bluuebunny/crossref_metadata_2025_split huggingface dataset:
Polygenic risk for major depression, attention deficit hyperactivity disorder, neuroticism, and schizophrenia are correlated with experience of intimate partner violence
Authors: Ratanatharathorn Andrew , Quan Luwei , Koenen Karestan C. , Chibnik Lori B. , Weisskopf Marc G. , Slopen Natalie , Roberts Andrea L. 
Published: February 2024

AbstractResearch has suggested that mental illness may be a risk factor for, as well as a sequela of, experiencing intimate partner violence (IPV). The association between IPV and mental illness may also be due in part to gene-environment correlations. Using polygenic risk scores for six psychiatric disorders - attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BPD), major depressive disorder (MDD), neuroticism, and schizophrenia—and a combined measure of overall genetic risk for mental illness, we tested whether women’s genetic risk for mental illness was associated with the experience of three types of intimate partner violence. In this cohort of women of European ancestry (N = 11,095), participants in the highest quintile of genetic risk for ADHD (OR range: 1.38–1.49), MDD (OR range: 1.28–1.43), neuroticism (OR range: (1.18–1.25), schizophrenia (OR range: 1.30–1.34), and overall genetic risk (OR range: 1.30–1.41) were at higher risk for experiencing more severe emotional and physical abuse, and, except schizophrenia, more severe sexual abuse, as well as more types of abuse and chronic abuse. In addition, participants in the highest quintile of genetic risk for neuroticism (OR = 1.43 95% CI: 1.18, 1.72), schizophrenia (OR = 1.33 95% CI: 1.10, 1.62), and the overall genetic risk (OR = 1.40 95% CI: 1.15, 1.71) were at higher risk for experiencing intimate partner intimidation and control. Participants in the highest quintile of genetic risk for ADHD, ASD, MDD, schizophrenia, and overall genetic risk, compared to the lowest quintile, were at increased risk for experiencing harassment from a partner (OR range: 1.22–1.92). No associations were found between genetic risk for BPD with IPV. A better understanding of the salience of the multiple possible pathways linking genetic risk for mental illness with risk for IPV may aid in preventing IPV victimization or re-victimization.
Selective alterations of endocannabinoid system genes expression in obsessive compulsive disorder
Authors: Bellia Fabio , Girella Antonio , Annunzi Eugenia , Benatti Beatrice , Vismara Matteo , Priori Alberto , Festucci Fabiana , Fanti Federico , Compagnone Dario , Adriani Walter , Dell’Osso Bernardo , D’Addario Claudio 
Published: February 2024

AbstractObsessive Compulsive Disorder (OCD) is listed as one of the top 10 most disabling neuropsychiatric conditions in the world. The neurobiology of OCD has not been completely understood and efforts are needed in order to develop new treatments. Beside the classical neurotransmitter systems and signalling pathways implicated in OCD, the possible involvement of the endocannabinoid system (ECS) has emerged in pathophysiology of OCD. We report here selective downregulation of the genes coding for enzymes allowing the synthesis of the endocannabinoids. We found reduced DAGLα and NAPE-PLD in blood samples of individuals with OCD (when compared to healthy controls) as well as in the amygdala complex and prefrontal cortex of dopamine transporter (DAT) heterozygous rats, manifesting compulsive behaviours. Also mRNA levels of the genes coding for cannabinoid receptors type 1 and type 2 resulted downregulated, respectively in the rat amygdala and in human blood. Moreover, NAPE-PLD changes in gene expression resulted to be associated with an increase in DNA methylation at gene promoter, and the modulation of this gene in OCD appears to be correlated to the progression of the disease. Finally, the alterations observed in ECS genes expression appears to be correlated with the modulation in oxytocin receptor gene expression, consistently with what recently reported. Overall, we confirm here a role for ECS in OCD at both preclinical and clinical level. Many potential biomarkers are suggested among its components, in particular NAPE-PLD, that might be of help for a prompt and clear diagnosis.
Risk of cancer and serious disease in Danish patients with urgent referral for serious non-specific symptoms and signs of cancer in Funen 2014–2021
Authors: Grønnemose Rasmus Birkholm , Hansen Per Syrak , Worsøe Laursen Søren , Gerke Oke , Kjellberg Jakob , Lykkegaard Jesper , Thye-Rønn Clara , Høilund-Carlsen Poul Flemming , Thye-Rønn Peter 
Published: February 2024

Abstract
Background
In 2011, as the first European country, Denmark introduced the non-organ-specific cancer patient pathway (CPP) for patients presenting with non-specific symptoms and signs of cancer (NSSC). The proportion of patients with cancer over time is unknown.

