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DLST mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation andmetabolic remodeling

Cancer Communications 2023年第7期43卷 838-843页

作者： Sara Mellid Fernando García Luis Javier Leandro-García Alberto Díaz-Talavera Ángel mario martínez-Montes Eduardo Gil Bruna Calsina maría Monteagudo Rocío Letón juan maría roldán-romero maría Santos Javier Lanillos Carlos Valdivia natalia martínez-Puente Javier de nicolás-Hernández Scherezade Jiménez Manuel Pérez-martínez Emiliano Honrado Javier Coloma Ana Cerezo Clara maría Santiveri Manel Esteller Ramón Campos-Olivas Eduardo Caleiras Cristina Montero-Conde Cristina Rodríguez-Antona Javier Muñoz Mercedes Robledo Alberto Cascón Hereditary Endocrine Cancer Group Spanish National Cancer Research Centre(CNIO)MadridSpain Proteomics Unit Spanish National Cancer Research Centre(CNIO)MadridSpain Centro de Investigación Biomédica en Red de Enfermedades Raras(CIBERER) MadridSpain Monoclonal Antibodies Core Unit Spanish National Cancer Research Centre(CNIO)MadridSpain Confocal Microscopy Core Unit Spanish National Cancer Research Centre(CNIO)MadridSpain Anatomical Pathology Service Hospital of LeónLeónCastilla y LeónSpain Structural Biology Programme Spanish National Cancer Research Centre(CNIO)MadridSpain CnIO-Lilly Cell Signalling and Immunometabolism Section Spanish National Cancer Research Centre(CNIO)MadridSpain Spectroscopy and nuclear Magnetic Resonance Unit Spanish National Cancer Research Centre(CNIO)MadridSpain Josep Carreras Leukaemia Research Institute(IJC) BadalonaBarcelonaSpain Centro de Investigacion Biomedica en Red Cancer(CIBEROnC) MadridSpain Institucio Catalana de Recerca i Estudis Avançats(ICREA) BarcelonaSpain Physiological Sciences Department School of Medicine and Health SciencesUniversity of Barcelona(UB)L’HospitaletBarcelonaSpain Histopathology Core Unit Spanish National Cancer Research Centre(CNIO)MadridSpain Cell Signaling and Clinical Proteomics Group Biocruces Bizkaia Health Research InstituteBarakaldoSpain Ikerbasque Basque Foundation for ScienceBilbaoSpain

Dear Editor,Of all human tumors,pheochromocytomas and paragangliomas(PPGLs)have the highest heritability *** 15%of PPGLs harbor mutations in genes encoding tricarboxylic acid(TCA)cycle-related enzymes that cause oncometabolite accumulation and drive tumorigenesis via metabolic adaptation to hypoxia and global hypermethylation[1].The dihydrolipoamide S-succinyltransferase(DLST)gene was recently described as a new PPGL susceptibility gene[2].

关键词： glioma remodeling cytoma

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Clinical profile and outcomes in very elderly patients with atrial fibrillation anticoagulated with rivaroxaban: data from the EMIR study

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Journal of Geriatric Cardiology 2024年第7期21卷 723-732页

作者： Francisco marín Manuel Anguita Sánchez Iñaki Lekuona marcelo Sanmartín Fernán-dez Vivencio Barrios Carlos Perez Muñoz juan Cosín-Sales Alejandro IPérez Cabeza Vanesa roldán Schilling Carles Rafols Priu Esteban Orenes-Piñero maría Asunción Es-teve-Pastor Department of Cardiology Hospital Clínico Universitario Virgen de la ArrixacaIMIB-ArrixacaUniversity of MurciaCIBERCVMurciaSpain Department of Cardiology Hospital Reina Sofía CórdobaIMIBICUniversity of CordobaCIBERCVCórdobaSpain Hospital Galdakao-Usansolo BizkaiaSpain Department of Cardiology Hospital Uni-versitario Ramony CajalCIBERCVMadridSpain Department of Cardiology University Hospital Ramóny CajalAl-caláUniversityMadridSpain Medical Center La Capillita Sanlúcar de Barrameda.Private cardiology clinicJerez de la FronteraSpain Department of Cardiology Hospital Arnau de VilanovaValenciaSpain Department of Car-diology Virgen de la Victoria University HospitalCIBERCV.MalagaSpain Department of Haematology Hospital Clínico Universitario Virgen de la ArrixacaUniversity of MurciaMurciaSpain Department of Medical Affairs Bayer HispaniaBarcelonaSpain Department of Biochemistry and Molecular Biology-A University of MurciaMurciaSpain

