bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis
Authors: Okubo So , Naruse Hiroya , Ishiura Hiroyuki , Sudo Atsushi , Esaki Kayoko , Mitsui Jun , Matsukawa Takashi , Satake Wataru , Greimel Peter , Shingai Nanoka , Oya Yasushi , Yoshikawa Takeo , Tsuji Shoji , Toda Tatsushi 
Published: December 2024

Abstract

Introduction
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of the motor system. Pathogenic variants in SPTLC1, encoding a subunit of serine palmitoyltransferase, cause hereditary sensory and autonomic neuropathy type 1 (HSAN1), and have recently been associated with juvenile ALS. SPTLC1 variants associated with ALS cause elevated levels of sphinganines and ceramides. Reports on ALS associated with SPTLC1 remain limited. This study aimed to investigate the frequency of SPTLC1 variants in ALS and relevant clinical characteristics.

Methods
We analyzed whole-exome and whole-genome sequence data from 40 probands with familial ALS and 413 patients with sporadic ALS without previously identified causative variants. Reverse transcription polymerase chain reaction (RT-PCR) analysis and droplet digital PCR (ddPCR) were used to assess splicing and mosaicism, respectively. Plasma sphingolipid levels were quantified to analyze biochemical consequences.

Results
The heterozygous c.58G>A, p.Ala20Thr variant was identified in a 21-year-old Japanese female patient presenting with symmetric weakness which slowly progressed over 15 years. RT-PCR analysis showed no splice defects. Plasma sphingolipid levels in the patient were significantly increased compared to her asymptomatic parents. ddPCR revealed that the asymptomatic father harbored a mosaic variant with 17% relative mutant allele abundance in peripheral blood leukocytes.

Conclusions
We identified a pathogenic c.58G>A, p.Ala20Thr SPTLC1 variant in a patient with juvenile ALS, likely inherited from an asymptomatic parent with mosaicism. Lipid analysis results are consistent with previous findings on SPTLC1-associated ALS. Further studies are necessary to determine the clinical effect of mosaic variants of SPTLC1.
Emerging drought sensitivity for large Norway spruce trees at high elevation in the High Tatras, Slovakia
Authors: Märker Frederik , Trouillier Mario , Basnet Saroj , Burger Andreas , Homolová Zuzana , Gazovic Michal , Wilmking Martin 
Published: December 2024

Abstract
Key message
Climate-growth correlations are non-stationary among all size classes, and large trees are becoming sensitive to August and September drought conditions in the year preceding growth during the last decades.

Abstract
Understanding tree growth and forest dynamics under climate change is paramount to predict changes in carbon cycling, forest development, and ecosystem services. At temperature limited sites, such as alpine treelines, tree growth is often assumed to benefit from rising temperatures, while increased drought may offset potential benefits. Tree size is known to be related to climate sensitivity and drought induced mortality, with large trees generally suffering the most from drought. To assess the relationship of tree size and climate sensitivity for Norway spruce trees at treeline, we collected 158 tree cores at treeline and the adjacent closed canopy forest in the High Tatra Mountains in Slovakia. Size classes were established based on size class isolation of the total sample set, yielding artificial tree ring chronologies with a constant size over time. We ran moving-window correlation analyses to assess the temporal development of climate sensitivity. We found climate-growth correlations to be non-stationary and with similar trends among size classes. In general, trees are temperature limited during the growing season, but correlations have shifted from June to July in recent decades. Additionally, the largest trees show an increased and significant sensitivity to August and September drought conditions in the year preceding growth. These findings emphasize the increasing influence of drought constraints on tree growth, even at supposedly temperature limited treeline sites.
Effect of home-based exercise prehabilitation on postoperative outcomes in colorectal cancer surgery: a systematic review and meta-analysis
Authors: Machado Pedro , Paixão André , Oliveiros Bárbara , Martins Raul A. , Cruz Joana 
Published: December 2024

Abstract

Purpose
Home-based exercise training may improve access to surgical prehabilitation in colorectal cancer (CRC) patients, but its efficacy remains unclear. This study systematically investigated the effects of home-based exercise prehabilitation on postoperative exercise capacity, complications, length of hospital stay, and health-related quality of life (HRQoL) in CRC patients.

