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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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A multi-shot target wheel assembly for high-repetition-rate, laser-driven proton acceleration

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High Power Laser Science and Engineering 2024年第2期 91-98页

作者： J.Pe?as A.Bembibre D.Cortina-Gil L.Martín A.Reija C.Ruiz M.Seimetz A.Alejo J.Benlliure instituto galego de Física de Altas Enerxías Universidade de Santiago de Compostela Laboratorio Láser de Aceleración y Aplicaciones RIAIDT Universidade de Santiago de Compostela instituto Universitario de Física Fundamental y Matemáticas y Dpto.de Didáctica de la Matemática y de las Ciencias Experimentales Universidad de Salamanca instituto de Instrumentación para Imagen Molecular (I3M) CSIC-Universitat Politècnica de València

A multi-shot target assembly and automatic alignment procedure for laser–plasma proton acceleration at high repetition rate are introduced. The assembly is based on a multi-target rotating wheel capable of hosting more than 5000 targets,mounted on a 3D motorized stage to allow rapid replenishment and alignment of the target material between laser irradiations. The automatic alignment procedure consists of a detailed mapping of the impact positions at the target surface prior to the irradiation that ensures stable operation of the target, which alongside the purpose-built design of the target wheel, enables operation at rates up to 10 Hz. Stable and continuous laser-driven proton acceleration at 10 Hz is demonstrated, with observed cut-off energy stability about 15%.

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A multi-shot target wheel assembly for high-repetition-rate, laser-driven proton acceleration

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High Power Laser Science and Engineering 2024年第2期12卷 87-94页

作者： J.Penas A.Bembibre D.Cortina-Gil L.Martin A.Reija C.Ruiz M.Seimetz A.Alejo J.Benlliure instituto galego de Fisica de Altas Enerxias Universidade de Santiago de CompostelaSantiago de CompostelaSpain Laboratorio Laser de Aceleracion y Aplicaciones RIAIDTUniversidade de Santiago de CompostelaSantiago de CompostelaSpain instituto Universitario de Física Fundamental y Matematicas y Dpto.de Didactica de la Matematica y de las Ciencias Experimentales Universidad de SalamancaSalamancaSpain instituto de Instrumentación para Imagen Molecular(I3M) CSIC-Universitat Politecnica de ValenciaValenciaSpain

A multi-shot target assembly and automatic alignment procedure for laser–plasma proton acceleration at high repetition rate are *** assembly is based on a multi-target rotating wheel capable of hosting more than 5000 targets,mounted on a 3D motorized stage to allow rapid replenishment and alignment of the target material between laser *** automatic alignment procedure consists of a detailed mapping of the impact positions at the target surface prior to the irradiation that ensures stable operation of the target,which alongside the purpose-built design of the target wheel,enables operation at rates up to 10 *** and continuous laser-driven proton acceleration at 10 Hz is demonstrated,with observed cut-off energy stability about 15%.

关键词： high repetition rate laser-plasma acceleration multi-shot operation proton source target assembly

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增殖性糖尿病视网膜病变、增殖性玻璃体视网膜病变和视网膜脱离患者玻璃体腔戊糖素的浓度比较

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世界核心医学期刊文摘(眼科学分册) 2006年第4期 43-44页

作者： Capeans Tomé C. de Rojas Silva M.V. Rodrguez-Garca J. 曹绪胜 fundación instituto galego de oftalmoloxa Hospital Provincial de Conxo Rúa Ramón Baltar s/n 15706 Santiago de Compostela Spain

