julilili42/papers huggingface dataset:
Frequency and risk factors of sleep problems in Egyptian patients with multiple sclerosis
2025-04-30

Background Sleep problems impact over 65% of patients with multiple sclerosis (MS), a prevalence significantly greater than that observed in the general population. This study aimed to assess the frequency and risk-associated factors of sleep problems in a large MS cohort and evaluate their impact on quality of life (QoL). Methods The study included 103 participants with MS across different disease stages and 62 healthy controls. Assessment tools included the Expanded Disability Status Scale (EDSS), Pittsburgh Sleep Quality Index (PSQI), depression and fatigue scales, 9-Hole Peg Test, 25-foot walk test, cognitive function assessments, and QoL measures. Results Sleep problems were significantly more frequent in MS patients (68.9%) than in controls (30.6%). PSQI scores showed positive correlations with the number of MS relapses across the course of disease duration, walking impairment, fatigue and depression scores. Sleep problems were determined to adversely affect various domains of quality of life. Conclusion Our findings demonstrate that sleep problems are remarkably common among patients with MS. Patients experiencing poor sleep quality are typically associated with higher levels of fatigue, depression, greater difficulty with mobility, and more frequent disease relapses. These sleep problems significantly impaired the overall QoL in MS patients. A multidisciplinary approach is therefore essential for managing sleep disorders in MS.
On “Local Theory” Neutrality with Respect to “Meta-Theories” and Data from a Diversity of “Native Speakers”, Including Heritage Speaker Bilinguals: Commentary on Hulstijn (2024)
2025-04-30

This commentary critically engages with Hulstijn’s revised Basic Language Cognition (BLC) Theory, which aims to enhance explanatory power and falsifiability regarding individual differences (IDs) in language proficiency across native and non-native speakers. While commending BLC Theory’s emphasis on separating oral and written language cognition, we raise two key concerns. First, we question the theory’s exclusive alignment with usage-based approaches, arguing that its core constructs are, in principle, compatible with multiple meta-theoretical frameworks, including generative ones. As such, BLC Theory should remain neutral to maximize its cross-paradigmatic utility. Second, we address the theory’s treatment of heritage speaker bilinguals (HSs), particularly the implication that they may not typically acquire BLC. We contend that this position overlooks robust empirical evidence demonstrating that HSs develop systematic, rule-governed grammars influenced by their individual input and usage conditions. Moreover, we highlight how IDs among HSs can provide a valuable testing ground for BLC Theory, particularly regarding the role of input and literacy. We conclude that embracing theory neutrality and integrating diverse speaker data—especially from heritage bilinguals—can enhance BLC Theory’s generalizability, empirical relevance, and theoretical utility across language acquisition research.
Detection of Small Water Bodies for Vector Control Using Deep Learning on Unmanned Aerial Vehicle Multispectral Imagery
2025-04-30

<title>Abstract</title> Vector-borne diseases pose a persistent public health challenge in tropical regions such as Vietnam, where traditional ground-based surveillance methods struggle with scale and accuracy. This study presents a framework that integrates Unmanned Aerial Vehicle (UAV) multispectral imagery with deep learning techniques to detect small-to-medium-sized water bodies, important habitats for arbovirus vectors. High-resolution multispectral images were captured with the DJI Phantom 4 (P4M) Multispectral UAV in rural and peri-urban areas of Binh Duong province in Vietnam. A curated dataset of 982 annotated images was created, comprising RGB, near-infrared (NIR), and normalized difference water index (NDWI) bands. Six state-of-the-art object detection and segmentation models were evaluated, including YOLOv7, YOLOv7x, DocF, U-Net, MSNet, and RTFNet. Among them, segmentation models (U-Net and MSNet) using RGB + Green + NIR + NDWI achieved the best performance with dice scores above 0.92. The results show that the combination of UAV multispectral imagery with deep learning significantly improves the detection accuracy of water bodies in complex tropical conditions. This approach provides a scalable, cost-effective solution for mapping small water bodies and contributes to targeted vector control and disease prevention measures in arbovirus-prone regions.
Gender Research Gap in Orthopaedics and Trauma Surgery: Gender-specific Disparities in Submission of Abstracts to the German Congress of Orthopaedic and Trauma Surgery from 2015 to 2024
2025-04-30

