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Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： alberto gomez-carballa Maria Jose Curras-Tuala Sara Pischedda Miriam Cebey-Lopez Jose gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao Alba Camino-Mera Isabel Ferreiros-Vidal Maximo Fraga Jose RAntunez Rodolfo gomez Federico Martinon-Torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)***,the molecular mechanisms underlying HO remain poorly *** a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

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Y-chromosome Peruvian origin of the 500-year-old Inca child mummy sacrificed in Cerro Aconcagua (Argentina)

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Science Bulletin 2018年第22期63卷 1457-1459页

作者： Antonio Salas Laura Catelli Jacobo Pardo-Seco alberto gomez-carballa Federico Martinon-Torres Joaquin Roberto-Barcena Carlos Vullo Unidade de Xenetica Instituto de Ciencias ForensesFacultade de MedicinaUniversidade de Santiago de Compostela (USC)and GenPoB Research GroupInstituto de Investigaciones Sanitarias (IDIS)Hospital Clinico Universitario de Santiago (SERGAS)GaliciaSpain Equipo Argentino de Antropologia Forense Independencia 644-3AEdif.EME1CordobaArgentina Translational Pediatrics and Infectious Diseases Hospital Clinico Universitario de SantiagoSantiago de CompostelaSpain GENVIP Research Group (***) Instituto de Investigacion Sanitaria de SantiagoGaliciaSpain Instituto Etnologico de la Universidad Nacional de Cuyo (UNC) MendozaArgentina

A frozen mummy was found in Cerro Aconcagua (Argentina)in 1985(Fig.1a-c).Archaeologists identified this mummy as a seven-year-old Inca sacrifice victim living at the time of the Inca Civilization about 500years ago [1].The child was sacrificed following an Incan ritual known as *** complete mitochondrial DNA (mtDNA) genome of this mummy was recently analyzed in gomez-carballa et al.[2].This mitogenome belongs to a new sub-branch of the Native American phylogeny named C1bi dated to approximately 14 thousand years ago (loja).Information retrieved from a large database of mtDNA profiles indicated the existence of a few closely related haplotypes in Peru (including one haplotype retrieved from ancient DNA of an individual belonging to the Wari Empire)and the Aymaras from *** these data suggested a Peruvian Inca origin for this C1bi haplotype,in good agreement with archaeological reports [1].

关键词：木乃伊儿童

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Phylogeography of SARS-CoV-2 pandemic in Spain:a story of multiple introductions,micro-geographic stratification,founder effects,and super-spreaders

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Zoological Research 2020年第6期41卷 605-620页

作者： alberto gomez-carballa Xabier Bello Jacobo Pardo-Seco Maria Luisa Perez del Molino Federico Martinon-Torres Antonio Salas Unidade de Xendtica Instituto de Ciencias Forenses(I NCI FOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigaci6n Sanitaria(IDIS)Hospital Clinico Universitario de Santiago(SERGAS)Galicia 15706Spain Genetics Vaccines and Pediatric Infectious Diseases Research Group(GENVIP)Instituto de Investigacion Sanitaria de Santiago(IDIS)and Universidade de Santiago de Compostela(USC)Galicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Servicio de Microbiologia y Parasitologia Complejo Hospitalario Universitario de Santiago de CompostelaSantiago de CompostelaGalicia15706 Spain

Spain has been one of the main global pandemic epicenters for coronavirus disease 2019(COVID-19).Here,we analyzed>41000 genomes(including>26000 high-quality(HQ)genomes)downloaded from the GISAID repository,including 1245(922 HQ)sampled in *** aim of this study was to investigate genome variation of novel severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)and reconstruct phylogeographic and transmission patterns in *** analysis suggested at least 34 independent introductions of SARS-CoV-2 to Spain at the beginning of the *** lineages spread very successfully in the country,probably favored by super-spreaders,namely,A2 a4(7.8%),A2 a5(38.4%),A2 a10(2.8%),B3 a(30.1%),and B9(8.7%),which accounted for 87.9% of all genomes in the Spanish *** distinct feature of the Spanish SARS-Cov-2 genomes was the higher frequency of B lineages(39.3%,mainly B3 a+B9)than found in any other European *** B3 a,B9,(and an important sub-lineage of A2 a5,namely,A2 a5 c)most likely originated in Spain,the other three haplogroups were imported from other European *** B3 a strain may have originated in the Basque Country from a B3 ancestor of uncertain geographic origin,whereas B9 likely emerged in *** time of the most recent common ancestor(TMRCA)of SARS-CoV-2 suggested that the first coronavirus entered the country around 11 February 2020,as estimated from the TMRCA of B3 a,the first lineage detected in the ***,earlier claims that the D614 G mutation is associated to higher transmissibility is not consistent with the very high prevalence of COVID-19 in Spain when compared to other countries with lower disease incidence but much higher frequency of this mutation(56.4% in Spain vs.82.4% in rest of Europe).Instead,the data support a major role of genetic drift in modeling the micro-geographic stratification of virus strains across the country as well as the role of SARS-CoV-2 super-spreaders.