Background: Advanced glycosylation end products (AGEs)-are thought to play an important role in the pathophysiology of diabetes. Particularly, these products have been implicated in the pathogenesis of proliferative diabetic retinopathy. The majority of these products are formed from a vast range of precursor molecules, the variable chemical nature of which contributes to AGE heterogeneity. There is a growing population of structurally defined AGE adducts such as pyrraline, pentosidine, CML and crossline that have been found to be elevated in diabetic tissues. In the present study, the levels of the glycoxidation product pentosidine were determined in vitreous samples obtained during vitrectomy from eyes with proliferative diabetic retinopathy (PDR), proliferative vitreoretinopathy (PVR), and retinal detachment (RD). Samples from cadaveric control eyes were also included in the study. The levels of pentosidine were compared among the groups. Methods: Seventy-three vitreous samples were collected from eyes undergoing vitrectomy for PDR (n=33), PVR (n=28) and RD (n=12). Eighteen samples from cadaveric control eyes were also included in the study. A modified Bradford’s method was used to assay protein content, and vitreous levels of pentosidine were determined by high-performance liquid chromatography after acid hydrolysis and pretreatment with SP-Sephadex. Statistical analyses were performed using a two-sided Mann-Whitney U test. Results: The levels of pentosidine [median (interquartile range)]were 0.92 (0.55-1.26) pmol/mg of protein in the PDR cases, 1.12 (0.46-1.80) pmol/mg of protein in PVR, and 1.02 (0.24-1.44) pmol/mg of protein in RD. In the cadaveric control eyes pentosidine levels were 0.97 (0.68-1.30) pmol/mg of protein. The pentosidine levels of the four groups did not differ significantly. Conclusions: The levels of the glycoxidation product pentosidine (expressed as pmol/mg of protein) in the vitreous of eyes with PDR do not differ significantly from those

关键词：增殖性玻璃体视网膜病变糖尿病视网膜病变视网膜脱离戊糖五碳糖单糖患者

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Holographic Duals of Quark Gluon Plasmas with Unquenched Flavors

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Communications in Theoretical Physics 2012年第3期57卷 364-386页

作者： Francesco Bigazzi Aldo Cotrone Javier Mas Daniel Mayerson Javier Tarrio Dipartimento di Fisica e Astronomia Universita' di Firenze Via G.Sansone 1 I-50019 Sesto Fiorentino (Firenze)Italyand INFNSezione di PisaLargo B.Pontecorvo356127 PisaItaly Dipartimento di Fisica Universita' di Torino and INFN Sezione di Torino Via P.Giuria 1 I-10125 TorinoItaly departamento de F' sica de Part' culas Universidade de Santiago de Compostela and Instituto Galego de F' sica de Altas Enerx' as (IGFAE) E-15782 Santiago de CompostelaSpain Institute for Theoretical Physics University of AmsterdamScience Park 904Postbus 944851090 GL AmsterdamThe Netherlands Institute for Theoretical Physics Universiteit Utrecht3584 CEUtrechtThe Netherlands

We review the construction of gravitational solutions holographically dual to n=1 quiver gauge theories with dynamical flavor *** focus on the D3-D7 construction and consider the finite temperature,finite quark chemical potential case where there is a charged black hole in the dual *** physical outputs of the model include its thermodynamics (with susceptibilities) and general hydrodynamic properties.

关键词： AdS/CFT correspondence quark-gluon plasma flavor physics finite baryon density

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Mitochondrial DnA as a Risk Factor for False Positives in Case-Control Association Studies

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Journal of Genetics and Genomics 2015年第4期42卷 169-172页

作者： Antonio Salas Joanna L.Elson Unidade de Xenética Instituto de Medicina Legaland Departamento de Anatomía Patolóxica e Ciencias ForensesFacultad de MedicinaUniversidad de Santiago de CompostelaGalicia 15782Spain Mitochondrial Research Group Institute of Genetic MedicineCentre for LifeNewcastle University Centre for Human Metabolomics North-West University

During the last decade, hundreds of studies have been pub- lished examining whether significant associations exist be- tween mitochondrial DnA （mtDnA） variants and/or haplogroups （clades） and particular diseases （generally com- mon/complex diseases）（Fig. 1）. However, several authors have gathered evidence indicating a high incidence of false positive findings in mtDnA case-control association studies. Raule et al. （2007） and Herrnstadt and Howell （2004） showed various problems affecting mtDnA case-control association studies. Salas et al.

