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Congenitally Corrected Transposition of the Great Arteries: Conduction Anomalies: A Case Report

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World Journal of Cardiovascular Diseases 2021年第9期11卷 439-444页

作者： jose antonio luna-alvarez-amezquita Javier Ivan Armenta-Moreno Joaquin Berarducci Jorge Luis Bermudez-Gonzalez jose Luis Siller-Nava Edson Alberto Escandón-Villalobos Nilda Espinola-Zavaleta Roberto Cano-Zarate Juan Ignacio Straface Department of Nuclear Cardiology National Institute of Cardiology Ignacio Chavez Mexico City Mexico Department of Echocardiography ABC Medical Center I.A.P. Mexico City Mexico Department of Magnetic Resonance National Institute of Cardiology Ignacio Chavez Mexico City Mexico

Introduction: Congenitally corrected transposition of the great arteries (CCTGA) is a rare heart disease that encompasses an atrioventricular and ventriculoarterial discordance and accounts for less than 1 percent of congenital heart diseases. Objective: To present an atypical case of a man with complex congenital heart disease and conduction anomalies. Case Presentation: This is a case of a 34-year-old patient who came to the hospital with 1 week of dyspnea on exertion and episodes of lipothymia. The patient was referred to our hospital after an electrocardiogram from his primary care with evidence of blocked atrial fibrillation. During the initial evaluation blocked atrial fibrillation was confirmed with a rescue ventricular rate of 38 bpm. A magnetic resonance confirmed the presence of the atrioventricular and ventriculoarterial discordance, the aorta had a left anterior position, perimembranous ventricular septal defect with a right to left shunt, biventricular systolic dysfunction, moderate tricuspid, and mitral regurgitation, interventricular septal intramyocardial and biatrial fibrosis, left atrial dilation, and dilation of the pulmonary artery. After pacemaker placement, the patient has an improvement in his clinical symptoms and quality of life. Conclusions: Cardiac arrhythmias are CCTGA’s leading cause of death, mostly ventricular tachycardia, and atrial fibrillation. Right bundle branch block is a previously unreported and potentially very rare presentati

关键词： Congenital Heart Disease Congenitally Corrected Transposition of the Great Arteries Cardiac Magnetic Resonance Echocardiography Arrhythmia

Interferon Regulatory Factor 5 and Renin-Angiotensin-Aldosterone System Polymorphisms in Coronary Artery Disease: An Overview of Experimental and Clinical Studies

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World Journal of Cardiovascular Diseases 2021年第7期11卷 332-341页

作者： Jorge Luis Bermudez-Gonzalez Rodrigo Dagio-Cuellar Cristina Villarreal-Guerrero Ana Gilabert-Garcia Luis Angel Ferral-Barbabosa Joaquin Berarducci jose Luis Siller-Nava jose antonio luna-alvarez-amezquita Javier Iván Armenta-Moreno Nilda Espínola-Zavaleta Erick Alexanderson-Rosas Juan Ignacio Straface National Institute of Cardiology Ignacio Chavez Mexico City Mexico Medicine Faculty of National Autonomous University of Mexico Mexico City Mexico

Heart diseases are the main cause of mortality in Mexico, being coronary heart disease the most frequent in the country. Its high prevalence makes important the study of the pathophysiology and the search for prognostic factors. Different genes and polymorphisms promote atherogenesis and coronary artery disease, they affect inflammatory and vascular pathological processes. Interferon regulatory factor 5 (IRF5) is associated with coronary heart disease, it promotes chronic inflammation and cytokines release;it could trigger immune reactions and its activating receptors express in the vascular endothelium. Besides, polymorphisms in the renin-angiotensin-aldosterone system (RAAS) are implied with coronary disease, they are found in angiotensinogen (AGT), angiotensin II type 1 receptor (AT1R), angiotensin II type 2 receptor (AT2R), and angiotensin-converting enzyme (ACE) genes. These genetic polymorphisms are associated with a prothrombotic state, endothelial dysfunction, and immune activation. Multiple experimental studies showed that chronic activation of RAAS and chronic expression of IRF5 generates an environment prone to the development of atherosclerosis, and autoimmune and cardiovascular diseases. Studying these specific genes and their relationship with coronary heart disease will allow a better understanding of the pathological process and possibly the quest for new treatments.

