bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant
Authors: Lim Shen-Yang , Toh Tzi Shin , Hor Jia Wei , Lim Jia Lun , Lit Lei Cheng , Ahmad-Annuar Azlina , Tay Yi Wen , Foo Jia Nee , Ng Ebonne Yulin , Muthusamy Kalai Arasu , Mohamed Ibrahim Norlinah , Ibrahim Khairul Azmi , Tan Louis Chew Seng , Zulkefli Jannah , Khairul Anuar Anis Nadhirah , Black Kirsten , Lis Pawel , Xie Fei , Cen Zhidong , Lim Kai Shi , Lohmann Katja , Padmanabhan Shalini , Alessi Dario R. , Luo Wei , Tan Eng King , Sammler Esther , Tan Ai Huey 
Published: February 2025

Abstract

LRRK2-related Parkinson’s disease (LRRK2-PD) is the most frequent form of monogenic PD worldwide, with important therapeutic opportunities, exemplified by the advancement in LRRK2 kinase inhibition studies/trials. However, many LRRK2 variants, especially those found in underrepresented populations, remain classified as variants of uncertain significance (VUS). Leveraging on Malaysian, Singaporean, and mainland Chinese PD datasets (n = 4901), we describe 12 Chinese-ancestry patients harboring the LRRK2 p.Arg1067Gln variant, more than doubling the number of previously reported cases (total n = 23, 87% East Asian, mean age of onset: 53.9 years). We determine that this variant is enriched in East Asian PD patients compared to population controls (OR = 8.0, 95% CI: 3.0–20.9), and provide supportive data for its co-segregation with PD, albeit with incomplete penetrance. Utilizing established experimental workflows, this variant showed increased LRRK2 kinase activity, by ~2-fold compared to wildtype and higher than the p.Gly2019Ser variant. Taken together, p.Arg1067Gln should be reclassified from a VUS to pathogenic for causing LRRK2-PD.
A standardized lexicon of body odor words crafted from 17 countries
Authors: Bierling Antonie L. , Croy Alexander , Bilem Fatma , Bloy Leah , HO Fiona Yan-Yee , Jimenez Andres F. , Kyjaková Pavlína , Mastinu Mariano , Power Guerra Nicole , Sailer Uta , Schirmer Annett , Silva Edgardo C. , Surakka Veikko , Takau Lana , Thunell Evelina , Verma Kedarmal , Żyżelewicz Barbara R. , Majid Asifa , Croy Ilona 
Published: February 2025

Abstract
Body odors offer a unique window into the physiological and psychological profile of the emitter. This information, broadcast in nonverbal communication, significantly shapes social interactions. However, effectively digitizing body odors requires a precise framework for perceptual operationalization. Previous research has used a very limited number of verbal terms, such as pleasant, intense, or attractive, which fails to adequately capture qualitative differences. To address this gap, we elicited body odor descriptions from 2,607 participants across 17 countries and 13 languages. All these descriptions are presented here in one dataset, together with a condensed list of 25 body odor words (BOW). Those terms reliably differentiated between body states, and were validated in a separate study with a different group of 155 perceivers. The dataset, available as a web application, provides a novel operationalization of body odor impressions, which is a precondition for studying olfaction in human nonverbal communication, for perception-based digitization of body odors and for comparative studies.
Canopy height model and NAIP imagery pairs across CONUS
Authors: Allred Brady W. , McCord Sarah E. , Morford Scott L. 
Published: February 2025

Abstract
Canopy height models (CHM) provide detailed environmental vertical structure information and are an important indicator and input for ecological and geospatial applications. These models are often spatiotemporally inconsistent, necessitating additional modeling to scale them in space and time. Yet, such scaling is hindered by a lack of spatially diverse data. To address this, we use United States Geological Survey 3D Elevation Program lidar data to produce 22,796,764 one meter resolution CHM chips, stratified across the dominant land covers of the conterminous United States. For each CHM, we pair a matching time-aligned aerial image from the United States Department of Agriculture National Agriculture Imagery Program. This dataset can be used to train models for large scale CHM production.
Spatial recognition and semi-quantification of epigenetic events in pancreatic cancer subtypes with multiplexed molecular imaging and machine learning
Authors: Szymoński Krzysztof , Janiszewska Natalia , Sofińska Kamila , Skirlińska-Nosek Katarzyna , Lupa Dawid , Czaja Michał , Urbańska Marta , Jurkowska Katarzyna , Konik Kamila , Olszewska Marta , Adamek Dariusz , Awsiuk Kamil , Lipiec Ewelina 
Published: February 2025

