bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population‐Scale Data
Authors: Kumar Mukesh , Sharma Srishti , Pandey Sanjay , Mammayil Geetha , Pala kuzhiyil Aslam , Sreesh Srijaya , Arakkal Riyaz , Radhakrishnan Divya M. , Rajan Roopa , Amalnath Deepak , Gulati Reena , Tayade Naresh , Sadasivan Shine , Valsan Arun , Menon Jagadeesh , Kamate Mahesh , Mathur Sandeep Kumar , Mahadevan Radha , Dhingra Bhavna , Rajan Rajneesh , Singh Kuldeep , Shalimar  , Geevarghese Suja K. , Kumar Vikram S. , Menachery John , Aliyar Aminu , Bhoyar Rahul C. , Jolly Bani , Jain Abhinav , Vittal Rangan Arvinden , Moitra Trisha , Mhaske Aditi , Gupta Vishu , Senthivel Vigneshwar , Mishra Anushree , Saini Arti , Gaharwar Utkarsh , Sivasubbu Sridhar , Scaria Vinod , B. K. Binukumar 
Published: November 2024

AbstractBackgroundWilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.ObjectivesIn India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.MethodsA multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing. The study used the InDelible structural variants calling pipeline and conducted molecular dynamic simulations on variants of uncertain significance (VUS) in ATP7B AlphaFold protein structures. Additionally, a high‐throughput gene screening panel for WD was developed.ResultsThis study examined 128 clinically diagnosed cases of WD, revealing 74 genetically confirmed cases, 22 with ATP7B variants, and 32 without. Twenty‐two novel ATP7B gene variants were identified, including a 322 bp deletion classified as a structural variant. Molecular dynamics simulations highlighted the potential deleterious effects of 11 ATP7B VUS. Gene burden analysis suggested associations with ANO8, LGR4, and CDC7. ATP7B gene hotspots for pathogenic variants were identified. Prevalence and carrier rates were determined as one in 18,678 and one in 67, respectively. A multiplex sequencing panel showed promise for accurate WD diagnosis.ConclusionsThis study offers crucial insights into WD's genetic variations and prevalence in India, addressing its underdiagnosis. It highlights the novel genetic variants in the ATP7B gene, the involvement of other genes, a scalable, cost‐effective multiplex sequencing panel for WD diagnosis and management and promising advancements in WD care.
Early Changes in the Locus Coeruleus in Mild Cognitive Impairment with Lewy Bodies
Authors: Železníková Žaneta , Nováková L'ubomíra , Vojtíšek Lubomír , Brabenec Luboš , Mitterová Kristína , Morávková Ivona , Rektorová Irena 
Published: November 2024

AbstractBackgroundAlthough neuromelanin‐sensitive magnetic resonance imaging (NM‐MRI) has been used to evaluate early neurodegeneration in Parkinson's disease, studies concentrating on the locus coeruleus (LC) in pre‐dementia stages of dementia with Lewy bodies (DLB) are lacking.ObjectivesThe aims were to evaluate NM‐MRI signal changes in the LC in patients with mild cognitive impairment with Lewy bodies (MCI‐LB) compared to healthy controls (HC) and to identify the cognitive correlates of the changes. We also aimed to test the hypothesis of a caudal‐rostral α‐synuclein pathology spread using NM‐MRI of the different LC subparts.MethodsA total of 38 MCI‐LB patients and 59 HCs underwent clinical and cognitive testing and NM‐MRI of the LC. We calculated the contrast ratio of NM‐MRI signal (LC‐CR) in the whole LC as well as in its caudal, middle, and rostral MRI slices, and we compared the LC‐CR values between the MCI‐LB and HC groups. Linear regression analyses were performed to assess the relationship between the LC‐CR and cognitive outcomes.ResultsThe MCI‐LB group exhibited a significant reduction in the right LC‐CR compared to HCs (P = 0.021). The right LC‐CR decrease was associated with impaired visuospatial memory in the MCI‐LB group. Only the caudal part of the LC exhibited significant LC‐CR decreases in MCI‐LB patients compared to HCs on both sides (P < 0.0001).ConclusionsThis is the first study that focuses on LC‐CRs in MCI‐LB patients and analyzes the LC subparts, offering new insights into the LC integrity alterations in the initial stages of DLB and their clinical correlates. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Small but mighty: Platelets as multifunctional architects of tumor metastasis and immune regulation
Authors: Tang Leyi , Shi Hubing , Luo Yong 
Published: November 2024