Methods
A retrospective cohort study of all patients with a NSSC-CPP investigational course in the province of Funen to the Diagnostic Centre in Svendborg from 2014 to 2021 was performed to evaluate the proportion of patients with cancer and serious disease over time.

Results
A total of 6698 patients were referred to the NSSC-CPP of which 20.2% had cancer. While the crude referral rate increased from 114 per 100,000 people in 2014 and stabilised to around 214 in 2017–2021, the cancer detection rate of the total yearly new cancers in Funen diagnosed through the NSSC-CPP in DC Svendborg increased from 3 to 6%.

Conclusions
With now high and stable conversion and crude referral rates, the NSSC-CPP is one of the largest CPPs in Denmark as measured by the number of new cancer cases found. Similar urgent referral programmes in other countries might fill an unmet medical need for patients presenting with serious non-specific symptoms and signs of cancer in general practice.
Homochiral antiferromagnetic merons, antimerons and bimerons realized in synthetic antiferromagnets
Authors: Bhukta Mona , Dohi Takaaki , Bharadwaj Venkata Krishna , Zarzuela Ricardo , Syskaki Maria-Andromachi , Foerster Michael , Niño Miguel Angel , Sinova Jairo , Frömter Robert , Kläui Mathias 
Published: February 2024

AbstractThe ever-growing demand for device miniaturization and energy efficiency in data storage and computing technology has prompted a shift towards antiferromagnetic topological spin textures as information carriers. This shift is primarily owing to their negligible stray fields, leading to higher possible device density and potentially ultrafast dynamics. We realize in this work such chiral in-plane topological antiferromagnetic spin textures namely merons, antimerons, and bimerons in synthetic antiferromagnets by concurrently engineering the effective perpendicular magnetic anisotropy, the interlayer exchange coupling, and the magnetic compensation ratio. We demonstrate multimodal vector imaging of the three-dimensional Néel order parameter, revealing the topology of those spin textures and a globally well-defined chirality, which is a crucial requirement for controlled current-induced dynamics. Our analysis reveals that the interplay between interlayer exchange and interlayer magnetic dipolar interactions plays a key role to significantly reduce the critical strength of the Dzyaloshinskii-Moriya interaction required to stabilize topological spin textures, such as antiferromagnetic merons, in synthetic antiferromagnets, making them a promising platform for next-generation spintronics applications.
Modern anthropogenic drought in Central Brazil unprecedented during last 700 years
Authors: Stríkis Nicolas Misailidis , Buarque Plácido Fabrício Silva Melo , Cruz Francisco William , Bernal Juan Pablo , Vuille Mathias , Tejedor Ernesto , Santos Matheus Simões , Shimizu Marília Harumi , Ampuero Angela , Du Wenjing , Sampaio Gilvan , Sales Hamilton dos Reis , Campos José Leandro , Kayano Mary Toshie , Apaèstegui James , Fu Roger R. , Cheng Hai , Edwards R. Lawrence , Mayta Victor Chavez , Francischini Danielle da Silva , Arruda Marco Aurélio Zezzi , Novello Valdir Felipe 
Published: February 2024

AbstractA better understanding of the relative roles of internal climate variability and external contributions, from both natural (solar, volcanic) and anthropogenic greenhouse gas forcing, is important to better project future hydrologic changes. Changes in the evaporative demand play a central role in this context, particularly in tropical areas characterized by high precipitation seasonality, such as the tropical savannah and semi-desertic biomes. Here we present a set of geochemical proxies in speleothems from a well-ventilated cave located in central-eastern Brazil which shows that the evaporative demand is no longer being met by precipitation, leading to a hydrological deficit. A marked change in the hydrologic balance in central-eastern Brazil, caused by a severe warming trend, can be identified, starting in the 1970s. Our findings show that the current aridity has no analog over the last 720 years. A detection and attribution study indicates that this trend is mostly driven by anthropogenic forcing and cannot be explained by natural factors alone. These results reinforce the premise of a severe long-term drought in the subtropics of eastern South America that will likely be further exacerbated in the future given its apparent connection to increased greenhouse gas emissions.
All-in-one, all-optical logic gates using liquid metal plasmon nonlinearity
Authors: Xu Jinlong , Zhang Chi , Wang Yulin , Wang Mudong , Xu Yanming , Wei Tianqi , Xie Zhenda , Liu Shiqiang , Lee Chao-Kuei , Hu Xiaopeng , Zhao Gang , Lv Xinjie , Zhang Han , Zhu Shining , Zhou Lin 
Published: February 2024

