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The Iberian Roma Population Variant Server(IRPVS)

Journal of Genetics and Genomics 2024年第7期51卷 769-773页

作者： fabiola Mavillard Javier Perez-florido francisco M.Ortuño Amador Valladares Miren L.Álvarez-Villegas Gema Roldán Rosario Carmona Manuel Soriano Santiago Susarte Pilar fuentes Daniel López-López Ana María Nuñez-Negrillo Alejandra Carvajal Yolanda Morgado Daniel Arteaga Rosa Ufano Pablo Mir juan f.gamella Joaquín Dopazo Carmen Paradas Macarena Cabrera-Serrano Instituto de Biomedicina de Sevilla(IBiS) Hospital Universitario Virgen del Rocío/CSIC/Universidad de SevillaSevillaSpain Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas(CIBERNED) Instituto de Salud CarlosⅢSevillaSpain Plataforma Andaluza de Medicina Computacional Fundación Progreso y Salud(FPS)Hospital Virgen del RocíoSevillaSpain Grupo de medicina computacional de sistemas Instituto de Biomedicina de Sevilla(IBiS)Hospital Virgen del RocíoSevillaSpain Nodo de Genómica funcional (INB-ELIXIR-es)Fundación Progreso y Salud(FPS)Hospital Virgen del RocíoSevilla 41013Spain Bioinformática en Enfermedades raras(BiER) Centro de Investigación Biomédica en Red de Enfermedades Raras(CIBERER)Instituto de salud CarlosⅢSevillaSpain Departamento de Ingeniería de Computadores Automática y RobóticaUniversidad de GranadaGranadaSpain Servicio de Urgencias de Atención Primaria Distrito SevillaSevillaSpain Centro de Servicios Sociales Negociado de Servicios EspecializadosAyuntamiento de SevillaSevillaSpain Departamento de Enfermería Facultad de Ciencias de la SaludUniversidad de GranadaGranadaSpain Departamento de Neurología Hospital Virgen de las NievesGranadaSpain Departamento de Neurología Hospital Virgen de ValmeSevillaSpain Centro de Salud Utrera Sur SevillaSpain Centro de Salud Polígono Sur SevillaSpain Unidad de Trastornos del Movimiento Servicio de Neurología y Neurofisiología ClínicaHospital Universitario Virgen del RocíoSevillaSpain Departamento de Medicina Facultad de MedicinaUniversidad de SevillaSevilleSpain Departamento de Antropología Social Universidad de GranadaSpain Unidad Enfermedades Neuromusculares Servicio de Neurología y Neurofisiología ClínicaHospital Universitario Virgen del RocíoSevillaSpain

In recent years,the number of known disease genes has exponentially grown due to the widespread adoption of cost-effective massive parallel *** identify new disease variants,especially in monogenic disorders,a frequen... 详细信息

关键词： Server filtering massive

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failure to Rescue as a Quality Metric in Congenital Heart Surgeries in a High-Complexity Service Provider Institution Located in a Middle-Income Country

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Congenital Heart Disease 2024年第2期19卷 207-218页

作者： Gustavo Cruz Santiago Pedroza juan f.Vélez Jessica Largo juan f.Tejada Jorge H.Mejía-Mantilla Departamento de Anestesiología Fundación Valle del LiliCali760032Colombia Centro de Investigaciones Clínicas Fundación Valle del LiliCali760032Colombia Departamento de Cardiología Pediátrica Fundación Valle del LiliCali760032Colombia facultad de Medicina Universidad IcesiCali760031Colombia Unidad de Cuidado Intensivo Fundación Valle del LiliCali760032Colombia

Background:failure to rescue has been an effective quality metric in congenital heart ***,mor-bidity and mortality depend greatly on non-modifiable individual factors and have a weak correlation with better-quality *** aim to measure the complications,mortality,and risk factors in pediatric patients undergoing congenital heart surgery in a high-complexity institution located in a middle-income country and compare it with other institutions that have conducted a similar ***:A retrospective observational study was conducted in a high-complexity service provider institution,in Cali,*** pediatric patients undergoing any congenital heart surgery between 2019 and 2022 were *** main outcomes evaluated in the study were complication,mortality,and failure to rescue *** and multivariate logistic regression analysis was performed with mortality as the outcome ***:We evaluated 308 congenital heart *** the outcomes,201(65%)complications occurred,23(7.5%)patients died,and the fTR of the entire cohort was 11.4%.The presence of a postoperative complication(OR 14.88,CI 3.06–268.37,p=0.009),age(OR 0.79,CI 0.57–0.96,p=0.068),and urgent/emergent surgery(OR 8.14,CI 2.97–28.66,pficant variables in predicting ***:failure to rescue is an effective and comparable quality measure in healthcare institutions and is the major contributor to postoperative mortality in congenital heart *** our higher mortality and complication rate,we obtained a comparable failure to rescue rate to high-income countries’health institutions.