Abstract
Genomic alterations are the driving force behind pancreatic cancer (PC) tumorigenesis, but they do not fully account for its diverse phenotypes. Investigating the epigenetic landscapes of PC offers a more comprehensive understanding and could identify targeted therapies that enhance patient survival. In this study, we have developed a new promising methodology of spatial epigenomics that integrates multiplexed molecular imaging with convolutional neural networks. Then, we used it to map epigenetic modification levels in the six most prevalent PC subtypes. We analyzed and semi-quantified the resulting molecular data, revealing significant variability in their epigenomes. DNA and histone modifications, specifically methylation and acetylation, were investigated. Using the same technique, we examined DNA conformational changes to further elucidate the transcriptional regulatory mechanisms involved in PC differentiation. Our results revealed that the foamy-gland and squamous-differentiated subtypes exhibited significantly increased global levels of epigenetic modifications and elevated Z-DNA ratios. Overall, our findings may suggest a potentially reduced efficacy of therapeutics targeting epigenetic regulators for these subtypes. Conversely, the conventional ductal PC subtype has emerged as a promising candidate for treatment with epigenetic modulators.
Multimodal machine learning to predict surgical site infection with healthcare workload impact assessment
Authors: McLean Kenneth A. , Sgrò Alessandro , Brown Leo R. , Buijs Louis F. , Mountain Katie E. , Shaw Catherine A. , Drake Thomas M. , Pius Riinu , Knight Stephen R. , Fairfield Cameron J. , Skipworth Richard J. E. , Tsaftaris Sotirios A. , Wigmore Stephen J. , Potter Mark A. , Bouamrane Matt-Mouley , Harrison Ewen M. ,   TWIST Collaborators, Baweja K. , Cambridge W. A. , Chauhan V. , Czyzykowska K. , Edirisooriya M. , Forsyth A. , Fox B. , Fretwell J. , Gent C. , Gherman A. , Green L. , Grewar J. , Heelan S. , Henshall D. , Iiuoma C. , Jayasangaran S. , Johnston C. , Kennedy E. , Kremel D. , Kung J. , Kwong J. , Leavy C. , Liu J. , Mackay S. , MacNamara A. , Mowitt S. , Musenga E. , Ng N. , Ng Z. H. , O’Neill S. , Ramage M. , Reed J. , Riad A. , Scott C. , Sehgal V. , Sgrò A. , Steven L. , Stutchfield B. , Tominey S. , Wilson W. , Wojtowicz M. , Yang J. 
Published: February 2025

Abstract
Remote monitoring is essential for healthcare digital transformation, however, this poses greater burdens on healthcare providers to review and respond as the data collected expands. This study developed a multimodal neural network to automate assessments of patient-generated data from remote postoperative wound monitoring. Two interventional studies including adult gastrointestinal surgery patients collected wound images and patient-reported outcome measures (PROMs) for 30-days postoperatively. Neural networks for PROMs and images were combined to predict surgical site infection (SSI) diagnosis within 48 h. The multimodal neural network model to predict confirmed SSI within 48 h remained comparable to clinician triage (0.762 [0.690–0.835] vs 0.777 [0.721–0.832]), with an excellent performance on external validation. Simulated usage indicated an 80% reduction in staff time (51.5 to 9.1 h) without compromising diagnostic accuracy. This multimodal approach can effectively support remote monitoring, alleviating provider burden while ensuring high-quality postoperative care.
Mechanisms of electrochemical hydrogenation of aromatic compound mixtures over a bimetallic PtRu catalyst
Authors: Catizane Cesar , Jiang Ying , Sumner Joy 
Published: February 2025

Abstract
Efficient electrochemical hydrogenation (ECH) of organic compounds is essential for sustainability, promoting chemical feedstock circularity and synthetic fuel production. This study investigates the ECH of benzoic acid, phenol, guaiacol, and their mixtures, key components in upgradeable oils, using a carbon-supported PtRu catalyst under varying initial concentrations, temperatures, and current densities. Phenol achieved the highest conversion (83.17%) with a 60% Faradaic efficiency (FE). In mixtures, benzoic acid + phenol yielded the best performance (64.19% conversion, 74% FE), indicating a synergistic effect. Notably, BA consistently exhibited 100% selectivity for cyclohexane carboxylic acid (CCA) across all conditions. Density functional theory (DFT) calculations revealed that parallel adsorption of BA on the cathode (−1.12 eV) is more stable than perpendicular positioning (-0.58 eV), explaining the high selectivity for CCA. These findings provide a foundation for future developments in ECH of real pyrolysis oil.
Ice core evidence for the Los Chocoyos supereruption disputes millennial-scale climate impact
Authors: Innes Helen M. , Hutchison William , Sigl Michael , Crick Laura , Abbott Peter M. , Bigler Matthias , Chellman Nathan J. , Davies Siwan M. , Kutterolf Steffen , McConnell Joseph R. , Severi Mirko , Sparks R. Stephen J. , Svensson Anders , Wolff Eric W. , Rae James W. B. , Burke Andrea 
Published: February 2025