AbstractPlatelets play an irreplaceable role in hemostasis and wound healing. However, beyond these classical roles, as the smallest anucleate cells in the blood stream, they are crucial for immune response which have inflammatory functions through specialized receptors and different signaling pathways, influencing both innate and adaptive immune response. Furthermore, many research have proved that platelets significantly contribute to tumor metastasis and are associated with poor prognoses in cancer patients through its coagulability and supporting an immunosuppressive tumor microenvironment. When tumor cells detach from the primary tumor mass and enter the bloodstream, they rapidly initiate the direct activation and adhesion of platelets, forming a protective microenvironment. This environment shields circulating tumor cells (CTCs) from the mechanical shear forces of blood flow and immune surveillance. Here we delve into the interaction between platelets and immunomodulation and explore the multifaceted roles and underlying mechanisms by which platelets influence tumor cell metastasis and tumor growth. Furthermore, we also discussed the diagnostic role of platelets in cancer occurrence and progression, as well as the feasibility and prospects of targeting platelets for antitumor immunotherapy. This review provides a multidimensional perspective and reference for platelet‐related cancer treatment strategies and diagnosis.
Radiomics‐guided generative adversarial network for automatic primary target volume segmentation for nasopharyngeal carcinoma using computed tomography images
Authors: Jin Juebin , Zhang Jicheng , Yu Xianwen , Xiang Ziqing , Zhu Xuanxuan , Guo Mingrou , Zhao Zeshuo , Li WenLong , Li Heng , Xu Jiayi , Jin Xiance 
Published: November 2024

AbstractBackgroundAutomatic primary gross tumor volume (GTVp) segmentation for nasopharyngeal carcinoma (NPC) is a quite challenging task because of the existence of similar visual characteristics between tumors and their surroundings, especially on computed tomography (CT) images with severe low contrast resolution. Therefore, most recently proposed methods based on radiomics or deep learning (DL) is difficult to achieve good results on CT datasets.PurposeA peritumoral radiomics‐guided generative adversarial network (PRG‐GAN) was proposed to address this challenge.MethodsA total of 157 NPC patients with CT images was collected and divided into training, validation, and testing cohorts of 108, 9, and 30 patients, respectively. The proposed model was based on a standard GAN consisting of a generator network and a discriminator network. Morphological dilation on the initial segmentation results from GAN was first conducted to delineate annular peritumoral region, in which radiomics features were extracted as priori guide knowledge. Then, radiomics features were fused with semantic features by the discriminator's fully connected layer to achieve the voxel‐level classification and segmentation. The dice similarity coefficient (DSC), 95% Hausdorff distance (HD95), and average symmetric surface distance (ASSD) were used to evaluate the segmentation performance using a paired samples t‐test with Bonferroni correction and Cohen's d (d) effect sizes. A two‐sided p‐value of less than 0.05 was considered statistically significant.ResultsThe model‐generated predictions had a high overlap ratio with the ground truth. The average DSC, HD95, and ASSD were significantly improved from 0.80 ± 0.12, 4.65 ± 4.71 mm, and 1.35 ± 1.15 mm of GAN to 0.85 ± 0.18 (p = 0.001, d = 0.71), 4.15 ± 7.56 mm (p = 0.002, d = 0.67), and 1.11 ± 1.65 mm (p < 0.001, d = 0.46) of PRG‐GAN, respectively.ConclusionIntegrating radiomics features into GAN is promising to solve unclear border limitations and increase the delineation accuracy of GTVp for patients with NPC.
Orientation‐independent quantification of macromolecular proton fraction in tissues with suppression of residual dipolar coupling
Authors: Gao Zijian , Yu Ziqiang , Zhou Ziqin , Hou Jian , Jiang Baiyan , Ong Michael , Chen Weitian 
Published: November 2024