Abstract Gender-specific differences also affect the subject of orthopaedics and trauma surgery (O&amp;T). While the proportion of women studying medicine is steadily increasing, the proportion of female surgeons in O&amp;T is only 18.6%. This underrepresentation affects not only clinics but also research and is reflected in participation in scientific annual meetings such as the German Congress for Orthopaedics and Trauma Surgery (DKOU). This retrospective study examined the gender differences in abstract submissions to the DKOU from 2015 to 2024. The anonymised data were subjected to examination regarding gender, role in submission and academic title. The overall participation of women in the 82,813 abstracts was 20%. The proportion of women among submitters was 23.3%, among presenters 24.5% and among co-authors 18.2%. In the analysis of the female cohort alone, women were more likely to be submitters and presenters than in the male cohort (p &lt; 0.001). The proportion of female participation in abstract submissions increased by an average of 0.5% per year over the study period. However, women were significantly underrepresented at higher academic degrees, such as habilitations (7.4%), professorships (7.6%) and university professorships (5.2%). The results show that the proportion of women submitting abstracts to the DKOU largely corresponds to the percentage in the field of orthopaedics and trauma surgery (18.6% in 2022), reflecting the overall gender disparity in this specialty. If this trend analysis were applied to the general development of gender parity in orthopaedics and trauma surgery, gender-equitable staffing of medical positions could not be achieved before the year 2087. To accelerate this development, targeted measures to promote women in orthopaedics and trauma surgery are necessary. This includes dismantling structural barriers and implementing specific support programs for female surgeons pursuing academic careers.
Planned vs. Performed Treatment Regimens in Diabetic Macular Edema: Real-World Evidence from the PACIFIC Study
2025-04-30

Background: Intravitreal injections of vascular endothelial growth factor (VEGF) inhibitors are standard for diabetic macular edema (DME), yet a gap exists between clinical guidelines and actual practices. This study aimed to investigate the extent of deviation between physician-planned and actually performed treatment regimens. Methods: The PACIFIC study (NCT04847895) was a prospective, multicenter, non-interventional study conducted in Germany, the Netherlands, and Switzerland. A total of 910 patients with DME receiving ranibizumab were enrolled. Physicians documented the intended treatment regimen at baseline, and actual treatment patterns were retrospectively derived from the timing of visits and injections over a 24-month observation period. Results: Although most physicians initially planned fixed or pro re nata (PRN) regimens, 77% of pretreated and 73% of treatment-naïve patients ultimately followed a monitor and extend strategy. Treatment discontinuation was frequent (58.8% and 59.4%, respectively), and injection frequencies remained below recommended levels, although central retinal thickness improved over time. Conclusions: The study highlights a consistent and clinically relevant discrepancy between planned and actual treatment delivery in DME care, underscoring the need for better adherence to guideline-informed strategies in routine practice.
Raunkiæran shortfalls: Challenges and perspectives in trait‐based ecology
2025-05-01