Methods
Randomized controlled trials (RCTs) comparing home-based exercise prehabilitation with control in CRC patients were eligible. We searched MEDLINE, Scopus, Web of Science, PEDro, and SPORTDiscus from their inception to June 3, 2024. Methodological quality was assessed using the PEDro scale, and certainty of evidence was assessed using GRADE. Data were synthesized using random-effects meta-analyses, with sensitivity analysis on studies with good methodological quality (PEDro score ≥ 6).

Results
Eight RCTs involving 1092 participants were included. The primary analysis showed a significant improvement in postoperative 6-min walk distance following home-based exercise prehabilitation compared to control (mean difference (MD) = 30.62: 95% CI: [2.94; 57.79]; low-certainty evidence). However, sensitivity analysis revealed no significant between-group differences (MD = 22.60: 95% CI: [− 6.27; 51.46]). No significant effects of home-based exercise prehabilitation were found on postoperative complications (risk ratio = 1.00: 95% CI: [− 0.78; 1.29]; moderate‐certainty evidence), length of hospital stay (MD = − 0.20: 95% CI: [− 0.65; 0.23]; moderate‐certainty evidence), and HRQoL (physical functioning: MD = 2.62: 95% CI: [− 6.16; 11.39]; mental functioning: MD = 1.35: 95% CI: [− 6.95; 9.65]; low and very-low certainty evidence).

Conclusion
Home-based exercise prehabilitation does not reduce postoperative complications and length of hospital stay after CRC surgery. Its effects on postoperative exercise capacity and HRQoL remain uncertain due to low-quality evidence.
Egg retrieval in ground-nesting cuckoo hosts: can two species of buntings accurately identify and retrieve their own eggs?
Authors: Zhang Yuhan , Zhong Guo , Wang Longwu , Liang Wei 
Published: December 2024

Abstract
Egg retrieval in birds may help ensure the survival of eggs and improve reproductive success. However, with the risk of brood parasitism, for ground-nesting or cavity-nesting bird hosts, there is a significant reproductive cost and thus a reduction in fitness if the host wrongly retrieved the parasitic eggs. The south rock bunting (Emberiza yunnanensis) and yellow-throated bunting (E. elegans) are hosts for common cuckoos (Cuculus canorus), which coexist within the study area and breed sympatrically in ground nests. Previous studies have found that these two species exhibit strong egg recognition and egg rejection of non-mimetic eggs. In this study, red model eggs, budgerigar eggs, and the host’s own eggs were used to assess the recognition and retrieval behavior of two bunting hosts, particularly in response to different types of eggs placed at the nest edge. The results showed that both bunting hosts retrieved ca. 80% of own eggs and did not retrieve any red model eggs. This indicated that both species could distinguish non-mimetic model eggs from their own eggs and make appropriate decisions, which is consistent with their responses when encountering foreign eggs in the nest. However, both species simultaneously retrieved some (8.3% for the yellow-throated bunting and 19% for south rock bunting) of the highly mimetic budgerigar eggs, indicating that the degree of mimicry of foreign eggs affects their egg recognition and egg retrieval behavior. Factors such as parasitism risk, nest predation pressure, age differences, and experience of parent birds may combine to influence egg retrieval behavior of the host.
Fatigue Characterization of Composite Laminates with Interface Hybrid Toughening Using a Single-Step Joint Configuration
Authors: Wang Sheng , İnal Oğuzcan , Katnam Kali Babu , Zou Zhenmin , Potluri Prasad , Soutis Constantinos 
Published: December 2024

AbstractThis study investigates the effect of interface hybrid toughening on the fatigue performance of composite laminates by examining a single-step joint configuration with a bondline incorporating core-shell rubber (CSR) nanoparticles and thermoplastic micro-fiber polyphenylene sulfide (PPS) veils. Three types of bondlines for the single-step joint configuration are produced by resin infusion process: untoughened (i.e. Baseline), single-material toughened (i.e. 10 wt% CSR nanoparticles or 20 g/m2 PPS veils) and hybrid toughened (i.e. 10 wt% CSR particles and 20 g/m2 PPS veils). High-cycle tension fatigue tests with zero load ratio (i.e. R = 0) are conducted. Backface strain measurements and two-dimensional digital image correlation (2D DIC) are employed to evaluate the initiation and propagation of the crack developed at the untoughened and toughened bondlines. The results show that the hybrid interface toughening method increases the fatigue life (i.e. by ∼49% at low load level and ∼278% at high load level) and reduces crack growth rate, outperforming the untoughened as well as non-hybrid toughened fracture resistance.
Teachers and Students Envisioning Mixed Reality Remote Learning: A Qualitative Exploration on Fostering Academic Engagement
Authors: Goagoses Naska , Winschiers-Theophilus Heike , Auala Selma , Pope Nicolas , Rötkönen Erkki , Itenge Helvi , Suero Montero Calkin , Suovuo Tomi , Sutinen Erkki 
Published: December 2024

