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Fabry Disease: Update, Focusing on Heart Disease by Multimodal Imaging

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World Journal of Cardiovascular Diseases 2024年第6期14卷 351-362页

作者： Adrian Espejel-Guzman Emily Rodríguez Valente Fernandez-Badillo javier serrano-roman Aldo Cabello-Ganem Alexis Daniel Aparicio-Ortiz Alberto Ramon-Rios Mariali Palacios-Cruz Nilda Espinola-Zavaleta Department of Nuclear Cardiology. National Institute of Cardiology Ignacio Chavez Mexico City Mexico ABC Medical Center IAP Department of Echocardiography Mexico City Mexico

Fabry disease (FD) is a rare X-linked lysosomal accumulation disorder caused by a deficiency in the enzyme alpha-galactosidase A (Gal A), resulting in excessive storage of glycosphingolipids, particularly globotriaosylceramide (Gb3). This leads to cellular dysfunction in various organs, with cardiovascular compromise being the major cause of morbidity and mortality. This study aimed to provide a comprehensive overview of FD focusing on its genetic, epidemiological, clinical, diagnostic, and therapeutic aspects. This study explored the genetic mutations associated with FD, its epidemiology, clinical phenotypes, cardiac manifestations, diagnostic approaches, and current treatment options. Background: FD is caused by mutations in GLA on the X chromosome, with over 1000 identified variants. Neonatal screening and specific studies have shown an increased incidence of FD. The clinical presentation varies between classic and late phenotypes, with cardiac involvement being a major concern, particularly in late-onset FD. Purpose: This study aimed to summarize the current knowledge on FD, emphasizing cardiac involvement, diagnostic modalities, and treatment options. Methods: A literature review of relevant studies on FD, including genetics, epidemiology, clinical presentation, diagnostic methods, and treatment options, was conducted. Results: Cardiac manifestations of FD included left ventricular hypertrophy (LVH), heart failure, arrhythmias, and sudden death. Diagnostic approaches such as electrocardiography, echocardiography, and cardiac magnetic resonance imaging play crucial roles in the early detection and monitoring of cardiac involvement. Enzyme replacement therapy (ERT) and emerging treatments have shown promise in managing FD, although challenges remain. Conclusions: FD remains a challenging condition in cardiology, with under-diagnosis being a concern. Early detection and specific therapy are essential to improve patient outcomes. Echocardiography and cardiac MRI ar

关键词： Fabry Disease Hypertrophic Cardiomyopathy Echocardiography Cardiac Magnetic Resonance Imaging Enzyme Replacement Therapy

Mechanical Complications after Myocardial Infarction: A Comprehensive Review

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Fabry Disease: Update, Focusing on Heart Disease by Multimodal Imaging

World Journal of Cardiovascular Diseases（心血管病） 2024年第1期

作者： Alexis D.Aparicio-Ortiz María Natalia Alonso-Jimenez Adrian Espejel-Guzman Aldo Cabello-Ganem javier serrano-roman Santiago Luna-Alcala Nilda Espinola-Zavaleta

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Long Term Follow-Up of Cardiotoxicity in Breast Cancer Treatment: A Case Report

World Journal of Cardiovascular Diseases（心血管病） 2024年第6期 351页

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World Journal of Cardiovascular Diseases 2023年第3期13卷 130-137页

作者： Jose Luis Siller-Nava Adrian Espejel-Guzman javier serrano-roman Aldo Cabello-Ganem Alexis D. Aparicio Ortiz Nilda Espinola-Zavaleta Department of Nuclear Cardiology National Institute of Cardiology Ignacio Chavez Mexico City Mexico Mexican Social Security Institute IMSS Mexico City Mexico Department of Echocardiography ABC Medical Center I.A.P. Mexico City Mexico

Background: Cardiac toxicity is currently defined as a symptomatic decrease in Left Ventricular Ejection Fraction (LVEF) of more than 5% or an asymptomatic decrease of at least 10% to a value of under 50% in repeated evaluations on conventional transthoracic echocardiogram (TTE), as well as a Global Longitudinal Strain (GLS) value Aims: To highlight using GLS rather than modified Simpson 2D-LVEF for the evaluation of long-term cardiotoxicity. Case Presentation: The case concerns a 73-year-old female patient with a history of breast cancer chemotherapy and anthracyclines-based therapy who presented symptoms of late cardiac toxicity related to the chemotherapeutic treatment. In the following years, the patient remained asymptomatic with a 2D-LVEF of 48%, dilation of the left atrium was found, and the reservoir phase strain was severely decreased. Conclusion: The preferred method for evaluating cardiovascular complications associated with chemotherapy is the TTE, which is performed prior to the start of treatment, during therapy, and in the follow-up. Myocardial deformation as a predictor of cardiotoxicity allows the identification of subclinical heart failure.

