a single mutant allele in most major cancer susceptibility genes are well-established, there is a paucity of data on the phenotype of carriers of two pathogenic variants—double heterozygotes (DH) or homozygous carriers. Here, we describe the phenotype of carriers of homozygous and DH pathogenic sequence variants (PSVs) in major cancer susceptibility genes.

Methods
Individuals referred for multigene panel testing at Blueprint Genetics laboratory were included. Ethically approved comparison of cancer type and age at diagnosis between DH, homozygous, and single PSV carriers was performed per gene.

Results
Of 6,685 eligible participants, 928 (13.9%) were single heterozygous PSV carriers, 6 (0.09%) were homozygous PSV carriers, and 17 (0.25%) were DH PSV carriers. Mean age at diagnosis of any cancer among single PSV age was 46.8 ± 14.9 years and among DH PSV carriers 37.6 ± 13.0 years (P < 0.0001). Notably, age at diagnosis for breast cancer among single BRCA1 PSV carriers (n = 59) was 43.8 ± 8.7 years (p = 0.7606), among single BRCA2 PSV carriers (n = 52)—47.9 ± 13.0 years (p = 0.2274) compared with 42.3 ± 13.0 years among DH PSV carriers (n = 10- 9 of whom were carriers of either BRCA1 or BRCA2).

Conclusion
DH for PSV in two cancer susceptibility genes is a rare event, and the mean age at cancer diagnosis is younger in DH PSV carriers compared with single PSV carriers.
Effect of acute intravenous beta-blocker administration on myocardial blood flow during same-day hybrid CCTA/PET imaging
Authors: Gajic Marko , Galafton Andrei , Heiniger Pascal S. , Albertini Tobia , Jurisic Stjepan , Gebhard Catherine , Benz Dominik C. , Pazhenkottil Aju P. , Giannopoulos Andreas A. , Kaufmann Philipp A. , Buechel Ronny R. 
Published: August 2024

AbstractThis study aimed to evaluate the impact of acute intravenous beta-blocker administration on myocardial blood flow (MBF) during same-day hybrid coronary computed tomography angiography (CCTA) and 13N-ammonia positron emission tomography (PET) myocardial perfusion imaging (MPI). Previous research on the discontinuation of oral beta-blockers before MPI has shown mixed results, with no studies yet exploring the acute intravenous administration in the context of same-day hybrid imaging. This retrospective study included patients with suspected chronic coronary syndromes undergoing same-day hybrid CCTA/13N-ammonia PET MPI. Exclusion criteria comprised coronary artery stenosis ≥ 50% or regional perfusion abnormalities on PET, and baseline oral beta-blocker medication. Intravenous metoprolol (up to 30 mg) was administered as needed for heart rate control before CCTA. MBF measurements were obtained at rest (rMBF) and during stress (sMBF), and myocardial flow reserve (MFR) was calculated. After excluding 281 patients, 154 were eligible for propensity-score matching, resulting in 108 patients divided into two equal groups based on beta-blocker administration. The groups showed no significant differences in baseline characteristics. Among those who received beta-blockers, there was a significant decrease in sMBF (2.21 [IQR 1.72–2.78] versus 2.46 [2.08–2.99] ml∙min−1∙g−1, p = 0.027) and MFR (3.46 [2.70–4.05] versus 3.79 [3.22–4.46], p = 0.030), respectively, compared to those who did not receive beta-blockers. In contrast, rMBF remained unaffected (0.65 [0.54–0.78] versus 0.64 [0.55–0.76] ml∙min−1∙g−1, p = 0.931). Acute intravenous beta-blocker administration significantly impacts MBF, leading to a slight reduction in sMBF and MFR. In contrast, rMBF appears unaffected, suggesting that beta-blockers primarily affect the coronary capacity to respond to vasodilators.
Molecular and cellular mechanisms of chemoresistance in paediatric pre–B cell acute lymphoblastic leukaemia
Authors: Lill Caleb B. , Fitter Stephen , Zannettino Andrew C. W. , Vandyke Kate , Noll Jacqueline E. 
Published: August 2024

