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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

Potential use of lactate for the treatment of neonatal hypoxic-ischemic encephalopathy

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Neural Regeneration Research 2022年第4期17卷 788-790页

作者： Isadora D’Ávila Tassinari Luciano Stürmer de fraga Laboratory of Neurobiology and Metabolism(NeuroMet) Department of PhysiologyInstituto de Ciências Básicas da Saúde(ICBS)Federal University of Rio Grande do Sul(UFRGS) Post-Graduate Program in Physiology Instituto de Ciências Básicas da Saúde(ICBS)Federal University of Rio Grande do Sul(UFRGS) Unidade de Experimentação Animal Centro de Pesquisa ExperimentalHospital de Clínicas de Porto Alegre(HCPA)Porto AlegreBrazil

Function of lactate:Lactate is a three-carbon molecule produced by glycolytic metabolism that is a metabolic waste product with no known use in clinical ***,it is a metabolite that the body should quickly guarantee the ***,lactate is now recognized as a potential energy substrate,as well as an anti-inflammatory signaling *** actions were first reported in adult animal models with a brain injury,including a traumatic brain injury and cerebral ischemia,and have also been observed in human patients(Magistretti and Allaman,2018).Recently,however,two studies by independent research groups described promising n euro p rotective results from the use of lactate in animal models with neonatal hypoxia-ischemia(Roumes et al.,2021;Tassinari et al.,2020).

关键词： neonatal metabolism ischemia

Parkinson’s disease and diabetes mellitus: common mechanisms and treatment repurposing

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Neural Regeneration Research 2022年第8期17卷 1652-1658页

作者： Carmen M.Labandeira Arturo fraga-Bau David Arias Ron Elena Alvarez-Rodriguez Pablo Vicente-Alba Javier Lago-Garma Ana I.Rodriguez-Perez Department of Clinical Neurology Hospital Alvaro CunqueiroUniversity Hospital ComplexVigoSpain Laboratory of Cellular and Molecular Neurobiology of Parkinson’s Disease Research Center for Molecular Medicine and Chronic Diseases(CIMUS)IDISUniversity of Santiago de CompostelaSantiago de CompostelaSpain Department of Clinical Oncology University Hospital ComplexOurenseSpain Department of Endocrinology Hospital MeixoeiroUniversity Hospital ComplexVigoSpain Networking Research Center on Neurodegenerative Diseases(CiberNed) MadridSpain

In the last decade,attention has become greater to the relationship between neurodegeneration and abnormal insulin signaling in the central nervous system,as insulin in the brain is implicated in neuronal survival,plasticity,oxidative stress and *** mellitus and Parkinson’s disease are both aging-associated diseases that are turning into epidemics *** mellitus and insulin resistance not only increase the possibility of developing Parkinson’s disease but can also determine the prognosis and progression of Parkinsonian ***,there are no available curative or disease modifying treatments for Parkinson’s disease,but the role of insulin and antidiabetic medications in neurodegeneration opens a door to treatment repurposing to fight against Parkinson’s disease,both in diabetic and nondiabetic Parkinsonian ***,it is essential to comprehend how a frequent and treatable disease such as diabetes can influence the progression of neurodegeneration in a challenging disease such as Parkinson’s ***,we review the present evidence on the connection between Parkinson’s disease and diabetes and the consequential implications of the existing antidiabetic molecules in the severity and development of Parkinsonism,with a particular focus on glucagon-like peptide-1 receptor agonists.

关键词： antidiabetic diabetes mellitus dopamine exenatide glucagon-like peptide-1 insulin neurodegeneration neuroinflammation Parkinson’s disease repurposing

Is there a window of opportunity for the therapeutic use of vitamin D in multiple sclerosis?

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Neural Regeneration Research 2022年第9期17卷 1945-1954页

作者： Sofia Fernanda Gonçalves Zorzella-Pezavento Luiza Ayumi Nishiyama Mimura Marina Bonifácio Denadai William Danilo Fernandes de Souza Thais Fernanda de Campos fraga-Silva Alexandrina Sartori Department of Chemical and Biological Sciences Institute of BiosciencesSão Paulo State University(UNESP)BotucatuSão PauloBrazil

Multiple sclerosis is an autoimmune treatable but not curable *** are a multiplicity of medications for multiple sclerosis therapy,including a class entitled disease-modifying drugs that are mainly indicated to reduce the number and severity of disease *** all patients respond well to these therapies,and minor to severe adverse effects have been *** D,called sunshine vitamin,is being studied as a possible light at the end of the *** this review,we recapitulated the similar immunopathogenesis of multiple sclerosis and experimental autoimmune encephalomyelitis,the immunomodulatory and neuroprotective potential of vitamin D and the state-of-art concerning its supplementation to multiple sclerosis ***,based on our and other groups’experimental findings,we analyzed the need to consider the relevance of the route and the different time-point administration aspects for a more rational indication of this vitamin to multiple sclerosis patients.