关键词： Interferon Regulatory Factor 5 (IRF5) Angiotensin-Converting Enzyme (ACE) Angiotensinogen (AGT) Angiotensin II Type 1 Receptor (AT1R) Angiotensin II Type 2 Receptor (AT2R) Polymorphisms

Multi-omic study to unmask genes involved in prostate cancer development in amulti-case family

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Cancer Communications 2024年第3期44卷 443-447页

作者： Lucia Chica-Redecillas Sergio Cuenca-Lopez Eduardo Andres-Leon Laura Carmen Terron-Camero Blanca Cano-Gutierrez jose Manuel Cozar jose antonio Lorente Fernando Vazquez-Alonso Luis Javier Martinez-Gonzalez Maria Jesus alvarez-Cubero GENYO Centre for Genomics and Oncological ResearchPfizerUniversity of GranadaAndalusian Regional GovernmentPTS GranadaGranadaGranadaSpain Department of Biochemistry Molecular Biology III and ImmunologyFaculty of MedicineUniversity of GranadaPTS GranadaGranadaGranadaSpain Bioinformatics Unit Institute of Parasitology and Biomedicine“López-Neyra”Spanish National Research CouncilGranadaGranadaSpain Nursery Service.University Hospital Clínico San Cecilio GranadaGranadaSpain Urology Department University Hospital Virgen de las NievesGranadaGranadaSpain Legal Medicine and Toxicology Department Faculty of MedicineUniversity of GranadaPTS GranadaGranadaGranadaSpain Ibs Biosanitary Research InstituteGranadaGranadaSpain

Dear Editor,Hereditary prostate cancer(PC)comprises 5%-10%of all PC *** increased risk of PC in menwith a family his-tory of the disease is well known and is commonly caused by germline mutations,leading to clinical guidelines men-tioning various genes for identifying high-risk ***,the complex inheritance patterns involvingmul-tiple single nucleotide polymorphisms(SNPs)make it a genetically heterogeneous disease,with genetic testing still in its early stages.

关键词： cancer clinical cases

Analysing vaccine efficacy evaluated in phase 3 clinical trials carried out during outbreaks

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Infectious Disease Modelling 2024年第4期9卷 1027-1044页

作者： Francisco antonio Bezerra Coutinho Marcos Amaku Fernanda Castro Boulos jose Alfredo de Sousa Moreira Joao Italo DiasFranca Julio antonio do Amaral Eliana Nogueira Castro de Barros Claudio jose Struchiner Esper Jorge Kallas Eduardo Massad School of Medicine University of Sao PauloBrazil Instituto Butantan Sao PauloBrazil School of Applied Mathematics Fundacao Getulio VargasRio de JaneiroBrazil

In this paper we examine several definitions of vaccine efficacy(VE)that we found in the literature,for diseases that express themselves in outbreaks,that is,when the force of infection grows in time,reaches a maximum and then *** fact that the disease occurs in outbreaks results in several problems that we *** propose a mathematical model that allows the calculation of VE for several *** trials usually needs a large number of volunteers that must be ***,all volunteers should be enrolled in approximately the same time,but this is generally impossible for logistic reasons and they are enrolled in a fashion that can be replaced by a continuous density function(for example,a Gaussian function).The outbreak can also be replaced by a continuous density function,and the use of these density functions simplifies the ***,for example Gaussian functions,one of the problems one can immediately notice is that the peak of the two curves do not occur at the same *** model allows us to conclude:First,the calculated vaccine efficacy decreases when the force of infection increases;Second,the calculated vaccine efficacy decreases when the gap between the peak in the force of infection and the peak in the enrollment rate increases;Third,different trial protocols can be simulated with this model;different vaccine efficacy definitions can be calculated and in our simulations,all result are approximately the *** final,and perhaps most important conclusion of our model,is that vaccine efficacy calculated during outbreaks must be carefully examined and the best way we can suggest to overcome this problem is to stratify the enrolled volunteer's in a cohort-by-cohort basis and do the survival analysis for each cohort,or apply the Cox proportional hazards model for each cohort.

关键词： Vaccine efficacy Clinical trials Mathematical models Simulations Covid-19

Metastatic pancreatic and lung cancer patient in complete remission following immunotherapy: A case report and review of literature

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World Journal of Gastrointestinal Oncology 2024年第5期16卷 2233-2240页

作者： Joaquina Martínez-Galán Cristina Jiménez-luna Isabel Rodriguez Elisabeth Maza Carlos García-Collado antonio Rodríguez-Fernández Javier Luis López-Hidalgo Octavio Caba Department of Medical Oncology Virgen de las Nieves University HospitalGranada 18014Spain Instituto de Investigación Biosanitaria Ibs.GranadaGranada 18012Spain Institute of Biopathology and Regenerative Medicine(IBIMER) University of GranadaGranada 18016Spain Pharmacogenetics Unit Virgen de las Nieves University HospitalGranada 18014Spain Department of Medicina Nuclear Virgen de las Nieves University HospitalGranada 18014Spain Department of Anatomía Patológica Virgen de las Nieves University HospitalGranada 18014Spain