AbstractMixed reality (MR) provides new opportunities and affordances for fostering student engagement in remote learning. The current qualitative case study set out to (1) explore teachers’ perspective of academic engagement in traditional classrooms, (2) explore how teachers’ and students’ envision engaging lessons using MR for remote learning, and (3) extrapolate limitations and affordances for the further development of MR for remote learning. Eight students and four teachers from a primary school in Namibia participated. Each participant wore the HoloLens 2, interacting with others who were live streamed from another room. Group interviews with the teachers revealed core practices and strategies focused on the centrality of students, student-teacher relationships, rewards and evaluations, and the physical environment for creating engagement in traditional classrooms. Teachers and students participated in role-plays centered around fostering emotional, behavioral, and agentic engagement in imagined lessons that used MR for live streaming from different locations. The role-playing teachers mainly used verbal practices and strategies for fostering closeness, as well as giving feedback and evaluations. However, many strategies previously named or found in the literature were not enacted and symbolic MR boundaries were crossed. Based on our results, we derived affordances and future directions for the further design and development of MR for remote learning.
Use and Abuse of Instance Parameters in the Lean Mathematical Library
Authors: Baanen Anne 
Published: December 2024

AbstractThe Lean mathematical library Mathlib features extensive use of the typeclass pattern for organising mathematical structures, based on Lean’s mechanism of instance parameters. Related mechanisms for typeclasses are available in other provers including Agda, Coq and Isabelle with varying degrees of adoption. This paper analyses representative examples of design patterns involving instance parameters in the finalized Lean 3 version of Mathlib, focussing on complications arising at scale and how the Mathlib community deals with them.
Mapping for Mapping’s Sake? Ecosystems Services Maps and the Modes of (Ir)relevance of Ecological Knowledge for Nature Conservation
Authors: Brunet Lucas 
Published: December 2024

AbstractIn the face of enduring environmental decline, ecologists are continuously exploring new ways to improve the relevance of their research and address nature conservation issues. Hoping for more relevant solutions than former species-centered conservation, some ecologists have mapped ecosystems and the services they deliver to human societies. Maps offer crucial, but understudied, relevance-making tools. By proposing a relational conceptualisation of relevance, I demonstrate that maps can make issues simultaneously relevant and irrelevant for conservation. In two mapping projects conducted at the European Union level by the Working Group Mapping and Assessment of Ecosystems and their Services and at the French regional scale by the Laboratoire d’Écologie Alpine, I investigate how the (ir)relevance of ecosystem services maps is enacted through different modes. I successively show that: ecologists employed maps to re-orient their research toward social issues, but were constrained by the available quantified data (mode A); they used maps to implement a biopolitical approach and decide which ecosystems to protect, yet grappled with the imprecision of maps (mode B); and they engaged stakeholders in map development, but had to make excessive adjustments to align with their demands (mode C). I conclude by arguing that ecosystem services maps exemplify an automation of relevance, where relevance is more conditioned by technical feasibility than by the conceptualisation of solutions to conservation issues. Ultimately, the article contributes to the relevance scholarship by advancing the concept of irrelevance, operationalising the study of modes of relevance, and demonstrating that relevance is an inherently relational process.
Barriers and facilitators to implementing polypharmacy management frameworks: a theory based qualitative exploration of key stakeholders
Authors: Al Bulushi S. , McIntosh T. , Talkhan H. , Grant A. , Stewart D. , Al Famy M. , Cunningham S. 
Published: December 2024

Abstract
Background
Inappropriate polypharmacy arises through many factors including deficiencies in prescribing processes. Most research has focused on solutions at the clinician/patient levels with less at the organisational level.

Aim
To explore key stakeholder identified barriers and facilitators to implementation of an organisational level polypharmacy management framework.