关键词： Congenital heart surgery complication mortality failure to rescue quality metric

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Attractor for the Extensible Beam Equation with Nonlocal Weak Damping on Time–Dependent Space

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Acta Mathematica Sinica,English Series 2024年第4期40卷 1115-1126页

作者： Chun Xiang ZHAO feng juan MENG Institute of Applied System Analysis Jiangsu UniversityZhenjiang 212013P.R.China School of Mathematics and Physics Jiangsu University of TechnologyChangzhou 213001P.R.China

In this article,we consider the long-time behavior of extensible beams with nonlocal weak damping:ε(t)u_(tt)+Δ^(2)u-m(‖▽u‖^(2))Δu+‖u_(t)‖^(p_(u_(t)))+f(u)=h,whereε(t)is a decreasing function vanishing at *** the theory of process on time-dependent spaces,we investigate the existence of the time-dependent attractor by using the Condition(C_(t))method and more detailed *** results obtained essentially improve and complete some previous works.

关键词： Time-dependent attractor extensible beams equation nonlocal weak damping

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E2E-MfERC:AMulti-face Expression Recognition Model for Group Emotion Assessment

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Computers, Materials & Continua 2024年第4期79卷 1105-1135页

作者： Lin Wang juan Zhao Hu Song Xiaolong Xu Jiangsu Key Laboratory of Big Data Security&Intelligent Processing Nanjing University of Posts and TelecommunicationsNanjing210042China School of Network Security Jinling Institute of TechnologyNanjing211169China State Grid Jiangsu Electric Power Company Limited Nanjing210000China School of Computer Science Nanjing University of Posts and TelecommunicationsNanjing210042China

In smart classrooms, conducting multi-face expression recognition based on existing hardware devices to assessstudents’ group emotions can provide educators with more comprehensive and intuitive classroom effect analysis,thereby continuouslypromotingthe improvementof teaching ***,most existingmulti-face expressionrecognition methods adopt a multi-stage approach, with an overall complex process, poor real-time performance,and insufficient generalization ability. In addition, the existing facial expression datasets are mostly single faceimages, which are of low quality and lack specificity, also restricting the development of this research. This paperaims to propose an end-to-end high-performance multi-face expression recognition algorithm model suitable forsmart classrooms, construct a high-quality multi-face expression dataset to support algorithm research, and applythe model to group emotion assessment to expand its application value. To this end, we propose an end-to-endmulti-face expression recognition algorithm model for smart classrooms (E2E-MfERC). In order to provide highqualityand highly targeted data support for model research, we constructed a multi-face expression dataset inreal classrooms (MfED), containing 2,385 images and a total of 18,712 expression labels, collected from smartclassrooms. In constructing E2E-MfERC, by introducing Re-parameterization visual geometry group (RepVGG)block and symmetric positive definite convolution (SPD-Conv) modules to enhance representational capability;combined with the cross stage partial network fusion module optimized by attention mechanism (C2f_Attention),it strengthens the ability to extract key information;adopts asymptotic feature pyramid network (AfPN) featurefusion tailored to classroomscenes and optimizes the head prediction output size;achieves high-performance endto-end multi-face expression detection. finally, we apply the model to smart classroom group emotion assessmentand provide design refe

关键词： Multi-face expression recognition smart classroom end-to-end detection group emotion assessment

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One-dimensional molecular co-crystal alloys capable of full-color emission for low-loss optical waveguide and optical logic gate

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Aggregate 2024年第1期5卷 299-308页

作者： Zhenhong Qi Yu-juan Ma Dongpeng Yan Beijing Key Laboratory of Energy Conversion and Storage Materials College of ChemistryKey Laboratory of Radio-pharmaceuticals Ministry of EducationBeijing Normal UniversityBeijingChina

The luminescence color of molecule-based photoactive materials is the key to the applications in lighting and optical *** continuous regulation of emission color in molecular systems is highly desirable but still remains a challenge due to the individual emission band of purely organic ***,a novel alloy strategy based on molecular co-crystals is *** adjusting the molar ratio of pyrene(Py)and fluorathene(flu),three types of molecular co-crystal alloys(MCAs)assemblies are prepared involving Py-flu-OfN-x%,Py-flu-TfP-x%,Py-flu-TCNB-x%.Multiple energy level structure and förster resonance energy transfer(fRET)process endow materials with tunable full-spectra emission color in visible ***,these MCAs and co-crystals can be successfully applied to low optical loss waveguide and optical logic gate by virtue of all-color luminescence from blue across green to red,together with smooth surface of onedimensional microrods,which show promising applications as continuous light emitters for advance photonics applications.

