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Combined Oxidative Phosphorylation Deficiency-20-Exome as a Diagnostic Implement

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Journal of Biosciences and Medicines 2024年第6期12卷 7-12页

作者： paulo roberto Matos-Neto Lucas Antonissen Lima Verde Airton Ferreira da Ponte-Filho Luís Eduardo Oliveira Matos Amandha Espavier Trés paulo roberto Lacerda leal Gerardo Cristino-Filho Regina Coeli de Carvalho Porto Carneiro Faculty of Medicine Federal University of Cear Sobral Cear Brazil Department of Neurosurgery Federal University of Cear Sobral Cear Brazil Department of Neuropediatrics Federal University of Cear Sobral Cear Brazil

Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 gene. This article presents a case of a 2-year-old female with progressive myoclonic epilepsy and psychomotor regression, with refractoriness to multiple anticonvulsants. The diagnosis was only made after the examination was carried out. Therefore, this article highlights the aspects of this rare disease and the importance of the exome for the diagnosis of rare conditions.

关键词： Oxidative Phosphorylation Epilepsy Exome Mitochondrial Defect VARS2

Efficacy of acupuncture on cancer pain:A systematic review and meta-analysis

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Journal of Integrative Medicine 2024年第3期22卷 235-244页

作者： Miguel Faria Mónica Teixeira Maria João Pinto paulo Sargento Núcleo de Investigação em Ciências e Tecnologias da Saúde Instituto Politécnico da Lusofonia1950-396 LisboaPortugal Clínica São João de Deus 1700-048 LisboaPortugal REQUIMTE/LAQV(Rede de Química e Tecnologia/Laboratório Associado para a Química Verde) Instituto Superior de EngenhariaInstituto Politécnico do Porto4051-401 PortoPortugal Hospital SOERAD 2560-312 Torres VedrasPortugal Centro de Estudos Avançados em Direito“Francisco Suarez ”1749-024 LisboaPortugal

Background:Pain associated with cancer is one of the greatest causes of reduced quality of life in *** is one of the treatments used to address this issue,with the great advantage of having little or no side effects,especially when compared with pharmacological ***:The aim of this systematic review and meta-analysis was to evaluate the current evidence regarding the efficacy of acupuncture for cancer *** strategy:Six electronic databases(PubMed,EBSCO,Cochrane Library,Scielo,b-On and Scopus)were searched for relevant articles about pain relief in cancer patients from their beginning until 2022using MeSH terms such as“acupuncture,”“electroacupuncture,”“ear acupuncture,”“acupuncture analgesia,”“oncological pain,”and“cancer pain.”Inclusion criteria:Studies included were randomized controlled trials(RCTs)where acupuncture was compared with no treatment,placebo acupuncture or usual *** extraction and analysis:Three independent reviewers participated in data extraction and evaluation of risk of bias,and a meta-analysis was *** primary outcome was pain intensity,measured with the visual analog scale,numeric rating scale,or brief pain *** outcomes also assessed were quality of life,functionality,xerostomia,pain interference,and analgesic *** were expressed as standardized mean difference(SMD)with 95%confidence interval(CI).Results:Sixteen RCTs with a total of 1124 participants were included in the meta-analysis,with the majority of the studies presenting a low or unclear risk of *** was more effective in reducing pain than no treatment(SMD=–0.90,95%CI[–1.68,–0.12]),sham acupuncture(SMD=–1.10,95%CI[–1.59,–0.61])or usual care(SMD=–1.16,95%CI[–1.38,–0.93]).Conclusion:The results of this study suggest that acupuncture may be an effective intervention to reduce pain associated with *** some limitations due to the low quality and small sample size of some included st

关键词： Acupuncture Cancer pain Meta-analysis Systematic review

Customized scaffolds for large bone defects using 3D‑printed modular blocks from 2D‑medical images

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Bio-Design and Manufacturing 2024年第1期7卷 74-87页

作者： Anil AAcar Evangelos Daskalakis paulo Bartolo Andrew Weightman Glen Cooper Gordon Blunn Bahattin Koc Faculty of Engineering and Natural Sciences Sabanci UniversityIstanbul 34956Türkiye D Bioprinting Laboratory Sabanci University Nanotechnology Research and Application CenterIstanbul 34956Türkiye School of Mechanical Aerospace and Civil EngineeringManchester Institute of BiotechnologyUniversity of ManchesterManchester M139PLUK Singapore Centre for 3D Printing School of Mechanical and Aerospace EngineeringNanyang Technological UniversitySingapore 639798Singapore School of Pharmacy and Biomedical Sciences University of PortsmouthPortsmouth PO12UPUK