关键词： central nervous system cytokines experimental autoimmune encephalomyelitis immunomodulation immunopathogenesis inflammation multiple sclerosis neuroprotection regulatory T cells vitamin D

Apparent soil electrical conductivity in the delineation of management zones for cocoa cultivation

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Information Processing in Agriculture 2022年第3期9卷 443-455页

作者： Samuel de Assis Silva Railton Oliveira dos Santos Daniel Marcal de Queiroz Juliao Soares de Souza Lima Levi fraga Pajehua Caique Carvalho Medauar Center for Agricultural Sciences and Engineering Federal University of Espirito SantoAlegre CampusEspirito Santo 29500-000Brazil Department of Agricultural Sciences Santa Cruz State UniversityIlheusBahia 45662-900Brazil Department of Agricultural Engineering Federal University of Vic¸osaVic¸osaMinas Gerais 36570-900Brazil

Apparent electrical conductivity is an important parameter for describing the spatial vari-ability of physical and chemical attributes of the soil and for the delineation of manage-ment *** objective of this work is to outline management zones for the cocoa cultivation based on the spatial variability of the productivity and the apparent electrical conductivity(ECa)of the *** collection was performed in a regular sample grid con-taining 120 points in an area cultivated with cocoa trees,located in the municipality of Ilhe´us,state of Bahia,*** each sampling point(cocoa tree),soil samples were col-lected to determine chemical *** was measured for one year,counting,monthly,the number of fruits,which were classified into off-season cocoa,harvest and annual *** of the apparent electrical conductivity of the soil were performed at different times of the year using a portable conductivity *** data were analyzed using classical statistics and *** management zones were delin-eated using the fuzzy k-means *** ideal number of class was defined using the fuzziness performance index(FPI)and the entropy of the modified partition(MPE)*** Kappa coefficient was used to validate the management zones,assessing their agreement with the chemical attributes of the *** ECa of the soil values pre-sented moderate temporal variation,with maximum amplitude of 19.37 mS m1 and min-imum of 0.82 mS m1 between measurement periods;higher averages of the ECa coincided with the highest levels of water in the *** measurements of the ECa of the soil carried out in April and October showed greater correlation with the chemical attributes of the soil,with significant values for 11 and 8 of the 17 attributes evaluated,*** man-agement zones from the ECa measured in April showed:a)reduced number of classes;b)spatial continuity between classes,and;c)agreement from reasonable(kappa between

关键词： Theobroma cacao Precision agriculture Spatial variability Fuzzy k-means

High-resolution patterns of palaeoenvironmental changes during the Little Ice Age and the Medieval Climate Anomaly in the northwestern Iberian Peninsula

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Geoscience Frontiers 2020年第5期11卷 1461-1475页

作者： Daniel Castro Martin Souto Maria Isabel fraga Eduardo Garcia-Rodeja Sebastian Perez-Diaz Jose Antonio Lopez Saez Xabier Pontevedra-Pombal Dpto.Botanica Fac.BioloxiaUniversidade de Santiago de CompostelaGaliciaSpain Dpto.Edafoloxia e Quimica Agricola Fac.BioloxiaUniversidade de Santiago de CompostelaGaliciaSpain Dpto.Geografia Urbanismo y Ordenacion Del TerritorioETS CaminosCanales y PuertosUniversidad de CantabriaSpain GI Arqueobiologia Instituto de HistoriaCCHS–CSICMadridSpain

to identify plant macrofossils,estimate peat humification and calculate hydroclimatic indices based on current bog species,with the overall aim of determining the climate conditions associated with evolution of the bog during the Medieval Climate Anomaly and the Little Ice *** proxies,together with historical and climate data,proved to be good indicators of the changes in bog surface ***:of the core led to identification of 9 different periods:two corresponding to the so-called Medieval Climate Anomaly(930 to 1345 AD,1075–665 calibrated years before present[*** BP]);four corresponding to the Little Ice Age(1345 to 1905 AD;665–105 cal yr BP);and three corresponding to the last century(1905 to 2000 AD).The findings revealed a generally dry climate that lasted until the 14th century,followed by a transition to a long period with a more humid,but characteristically very variable climate,which ended at the beginning of the 20th century and was followed by a rapid transition to more humid conditions and finally,a change to drier *** Medieval Climate Anomaly was indicated by the abundance of dry-adapted mosses(Leucobryum glaucum,Hypnum cupressiforme)and characterized by warm dry conditions and high levels of peat humification,with alternating wet *** LIA period was dated by a large abundance of Sphagnum species(an indicator of wetness)and a gradual increase in the humification ***,four different climate phases were differentiated in this ***-resolution reconstruction of the evolution of the CVM bog and the multiproxy approach have together enabled a more detailed identification of climatic variations in this area,which are generally consistent with the global models,as well as better definition of the elusive climatic oscillations in the last millennium and confirmation of the importance of local modulation of global *** study provides new information and a detailed chronology of climatic events that will hel