关键词： full-color emission microrods molecular co-crystal optical waveguide organic alloys

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Oligodendroctyes:the forgotten players of diabetes pathophysiology

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Neural Regeneration Research 2024年第11期19卷 2349-2350页

作者： juan Antonio López-Villodres Beatriz García-Díaz Departamento fisiología Humana Histología HumanaAnatomía Patológica y Educación Física y DeportivaFacultad de MedicinaUniversidad de MálagaMálagaSpain UGC Neurociencia.Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina(IBIMA Plataforma Bionand) MálagaSpain

Oligodendrocytes(OLs),glial cells that provide myelin sheaths to axons in the central nervous system(CNS),have a dual ***,this myelin fatty cover around the axons protects the nerves and is crucial for the saltatory propagation of action *** and not less important,OLs provide trophic support to neurons and ***,OL metabolism is important for OL well-being and the proper accomplishment of their functions,and OL metabolism energetics directly affect the energy metabolism of neighboring neurons.

关键词： metabolism nerves myelin

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GAN‐MD:A myocarditis detection using multi‐channel convolutional neural networks and generative adversarial network‐based data augmentation

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CAAI Transactions on Intelligence Technology 2024年第4期9卷 866-878页

作者： Hengame Ahmadi Golilarz Alireza Azadbar Roohallah Alizadehsani juan Manuel Gorriz Department of Medical Radiation Engineering Faculty of EngineeringLahijan BranchIslamic Azad UniversityLahijanIran Department of Medical Radiation Engineering Lahijan BranchIslamic Azad UniversityLahijanIran Institute for Intelligent Systems Research and Innovation(IISRI) Deakin UniversityWaurn PondsVictoriaAustralia Data Science and Computational Intelligence Institute University of GranadaGranadaSpain

Myocarditis is a significant public health concern because of its potential to cause heart failure and sudden *** standard invasive diagnostic method,endomyocardial bi-opsy,is typically reserved for cases with severe complications,limiting its widespread ***,non‐invasive cardiac magnetic resonance(CMR)imaging presents a promising alternative for detecting and monitoring myocarditis,because of its high signal contrast that reveals myocardial *** assist medical professionals via artificial intelligence,the authors introduce generative adversarial networks‐multi discriminator(GAN‐MD),a deep learning model that uses binary classification to diagnose myocarditis from CMR *** approach employs a series of convolutional neural networks(CNNs)that extract and combine feature vectors for accurate *** authors suggest a novel technique for improving the classification precision of *** generative adversarial networks(GANs)to create synthetic images for data augmentation,the authors address challenges such as mode collapse and unstable *** a reconstruction loss into the GAN loss function requires the generator to produce images reflecting the discriminator features,thus enhancing the generated images'quality to more accurately replicate authentic data ***,combining this loss function with other reg-ularisation methods,such as gradient penalty,has proven to further improve the perfor-mance of diverse GAN models.A significant challenge in myocarditis diagnosis is the imbalance of classification,where one class dominates over the *** mitigate this,the authors introduce a focal loss‐based training method that effectively trains the model on the minority class *** GAN‐MD approach,evaluated on the Z‐Alizadeh Sani myocarditis dataset,achieves superior results(f‐measure 86.2%;geometric mean 91.0%)compared with other deep learning models and traditional machine learning methods.

关键词： 2‐D 3‐D

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A Novel Graph Structure Learning Based Semi-Supervised framework for Anomaly Identification in fluctuating IoT Environment

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Computer Modeling in Engineering & Sciences 2024年第9期140卷 3001-3016页

作者： Weijian Song Xi Li Peng Chen juan Chen Jianhua Ren Yunni Xia School of Computer and Software Engineering Xihua UniversityChengdu610039China West China Second University Hospital Sichuan UniversityChengdu610065China School of Computer Science Chongqing UniversityChongqing400044China

With the rapid development of Internet of Things(IoT)technology,IoT systems have been widely applied in health-care,transportation,home,and other ***,with the continuous expansion of the scale and increasing complexity of IoT systems,the stability and security issues of IoT systems have become increasingly ***,it is crucial to detect anomalies in the collected IoT time series from various ***,deep learning models have been leveraged for IoT anomaly ***,owing to the challenges associated with data labeling,most IoT anomaly detection methods resort to unsupervised learning ***,the absence of accurate abnormal information in unsupervised learning methods limits their *** address these problems,we propose AS-GCN-MTM,an adaptive structural Graph Convolutional Networks(GCN)-based framework using a mean-teacher mechanism(AS-GCN-MTM)for anomaly *** performs better than unsupervised methods using only a small amount of labeled *** Teachers is an effective semi-supervised learning method that utilizes unlabeled data for training to improve the generalization ability and performance of the ***,the dependencies between data are often unknown in time series *** solve this problem,we designed a graph structure adaptive learning layer based on neural networks,which can automatically learn the graph structure from time series *** not only better captures the relationships between nodes but also enhances the model’s performance by augmenting key *** have demonstrated that our method improves the baseline model with the highest f1 value by 10.4%,36.1%,and 5.6%,respectively,on three real datasets with a 10%data labeling rate.