Additive manufacturing(AM)has revolutionized the design and manufacturing of patient-specific,three-dimensional(3D),complex porous structures known as scaffolds for tissue engineering *** use of advanced image acquisition techniques,image processing,and computer-aided design methods has enabled the precise design and additive manufacturing of anatomically correct and patient-specific implants and ***,these sophisticated techniques can be timeconsuming,labor-intensive,and ***,the necessary imaging and manufacturing equipment may not be readily available when urgent treatment is needed for trauma *** this study,a novel design and AM methods are proposed for the development of modular and customizable scaffold blocks that can be adapted to fit the bone defect area of a *** modular scaffold blocks can be combined to quickly form any patient-specific scaffold directly from two-dimensional(2D)medical images when the surgeon lacks access to a 3D printer or cannot wait for lengthy 3D imaging,modeling,and 3D printing during *** proposed method begins with developing a bone surface-modeling algorithm that reconstructs a model of the patient’s bone from 2D medical image measurements without the need for expensive 3D medical imaging or *** algorithm can generate both patient-specific and average bone ***,a biomimetic continuous path planning method is developed for the additive manufacturing of scaffolds,allowing porous scaffold blocks with the desired biomechanical properties to be manufactured directly from 2D data or *** algorithms are implemented,and the designed scaffold blocks are 3D printed using an extrusion-based AM *** and instructions are also provided to assist surgeons in assembling scaffold blocks for the self-repair of patient-specific large bone defects.

关键词： Additive manufacturing Modular scaffolds Large bone defect Customized scaffold design Patient-specific scaffolds

Annual variation of adult survival of a south-temperate House Wren population in Argentina

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Avian Research 2024年第2期15卷 229-237页

作者： Gustavo J.Fernandez Mariana E.Carro paulo E.Llambías Grupo de Investigacion en Ecofisiología de Fauna Silvestre INIBIOMA-CONICETAsentamiento Universitario San Martín de los Andes(AUSMA)Universidad Nacional Del ComahuePasaje de la Paz 235(8370)San Martín de los AndesNeuquenArgentina Grupo de Investigacion de Biología de Aves IADIZA CCT-MendozaUniversidad Nacional de CuyoAvenida RuizLeal s/n Parque General San Martin5500MendozaArgentina

Identifying factors affecting the survival of individuals is essential for understanding the evolution of life-history traits and population *** numerous studies on this subject in north-temperate environments,there is a lack of equivalent studies at similar latitudes in the ***,we used a 14-year dataset of capture,banding,and resighting to estimate the annual variation in the apparent adult survival probability of a south-temperate population of House Wrens(Troglodytes aedon bonariae).We evaluated temporal variation in sur-vival and the effect of environmental(climatic)and demographic variables(adult abundance,total number of fledglings produced during each breeding season)on survival *** found that the probability of adult survival decreased as the abundance of breeding adults *** density-dependent effect could be related to the resident lifestyle of southern House Wrens,which could determine an intense competition for territories and resources that ultimately would affect their survival.

关键词： Annual variation CJS Density-dependence Survival Troglodytes aedon bonariae

Ballistic design and testing of a composite armour reinforced by CNTs suitable for armoured vehicles

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Defence Technology（防务技术） 2024年第2期32卷 173-195页

作者： Evangelos Ch.Tsirogiannis Evangelos Daskalakis Mohamed H.Hassan Abdalla M.Omar paulo Bartolo EODH SA Research and Development DepartmentLakkoma Chalkidikis63080Greece School of Mechanical Aerospace and Civil EngineeringUniversity of ManchesterManchesterM139PLUK Singapore Centre for 3D Printing School of Mechanical and Aerospace EngineeringNanyang Technological University639798Singapore