AbstractElectronic processors are reaching the physical speed ceiling that heralds the era of optical processors. Multifunctional all-optical logic gates (AOLGs) of massively parallel processing are of great importance for large-scale integrated optical processors with speed far in excess of electronics, while are rather challenging due to limited operation bandwidth and multifunctional integration complexity. Here we for the first time experimentally demonstrate a reconfigurable all-in-one broadband AOLG that achieves nine fundamental Boolean logics in a single configuration, enabled by ultrabroadband (400–4000 nm) plasmon-enhanced thermo-optical nonlinearity (TONL) of liquid-metal Galinstan nanodroplet assemblies (GNAs). Due to the unique heterogeneity (broad-range geometry sizes, morphology, assembly profiles), the prepared GNAs exhibit broadband plasmonic opto-thermal effects (hybridization, local heating, energy transfer, etc.), resulting in a huge nonlinear refractive index under the order of 10−4−10−5 within visual-infrared range. Furthermore, a generalized control-signal light route is proposed for the dynamic TONL modulation of reversible spatial-phase shift, based on which nine logic functions are reconfigurable in one single AOLG configuration. Our work will provide a powerful strategy on large-bandwidth all-optical circuits for high-density data processing in the future.
Intestinal stroma guides monocyte differentiation to macrophages through GM-CSF
Authors: Kvedaraite Egle , Lourda Magda , Mouratidou Natalia , Düking Tim , Padhi Avinash , Moll Kirsten , Czarnewski Paulo , Sinha Indranil , Xagoraris Ioanna , Kokkinou Efthymia , Damdimopoulos Anastasios , Weigel Whitney , Hartwig Olga , Santos Telma E. , Soini Tea , Van Acker Aline , Rahkonen Nelly , Flodström Tullberg Malin , Ringqvist Emma , Buggert Marcus , Jorns Carl , Lindforss Ulrik , Nordenvall Caroline , Stamper Christopher T. , Unnersjö-Jess David , Akber Mira , Nadisauskaite Ruta , Jansson Jessica , Vandamme Niels , Sorini Chiara , Grundeken Marijke Elise , Rolandsdotter Helena , Rassidakis George , Villablanca Eduardo J. , Ideström Maja , Eulitz Stefan , Arnell Henrik , Mjösberg Jenny , Henter Jan-Inge , Svensson Mattias 
Published: February 2024

AbstractStromal cells support epithelial cell and immune cell homeostasis and play an important role in inflammatory bowel disease (IBD) pathogenesis. Here, we quantify the stromal response to inflammation in pediatric IBD and reveal subset-specific inflammatory responses across colon segments and intestinal layers. Using data from a murine dynamic gut injury model and human ex vivo transcriptomic, protein and spatial analyses, we report that PDGFRA+CD142−/low fibroblasts and monocytes/macrophages co-localize in the intestine. In primary human fibroblast-monocyte co-cultures, intestinal PDGFRA+CD142−/low fibroblasts foster monocyte transition to CCR2+CD206+ macrophages through granulocyte-macrophage colony-stimulating factor (GM-CSF). Monocyte-derived CCR2+CD206+ cells from co-cultures have a phenotype similar to intestinal CCR2+CD206+ macrophages from newly diagnosed pediatric IBD patients, with high levels of PD-L1 and low levels of GM-CSF receptor. The study describes subset-specific changes in stromal responses to inflammation and suggests that the intestinal stroma guides intestinal macrophage differentiation.
Serum amyloid A promotes glycolysis of neutrophils during PD-1 blockade resistance in hepatocellular carcinoma
Authors: He Meng , Liu Yongxiang , Chen Song , Deng Haijing , Feng Cheng , Qiao Shuang , Chen Qifeng , Hu Yue , Chen Huiming , Wang Xun , Jiang Xiongying , Xia Xiaojun , Zhao Ming , Lyu Ning 
Published: February 2024