Abstract
Volcanic supereruptions are considered among the few drivers of global and existential catastrophes, with recent hypotheses suggesting massive volcanic stratospheric sulfate injection could instigate major shifts in global climate. The absence of supereruptions during recent history as well as large uncertainties on eruption ages limits understanding of the climatic risk they impose. Polar ice cores have well-resolved continuous age models, record past temperature, and contain volcanic sulfate and cryptotephra deposits which can be geochemically fingerprinted to determine eruption timing and improve stratospheric sulfur loading estimates. Here, we provide an age of 79,500 years for the Atitlán Los Chocoyos supereruption, one of the largest Quaternary eruptions, by identifying tephra shards in ice cores from both Greenland and Antarctica. This ice core age is supported by a revised marine sediment core stratigraphy age for the Los Chocoyos ash layer. Through comparison with well-dated ice-core temperature proxy records, our study suggests that despite being one of the largest sulfur emissions recorded in ice cores, the Los Chocoyos supereruption did not trigger a millennial-scale cold period.
Application of decision analytic modelling to cardiovascular disease prevention in Sub-Saharan Africa: a systematic review
Authors: Oguta James Odhiambo , Breeze Penny , Wambiya Elvis , Kibe Peter , Akoth Catherine , Otieno Peter , Dodd Peter J. 
Published: February 2025

Abstract

Background
This systematic review sought to examine the application of decision analytic models (DAMs) to evaluate cardiovascular disease (CVD) prevention interventions in sub-Saharan Africa (SSA), a region that has experienced an increasing CVD burden in the last two decades.

Methods
We searched seven databases and identified model-based economic evaluations of interventions targeting CVD prevention among adult populations in SSA. All articles were screened by two reviewers, data was extracted, and narrative synthesis was performed. Quality assessment was performed using the Philips checklist.

Results
The review included 27 articles from eight SSA countries. The majority of the studies evaluated interventions for primary CVD prevention, with primordial prevention interventions being the least evaluated. Markov models were the most commonly used modelling method. Seven studies incorporated equity dimensions in the modelling, which were assessed mainly through subgroup analysis. The mean quality score of the papers was 68.9% and most studies reported data challenges while only three studies conducted model validation.

Conclusions
The review finds few studies modelling the impact of interventions targeting primordial prevention and those evaluating equitable strategies for improving access to CVD prevention. There is a need for increased transparency in model building, validation and documentation.
Post-discharge suicide prediction among US veterans using natural language processing-enriched social and behavioral determinants of health
Authors: Mitra Avijit , Chen Kun , Liu Weisong , Kessler Ronald C. , Yu Hong 
Published: February 2025

Abstract
Despite the established association between social and behavioral determinants of health (SBDH) and suicide risk, SBDHs from unstructured electronic health record notes for suicide prediction remain underutilized. This study investigates the impact of SBDH identified from both structured and unstructured data utilizing a natural language processing (NLP) system on suicide prediction at 7, 30, 90, and 180 days post-discharge. Using data from 2,987,006 US Veterans between 1 October 2009, and 30 September 2015, we designed a case-control study demonstrating that structured and NLP-extracted SBDH significantly enhance distinct prediction models’ performance. For example, the random forest model improved its 180-day post-discharge prediction with an area under the receiver operating characteristic curve increase from 83.57% to 84.25% (95% CI = 0.63%–0.98%, p val < 0.001) and area under the precision-recall curve increase from 57.38% to 59.87% (95% CI = 3.86%–4.82%, p val < 0.001) after integrating NLP-extracted SBDH. These findings underscore the potential of NLP-extracted SBDH in advancing suicide prediction.
Mimicking women’s endocrine milieu in mice for women’s health-related studies
Authors: Constantin Céline , Matvienko Daria , László Csaba , Scabia Valentina , Battista Laura , Binz Pierre-Alain , Bruce Stephen J. , Brisken Cathrin 
Published: February 2025

Abstract
To improve preclinical studies and their translation, patient-derived xenografts (PDXs) are increasingly used. They have human-specific tumor characteristics and reflect intra and inter-tumor heterogeneity. However, the endocrine milieu differs between humans and host mice. In light of sex-specific cancer biology and a rise in endocrine-related cancers there is an urgent need to correctly reflect the hormonal milieu in PDX models. We show that female mice of NOD.Cg-Prkdc