关键词： DnA Mitochondrial DnA as a Risk Factor for False Positives in Case-Control Association Studies

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Evaluation of Mean Crystallite Size on Magnetic Powder by Scanning Electron Microscopy and Synchrotron Diffractometry

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Materials Sciences and Applications 2014年第8期5卷 504-511页

作者： Eguiberto galego Marilene Morelli Serna Rubens nunes de Faria Junior instituto de Pesquisas Energéticas e nucleares IPEN-CNENSao PauloBrazil

This paper presents the results of investigations carried out with Pr-based magnetic powders. The magnetically hard powders were produced from homogenised alloys using a high temperature hydrogen pulverization process. Alloys and powders were investigated by scanning electron microscopy and by energy dispersive X-ray analysis. Mean crystallite size of the pulverized material was estimated using synchrotron powder diffractometry and the Scherrer method. A comparison between these two investigation techniques has been carried out. The effects of copper on the properties of the magnetic powders have been studied. It has been shown that the addition of this alloying element had a marked effect on the microstructure of the powders.

关键词： Rare Earth Alloys Magnetic Powders Hydrides Synchrotron Radiation

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Comprehensive Analysis of Pan-African Mitochondrial DnA Variation Provides new Insights into Continental Variation and demography

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Journal of Genetics and Genomics 2016年第3期43卷 133-143页

作者： Maria Cerezo Leonor Gusmao Viktor Cerny nabeel Uddin denise Syndercombe-Court Alberto Gdmez-Carballa Tanja Gobel Peter M. Schneider Antonio Salas Unidade de Xenetica Departamento de Anatomia Patoloxica e Ciencias Forenses Instituto de Medicina Legal Facultade de Medicina Universidade de Santiago de Compostela Galicia 15782 Spain The Wellcome Trust Sanger Institute Hinxton CBIO 1SA UK DnA Diagnostic Laboratory Institute of Biology State University of Rio de Janeiro Rio de Janeiro 20550-900 Brazil IPATIMUP Institute of Molecular Pathology and Immunology of the University of Porto Porto 4200-465 Portugal Archaeogenetics Laboratory Institute of Archaeology of the Academy of Sciences of the Czech Republic Prague 118-01 Czech Republic Faculty of Life Sciences and Medicine King's College London London SE1 9NH UK Barts and The London School of Medicine and dentistry Blizard Institute London E1 2AT UK Institute of Legal Medicine Medical Faculty University of Cologne Cologne D-50823 Germany

Africa is the cradle of all human beings, and although it has been the focus of a number of genetic studies, there are many questions that remain unresolved. We have performed one of the largest and most comprehensive meta-analyses of mitochondrial DnA （mtDnA） lineages carried out in the African continent to date. We generated high-throughput mtDnA single nucleotide polymorphism （SnP） data （230 SnPs） from 2024 Africans, where more than 500 of them were additionally genotyped for the control region. These data were analyzed together with over 12,700 control region profiles collected from the literature, representing more than 300 population samples from Africa. Insights into the African homeland of humans are discussed. Phylogeographic patterns for the African continent are shown at a high phylogeographic resolution as well as at the population and regional levels. The deepest branch of the mtDnA tree, haplogroup L0, shows the highest sub-haplogroup diversity in Southeast and East Africa, suggesting this region as the homeland for modem humans. Several demographic estimates point to the coast as a facilitator of human migration in Africa, but the data indicate complex patterns, perhaps mirroring the effect of recent continental-scaled demographic events in re-shaping African mtDnA variability.

关键词： mtDnA Haplotype Haplogroup SnP MALDI-TOF

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圆锥角膜患者泪液中的炎性分子

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世界核心医学期刊文摘（眼科学分册） 2005年第11期1卷 52-52页

作者： Lema I. Durán J.A. 张少娟 Inst. galego de oftalmoloxa Hospital de Conxo Santiagode Compostela 15706 SpainDr.