AbstractPaediatric patients with relapsed B cell acute lymphoblastic leukaemia (B-ALL) have poor prognosis, as relapse-causing clones are often refractory to common chemotherapeutics. While the molecular mechanisms leading to chemoresistance are varied, significant evidence suggests interactions between B-ALL blasts and cells within the bone marrow microenvironment modulate chemotherapy sensitivity. Importantly, bone marrow mesenchymal stem cells (BM-MSCs) and BM adipocytes are known to support B-ALL cells through multiple distinct molecular mechanisms. This review discusses the contribution of integrin-mediated B-ALL/BM-MSC signalling and asparagine supplementation in B-ALL chemoresistance. In addition, the role of adipocytes in sequestering anthracyclines and generating a BM niche favourable for B-ALL survival is explored. Furthermore, this review discusses the role of BM-MSCs and adipocytes in promoting a quiescent and chemoresistant B-ALL phenotype. Novel treatments which target these mechanisms are discussed herein, and are needed to improve dismal outcomes in patients with relapsed/refractory disease.
Causal inference of server- and client-side code smells in web apps evolution
Authors: Rio Américo , Abreu Fernando Brito e , Mendes Diana 
Published: August 2024

Abstract
Context
Code smells (CS) are symptoms of poor design and implementation choices that may lead to increased defect incidence, decreased code comprehension, and longer times to release. Web applications and systems are seldom studied, probably due to the heterogeneity of platforms (server and client-side) and languages, and to study web code smells, we need to consider CS covering that diversity. Furthermore, the literature provides little evidence for the claim that CS are a symptom of poor design, leading to future problems in web apps.

Objective
To study the quantitative evolution and inner relationship of CS in web apps on the server- and client-sides, and their impact on maintainability and app time-to-release (TTR).

Method
We collected and analyzed 18 server-side, and 12 client-side code smells, aka web smells, from consecutive official releases of 12 PHP typical web apps, i.e., with server- and client-code in the same code base, summing 811 releases. Additionally, we collected metrics, maintenance issues, reported bugs, and release dates. We used several methodologies to devise causality relationships among the considered irregular time series, such as Granger-causality and Information Transfer Entropy(TE) with CS from previous one to four releases (lag 1 to 4).

Results
The CS typically evolve the same way inside their group and its possible to analyze them as groups. The CS group trends are: Server, slowly decreasing; Client-side embed, decreasing and JavaScript,increasing. Studying the relationship between CS groups we found that the "lack of code quality", measured with CS density proxies, propagates from client code to server code and JavaScript in half of the applications. We found causality relationships between CS and issues. We also found causality from CS groups to bugs in Lag 1, decreasing in the subsequent lags. The values are 15% (lag1), 10% (lag2), and then decrease. The group of client-side embed CS still impacts up to 3 releases before. In group analysis, server-side CS and JavaScript contribute more to bugs. There are causality relationships from individual CS to TTR on lag 1, decreasing on lag 2, and from all CS groups to TTR in lag1, decreasing in the other lags, except for client CS.

Conclusions
There is statistical inference between CS groups. There is also evidence of statistical inference from the CS to web applications’ issues, bugs, and TTR. Client and server-side CS contribute globally to the quality of web applications, this contribution is low, but significant. Depending on the outcome variable (issues, bugs, time-to-release), the contribution quantity from CS is between 10% and 20%.
A computational approach for phase-field model of quasi-brittle fracture under dynamic loading
Authors: Vodička Roman 
Published: August 2024

AbstractA computational model is formulated for studying dynamic crack propagation in quasi-brittle materials exposed to time-dependent loading conditions. Under such conditions, inertial effects of structural components play an important role in modelling crack propagation problems. The computational model is proposed within the theory of regularised cracks which uses a damage-like internal variable. Here, fracture considers phase-field damage which gives rise to a material degradation in a narrow material strip defining the regularised crack. Based on the energy formulation using the Lagrangian of the system, the proposed computational approach introduces a staggered scheme adopted to solve the coupled system and providing it in a variational form within the time stepping procedure. The numerical data are obtained by quadratic programming algorithms implemented together with a finite element code.
Advances in Video Analytics
Authors: Şahin Muhittin 
Published: August 2024