AbstractThe response to programmed death-1 (PD-1) blockade varies in hepatocellular carcinoma (HCC). We utilize a panel of 16 serum factors to show that a circulating level of serum amyloid A (SAA) > 20.0 mg/L has the highest accuracy in predicting anti-PD-1 resistance in HCC. Further experiments show a correlation between peritumoral SAA expression and circulating SAA levels in patients with progressive disease after PD-1 inhibition. In vitro experiments demonstrate that SAA induces neutrophils to express PD-L1 through glycolytic activation via an LDHA/STAT3 pathway and to release oncostatin M, thereby attenuating cytotoxic T cell function. In vivo, genetic or pharmacological inhibition of STAT3 or SAA eliminates neutrophil-mediated immunosuppression and enhances antitumor efficacy of anti-PD-1 treatment. This study indicates that SAA may be a critical inflammatory cytokine implicated in anti-PD-1 resistance in HCC. Targeting SAA-induced PD-L1+ neutrophils through STAT3 or SAA inhibition may present a potential approach for overcoming anti-PD1 resistance.
Nanocurvature-induced field effects enable control over the activity of single-atom electrocatalysts
Authors: Wang Bingqing , Wang Meng , Fan Ziting , Ma Chao , Xi Shibo , Chang Lo‐Yueh , Zhang Mingsheng , Ling Ning , Mi Ziyu , Chen Shenghua , Leow Wan Ru , Zhang Jia , Wang Dingsheng , Lum Yanwei 
Published: February 2024

AbstractTuning interfacial electric fields provides a powerful means to control electrocatalyst activity. Importantly, electric fields can modify adsorbate binding energies based on their polarizability and dipole moment, and hence operate independently of scaling relations that fundamentally limit performance. However, implementation of such a strategy remains challenging because typical methods modify the electric field non-uniformly and affects only a minority of active sites. Here we discover that uniformly tunable electric field modulation can be achieved using a model system of single-atom catalysts (SACs). These consist of M-N4 active sites hosted on a series of spherical carbon supports with varying degrees of nanocurvature. Using in-situ Raman spectroscopy with a Stark shift reporter, we demonstrate that a larger nanocurvature induces a stronger electric field. We show that this strategy is effective over a broad range of SAC systems and electrocatalytic reactions. For instance, Ni SACs with optimized nanocurvature achieved a high CO partial current density of ~400 mA cm−2 at >99% Faradaic efficiency for CO2 reduction in acidic media.
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
Authors: Wigby Kristen M. , Brockman Deanna , Costain Gregory , Hale Caitlin , Taylor Stacie L. , Belmont John , Bick David , Dimmock David , Fernbach Susan , Greally John , Jobanputra Vaidehi , Kulkarni Shashikant , Spiteri Elizabeth , Taft Ryan J. 
Published: February 2024

AbstractEarly use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain about which patient populations are most amenable to GS as a first-line diagnostic test. To address this, the Medical Genome Initiative conducted a literature review to identify appropriate clinical indications for GS. Studies published from January 2011 to August 2022 that reported on the diagnostic yield (DY) or clinical utility of GS were included. An exploratory meta-analysis using a random effects model evaluated DY based on cohort size and diagnosed cases per cohort. Seventy-one studies met inclusion criteria, comprising over 13,000 patients who received GS in one of the following settings: hospitalized pediatric patients, pediatric outpatients, adult outpatients, or mixed. GS was the first-line test in 38% (27/71). The unweighted mean DY of first-line GS was 45% (12–73%), 33% (6–86%) in cohorts with prior genetic testing, and 33% (9–60%) in exome-negative cohorts. Clinical utility was reported in 81% of first-line GS studies in hospitalized pediatric patients. Changes in management varied by cohort and underlying molecular diagnosis (24–100%). To develop evidence-informed points to consider, the quality of all 71 studies was assessed using modified American College of Radiology (ACR) criteria, with five core points to consider developed, including recommendations for use of GS in the N/PICU, in lieu of sequential testing and when disorders with substantial allelic heterogeneity are suspected. Future large and controlled studies in the pediatric and adult populations may support further refinement of these recommendations.
Exploiting macro- and micro-structural brain changes for improved Parkinson’s disease classification from MRI data
Authors: Camacho Milton , Wilms Matthias , Almgren Hannes , Amador Kimberly , Camicioli Richard , Ismail Zahinoor , Monchi Oury , Forkert Nils D. ,   For the Alzheimer’s Disease Neuroimaging Initiative
Published: February 2024