Objectives To analyze the clinical profile,adequacy of treatment with rivaroxaban and outcomes in octogenarians with atrial(AF),taking rivaroxaban in clinical *** Out of 1433 patients,453(31.6%)were octogenarians at *** to younger patients,octogenarians had more comorbidities,higher CHA2DS2-VASc(4.5±1.3vs.3.0±1.4;Pnd HAS-BLED scores(2.0±1.0vs.1.4±1.0;Pn was adequately prescribed in 83.4%of patients,but more frequently in the younger population(71.1%vs.89.1%;P=0.039).After a mean follow-up of 2.2±0.6 years,annual rates of stroke+systemic embolism+transient ische-mic attack,MACE,cardiovascular death and major bleeding were 1.03%,1.24%,1.03%and 1.75%,respectively,in octogenarian *** for progressive heart failure death and major bleeding,rates of outcomes in octogenarians were similar com-pared to younger *** octogenarians,the concomitant use of antiplatelet agents and non-severe dementia were independ-ently associated with the development of ischemic stroke,whereas previous coronary revascularization and heart failure with and higher HAS-BLED score with major ***,Conclusions In clinical practice,around one third of patients taking rivaroxaban are *** patients have many comorbidities and a high thromboembolic *** that,rates of adverse events remain *** is adequately pre-scribed in the majority of octogenarians.

关键词： patients atrial bleeding

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The Iberian Roma Population Variant Server(IRPVS)

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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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Clinicopathological differences,risk factors and prognostic scores for western patients with intestinal and diffuse-type gastric cancer

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World Journal of Gastrointestinal Oncology 2022年第6期14卷 1162-1174页

作者： Cristina Díaz del Arco Lourdes Estrada Muñoz Luis Ortega Medina Elena Molina roldán MÁngeles Cerón nieto Soledad García Gómez de las Heras M Jesús Fernández Aceñero Department of Surgical Pathology Hospital Clínico San CarlosMadrid 28040Spain Department of Legal Medicine Psychiatry and PathologyComplutense University of MadridMadrid 28040Spain Department of Surgical Pathology Hospital Rey Juan CarlosMadrid 28933Spain Department of Basic Medical Sciences Rey Juan Carlos UniversityMadrid 28933Spain

BACKGROUnD In the molecular era,the Laurén system is still a cost-effective and widely implemented classification for gastric cancer(GC)and it has been recently associated with clinical,histological and molecular features of these *** recent advances in the understanding of the molecular biology of GC,there is a need to develop new prognostic tools for patient stratification in clinical ***,the identification of easily available prognostic factors in patients with intestinal and diffuse-type tumors can significantly improve risk assessment and patient stratification in *** To identify clinicopathological differences,risk factors,and to develop costeffective prognostic scores for patients with intestinal and diffuse-type *** Retrospective study of all patients undergoing surgery for GC at a tertiary referral center from 2001 to 2019.286 cases met inclusion criteria(intestinal:190,diffuse:96).Clinical data and gross findings were *** specimens were reviewed by two independent pathologists and a detailed protocol for histologic evaluation was *** tissue microarrays(TMAs)were constructed and sections of the TMA block were immunostained for HERCEPTEST,MSH2,MSH6,MLH1 and *** analyses were performed and prognostic scores were developed based on hazard *** Intestinal and diffuse-type GC showed different epidemiological,clinicopathological and prognostic *** tumors were significantly associated with younger age,less symptomatology,flat morphology,deeper invasion,perineural infiltration,advanced stage at diagnosis,administration of adjuvant therapy and poorer *** lesions were fungoid or polypoid,showed necrosis,desmoplasia,microsatellite instability and HERCEPTEST positivity and were diagnosed at earlier *** depth,desmoplasia,macroscopic type and lymph node involvement were independently related to the Laurén ***,intestinal and diffuse GC were asso

关键词： Gastric cancer Clinicopathological Score Prognosis Laurén Molecular

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Violence at work and its relationship with burnout, depression and anxiety in healthcare professionals of the emergency services

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Health 2013年第2期5卷 193-199页

作者： Gloria M. roldán Isabel C. Salazar Laura Garrido juan M. Ramos “La Caleta” Healthcare Center Granada Spain “Virgen de las nieves” University Hospital Granada Spain University of Granada Granada Spain

The aim of this study was to examine the possible relationship between physical and psychological aggression suffered in the workplace and professional burnout, depression and anxiety suffered by healthcare professionals of the emergency services. Methods: 315 physicians, nurses, orderlies and ambulance drivers of Critical Care and Emergency Devices (CCED) in the Andalusian Public Health System, in the province of Granada (Spain) participated. They were interviewed about the exposure to violence at work and answered a battery of questions that measured burnout, depression and anxiety. Results: Physical aggression was significantly related to emotional exhaustion, personal accomplishment at work, depression and anxiety. Psychological aggression was associated with personal accomplishment. Logistic regression showed that the CCED professionals who have suffered physical aggression were 4.2 and 2.6 times more likely to have suffered anxiety and reduced personal accomplishment, respectively, than those who did not suffer physical aggression. On the other hand, feelings of anxiety and reduced personal accomplishment increase the professionals’ risk (3.4 and 2.1 times more likely, respectively) of suffering from physical aggression. Conclusion: The results suggest that exposure to violence is related to the other psychological problems tested: emotional exhaustion and personal accomplishment (two components of burnout), depression and anxiety. In addition, physical violence is a risk factor for anxiety and diminished personal accomplishment of the CCED professionals.

关键词： Workplace Violence Aggression Burnout Depression Anxiety Health Professionals Emergency Services

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