This paper is investigating the use of composite armour reinforced by nanomaterials, for the protection of light armoured(LAV) and medium armoured military vehicles(MAV), and the interaction between the composite materials and high-performance ballistic projectiles. Four armour materials, consisted of front hybrid fibre reinforced polymer cover layer, ceramic strike-face, fibre reinforced polymer intermediate layer and the metal matrix composite reinforced backplate, were manufactured and assembled by adhesive technology. The proposed laminated protection system is suitable for armoured ground vehicles;however, it could be used as armour on ground, air and naval platforms. The design of the protection system, including material selection and thickness, was elaborated depending on the performance requirements of Level 4 + STANAG 4569 military standard(projectile 14.5 mm × 114 mm API B32) and especially on a design philosophy which is analysed with the specifications. The backplate of this new composite is a hybrid material of Metal Matrix Composite(MMC) reinforced with carbon nanotubes(CNTs), manufactured with the use of powder metallurgy technique. The composite backplate material was morphologically, mechanically and chemically analysed. Results show that all plates are presenting high mechanical properties and ballistic characteristics, compared to commonly used armour plates. Real military ballistic tests according to AEP-STANAG 4569 were carried out for the total composite armour systems. After the ballistic tests, AA2024-CNT3 showed the best protection results, compared with the other plates(AA2024-CNT1 and AA2024-CNT2), with the projectile being unable to fully penetrate the composite plate.

关键词： Passive armour protection Protective armour Ballistic performance Hybrid composites Vehicle protection

Temporal and spatial differences in human activities performed in Urban Green Spaces of Vilnius(Lithuania)

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Geography and Sustainability 2024年第2期5卷 302-317页

作者： Luís Valença Pinto Carla Sofia Santos Ferreira paulo Pereira Research Centre for Natural Resources Environment and Society(CERNAS) Polytechnic Institute of CoimbraBencanta3045-601 CoimbraPortugal Environmental Management Laboratory Mykolas Romeris UniversityVilniusLithuania Polytechnic Institute of Coimbra Applied Research InstituteRua da MisericórdiaLagar dos Cortiços-S.Martinho do Bispo3045-093 CoimbraPortugal

Urban green spaces(UGS)are relevant to city well-being,as recognized by the United Nations’Sustainable Development Goals(SDGs).However,few studies have studied the temporal use of *** work assessed the seasonal,weekly,and daily use of three urban green spaces(Vingis Park,Bernardino Garden,and Jomantas Park)in Vilnius(Lithuania).The study is based on an on-site observation-based survey,which recorded users’characteristics,activities,and weather conditions during summer and *** results showed that UGS’s seasonal,weekly,and daily use differed according to park and users’*** with a higher diversity of facilities had a high seasonal difference in the number of observed *** numbers were higher in the summer for activities with children,social activities,sports,and water activities than in the *** Park had the lowest variability in user *** variables were linked to changes in users’*** precipitation and lower temperature were associated with reducing the number of users and the diversity of registered *** of the stationary activities were observed during *** diversity of the observed activities was associated with the available facilities rather than the park *** distribution of stationary activities was spatially correlated with facility/equipment(benches,playgrounds,sports,and fitness equipment)and proximity to water *** results of this study are relevant for UGS design,planning,and management.

关键词： Urban parks Seasonal differences Temporal use Time of day Spatial distribution of UGS users

Applying a Context-based Method to Build a Knowledge Graph for the Blue Amazon

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Data Intelligence 2024年第1期6卷 64-103页

作者： Pedro de Moraes Ligabue Anarosa Alves Franco Brandão Sarajane Marques Peres Fabio Gagliardi Cozman paulo Pirozelli Escola Politécnica Universidade de São PauloRua Visconde da Luz60São PauloSão Paulo 05508-010Brazi Escola Politécnica Universidade de São PauloAv.Prof.Luciano Gualbertotv 3158São Paulo 05508-010Brazil Escola de Artes Ciências e Humanidades Universidade de São PauloRua Arlindo Béttio1000São Paulo 03828-000Brazil Instituto de Estudos Avançados Universidade de São PauloRua da Praça do Relógio109São Paulo 05508-050Brazil

Knowledge graphs are employed in several tasks,such as question answering and recommendation systems,due to their ability to represent relationships between *** constructing such a graphs,however,remains an unresolved challenge within knowledge *** tackle this challenge,we propose CtxKG,a method specifically aimed at extracting knowledge graphs in a context of limited resources in which the only input is a set of unstructured text *** is based on OpenIE(a relationship triple extraction method)and BERT(a language model)and contains four stages:the extraction of relationship triples directly from text;the identification of synonyms across triples;the merging of similar entities;and the building of bridges between knowledge graphs of different *** method distinguishes itself from those in the current literature(i)through its use of the parse tree to avoid the overlapping entities produced by base implementations of OpenIE;and(ii)through its bridges,which create a connected network of graphs,overcoming a limitation similar methods have of one isolated graph per *** compare our method to two others by generating graphs for movie articles from Wikipedia and contrasting them with benchmark graphs built from the OMDb movie *** results suggest that our method is able to improve multiple aspects of knowledge graph *** also highlight the critical role that triple identification and named-entity recognition have in improving the quality of automatically generated graphs,suggesting future paths for ***,we apply CtxKG to build BlabKG,a knowledge graph for the Blue Amazon,and discuss possible improvements.