Abstract Trait‐based ecology, a prominent research field identifying traits linked to the distribution and interactions of organisms and their impact on ecosystem functioning, has flourished in the last three decades. Yet, the field still grapples with critical challenges, broadly framed as Raunkiæran shortfalls. Recognizing and interconnecting these limitations is vital for designing and prioritizing research objectives and mainstreaming trait‐based approaches across a variety of organisms, trophic levels, and biomes. This strategic review scrutinizes eight major limitations within trait‐based ecology, spanning scales from organisms to the entire biosphere. Challenges range from defining and measuring traits (SF 1), exploring intraspecific variability within and across individuals and populations (SF 2), understanding the complex relationships between trait variation and fitness (SF 3), and discerning trait variations with underlying evolutionary patterns (SF 4). This review extends to community assembly (SF 5), ecosystem functioning and multitrophic relationships (SFs 6 and 7), and global repositories and scaling (SF 8). At the core of trait‐based ecology lies the ambition of scaling up processes from individuals to ecosystems by exploring the ecological strategies of organisms and connecting them to ecosystem functions across multiple trophic levels. Achieving this goal necessitates addressing key limitations embedded in the foundations of trait‐based ecology. After identifying key SFs, we propose pathways for advancing trait‐based ecology, fortifying its robustness, and unlocking its full potential to significantly contribute to ecological understanding and biodiversity conservation. This review underscores the significance of systematically evaluating the performance of organisms in standardized conditions, encompassing their responses to environmental variation and effects on ecosystems. This approach aims to bridge the gap between easily measurable traits, species ecological strategies, their demography, and their combined impacts on ecosystems.
Evolution is coupled with branching across many granularities of life
2025-05-01

Across many scales of life, the rate of evolutionary change is often accelerated at the time when one lineage splits into two. The emergence of novel protein function can be facilitated by gene duplication (neofunctionalization); rapid morphological change is often accompanied by speciation (punctuated equilibrium); and the establishment of cultural identity is frequently driven by sociopolitical division (schismogenesis). In each case, the changes resist re-homogenization; promoting assortment into distinct lineages that are susceptible to different selective pressures, leading to rapid divergence. The traditional gradualistic view of evolution struggles to detect this phenomenon. We propose a probabilistic framework that constructs phylogenies, tests for saltative branching and improves divergence time estimation by estimating the independent contributions of gradual and abrupt change on each lineage. We provide evidence of saltative branching for proteins (aminoacyl transfer RNA (tRNA) synthetases), animal morphologies (cephalopods) and human languages (Indo-European). These three cases provide unique insights: for aminoacyl-tRNA synthetases, the trees are substantially different from those obtained under gradualist models; we estimate that 99% of cephalopod morphological changes coincided with speciation events; and Indo-European dispersal is estimated to have started around 6000 BCE, corroborating the recently proposed hybrid explanation. Our open-source code is available under a General Public License.
From roadmap to a sustainable end-to-end individualized therapy pathway
2025-05-01

The field of individualized, or N-of-1, therapy development is growing and increasingly gaining attention as a novel option for people with serious diseases, caused by unique genetic variants for whom approved therapies are not available. The N-of-1 taskforce of the International Rare Disease Research Consortium previously outlined a roadmap of aspects involved in N-of-1 therapy development and implementation. Here, this follow-up paper looks forward and reflects on how to address existing gaps to advance the current state of individualized interventions toward an integrated and sustainable treatment development model. It discusses what needs to be established for N-of-1 therapies to be developed and utilized at a larger scale, which involves features like sustainability; safety; efficacy; regulatory aspects; dedicated registries and data sharing; tools; long-term treatment monitoring; partnering with patient advocates; and reimbursement models. It closes with recommendations to shape the future of individualized therapies, focusing on ethical implications, education, creation of tools, incentives for data sharing, and innovative payment models.
PKG‐Mediated Phosphorylation of TOP2A Activates HDAC to Drive Photoreceptor Cell Death in rd1 Mouse Inherited Retinal Degeneration
2025-05-01

ABSTRACT Inherited retinal degeneration (IRD) is a debilitating condition characterized by progressive loss of photoreceptor cells. However, the underlying mechanisms remain largely unclear. This study investigated the role of DNA topoisomerase II alpha (TOP2A) and its interplay with protein kinase G (PKG) and histone deacetylase (HDAC) in the rd1 mouse model for IRD. Immunofluorescence and quantitative western blotting analyses were performed to evaluate the expression of TOP2A, PKG1, PKG2, HDAC1, and other related markers. TSC24 and suberoylanilide hydroxamic acid were used to specifically inhibit TOP2A and HDAC, respectively, in organotypic retinal explant cultures derived from wild‐type or rd1 mice. Furthermore, we examined the effect of PKG activity on TOP2A phosphorylation using KT5823. Significant upregulation of TOP2A was observed in the rd1 mouse retina compared with wild‐type controls, especially in the outer nuclear layer. Phosphorylation levels of TOP2A strongly correlated with photoreceptor cell death. Treatment with TSC24 significantly reduced TOP2A‐positive and TUNEL‐positive cells. TOP2A phosphorylation was accompanied by HDAC activation, which was mitigated by TSC24. PKG inhibition by KT5823 reduced TOP2A phosphorylation at specific residues and photoreceptor HDAC activity. Our findings position TOP2A in the PKG‐TOP2A‐HDAC photoreceptor degenerative pathway, offering new potential therapeutic targets for combating IRD‐type diseases. image
Ubiquitin–proteasome system in the different stages of dominantly inherited Alzheimer's disease
2025-05-01