Method
Qualitative data were collected within the Ministry of Health in Oman. Key stakeholders were purposively sampled encompassing senior representatives of pharmacy, medicine, and nursing directors; healthcare policymakers; patient safety leaders; and academic leaders. A semi-structured interview schedule was developed informed by a recent scoping review and underpinned by the Consolidated Framework for Implementation Research (CFIR). Interviews, which continued until data saturation, were audio-recorded, transcribed and analysed using the Framework Approach.

Results
Thirteen key stakeholders were interviewed, with representation of each target group. Facilitators largely mapped to the CFIR domain of inner setting (i.e., aspects of stakeholder awareness, the electronic health system and national leadership), intervention characteristic (evidence gaps), characteristics of individuals (stakeholders and champions) and process (change strategy). Barriers also largely mapped to the inner setting (policy absence, communication and health professional practice) and outer setting (resource needs).

Conclusion
This study has illuminated the facilitators and barriers to the implementation of an organisational level polypharmacy management framework. Further work is required to translate these themes into an actionable plan to implement the framework. Particular attention is required for aspects of the CFIR domain of inner setting (i.e., the internal context within which implementation occurs) as most barriers mapped to this domain.
Demanding financial self-sufficiency after divorce: understanding the consequences of the 2008 Alimony Reform
Authors: Schaubert Marianna , Köckeis Johannes 
Published: December 2024

AbstractIn this paper, we examine whether and to what extent the 2008 Alimony Reform in Germany had an impact on alimony, its likelihood of payment, and cooperation between former spouses. In 2008, financial self-responsibility was imposed on divorcees by limiting post-marital alimony. By estimating panel event models and exploiting the German Tax Payer Panel, we show a significant decline in the likelihood of alimony payment and cooperation for tax purposes after separation. Moreover, the alimony amount was significantly reduced, thus, demonstrating an important redistribution effect of the 2008 Reform. The financially better-off individuals – mainly men – significantly benefited at the expense of their former spouses.
Treatment trends and risks of corticosteroid use in adult primary immune thrombocytopenia: a claims database study in Japan
Authors: Kashiwagi Hirokazu , Miura Isao , Terasawa Naohiko , Iwayama Ken-ichi , Furukawa Yuka , Kanenishi Makoto 
Published: December 2024

Abstract
Recent trends in the treatment of primary immune thrombocytopenia (ITP) were investigated using a claims database that included data from 16,161 Japanese patients with ITP collected from April 2014 to August 2022. Of the 4144 adult patients analyzed, 1276 received corticosteroids. The mean and median durations of corticosteroid use were 115.31 and 41 days, respectively. The time to withdrawal of corticosteroids was significantly shorter in 2020 to 2021 than in 2015 to 2019. Additionally, the number of prescriptions for thrombopoietin receptor agonists increased from 2015 to 2021 and exceeded that of corticosteroids in 2021. While these results suggest a trend towards reduction in corticosteroid use in real-world settings in Japan, 12.00% of patients received a corticosteroid dose of ≥ 10 mg/day at Week 12. Furthermore, 23.05% of patients continued to receive corticosteroids at Week 24, indicating that some patients were still receiving long-term corticosteroid treatment. The risk of adverse outcomes was significantly associated with corticosteroid use. In conclusion, new treatment options may lead to more sophisticated ITP management with less corticosteroid use, although further research and reconsideration of clinical practice guidelines is needed.
Recording Fast Ion Channel Kinetics Using Non-invasive Electrical Impedance Spectroscopy
Authors: Cao Yuan , Cheng Linhan , Schmalzing Günther , Hausmann Ralf , Schnakenberg Uwe 
Published: December 2024