AbstractQuantitative magnetization transfer (MT) imaging enables noninvasive characterization of the macromolecular environment of tissues. However, recent work has highlighted that the quantification of MT parameters using saturation radiofrequency (RF) pulses exhibits orientation dependence in ordered tissue structures, potentially confounding its clinical applications. Notably, in tissues with ordered structures, such as articular cartilage and myelin, the residual dipolar coupling (RDC) effect can arise owing to incomplete averaging of dipolar–dipolar interactions of water protons. In this study, we demonstrated the confounding effect of RDC on quantitative MT imaging in ordered tissues can be suppressed by using an emerging technique known as macromolecular proton fraction mapping based on spin‐lock (MPF‐SL). The off‐resonance spin‐lock RF pulse in MPF‐SL could be designed to generate a strong effective spin‐lock field to suppress RDC without violating the specific absorption rate and hardware limitations in clinical scans. Furthermore, suppressing the water pool contribution in MPF‐SL enabled the application of a strong effective spin‐lock field without confounding effects from direct water saturation. Our findings were experimentally validated using human knee specimens and healthy human cartilage. The results demonstrated that MPF‐SL exhibits lower sensitivity to tissue orientation compared with ,, and saturation‐pulse‐based MT imaging. Consequently, MPF‐SL could serve as a valuable orientation‐independent technique for the quantification of MPF.
Motion and magnetic field inhomogeneity correction techniques for chemical exchange saturation transfer (CEST) MRI: A contemporary review
Authors: Simegn Gizeaddis Lamesgin , Sun Phillip Zhe , Zhou Jinyuan , Kim Mina , Reddy Ravinder , Zu Zhongliang , Zaiss Moritz , Yadav Nirbhay Narayan , Edden Richard A. E. , van Zijl Peter C. M. , Knutsson Linda 
Published: November 2024

AbstractChemical exchange saturation transfer (CEST) magnetic resonance imaging (MRI) has emerged as a powerful imaging technique sensitive to tissue molecular composition, pH, and metabolic processes in situ. CEST MRI uniquely probes the physical exchange of protons between water and specific molecules within tissues, providing a window into physiological phenomena that remain invisible to standard MRI. However, given the very low concentration (millimolar range) of CEST compounds, the effects measured are generally only on the order of a few percent of the water signal. Consequently, a few critical challenges, including correction of motion artifacts and magnetic field (B0 and B1+) inhomogeneities, have to be addressed in order to unlock the full potential of CEST MRI. Motion, whether from patient movement or inherent physiological pulsations, can distort the CEST signal, hindering accurate quantification. B0 and B1+ inhomogeneities, arising from scanner hardware imperfections, further complicate data interpretation by introducing spurious variations in the signal intensity. Without proper correction of these confounding factors, reliable analysis and clinical translation of CEST MRI remain challenging. Motion correction methods aim to compensate for patient movement during (prospective) or after (retrospective) image acquisition, reducing artifacts and preserving data quality. Similarly, B0 and B1+ inhomogeneity correction techniques enhance the spatial and spectral accuracy of CEST MRI. This paper aims to provide a comprehensive review of the current landscape of motion and magnetic field inhomogeneity correction methods in CEST MRI. The methods discussed apply to saturation transfer (ST) MRI in general, including semisolid magnetization transfer contrast (MTC) and relayed nuclear Overhauser enhancement (rNOE) studies.
From Corporate Artification to Artification in the Third Sector
Authors: Turrini Alex , Massi Marta , Piancatelli Chiara 
Published: November 2024

ABSTRACTArtification refers to the process by which objects, practices, or entities not traditionally considered art are transformed into socially accepted art forms. A common example is graffiti, which was once regarded as vandalism but has since evolved into a recognized and celebrated form of art, but organizations and brands can also engage in artification strategies. This special issue of the Journal of Philanthropy and Marketing explores the concept of artification, with a particular focus on its application within the third sector. The six papers in this issue examine how artification fosters creativity, innovation, and social impact in non‐profits. Through case studies and empirical research, the issue demonstrates how third‐sector organizations, such as arts and culture institutions, charities, and foundations, can leverage artification not only to support the arts but also to enhance their legitimacy, build stronger community relationships, and increase credibility with stakeholders. The special issue examines studies on artification in both non‐profit organizations and corporate initiatives, emphasizing how art fosters social sustainability through creative partnerships. Collectively, these papers underscore the transformative potential of artification in the third sector, offering valuable insights for non‐profits seeking to integrate art into their strategic initiatives and enhance their social impact.
The Stepwise Artification Process in Luxury Fashion: Strategic Integration With the Arts and Collaboration With Non‐Profit Institutions
Authors: Mion Dalle Carbonare Piergiacomo , Luchetti Marco , Rurale Andrea , Fanin Elisa 
Published: November 2024