Abstract INTRODUCTION This study investigated the role of the ubiquitin–proteasome system (UPS) in dominantly inherited Alzheimer's disease (DIAD) by examining cerebrospinal fluid (CSF) levels of UPS proteins. METHOD The SOMAscan assay was used to detect changes in UPS proteins in mutation carriers (MCs) relative to disease progression; imaging and CSF biomarkers of amyloid, tau, and neurodegeneration measures; and Clinical Dementia Rating scale. RESULTS Subtle increases in specific ubiquitin enzymes were detected in MCs up to two decades before symptom onset, with more pronounced elevations in UPS‐activating enzymes near symptom onset. Significant correlations were found between UPS proteins and Alzheimer's disease (AD) biomarkers, especially between autophagy markers and late‐stage tau biomarkers, microglia, and axonal degeneration. DISCUSSION The rise in UPS proteins alongside tau‐related markers suggests UPS involvement in tau neurofibrillary tangles. Elevated CSF UPS proteins in DIAD MCs may serve as indicators of disease progression, and may support the UPS as a therapeutic target in AD. Highlights This study investigates the ubiquitin‐proteasome system (UPS) in Dominantly Inherited Alzheimer's Disease (DIAD), highlighting early molecular changes linked to disease progression. Using SOMAscan proteomics, we identified significant UPS protein alterations in cerebrospinal fluid of mutation carriers, notably up to 20 years before clinical symptom onset. Correlations between UPS protein levels and Alzheimer's biomarkers, particularly tau and neurodegeneration markers, suggest a strong association between UPS dysregulation and tau pathology in DIAD. Dynamic UPS changes align with A/T biological staging: UPS proteins were shown to increase across Aβ/tau (A/T) groups, with largest increases in the A+/T+ group, reinforcing their role in late‐stage tau pathology and disease progression. These findings underscore the potential of UPS proteins as early biomarkers for Alzheimer's disease progression and as novel therapeutic targets, especially in tau‐pathology‐driven neurodegeneration. This work contributes to understanding AD pathogenesis, by emphasizing the importance of protein quality control systems and by offering avenues for future biomarker discovery and therapeutic development in Alzheimer's disease.
Indecision on the use of artificial intelligence in healthcare—A qualitative study of patient perspectives on trust, responsibility and self-determination using AI-CDSS
2025-05-01

Background Patients are confronted with the digital transformation of medicine, yet there is a paucity of studies that discuss the patient perspective on AI-based clinical decision support systems (AI-CDSS). Our study addresses this research gap by focusing on their needs and concerns, especially regarding trust, responsibility, and self-determination. Methods The qualitative study was conducted between April 2021 and April 2022 with 18 patients from Germany to participate in three focus groups (5–7 per group). The groups were presented with AI-CDSS examples (surgery, nephrology, and home-ventilated care) to discuss ethical and social aspects of their implementation. The interviews were analyzed in accordance with the structured qualitative content analysis of Kuckartz and Rädiker (2022). Results The interviewees expressed considerable uncertainty regarding the AI-CDSS implementation. The results highlight the patients’ perspective of AI-CDSS as a supportive tool or as a second opinion, which could challenge long-held values of trust, responsibility, and self-determination, particularly the relationship between trust and responsibility may undergo a transformation, leading to a loss of both. Conclusion The findings demonstrate that patients perceive the AI-CDSS implementation as a challenge both for their own decision-making and for the future doctor-patient relationship. This is further indicated by the shifts of trust, responsibility, and self-determination as influencing decision-making factors. Concurrently, the findings show that the patients’ perspective is profoundly influenced by the individuals’ comprehension of the functionality of AI-CDSS. It is therefore of importance to provide patients and healthcare professionals with information to prevent indecision.
Taxonomy Disclosure in the EU – A Useful Framework, Despite Current Challenges
2025-05-01