AbstractLigand-gated ion channels are involved in numerous pathophysiological processes and are, therefore, important targets for drug discovery. We describe a new microfluidic lab-on-a-chip device that allows the recording of fast ligand-gated ion channel kinetics in Xenopus laevis oocytes by non-invasive electrical impedance spectroscopy (EIS). The device, designated as Aachen Fast Ion Channel Sensor (AFIS) system, consists of two chambers separated by an orifice for capturing an oocyte by applying suction to the lower chamber. For channel recordings, annular electrodes are placed above and below the orifice. As a proof of concept, we recorded the EIS responses of the X. laevis oocyte-expressed human P2X2 receptor (hP2X2R), which functions as a non-desensitizing adenosine triphosphate (ATP)-gated cation-selective channel. The impedance data were fitted with an appropriate equivalent electrical circuit model. After ATP application, both EIS and TEVC recordings showed similar fast responses, which reflected the rapid solution exchange. Concentration–response curves determined by EIS or TEVC were virtually similar, indicating that agonist potency can be reliably determined by EIS. The oocytes survived the EIS measurements intact and can be reused for further electrophysiological or other purposes. The AFIS system can be used with the noticeable electrical leakage between the oocyte and the orifice. This feature significantly reduces the amount of preparation time required to create a high-resistance seal. Therefore, the system offers the possibility to easy perform high-throughput drug screening, especially when multiple measurement sites are placed on one chip and a multiplexer is connected for simultaneous EIS measurements.
Adsorptive removal of emulsified crude oil from produced water using modified biowaste; its kinetics and thermodynamic study
Authors: Al-Muhtaseb R. , Bhagyaraj S. , Chehimi M. M. , Krupa I. 
Published: December 2024

AbstractThe recycling and reuse of a naturally occurring biowaste (Cuttlefish-bone, CB) for the active removal of organic moieties originating from crude oil contaminants from low-saline-produced water is investigated in this study. Cuttlefish bone powder, primarily composed of calcium carbonate, was prepared, characterized, and modified for use in the tertiary treatment of emulsified oil/water mixtures with low oil content (around 100 ppm). The aim was to assess its potential as an adsorbent material for removing residual oil from water during the final stage of wastewater treatment. Alkaline treatment was done to improve the surface charge and porosity of the adsorbent. The surface area and the surface volume of the treated CB increased from 3.4 m2/g to 11.8 m2/g and 6.8 nm to 15.1 nm respectively. Batch adsorption analysis of the adsorbents for the adsorption of oil from produced water showed an increased oil adsorption efficiency from 52.7% to 71% for the alkali-treated CB. The kinetic study showed that during the first 60 min of the adsorption process, maximum adsorption occurred following the pseudo-first-order kinetics with a correlation coefficient R2 > 0.99, indicating the dominance of physical interaction. The results reveal that cuttlefish bone biowaste can be recycled as an effective adsorbent for produced water treatment.
Graphical Abstract
Capsular Bag Performance of a Novel Hydrophobic Single-Piece Intraocular Lens
Authors: Waser Klemens , Straßmair Klaus , Pomberger Leon , Khalil Haidar , Laubichler Peter , Bolz Matthias , Hirnschall Nino 
Published: December 2024

Abstract

Introduction
We conducted an evaluation of capsular bag performance of the Clareon CNA0T0 intraocular lens (IOL), focusing on postoperative anterior chamber depth (ACD), IOL tilt, and IOL decentration.

Methods
Inclusion criteria were bilateral age-related cataract and the ability to provide informed consent. Exclusion criteria were prior surgeries, combined surgeries, and conditions posing a risk for postoperative capsular bag instability. Preoperative and 8-week postoperative assessments included optical biometry and high-resolution anterior segment optical coherence tomography (OCT). Subjective refraction was conducted only at 8 weeks postoperative visit.

Results
In the first analysis, 49 right eyes of 49 patients were included. Mean preoperative and postoperative ACD were 3.10 and 4.69 mm, respectively. Mean preoperative tilt was 4.77°, increasing to 5.06° postoperatively. Preoperative decentration was 0.16 mm, increasing to 0.26 mm postoperatively. Absolute refractive error (ARE) was + 0.31D, with 81% of eyes within ± 0.5D limits. In analysis II (98 eyes of 49 patients), both eyes showed a moderate correlation in IOL tilt (Pearson correlation coefficient: 0.27, p = 0.061) and a low correlation in IOL decentration (Pearson correlation coefficient: 0.02, p = 0.892) and ARE (Spearman: 0.15, p = 305) between right and left eyes of the same patient.

Conclusions
The Clareon CNA0T0 IOL demonstrated high mechanical stability, with low postoperative tilt and decentration values, resulting in excellent refractive outcomes and visual acuity. These findings confirm the IOL’s high stability within the capsular bag and effectiveness in minimizing postoperative refractive error, requiring only minor A-constant adjustments for optimal cataract surgery outcomes.

Trial Registration
NCT06595693.