AbstractParkinson’s disease (PD) is the second most common neurodegenerative disease. Accurate PD diagnosis is crucial for effective treatment and prognosis but can be challenging, especially at early disease stages. This study aimed to develop and evaluate an explainable deep learning model for PD classification from multimodal neuroimaging data. The model was trained using one of the largest collections of T1-weighted and diffusion-tensor magnetic resonance imaging (MRI) datasets. A total of 1264 datasets from eight different studies were collected, including 611 PD patients and 653 healthy controls (HC). These datasets were pre-processed and non-linearly registered to the MNI PD25 atlas. Six imaging maps describing the macro- and micro-structural integrity of brain tissues complemented with age and sex parameters were used to train a convolutional neural network (CNN) to classify PD/HC subjects. Explainability of the model’s decision-making was achieved using SmoothGrad saliency maps, highlighting important brain regions. The CNN was trained using a 75%/10%/15% train/validation/test split stratified by diagnosis, sex, age, and study, achieving a ROC-AUC of 0.89, accuracy of 80.8%, specificity of 82.4%, and sensitivity of 79.1% on the test set. Saliency maps revealed that diffusion tensor imaging data, especially fractional anisotropy, was more important for the classification than T1-weighted data, highlighting subcortical regions such as the brainstem, thalamus, amygdala, hippocampus, and cortical areas. The proposed model, trained on a large multimodal MRI database, can classify PD patients and HC subjects with high accuracy and clinically reasonable explanations, suggesting that micro-structural brain changes play an essential role in the disease course.
Cerebellar interpositus nucleus exhibits time-dependent errors and predictive responses
Authors: Parras Gloria G. , Delgado-García José M. , López-Ramos Juan Carlos , Gruart Agnès , Leal-Campanario Rocío 
Published: February 2024

AbstractLearning is a functional state of the brain that should be understood as a continuous process, rather than being restricted to the very moment of its acquisition, storage, or retrieval. The cerebellum operates by comparing predicted states with actual states, learning from errors, and updating its internal representation to minimize errors. In this regard, we studied cerebellar interpositus nucleus (IPn) functional capabilities by recording its unitary activity in behaving rabbits during an associative learning task: the classical conditioning of eyelid responses. We recorded IPn neurons in rabbits during classical eyeblink conditioning using a delay paradigm. We found that IPn neurons reduce error signals across conditioning sessions, simultaneously increasing and transmitting spikes before the onset of the unconditioned stimulus. Thus, IPn neurons generate predictions that optimize in time and shape the conditioned eyeblink response. Our results are consistent with the idea that the cerebellum works under Bayesian rules updating the weights using the previous history.
The multiscale nexus among land use-land cover changes and water quality in the Suquía River Basin, a semi-arid region of Argentina
Authors: Paná Sofía , Marinelli M. Victoria , Bonansea Matías , Ferral Anabella , Valente Donatella , Camacho Valdez Vera , Petrosillo Irene 
Published: February 2024

AbstractAgricultural intensification and urban sprawl have led to significant alterations in riverscapes, and one of the critical consequences is the deterioration of water quality with significant implications for public health. Therefore, the objectives of this study were the assessment of the water quality of the Suquía River, the assessment of LULC change at different spatial scales, and the analysis of the potential seasonal correlation among LULC change and Water Quality Index (WQI). The Sample Sites (SS) 1 and 2 before Cordoba city had the highest WQI values while from SS3 the WQI decreased, with the lowest WQI close to the wastewater treatment plant (SS7) after Cordoba city. From SS8 in a agricultural context, the WQI increases but does not reach the original values. In light of analysis carried out, the correlation between water quality variables and the different LULC classes at the local and regional scales demonstrated that WQI is negatively affected by agricultural and urban activities, while natural classes impacted positively. The spatialization of the results can help strongly in assessing and managing the diffusion of point and non-point pollution along the riverscape. The knowledge gained from this research can play a crucial role in water resources management, which supports the provision of river ecosystem services essential for the well-being of local populations.