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/SzJ (NSG) strain widely used for PDXs has 17-β-estradiol (E2) and testosterone (T) levels comparable to C57Bl6 females but higher progesterone (P4) levels. E2 levels are comparable, T levels are lower and P4 levels higher than those observed in postmenopausal women. Ovariectomy increases T to levels observed in postmenopausal women. Subcutaneous E2 and combined E2/P4 silicon pellets provide NSG females with premenopausal ovarian hormone levels. These procedures humanize the endocrine environment of experimental animals, improving PDX relevance in women’s health-related research.
Recruitment of apolipoprotein E facilitates Herpes simplex virus 1 attachment and release
Authors: Liu Lifeng , Bano Fouzia , Conca Dario Valter , Thorsteinsson Konrad , Jayaweera Sanduni Wasana , Avinens Damien , Pace Hudson , Lövheim Hugo , Olofsson Anders , Bally Marta 
Published: February 2025

Abstract
Human apolipoprotein E (ApoE) has been shown to play important roles during primary infection and pathogenesis of several viruses. Furthermore, epidemiological studies suggest that interactions between ApoE 4 and herpes simplex virus type-1 (HSV1) could associate with higher risk of Alzheimer’s disease. Nevertheless, little is known about the ApoE-HSV1 interactions at molecular levels. Here, we investigate the effects of ApoE on HSV1 infection in vitro. Our results show that ApoE promotes HSV1 growth, which is attributed to the incorporation of ApoE into HSV1 particles. Using both biological and biophysical approaches, we conclude that ApoE-coated HSV1 demonstrates a more efficient attachment to and faster release from the cell surface. Mechanistic studies reveal that ApoE modifies HSV1 interactions with heparan sulfate, thereby modulating interactions between HSV1 and the cell surface. Overall, our results provide new insights into the roles of ApoE during HSV1 infections which may inspire future studies on Alzheimer’s disease etiology.
Categorization Method of Power Supply Quality Events Using Rule‐Based Decision Trees, Combining Traditional Indices With Higher‐Order Statistics
Authors: Remigio‐Carmona Paula , Florencias‐Oliveros Olivia , González‐de‐la‐Rosa Juan‐José 
Published: February 2025

ABSTRACTThis letter presents a novel method for power quality event detection using higher‐order statistical indicators and rule‐based decision trees. The method achieves up to 90% efficiency in the most challenging cases and excels in hybrid event classification, increasingly common in modern grids. Its simplicity enables fast execution and real‐time applicability, making it a robust complement to traditional visualization tools.
Leitlinien-Update: phänotypbasiertes Management der Kardiomyopathie
Authors: Amr Ali , Frey Norbert , Meder Benjamin 
Published: February 2025

Was ist neu?Die Leitlinien bieten aktualisierte Klassifikationen für die dilatierte und nicht dilatierte linksventrikuläre (LV) Kardiomyopathie, wobei besonderer Wert auf die Bedeutung der kardialen Magnetresonanztomografie (CMR: Cardiovascular Magnetic Resonance) zur Beurteilung des Myokards gelegt wird.Es wird ein besonderer Fokus auf den klinischen Verlauf gelegt, von der Erstvorstellung über die Diagnose, bis hin zum Management, wobei die Notwendigkeit eines systematischen, multiparametrischen Ansatzes zur Identifizierung der zugrundeliegenden Ursache der Kardiomyopathie betont wird. Neue Empfehlungen heben die Bedeutung des klinischen und genetischen Kaskaden-Screenings für Familienmitglieder von Personen mit Kardiomyopathie hervor.Die Leitlinien betonen die Notwendigkeit einer kontinuierlichen Versorgung – beginnend in der Kindheit bis ins Erwachsenenalter, insbesondere während wichtiger Übergangsphasen – und behandeln die verschiedenen klinischen Stadien der Kardiomyopathien (z.B. subklinisch, symptomatisch erkrankt, Endstadium).Die Leitlinien betonen die Bedeutung eines multidisziplinären Ansatzes, der die Einbeziehung verschiedener Fachrichtungen und die Einbindung der Familie in den Behandlungsprozess vorsieht.Es werden neue Richtlinien zur Risikobewertung für SCD bei verschiedenen Kardiomyopathie-Phänotypen gegeben, einschließlich Empfehlungen für pädiatrische Populationen, mit einem Schwerpunkt bezüglich genetischer Faktoren bei der Risikobewertung.Aktualisierte Empfehlungen zum Management von LVOTO, einer häufigen Manifestation der HCM.Die Taskforce empfiehlt, den Begriff „Hypertrabekularisierung“ statt LVNC zu verwenden und das Takotsubo-Syndrom nicht als Kardiomyopathie zu klassifizieren, da es sich dabei meist um vorübergehende Phänomene handelt.
Pneumokokkensepsis 2015–2022: Überlegungen zu Impfstrategien
Authors: Hof Herbert , Singer Sabine , Steiner Ika , Bertsch Daniela , Kirstahler Maria , Oberdorfer Klaus , Imöhl Matthias , van der Linden Mark 
Published: February 2025