BACKGROUND Metastatic pancreatic ductal adenocarcinoma(PDAC)is a lethal malignancy with dispiriting survival *** is a promising approach to many cancer types,but achieves poor outcomes in advanced PDAC due to its immunosuppressive tumor *** describe a case of metastatic PDAC effectively treated with *** SUMMARY We report the case of a 67-year-old woman with unresectable locally advanced PDAC,treated with gemcitabine plus nab-paclitaxel followed by radiotherapy plus *** nine months,pancreatic tumor progression was observed at the level of the hepatic hilum with the appearance of a new pulmonary nodule suggestive of a second primary,confirmed by left lung *** immunotherapy was then initiated with pembrolizumab,an immune checkpoint inhibitor targeting programmed cell death protein-1 that covers the two tumor *** patient showed a complete metabolic response that was maintained throughout the *** patient continues to be disease-free at 5.6 years since the start of *** These results suggest that the administration of pembrolizumab after chemoradiotherapy has a beneficial effect in patients with metastatic *** our knowledge,this is the first reported case of a patient with metastatic PDAC and metastatic lung cancer showing such a long-lasting complete response after pembrolizumab treatment without curative *** studies are required to determine biomarkers that identify PDAC patients most likely to benefit from this immunotherapy.

关键词： Pancreatic ductal adenocarcinoma Lung cancer Immunotherapy Pembrolizumab Programmed cell death protein-1 Case report

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碳基固体氧化物燃料电池研究进展

洁净煤技术 2024年第1期30卷 239-264页

作者：张伟魏嘉璐 jose antonio Alonso 孙春文中国矿业大学(北京)化学与环境工程学院北京100083 Instituto de Ciencia de los Materiales de Madrid CSICCantoblanco-Madrid 28049Spain

随着人们对绿色能源和环境友好型社会需求的日益增长,先进能量转换装置或系统的研发亟待加速,而燃料电池系统被认为是最有希望的未来发电装置。在不同种类的燃料电池中,固体氧化物燃料电池(SOFCs)是一种清洁环保的发电装置,因其独特的... 详细信息

随着人们对绿色能源和环境友好型社会需求的日益增长,先进能量转换装置或系统的研发亟待加速,而燃料电池系统被认为是最有希望的未来发电装置。在不同种类的燃料电池中,固体氧化物燃料电池(SOFCs)是一种清洁环保的发电装置,因其独特的多燃料运行能力及能量转化效率高等优点而前景广阔。然而,传统使用镍-金属陶瓷阳极的SOFCs,在碳氢化合物燃料下运行时,由于燃料的不完全氧化会使阳极产生积碳,从而导致电池性能下降。讨论了碳基SOFC中碳沉积机理和解决阳极积碳的策略,重点介绍了目前广泛研究的具有混合离子-电子导体的双金属-金属陶瓷材料的种类以及研究进展,并总结了双金属-金属陶瓷材料的抗积碳机理,主要表现为降低阳极表面的碳沉积速率以及加速积碳的去除。还介绍了在还原性气氛中,钙钛矿材料中纳米粒子原位偏析的原理,并讨论了原位偏析所形成的纳米颗粒以及其与钙钛矿主体所形成的金属氧化物异质结构在抗积碳阳极中的应用。此外,还探究了多层阳极和单原子催化剂阳极在中温SOFCs中的应用。在燃料电池技术巨大进步的推动下,人们对可用于固定式发电的集成煤气化的燃料电池发电系统(IGFCs)产生了新的兴趣,该系统对于实现煤炭的清洁高效利用具有重要意义,该技术的关键依托于SOFCs的成熟度。最后,总结并指出了碳基SOFCs未来的一些研究方向。

关键词：固体氧化物燃料电池阳极材料碳氢燃料碳沉积整体煤气化燃料电池

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

New therapeutic strategy with extracorporeal membrane oxygenation for refractory hepatopulmonary syndrome after liver transplant: A case report

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World Journal of Transplantation 2024年第1期14卷 210-214页

作者： Belinda Sánchez Pérez María Pérez Reyes jose Aranda Narvaez Julio Santoyo Villalba jose antonio Perez Daga Claudia Sanchez-Gonzalez Julio Santoyo-Santoyo Hepatobiliary and Trasplantation Unit General and Digestive Surgery DepartmentUniversity Regional HospitalMalaga 29010Spain Department of General and Digestive Surgery Regional University Hospital of MalagaMalaga 29010Spain