AbstractLearners interact with content, assessments, peers, and instructors in digital learning environments. Videos, which are popular due to internet technologies, capture learners’ attention, boost motivation, and enhance learning. Learning analytics broadly optimize educational environments by analyzing data, with video analytics focusing specifically on video interactions to enhance learning outcomes. Video-player interactions (e.g., play, pause) and video content interactions (e.g., true-false questions) provide insights into learner behaviors. Lack of interaction is a major reason for high dropout rates in video platforms and MOOCs. Video analytics can help address this issue by analyzing and improving engagement with video content. This special issue has a specific focus on video analytics and impact of this field to the learning experience. Four articles were included in this special issue. The findings reveal that I) the type, length, and purpose of the video are important for student engagement, ii) important tips on video-based learning design are presented, iii) when interacting with the video player, pause, play, rewind and fast forward are the most commonly used interaction types., iv) providing more information about video interaction processes with dashboards would provide much more insight, and v) dividing the videos into more than one section both creates the perception of better structuring of the process and the segmentation of the videos contributes more to learning.
Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort
Authors: Yalcin Gungoren Ezgi , Yorgun Altunbas Melek , Dikici Ummugulsum , Meric Zeynep , Eser Simsek Isil , Kiykim Ayca , Can Salim , Karabiber Esra , Yakici Nalan , Orhan Fazil , Cokugras Haluk , Aydogan Metin , Ozdemir Oner , Bilgic Eltan Sevgi , Baris Safa , Ozen Ahmet , Karakoc-Aydiner Elif 
Published: August 2024

Abstract
Background
Immunoglobulin G replacement therapy (IgRT), intravenous (IV) and subcutaneous (SC) routes, is pivotal in treatment of primary immunodeficiencies (PID). In recent years, facilitated subcutaneous immunoglobulin (fSCIG), a combination of rHuPH20 and 10% IgG has emerged as a delivery method to combine advantages of both IV and SC.

Method
In an observational prospective cohort, we investigated patient experience with fSCIG in PID patients from 5 PID centers for up to 12 months. We assessed the efficacy and safety of this treatment with patient/caregiver- and physician-reported indicators. Additionally, we analyzed patient treatment satisfaction (TSQM-9) and quality of life (QoL).

Results
We enrolled 29 patients (22 pediatric and 7 adults; 14 females and 15 males; (median: 15, min–max: 2–40.9 years) who initiated fSCIG as IgRT-naive (n = 1), switched from conventional rapid-push 10% SCIG (n = 6) or IVIG (n = 22). Among the participants, 19 (65%) exhibited antibody deficiencies, 8 (27%) combined immunodeficiencies, and 2 (7%) immune dysregulations. Remarkably, targeted trough immunoglobulin G levels were achieved under all previous IgRTs as well as fSCIG. No severe systemic adverse drug reactions were documented, despite prevalent local (%86.45) and mild systemic (%26.45) adverse reactions were noted with fSCIG. Due to mild systemic symptoms, 2 patients switched from fSCIG to 10% SCIG. The patient satisfaction survey revealed a notable increase at 2-4th (p = 0.102); 5-8th (p = 0.006) and 9-12th (p < 0.001) months compared to the baseline. No significant trends were observed in QoL surveys.

Conclusion
fSCIG demonstrates admissable tolerability and efficacy in managing PIDs in addition to notable increase of patients’ drug satisfaction with IgRT. The identified benefits support the continuation of this therapy despite the local reactions.
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
Authors: Huynh Aimee , Gray Paul E , Sullivan Anna , Mackie Joseph , Guerin Antoine , Rao Geetha , Pathmanandavel Karrnan , Mina Erika Della , Hollway Georgina , Hobbs Matthew , Enthoven Karen , O’Young Patrick , McManus Sam , Wainwright Luke H. , Higgins Megan , Noon Fallon , Wong Melanie , Bastard Paul , Zhang Qian , Casanova Jean-Laurent , Hsiao Kuang-Chih , Pinzon-Charry Alberto , Ma Cindy S , Tangye Stuart G. 
Published: August 2024