Abstract The EU Taxonomy is a classification system for sustainable economic activities and a framework for various regulatory initiatives. Its primary objectives are to enhance transparency, to reduce greenwashing and ultimately to redirect capital toward more sustainable activities. However, since its introduction, market participants have raised concerns about whether the benefits justify the costs. This article examines current challenges, such as the initial implementation costs, data gaps, sector and counterparty coverage, while also highlighting opportunities like enhanced international competitiveness and improved ESG risk management. The focus of this article is on banks as both preparers and users of Taxonomy data, addressing issues related to Taxonomy eligibility, alignment, and the Green Asset Ratio (GAR). The article concludes with recommendations for policy makers and authorities to improve the effectiveness of the Taxonomy disclosure.
Field evaluation of the Bioline Malaria Ag P.f/Pan rapid diagnostic test: causes of microscopy discordance and performance in Uganda
2025-05-01

Abstract Background Histidine Rich Protein 2 (HRP2)/pan-Lactate Dehydrogenase (pLDH) combination rapid diagnostic tests (RDTs) may address the shortcomings of RDTs that detect HRP2 alone. However, the relative contribution of the possible causes of discordant results (RDT-negative and microscopy-positive) and performance in field settings across Uganda are poorly quantified. Methods This study utilized samples from two cross-sectional surveys conducted in 32 districts at 64 sites across Uganda between November 2021 and March 2023 that enrolled 6354 febrile participants ≥ two years of age. Discordant samples (negative by HRP2/pLDH RDT and positive by microscopy) underwent quantitative PCR (qPCR) to detect and quantify parasitaemia. Those confirmed to be positive for Plasmodium falciparum at &gt; 1 parasites/microlitre (p/μL) were tested for pfhrp2 and pfhrp3 deletions using digital PCR. Those that were negative or had P. falciparum detected at ≤ 1 p/μL underwent Plasmodium species testing using nested PCR. The performance of the Bioline Malaria Ag P.f/Pan combination RDT was evaluated by comparison with microscopy and qPCR. Results There were 166 (8.4%) discordant samples out of 1988 microscopy positive samples. Of these, 90/166 (54.2%) were confirmed to contain P. falciparum at levels &gt; 1 p/μL, whereas 76/166 (45.8%) were negative or had P. falciparum levels ≤ 1 p/μL. Only one P. falciparum positive sample was confirmed to have a deletion in pfhrp3 . The primary reasons for RDT-negative, microscopy-positive discordance in samples testing negative for P. falciparum by PCR were non-falciparum species (37/76, 48.7%) or false positives by microscopy (31/76, 40.8%). The sensitivity of the Bioline Malaria Ag P.f/Pan combination RDT was high (&gt; 91%) using either microscopy or qPCR as the gold standard. However, specificity was low (56.7%) when microscopy was used as the gold standard; it improved to 64.0% when qPCR was used as the gold standard. Conclusion The Bioline Malaria Ag P.f/Pan combination RDT was found to be highly sensitive in Uganda and reliable for ruling out malaria. False negative RDT results were primarily due to low density P. falciparum infections, non-falciparum infections, or incorrect microscopy results. In contrast, false positive RDT results were common, most likely due to persistent HRP2 antigenaemia in this high transmission setting though causes of false positive RDTs were not investigated. The low specificity of HRP2-based RDTs may result in overuse of anti-malarial drugs and missed diagnoses of non-malarial febrile illnesses.