关键词： Last millennium Raised bog Plant macrofossil Humification analysis Southwest Europe Climate change

Classical and Non-Classical Celiac Disease Comparison: Ten Years of Study

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Open Journal of Pediatrics 2022年第2期12卷 309-319页

作者： Katia Regina Pena Schesquini-Roriz Jocelyn Cristina Betancourt Castellanos Laura Martinez Martinez Gloria Maria fraga Rodriguez Susana Boronat Guerrero Isabel Badell Serra Department of Pediatrics Hospital de La Santa Creu I Sant Pau Universitat Autònoma de Barcelona Barcelona Spain Department of Medicine Federal University of Rond&ocirc nia Porto Velho Brazil

Objective: Celiac disease (CD) is an immune-mediated systemic disorder triggered by gluten. It has a variable combination of clinical manifestations and changes that have been occurring in recent decades however they are not known in detail. The purpose of the article is to compare Classical and Non-Classical CD cases in terms of demographic characteristics, duodenal biopsy, extraintestinal manifestations, and associated comorbidities. Materials and Methods: A comparative retrospective cohort study from January 2008 to December 2018. Results: A total of 128 cases were included: 84 Classical (66%) and 44 Non-Classical CD (34%). The family history of CD was identified in 14% of cases without differences between groups. The age at diagnosis was distinct for Classical and Non-Classical CD (4.9 ± 4 and 8.3 ± 4 years old;p 0.001), respectively. Important changes were found within the classical presentation, including mono symptoms and a significantly higher rate of intestinal atrophy;p = 0.04. The main Non-Classical CD symptom was recurrent abdominal pain. The extraintestinal manifestations (EIM) were identified in 42% and occurred in both groups. The comparison between groups showed differences in rates of migraine and vitamin D deficiency and was higher for Non-Classical CD (p 0.05). Associated diseases occurred in 10.9%, and type 1 diabetes was significant for the Non-Classical CD group (p = 0.04). Conclusion: The classical CD was the most prevalent profile and presented a decrease in the severity of symptoms however remain a higher rate of intestinal atrophy. Recurrent abdominal pain was the main symptom of Non-Classical CD. Extraintestinal manifestations and associated diseases presented an increasing trend of occurrence among cases of Non-Classical CD.

关键词： Celiac Disease Gluten Allergy Extra-Intestinal Manifestation Disease Associated with Celiac Disease

Graphene's photonic and optoelectronic properties——A review

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Chinese Physics B 2020年第3期29卷 13-35页

作者： A J Wirth-Lima P P Alves-Sousa W Bezerra-fraga Department of Physics Federal Institute of EducationScience and Technology of Ceara Campus SobralCearaBrazil Postgraduate Program in Electrical Engineering and Computing Federal University of Ceara(U.F.C.)Sobral CearaBrazil

Due to its remarkable electrical and optical properties,graphene continues to receive more and more attention from researchers around the *** excellent advantage of graphene is the possibility of controlling its charge density,and consequently,the management of its conductivity and dielectric constant,among other *** is noteworthy that the control of these properties enables the obtaining of new optical/electronic devices,which would not exist based on conventional ***,to work in this area of science,it is necessary to have a thorough knowledge regarding the electrical/optical properties of *** this review paper,we show these graphene properties very well detailed.

关键词： absorbance conductivity dielecric constant dispersion relation

Comparative social rights:status and integration in the US

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China Population and Development Studies 2018年第1期2卷 32-56页

作者： Luis Ricardo fraga Bryan Wilcox-Archuleta University of Notre Dame Notre DameUSA University of California Los Angeles Los AngelesUSA

In this essay we develop a framework for better understanding how a focus on enhancing the social rights of immigrants and migrants can lead to greater levels of social incorporation for these groups into their destination countries and/or ***,we discuss how the concepts of social rights and incorporation have been used in the social sciences to understand migrants and ***,we critically discuss models of immigrant incorporation derived from studies of the US and Europe to demonstrate the value of developing comparative frameworks across distinct countries and ***,we develop and apply the categories of status and integration to discuss how social rights derived from public policy can serve to inhibit or facilitate the effective incorporation of immigrants and ***,we describe how subnational,state-level governments have become increasingly critical actors in affecting both status and integration in the United *** demonstrate that social rights and incorporation cannot be understood in the US today without an appreciation for variation across distinct state ***,we conclude with a consideration of how our analysis makes very clear that government officials are in key positions to determine the scope and depth of immigrant and migrant social rights and incorporation in ways that can simultaneously serve the long-term interests of immigrants,migrants,and the nation state as a whole.

关键词： Social rights Incorporation Immigrant Migrant Status Integration United States States Nation-state