AbstractAdvanced genomic technologies such as whole exome or whole genome sequencing have improved diagnoses and disease outcomes for individuals with genetic diseases. Yet, variants of unknown significance (VUS) require rigorous validation to establish disease causality or modification, or to exclude them from further analysis. Here, we describe a young individual of Polynesian ancestry who in the first 13 mo of life presented with SARS-CoV-2 pneumonia, severe enterovirus meningitis and adenovirus gastroenteritis, and severe adverse reaction to MMR vaccination. Genomic analysis identified a previously reported pathogenic homozygous variant in IFNAR1 (c.1156G > T, p.Glu386* LOF), which is common in Western Polynesia. Moreover, a new and putatively deleterious canonical splice site variant in DOCK8 was also found in homozygosity (c.3234 + 2T > C). This DOCK8 variant is common in Polynesians and other under-represented ancestries in large genomic databases. Despite in silico bioinformatic predictions, extensive in vitro and ex vivo analysis revealed the DOCK8 variant likely be neutral. Thus, our study reports a novel case of IFNAR1 deficiency, but also highlights the importance of functional validation of VUS, including those predicted to be deleterious, and the pressing need to expand our knowledge of the genomic architecture and landscape of under-represented populations and ancestries.
Establishing a Cutoff Score for the Healing after Gender-based Violence Scale (GBV-Heal): A Brief Report
Authors: Sinko Laura , Kita Sachiko , Arnault Denise Saint 
Published: August 2024

Abstract
Purpose
To evaluate a cutoff score for the Healing after Gender-based Violence Scale (GBV-Heal)—an instrument to assess recovery progress for survivors of GBV.

Methods
We surveyed 321 women-identifying GBV survivors living in the Midwestern United States from April to December 2022 to evaluate their mental health symptom burden, trauma coping self-efficacy, sense of meaning, healing progress, and recovery stage. We used Receiver Operating Characteristic (ROC) analysis to determine the best cutoff score for the GBV-Heal.

Results
We found a cutoff point of 64 for the GBV-Heal. Those above this cutoff point were found to have significantly lower PTSD and depression symptoms and significantly higher trauma coping self-efficacy and sense of meaning compared to those below the cutoff point.

Conclusions
The GBV-Heal cutoff score can help practitioners recognize survivors needing additional support or resources as they navigate their healing journey. The use of this scale can promote tailored care for survivors seeking healing support in a variety of public health sectors.
Early warning signals of complex critical transitions in deterministic dynamics
Authors: Evers Kyra , Borsboom Denny , Fried Eiko I. , Hasselman Fred , Waldorp Lourens 
Published: August 2024

AbstractEarly Warning Signals (EWS) have generated much excitement for their potential to anticipate transitions in various systems, ranging from climate change in ecology to disease staging in medicine. EWS hold particular promise for bifurcations, a transition mechanism in which a smooth, gradual change in a control parameter of the system results in a rapid change in system dynamics. The predominant reason to expect EWS is because many bifurcations are preceded by Critical Slowing Down (CSD): if assuming the system is subject to continuous, small, Gaussian noise, the system is slower to recover from perturbations closer to the transition. However, this focus on warning signs generated by stochasticity has overshadowed warning signs which may already be found in deterministic dynamics. This is especially true for higher-dimensional systems, where more complex attractors with intrinsic dynamics such as oscillations not only become possible—they are increasingly more likely. The present study focuses on univariate and multivariate EWS in deterministic dynamics to anticipate complex critical transitions, including the period-doubling cascade to chaos, chaos-chaos transitions, and the extinction of a chaotic attractor. In a four-dimensional continuous-time Lotka–Volterra model, EWS perform well for most bifurcations, even with lower data quality. The present study highlights three reasons why EWS may still work in the absence of CSD: changing attractor morphology (size, shape, and location in phase space), shifting power spectra (amplitude and frequency), and chaotic transitional characteristics (density across attractor). More complex attractors call for different warning detection methods to utilise warning signs already contained within purely deterministic dynamics.