Purpose: To determine levels of a panel of inflammatory molecules andmatrix me talloproteinases in the tears of patients with keratoconus. design: A prospectiv e, case-co- ntrol study. Participants: Twenty-eight patients (1 eye from each) diagnosed with keratoconus at the instituto galego de oftalmoloxa, Santiago deCompostela, Spain, during the period from September 2001 to June 2002, and 20 normal control subjects (1 eye each) were studied. Methods: Patients with keratoconus were exa mined in a routine fashion, and keratometric readings were taken to monitor the degree of ectasia. Fifteen microliters of tears was collected by capillary flow from each eye. Main Outcome Measures: The concentrations of cytokines (interleuk in-4 [IL-4], IL-6, IL-10, and tumor necrosis factor α[TnF-α]), cell a dhes ionmolecules (intercellular adhesion molecule 1 and vascular cell adhesion molec ule 1), and matrix metalloproteinase 9 (MMP-9) were measured by enzyme-linked immunoadsorbent assay. Results: Patients with keratoconus initially had signific antly higher levels of IL-6 (6.7 [4.8-10.8] pg/ml vs. 2.2 [1.0-4.1] pg/ml in control subjects [PnF-α(3.8 [2.9-14.4] pg/ml vs. 1.8 [1.5- 2.3] pg/ml in control subjects [Pnd MMP-9 (66.5 [49.2-139.3]ng/ml vs. 6.1 [3.9-8.3] ng/ml in control subjects. The extent of the increase was found t o be associated with the severity of keratoconus. Conclusions: Interleukin-6, T nF-α, and MMP-9 are overexpressed in the tears of patients with keratoconus, indicating that the pathogenesis of keratoconus may involve chronic inflammatory events.

关键词：圆锥角膜细胞间黏附分子肿瘤坏死因子α 角膜扩张细胞因子角膜曲率金属蛋白酶常规检查病例对照研究慢性炎症

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Umbilical cord as a mesenchymal stem cell source for treating joint pathologies

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World Journal of Orthopedics 2011年第6期2卷 43-50页

作者： María Carmen Arufe Alexandre de la Fuente Isaac Fuentes Francisco Javier de Toro Francisco Javier Blanco department of Medicine Area of Anatomy and Human EmbryologyCampus Oza s/nFac.of Health ScienceUniversity of A Coruna15006 A CorunaSpain Osteoarticular and Aging Research Lab Cellular Therapy UnitINIBIC-CH Universitario A Coruna15006 A CorunaSpain Rheumatology Division INIBIC-CH Universitario A Coruna15006 A CorunaSpain Cathedra Bioiberica Universidad de A Coruna15006 A CorunaSpain CIBER-BBn-instituto de Salud Carlos III 15006 A CorunaSpain Centro de Investigacion Biomedica Hospital Universitario A CorunaC/Xubias 8415006 A CorunaSpain

Articular cartilage disorders and injuries often result in life-long chronic pain and compromised quality of ***,the regeneration of articular cartilage is a continuing challenge for biomedical *** of the most promising therapeutic approaches is cellbased tissue engineering,which provides a healthy population of cells to the injured site but requires differentiated chondrocytes from an uninjured *** use of healthy chondrocytes has been found to have limitations.A promising alternative cell population is mesenchymal stem cells(MSCs),known to possess excellent proliferation potential and proven capability for differentiation into ***“immunosuppressive”property of human MSCs makes them an important candidate for allogeneic cell *** use of allogeneic MSCs to repair large defects may prove to be an alternative to current autologous and allogeneic tissue-grafting *** allogeneic cell-based approach would enable MSCs to be isolated from any donor,expanded and cryopreserved in allogeneic MSC banks,providing a readily available source of progenitors for cell replacement *** possibilities have spawned the current exponential growth in stem cell research in pharmaceutical and biotechnology *** objective in this review is to summarize the knowledge about MSCs from umbilical cord stroma and focus mainly on their applications for joint pathologies.

关键词： Human Mesenchymal stem cell Umbilical cord Cartilage degeneration

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