ZusammenfassungObwohl Impfstoffe zur Verfügung stehen, ist die Häufigkeit von Sepsisfällen mit Streptococcus pneumoniae immer noch recht hoch.In den Jahren von 2015–2022 wurden bei 925 in unserem Labor untersuchten Blutkulturen Streptococcus pneumoniae nachgewiesen. Von einem Großteil, nämlich von 754 Stämmen, wurde der Serotyp bestimmt. Außerdem wurde deren in-vitro-Empfindlichkeit gegen einige Antibiotika getestet.Die Isolate stammten überwiegend von älteren Menschen (>60 Jahre), und zwar häufiger von Männern als von Frauen. In den Jahren 2020 und 2021 wurden deutlich weniger Fälle von Pneumokokken-Sepsis verzeichnet, was vermutlich auf den nicht pharmazeutischen Maßnahmen zur Prävention aerogen übertragener Infektionen während der Coronapandemie (Schutzmasken, Abstand halten) beruht. Kinder im Alter bis zu einem Jahr waren auch relativ anfällig. Die Serotypen 3 und 8 dominierten. In dem 20-valenten Konjugat-Impfstoff waren 67% der gefundenen Serotypen enthalten und 75% in dem reinen Polysaccharid-Impfstoff. Die überwiegende Mehrzahl der Isolate war gegen Penicillin, Erythromycin und auch gegen Doxycyclin empfindlich. Multi-drug-resistente Stämme wurden nicht beobachtet.Eine Impfung hätte einen Großteil der Infektionen vermutlich verhindern können. Zu beachten ist jedoch, dass immerhin 27% der gefundenen Serotypen in keinem der angebotenen Impfstoffe enthalten sind.
A Comparison of Three Different Surgical Treatments in Late Stage Kienböck's Disease
Authors: Özdemir Ferdi , Özdeş Hüseyin Utku , Karakaplan Mustafa , Ergen Emre , Aslantürk Okan , Balıkçı Çiçek İpek , Ertem Kadir 
Published: February 2025

Abstract
Objective Different treatment options exist for the late-stage Kienböck disease (KD). The functional outcomes of patients undergoing scaphocapitate fusion (SCF), tendon ball arthroplasty (TBA), and radius metaphyseal core decompression in stages 3 to 4 KD were investigated.
Materials and Methods This is a retrospective study spanning ∼11 years, conducted at our clinic, involving the operated patient KD. The study included 51 patients with an average follow-up duration of 68 months (range: 16–130 months). Patients who underwent SCF, TBA, and radius metaphyseal core decompression were divided into three groups based on the surgical approach. The range of motion of the wrist joint and grip strength of the operated wrists were assessed alongside the unaffected wrist during follow-up evaluations. Satisfaction levels among patients were measured by comparing groups internally and based on disease stages. Functional outcomes were evaluated using quick disabilities of the arm, shoulder, and hand (Q-DASH) and Mayo wrist scoring scales.
Results Of the patients, 28 were female (54.9%) and 23 were male (45.1%). The mean age was 34 years (range: 19–62 years). There were 12 patients (23.53%) in the radial decompression group, 10 patients (19.61%) in the SCF group, and 29 patients (56.86%) in the TBA group. When the wrist joint Range of motion (ROM)s are analyzed, the losses in both stages 3A and 3B disease are significant compared with the intact wrist in all three surgical methods. When the groups were compared, a higher loss of wrist joint ROM was observed in the TBA group, especially in Kienböck stage 3B patients (p < 0.001). Furthermore, there were no differences between patient scores in stage 3A when assessments were made using Q-DASH and Mayo scores (p = 0.156 for Q-DASH and p = 0.060 for Mayo). In stage 3B, Mayo's results were similar, while the radial decompression group was reported to be more favorable in terms of Q-DASH scores (p = 0.035).
Conclusion KD is surgically treated with various operations identified. In terms of functional outcomes, all three surgeries are considered satisfactory. However, in young and active patients, even in advanced stages of the disease, metaphyseal core decompression should be attempted as an initial treatment due to its easier approach and the avoidance of direct manipulation of the carpus.