BACKGROUND Due to the lack of published literature about treatment of refractory hepatopulmonary syndrome(HPS)after liver transplant(LT),this case adds information and experience on this issue along with a treatment with positive *** is a complication of end-stage liver disease,with a 10%-30%incidence in cirrhotic *** can reverse the physiopathology of this process and restore normal ***,in some cases,refractory hypoxemia persists,and extracorporeal membrane oxygenation(ECMO)can be used as a rescue therapy with good *** SUMMARY A 59-year-old patient with alcohol-related liver cirrhosis and portal hypertension was included in the LT waiting list for *** had good liver function(Model for End-Stage Liver Disease score 12,Child-Pugh class B7).He had pulmonary fibrosis and a mild restrictive respiratory pattern with a basal oxygen saturation of 82%.The macroaggregated albumin test result was>*** demonstrated a forced expiratory volume in one second(FEV1)of 78%,forced vital capacity(FVC)of 74%,FEV1/FVC ratio of 81%,diffusion capacity for carbon monoxide of 42%,and carbon monoxide transfer coefficient of 57%.He required domiciliary oxygen at 2 L/min(16 h/d).The patient was admitted to the intensive care unit(ICU)and extubated in the first 24 h,needing high-flow therapy and non-invasive ventilation and inhaled nitric oxide *** was needed after 72 *** to the non-response to supportive therapies,installation of ECMO was decided with progressive recovery after 9 *** was possible on the tenth day,maintaining a high-flow nasal cannula and de-escalating to conventional oxygen therapy after 48 *** was discharged from ICU on postoperative day(POD)20 with a 90%-92%oxygen *** recycling was needed twice for acute *** patient was discharged from hospital on POD 27 with no symptoms,with an 89%-90%oxygen *** Due to the favorable results observed,ECMO could bec

关键词： Liver transplantation Hepatopulmonary syndrome Refractory hypoxemia Treatment Extracorporeal membrane oxygenation Case report

Plant cell wall-mediated disease resistance:Current understanding and future perspectives

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Molecular Plant 2024年第5期17卷 699-724页

作者： antonio Molina Lucıa Jorda Miguel Angel Torres Marina Martın-Dacal Diego jose Berlanga Patricia Fernandez-Calvo Elena Gomez-Rubio Sonsoles Martın-Santamarıa Centro de Biotecnología y Genómica de Plantas Universidad Politécnica de Madrid(UPM)-Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria(INIA/CSIC)Campus de Montegancedo UPMPozuelo de Alarcon(Madrid)Spain Departamento de Biotecnologıa-Biología Vegetal Escuela Técnica Superior de Ingenierıa AgronomicaAlimentarıa y de BiosistemasUPMMadridSpain Centro de Investigaciones Biologicas Margarita Salas Consejo Superior de Investigaciones Científicas(CSIC)Ramiro de Maeztu 928040 MadridSpain Misión Biológica de Galicia Consejo Superior de Investigaciones Científicas(CSIC)Campus de Montegancedo UPMPozuelo de Alarcón(Madrid)Spain

Beyond their function as structural barriers,plant cell walls are essential elements for the adaptation of plants to environmental *** walls are dynamic structures whose composition and integrity can be altered in response to environmental challenges and developmental *** wall changes are perceived by plant sensors/receptors to trigger adaptative responses during development and upon stress *** cell wall damage caused by pathogen infection,wounding,or other stresses leads to the release of wall molecules,such as carbohydrates(glycans),that function as damage-associated molecular patterns(DAMPs).DAMPs are perceived by the extracellular ectodomains(ECDs)of pattern recognition receptors(PRRs)to activate pattern-triggered immunity(PTI)and disease ***,glycans released from the walls and extracellular layers of microorganisms interacting with plants are recognized as microbe-associated molecular patterns(MAMPs)by specific ECD-PRRs triggering PTI *** number of oligosaccharides DAMPs/MAMPs identified that are perceived by plants has increased in recent ***,the structural mechanisms underlying glycan recognition by plant PRRs remain ***,this knowledge is mainly focused on receptors of the LysM-PRR family,which are involved in the perception of various molecules,such as chitooligosaccharides from fungi and lipo-chitooligosaccharides(i.e.,Nod/MYC factors from bacteria and mycorrhiza,respectively)that trigger differential physiological ***,additional families of plant PRRs have recently been implicated in oligosaccharide/polysaccharide *** include receptor kinases(RKs)with leucine-rich repeat and Malectin domains in their ECDs(LRR-MAL RKs),Catharanthus roseus RECEPTOR-LIKE KINASE 1-LIKE group(CrRLK1L)with Malectin-like domains in their ECDs,as well as wall-associated kinases,lectin-RKs,and *** characterization of structural basis of glycans recogniti

关键词： Arabidopsis thaliana cell wall damage-associated molecular patterns DAMPs disease resistance glycans oligosaccharides pattern-triggered immunity PTl pattern recognition receptor PRRs