关键词： Covid-19 SARS-CoV-2 Genomics Phylogeny Phylogeography

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An Optimization Model for Reliability Improvement and Cost Reduction Through EV Smart Charging

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Journal of Modern Power Systems and Clean Energy 2024年第2期12卷 608-620页

作者： Jinping Zhao Ali Arefi alberto Borghetti Gerard Ledwich School of Engineering and Energy Murdoch UniversityPerthAustralia Department of Electrical Electronicand Information EngineeringUniversity of BolognaBologna40126Italy School of Electrical Engineering and Robotics Queensland University of TechnologyBrisbaneQLD 4000Australia

There is a general concern that the increasing penetration of electric vehicles(EVs)will result in higher aging failure probability of equipment and reduced network *** electricity costs may also increase,due to the exacerbation of peak load led by uncontrolled EV *** paper proposes a linear optimization model for the assessment of the benefits of EV smart charging on both network reliability improvement and electricity cost *** objective of the proposed model is the cost minimization,including the loss of load,repair costs due to aging failures,and EV charging *** proposed model incorporates a piecewise linear model representation for the failure probability distributions and utilizes a machine learning approach to represent the EV charging *** two different test systems(a 5-bus network and the IEEE 33-bus network),this paper compares aging failure probabilities,service unavailability,expected energy not supplied,and total costs in various scenarios with and without the implementation of EV smart charging.

关键词： Aging failure electric vehicle(EV) EV charging power system reliability expected energy not supplied distribution network.

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Distributed Energy and Reserve Scheduling in Local Energy Communities Using L-BFGS Optimization

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CSEE Journal of Power and Energy Systems 2024年第3期10卷 942-952页

作者： Mohammad Dolatabadi Alireza Zakariazadeh alberto Borghetti Pierluigi Siano Department of Management&Innovation Systems University of SalernoSalernoItaly Department of Electrical Electronicand Information EngineeringUniversity of BolognaBolognaItaly University of Science and Technology of Mazandaran BehshahrIran Department of Power Systems National University of Science and Technology POLITEHNICA BucharestBucharestRomania IEEE

Encouraging citizens to invest in small-scale renewable resources is crucial for transitioning towards a sustainable and clean energy *** energy communities(LECs)are expected to play a vital role in this ***,energy scheduling in LECs presents various challenges,including the preservation of customer privacy,adherence to distribution network constraints,and the management of computational *** paper introduces a novel approach for energy scheduling in renewable-based LECs using a decentralized optimization *** proposed approach uses the Limitedmemory Broyden–Fletcher–Goldfarb–Shanno(L-BFGS)method,significantly reducing the computational effort required for solving the mixed integer programming(MIP)*** incorporates network constraints,evaluates energy losses,and enables community participants to provide ancillary services like a regulation reserve to the grid *** assess its robustness and efficiency,the proposed approach is tested on an 84-bus radial distribution *** indicate that the proposed distributed approach not only matches the accuracy of the corresponding centralized model but also exhibits scalability and preserves participant privacy.

关键词： Distributed optimization flexibility services L-BFGS method local energy community renewables reserve

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Molecular and cellular mechanisms of neuroprotection by oligopeptides from snake venoms

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BIOCELL 2024年第6期48卷 897-904页

作者： CARLOS alberto-SILVA BRENDA RUFINO DA SILVA Natural and Humanities Sciences Center Experimental Morphophysiology LaboratoryFederal University of ABC(UFABC)São Bernardo do CampoSão PauloBrazil

Venom snake-derived peptides have multiple biochemical,pharmacological,and toxicological proﬁles,allowing for the discovery of new medicinal products and therapeutic *** review speciﬁcally examines the fundamental elements of neuroprotection offered by different oligopeptides derived from snake *** also includes a brief evaluation of short peptides that are being considered as potential therapeutic ***-rich peptides and tryptophyllin family peptides isolated from the crude venom of Viperidae family snakes,speciﬁcally Bothrops atrox,Bothrops jararaca,and Bothrops moojeni,have been shown to have pro-survival properties,the ability to reduce oxidative stress,and the ability to promote cell viability and mitochondrial *** signiﬁcant mechanisms are related to the neuroprotection mediated by snake venom oligopeptides:(1)Activation of the L-arginine metabolite pathway,such as polyamines from ornithine metabolism,which reduces N-methyl-D-aspartate(NMDA)-type glutamate receptor activity;(2)Enhancement of cell viability by activating the nerve growth factor-signaling pathway;and(3)Activation of the Muscarinic acetylcholine receptor subtype M1(mAChR-M1).These small peptides show promise as neuroprotective agents against a variety of neurodegenerative disorders.