ABSTRACTThis article investigates the diverse artification strategies used by luxury fashion brands to strengthen their connection with the art world and emphasises how these strategies infuse objects, practices, and brands with artistic value. Using a theoretical framework, the research classifies the Altagamma and Comité Colbert brands into distinct clusters representing various stages of the artification process, from early exploration to full integration of artistic practices. The study analyses the ways in which these stages reflect the brands’ historical evolution and strategic investments in artification, particularly in response to market threats. Between 2019 and 2024, 81.25% of the 39 brands examined in this study engaged in at least one artistic activity, such as artist collaborations, art installations or incorporating artistic elements into collections. This study offers new insights by expanding the understanding of artification and classifying underexplored connections between luxury brands, artists and non‐profit cultural institutions. It reveals how brands, despite differing approaches, recognise artification as a key strategy in enhancing identity and positioning in the luxury market.
Experimental and numerical studies of the open hole tensile strength of drilled‐ and molded‐hole unidirectional laminates
Authors: Liu Dongxu , Zhao Shicai , Zhang Deyuan 
Published: November 2024

AbstractIn this paper, we created a new molded‐hole process to manufacture holes instead of drilling in unidirectional (UD) carbon fiber reinforced plastics avoid fiber discontinuity. Several open hole tensile (OHT) tests were carried out on specimens with Cross ply (CP) and Quasi‐isotropic (QI) stacking sequence with drilled holes and molded holes. At the same time, we established finite element analysis (FEA) models of drilled‐hole laminate and molded‐hole laminate to characterize the stress field around the hole. The numerical analysis results reveals that the max principal strain distribution around the molded hole has much higher coincidence with fiber axial direction than that in drilled‐hole laminate. Moreover, the OHT strength results of QI specimens indicate that the plates with molded holes were more 50% higher than those with drilled holes. This process will provide reference for molded UD CFRP structure holes. And the numerical model can help engineering designer make OHT strength prediction.Highlights
A new molded‐hole process for unidirectional prepreg was created.
Molded‐hole specimens have higher open hole tensile strength than drilled‐hole pieces.
The simulation results were close to the experimental results.
Novel Nordaucane Sesquiterpenoid and Sesquiterpene Lactone From Laserpitium Species: Isolation, Structure Elucidation, In Vitro, In Vivo, and In Silico Evaluation as Anticancer Agents
Authors: Güleç Meltem , Şenol Halil , Tan Nur 
Published: November 2024

ABSTRACTIntroductionThis study explores the cytotoxic activity‐guided isolation of the underground parts of Laserpitium hispidum M. Bieb and Laserpitium petrophilum Boiss. & Heldr., which have not been previously investigated.ObjectivesThe aim is to isolate and evaluate bioactive compounds from Laserpitium L. species with anticancer potential.Material and MethodsThis study involves bioactivity‐guided isolation and structural studies of the pure compounds utilizing NMR, UV–Vis, IR spectroscopies, and HRMS. The cytotoxic activity of the isolated compounds was evaluated in vitro and in vivo, whereas molecular modeling, docking, and ADME predictions were conducted using Schrödinger software.ResultsThe study isolated phenylpropanoids (laserine (1), latifolone (2), myristicin (3)), sterol (stigmasterol (4)), polyenes (falcarindiol (5)), sesquiterpene lactone (11‐hydroxybadkhyzin (6)), and nordaucane sesquiterpene (norlasidiol angelate (7)) from L. hispidum, whereas L. petrophilum yielded 10β‐acetoxy‐8α‐angeloyloxy‐6αH,7αH‐guaian‐3‐en‐12,6‐olide (8), 10β‐acetoxy‐8α‐senecioyloxy‐6αH,7αH‐guaian‐3‐en‐6,12‐olide (9) and acetylisomontanolide (10). Molecular docking simulations revealed stable interactions between compounds 7 and 9 with estrogen receptor α (ERα) and vascular endothelial growth factor receptor 2 (VEGFR2), with compound 7 showing superior stability and binding affinity. In silico ADME predictions indicated favorable pharmacokinetic properties, including high oral absorption.ConclusionCompounds 7 and 9, representing new nordaucane and sesquiterpene lactones, have not been previously reported. In vitro cytotoxicity revealed that compound 7 exhibits potent anti‐cancer activity against MCF‐7 cells, whereas compound 9 showed reduced cytotoxicity. In vivo testing in Caenorhabditis elegans supported these findings, suggesting safety and efficacy in organisms. In silico results emphasize the potential of these compounds, with compound 7 promising due to its stability and strong binding affinity.
Standardised and Reproducible Phenotyping Using Distributed Analytics and Tools in the Data Analysis and Real World Interrogation Network (DARWIN EU)
Authors: Dernie Francesco , Corby George , Robinson Abigail , Bezer James , Mercade‐Besora Nuria , Griffier Romain , Verdy Guillaume , Leis Angela , Ramirez‐Anguita Juan Manuel , Mayer Miguel A. , Brash James T. , Seager Sarah , Parry Rowan , Jodicke Annika , Duarte‐Salles Talita , Rijnbeek Peter R. , Verhamme Katia , Pacurariu Alexandra , Morales Daniel , Pinheiro Luis , Prieto‐Alhambra Daniel , Prats‐Uribe Albert 
Published: November 2024