关键词： knowledge graph word embeddings relationship triple extraction Blue Amazon Atlantic Ocean Brazilian coast

Extracellular vesicles-coupled miRNAs from oviduct and uterus modulate signaling pathways related to lipid metabolism and bovine early embryo development

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Journal of Animal Science and Biotechnology 2024年第4期15卷 1528-1549页

作者： Rosane Mazzarella Karina Canon‑Beltran Yulia N.Cajas Meriem Hamdi Encina M.Gonzalez Juliano C.da Silveira Claudia L.V.leal D.Rizos Department of Animal Reproduction INIA-CSICMadridSpain Department of Biochemistry and Molecular Biology Veterinary FacultyComplutense University of Madrid(UCM)MadridSpain Department Agrarian Production Technical University of MadridUPMMadridSpain Departamento de Ciencias Biologicas Universidad Tecnica Particular de LojaUTPLLojaEcuador Department of Anatomy and Embryology FV-UCMMadridSpain Department of Veterinary Medicine FZEA-USPPirassunungaBrazil

Background Extracellular vesicles(EVs) present in oviductal(OF) and uterine fluid(UF) have been shown to enhance bovine embryo quality during in vitro culture by reducing lipid contents and modulating lipid metabolism-related genes(LMGs), while also influencing cell proliferation, suggesting their involvement on the regulation of different biological pathways. The regulation of signaling pathways related to cell differentiation, proliferation, and metabo-lism is crucial for early embryo development and can determine the success or failure of the pregnancy. Bioactive molecules within EVs in maternal reproductive fluids, such as micro RNAs(miRNAs), may contribute to this regulatory process as they modulate gene expression through post-transcriptional *** This study evaluated miRNA cargo in OF-EVs from the early luteal phase and UF-EVs from the mid-luteal phase, coinciding with embryo transit within oviduct and uterus in vivo, and its possible influence on LMGs and sign-aling pathways crucial for early embryo development. A total of 333 miRNAs were detected, with 11 exclusive to OF, 59 to UF, and 263 were common between both groups. From the 20 differentially expressed miRNAs, 19 up-regulated in UF-EVs(bta-miR-134, bta-miR-151-3p, bta-miR-155, bta-miR-188, bta-miR-181b, bta-miR-181d, bta-miR-224, bta-miR-23b-3p, bta-miR-24-3p, bta-miR-27a-3p, bta-miR-29a, bta-miR-324, bta-miR-326, bta-miR-345-3p, bta-miR-410, bta-miR-652, bta-miR-677, bta-miR-873 and bta-miR-708) and one(bta-miR-148b) in OF-EVs. These miRNAs were predicted to modulate several pathways such as Wnt, Hippo, MAPK, and lipid metabolism and degradation. Differ-ences in miRNAs found in OF-EVs from the early luteal phase and UF-EVs from mid-luteal phase may reflect differ-ent environments to meet the changing needs of the embryo. Additionally, miRNAs may be involved, particularly in the uterus, in the regulation of embryo lipid metabolism, immune system, and *** Our study su

关键词： Embryo-maternal interaction Epigenetic Exosomes Mammalian Preimplantation Reproductive fluids

Visualizing traumatic brain injury:ocular clues for diagnosis and assessment

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Neural Regeneration Research 2025年第5期20卷 1399-1400页

作者： Morteza Abyadeh Vivek Gupta Yuyi You Joao A.paulo Mehdi Mirzaei ProGene Technologies Pty Ltd SydneyNSWAustralia Department of Clinical Medicine Faculty of MedicineHealth and Human SciencesMacquarie Medical SchoolMacquarie UniversityMacquarie ParkNorth RydeSydneyNSWAustralia Department of Cell Biology Harvard Medical SchoolBostonMAUSA

Traumatic brain injury (TBI) is defined as damage to the brain resulting from an external sudden physical force or shock to the *** is considered a silent public health epidemic causing significant death and disability *** were 64,000 TBI related deaths reported in the USA in 2020,with about US$76 billion in direct and indirect medical costs annually.

关键词： diagnosis ocular injury