关键词： Neuroprotective peptides Neurodegenerative disease Oxidative stress Reactive oxygen species Biopeptides

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Insight into endoplasmic reticulum-mitochondria contacts in human amyotrophic lateral sclerosis

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Neural Regeneration Research 2024年第7期19卷 1407-1408页

作者： Naomi Hartopp Andrea Markovinovic Christopher CJ Miller Patricia gomez-Suaga Sheffield Institute for Translational Neuroscience University of SheffieldSheffieldUK Department of Basic and Clinical Neuroscience Institute of PsychiatryPsychology and NeuroscienceLondonUK Universidad de Extremadura.Departamento de Bioquímica y Biología Molecular y Genética Facultad de Enfermería y Terapia OcupacionalCáceresSpain Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos Ⅲ(CIBER-CIBERNED-ISCⅢ) MadridSpain Instituto Universitario de Investigación Biosanitaria de Extremadura(INUBE) CáceresSpain

Amyotrophic lateral sclerosis(ALS) is a fastprogressing fatal neurodegenerative disease and the most common form of motor neuron *** is currently no cure and approximately 90% of cases are *** shares genetic causes,clinical and neuropathological features with frontotemporal dementia,the second most common form of presenile *** and frontotemporal dementia are therefore considered a disease spectrum(Abramzon et al.,2020).

关键词： senile sclerosis

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Colon cancer screening:What to choose?

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World Journal of Gastrointestinal Oncology 2024年第8期16卷 3393-3396页

作者： Martin Alonso gomez Zuleta Department of Internal Medicine Head of Gastroenterology UnitUniversidad Nacional de ColombiaHospital Universitario Nacional de ColombiBogota 571Colombia

Colorectal cancer is one of the predominant tumors in the world,primarily generated by a progression from polyp to cancer which can last several years,giving a great opportunity to the scientific community for its prevention by screening programs that can be done with invasive and non-invasive *** this issue,Lopes et al show us an excellent review of screening,its options,its advantages and disadvantages.

关键词： Colon cancer Adenoma Screening Fecal immunochemical test Colonoscopy

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Extracorporeal shockwave lithotripsy in the management of urinary stones: New concepts and techniques to improve outcomes

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Asian Journal of Urology 2024年第2期11卷 143-148页

作者： Pilar Bahilo-Mateu alberto Budia-Alba Lithotripsy and Endourology Unit La Fe University and Polytechnic HospitalValenciaSpain Lithotripsy and Endourology Unit Urology DepartmentLa Fe University and Polytechnic HospitalValenciaSpain

Objective: Extracorporeal shockwave lithotripsy (SWL) currently plays an important role in the treatment of urinary tract lithiasis. The purpose of this article was to describe new concepts and procedural strategies that would improve results using SWL as a treatment for urolithiasis, thereby achieving better clinical ***: A systematic review process was carried in PubMed/PMC from January 2003 to March 2023. A narrative synthesis of the most important aspects has been ***: The important recommendations for the adequate selection of the candidate patient for treatment with SWL are summarized, as well as the new strategies for a better application of the technique. Aspects about intraoperative position, stone localization and monitoring, analgesic control, machine and energy settings, and measures aiming at reduced risk of complications are ***: To achieve the therapeutic goal of efficient stone disintegration without increasing the risk of complications, it is necessary to make an adequate selection of patients and to pay special attention to several important factors in the application of treatment. Technological development in later generation devices will help to improve current SWL results.

关键词： Lithotripsy Extracorporeal shockwave Stone disease Treatment Urinary stone

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Digital twin-and extended reality-based telepresence for collaborative robot programming in the 6G perspective

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Digital Communications and Networks 2024年第2期10卷 315-327页

作者： Davide Calandra F.Gabriele Pratticò alberto Cannavò Claudio Casetti Fabrizio Lamberti Politecnico di Torino Department of Control and Computer EngineeringCorso Duca Degli Abruzzi2410129TurinItaly

In the context of Industry 4.0,a paradigm shift from traditional industrial manipulators to Collaborative Robots(CRs)is ongoing,with the latter serving ever more closely humans as auxiliary tools in many production *** this scenario,continuous technological advancements offer new opportunities for further innovating robotics and other areas of next-generation *** example,6G could play a prominent role due to its human-centric view of the industrial *** particular,its expected dependability features will pave the way for new applications exploiting highly effective Digital Twin(DT)-and eXtended Reality(XR)-based *** this work,a novel application for the above technologies allowing two distant users to collaborate in the programming of a CR is *** approach encompasses demanding data flows(e.g.,point cloud-based streaming of collaborating users and robotic environment),with network latency and bandwidth *** obtained by analyzing this approach from the viewpoint of network requirements in a setup designed to emulate 6G connectivity indicate that the expected performance of forthcoming mobile networks will make it fully feasible in principle.

关键词： 6G Digital twin Telepresence Collaborative robots Industry 4.0 Augmented reality Virtual reality Point cloud streaming

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