ABSTRACTPurposeThe generation of representative disease phenotypes is important for ensuring the reliability of the findings of observational studies. The aim of this manuscript is to outline a reproducible framework for reliable and traceable phenotype generation based on real world data for use in the Data Analysis and Real‐World Interrogation Network (DARWIN EU). We illustrate the use of this framework by generating phenotypes for two diseases: pancreatic cancer and systemic lupus erythematosus (SLE).MethodsThe phenotyping process involves a 14‐steps process based on a standard operating procedure co‐created by the DARWIN EU Coordination Centre in collaboration with the European Medicines Agency. A number of bespoke R packages were utilised to generate and review codelists for two phenotypes based on real world data mapped to the OMOP Common Data Model.ResultsCodelists were generated for both pancreatic cancer and SLE, and cohorts were generated in six OMOP‐mapped databases. Diagnostic checks were performed, which showed these cohorts had broadly similar incidence and prevalence figures to previously published literature, despite significant inter‐database variability. Co‐occurrent symptoms, conditions, and medication use were in keeping with pre‐specified clinical descriptions based on previous knowledge.ConclusionsOur detailed phenotyping process makes use of bespoke tools and allows for comprehensive codelist generation and review, as well as large‐scale exploration of the characteristics of the resulting cohorts. Wider use of structured and reproducible phenotyping methods will be important in ensuring the reliability of observational studies for regulatory purposes.
Real‐World Evidence of Indapamide‐Induced Rhabdomyolysis: A Retrospective Analysis of Electronic Health Records
Authors: Alroba Raseel , Alfakhri Almaha , Badreldin Hisham , Alrwisan Adel , Almadani Ohoud 
Published: November 2024

ABSTRACTPurposePrevious research and pharmacovigilance monitoring activities have suggested a potential association between indapamide use and rhabdomyolysis. This study aims to investigate the potential causal relationship between the use of indapamide and rhabdomyolysis.MethodsA case–control study conducted using electronic health records data, between July 1, 2016 and December 31, 2022. Patients who have rhabdomyolysis event (cases) were matched to four controls bases on age, gender, and date. We examined the odds for indapamide exposure through three risk periods: current use, recent use, and former. The study outcome was ascertained through the presence of CK level over 1000 U/L (i.e., rhabdomyolysis event). Subsequently, a multivariable conditional logistic regression analysis was utilized to assess the causal association of indapamide exposure on the likelihood of developing rhabdomyolysis, while accounting for potential confounding variables.ResultsThe study population consisted of 2965 cases and 11 860 controls. The results of the conditional logistic regression analysis indicated a lack of association between exposure to indapamide for the current users with an odds ratio (OR) of 0.6 (95% confidence intervals (CI): 0.39–1.05). The odds of recent indapamide use among cases was lower than controls (OR 0.2; 95% CI: 0.14–0.47). Lastly, the OR for former use of indapamide was 0.1 (95% CI: 0.07–0.23).ConclusionsIn this study, we did not find association between indapamide use and rhabdomyolysis regardless timing of exposure.