关键词： IoT multivariate time series anomaly detection graph learning semi-supervised mean teachers

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Porphyrinic Acceptors forfullerene-free MolecularPhotovoltaics

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CCS Chemistry 2024年第2期6卷 276-296页

作者： Jorge Labella juan Laforga-Martin Tomás Torres Department of Organic Chemistry Universidad Aut´onoma de Madrid28049 Madrid Institute for Advanced Research in Chemical Sciences Universidad Aut´onoma de MadridMadrid IMDEA—Nanociencia 28049 Madrid

Over the past few years,the development of nonfullerene acceptors(NfAs)has become a prominent focus in both organic and perovskite solar cell(OSCs and PSCs,respectively)research *** this context,porphyrinoids,compounds structurally related to porphyrins,have emerged as promising solar cell *** contrast to the widely used fullerene acceptors,porphyrinoids exhibit strong,broad absorption properties across the UV–vis/NIR spectrum,which can be easily tuned through chemical ***,they can be prepared and derivatized using cost-effective and straightforward methodologies,allowing for convenient adjustments in thin-film morphology,processability,supramolecular organization,and energy ***,these compounds offer higher thermal and photochemical stability,resulting in longer device lifetimes compared to their fullerene-based *** this review,we outline the utilization of porphyrinoids as NfAs in OSCs and PSCs,discussing essential aspects such as design guidelines,molecular properties,and device *** goal is to inspire and further promote the development of n-type porphyrinoids,which have not yet fully unleashed their potential.

关键词： fullerene-free molecular photovoltaics nonfullerene acceptors porphyrinic acceptors n-type porphyrinoids organic and perovskite solar cells

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Promotion of structural plasticity in area V2 of visual cortex prevents against object recognition memory deficits in aging and Alzheimer's disease rodents

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Neural Regeneration Research 2024年第8期19卷 1835-1841页

作者： Irene Navarro-Lobato Mariam Masmudi-Martín Manuel f.López-Aranda juan f.López-Téllez Gloria Delgado Pablo Granados-Durán Celia Gaona-Romero Marta Carretero-Rey Sinforiano Posadas María E.Quiros-Ortega Zafar U.Khan Laboratory of Neurobiology Centro de Investigaciones Médico Sanitarias(CIMES)University of MalagaMalagaSpain Department of Medicine Faculty of MedicineUniversity of MalagaMalagaSpain Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas(CIBERNED) Institute of Health Carlos IIIMadridSpain the Donders Institute for Brain Cognition and Behaviour Radboud UniversityNijmegenThe Netherlands the Brain Metastasis Group National Cancer Research Centre(CNIO)MadridSpain the Department of Neurobiology University of California-Los AngelesLos AngelesCAUSA

Memory deficit,which is often associated with aging and many psychiatric,neurological,and neurodegenerative diseases,has been a challenging issue for *** till now,all potential drug candidates have failed to produce satisfa ctory ***,in the search for a solution,we found that a treatment with the gene corresponding to the RGS14414protein in visual area V2,a brain area connected with brain circuits of the ventral stream and the medial temporal lobe,which is crucial for object recognition memory(ORM),can induce enhancement of *** this study,we demonstrated that the same treatment with RGS14414in visual area V2,which is relatively unaffected in neurodegenerative diseases such as Alzheimer s disease,produced longlasting enhancement of ORM in young animals and prevent ORM deficits in rodent models of aging and Alzheimer’s ***,we found that the prevention of memory deficits was mediated through the upregulation of neuronal arbo rization and spine density,as well as an increase in brain-derived neurotrophic factor(BDNf).A knockdown of BDNf gene in RGS14414-treated aging rats and Alzheimer s disease model mice caused complete loss in the upregulation of neuronal structural plasticity and in the prevention of ORM *** findings suggest that BDNf-mediated neuronal structural plasticity in area V2 is crucial in the prevention of memory deficits in RGS14414-treated rodent models of aging and Alzheimer’s ***,our findings of RGS14414gene-mediated activation of neuronal circuits in visual area V2 have therapeutic relevance in the treatment of memory deficits.

关键词： behavioral performance brain-derived neurotrophic factor cognitive dysfunction episodic memory memory circuit activation memory deficits memory enhancement object recognition memory prevention of memory loss regulator of G protein signaling

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