关键词： Cardiotoxicity Breast Cancer Global Longitudinal Strain Left Ventricular Ejection Fraction Heart Failure

An Unusual Presentation of Aortic Dissection and Aneurysmatic Disease in Marfan Syndrome: A Case Report

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World Journal of Cardiovascular Diseases 2022年第6期12卷 297-303页

作者： Adrian Espejel-Guzman Valente Fernandez-Badillo javier serrano-roman Enrique Solorzano-Pinot Sergio Criales-Vera Maria Del Carmen Lopez-Rodriguez Candace Keirns Daniel Zagal-Cardoso Nilda Espinola-Zavaleta Department of Nuclear Cardiology National Institute of Cardiology Ignacio Chavez Mexico City Mexico Department of Computed Tomography National Institute of Cardiology Ignacio Chavez Mexico City Mexico Department of Clinical Cardiology National Institute of Cardiology Ignacio Chavez Mexico City Mexico Shelby County Health Department Memphis TN USA Department of Echocardiography ABC Medical Center I.A.P. Mexico City Mexico

Marfan’s syndrome (MFS) is an autosomal dominant disorder characterized by aortic root dilation, mitral valve prolapse and aortic regurgitation. The typical aneurysm location involves the thoracic aorta (60%). Thoracoabdominal aortic dissections are quite infrequent (10%). A type A aortic dissection can have fatal complications, such as aortic rupture and cardiac tamponade, and a prompt diagnosis is crucial. The present case involves a 46-year-old patient with Marfan’s syndrome who was admitted to the emergency department for dyspnea. The patient presented congestive signs and manifestations suggesting acute heart failure. An initial transthoracic echocardiogram (TTE) showed ventricular hypertrophy and diastolic dysfunction. Additionally, TTE showed plurivalvular regurgitation, pulmonary hypertension (42 mmHg), aortic dilatation, and a dissection flap. Coronary computed tomography angiography (CCTA) was performed, confirming the suspicion of ascending aortic dissection. The patient underwent a three-stage intervention for the repair of all the defects, with adequate recovery. This was a rare presentation of aortic dissection in MFS, which was a diagnostic challenge for the heart team.

关键词： Marfan-Syndrome Aortic-Dissection Heart-Failure

Origin of nucleation and growth of extension twins in grains unsuitably oriented for twinning during deformation of Mg-1%Al

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Journal of Magnesium and Alloys 2024年第3期12卷 1186-1203页

作者： Biaobiao Yang javier LLorca IMDEA Materials Institute C/Eric Kandel 2GetafeMadrid 28906Spain Department of Materials Science Polytechnic University of Madrid/Universidad Politécnica de MadridE.T.S.de Ingenieros de CaminosMadrid 28040Spain

A large number of anomalous extension twins,with low or even negative twinning Schmid factors,were found to nucleate and grow in a strongly textured Mg-1Al alloy during tensile deformation along the extruded *** deformation mechanisms responsible for this behaviour were investigated through in-situ electron back-scattered diffraction,grain reference orientation deviation,and slip trace-modified lattice *** was found that anomalous extension twins nucleated mainly at the onset of plastic deformation at or near grain boundary triple *** were associated with the severe strain incompatibility between neighbour grains as a result from the differentbasal slip-induced lattice ***,the anomalous twins were able to grow with the applied strain due to the continuous activation ofbasal slip in different neighbour grains,which enhanced the strain *** results reveal the complexity of the deformation mechanisms in Mg alloys at the local level when deformed along hard orientations.

关键词： Magnesium Extension twinning In-situ electron back-scattered diffraction basal slip Deformation mechanisms.

Contributions to the knowledge of Antarctodon sobrali(Mammalia:Astrapotheria)from the Eocene of Antarctica

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Advances in Polar Science 2024年第1期35卷 48-62页

作者： javier N.GELFO Consejo Nacional de Investigaciones Científicasy Técnicas(CONICET) Buenos Aires C1425FQBArgentina División Paleontología Vertebrados Museo de La PlataFacultad de Ciencias Naturales y Museo de La PlataUniversidad Nacional de La PlataLa Plata B1900FWAArgentina

The Astrapotheria constitutes one of the five orders of extinct South American native ungulates,with a fossil record that also extends to the Eocene of the Antarctic *** contrast to the abundant specimens known for litoptern Sparnotheriodontidae and metatherians,astrapotheres are represented by scant remains assigned to the endemic Antarctodon sobrali and indeterminate astrapotheres,restricted to levels 35C_(u0)and 35n of the Cucullaea I Allomember of the La Meseta *** discovery of alower molar assignable to this species in the Eocene levels of Seymour(Marambio)Island,enables a revision of the diagnosis and the homologies of the dental characters used to describe this taxon.A reanalysis of its phylogenetic relationships reveals the nearly simultaneous presence of basal astrapotheres in the early Eocene of Itaboraí(Brazil),Patagonia,and West *** taxa are characterized by lacking dental specializations usually associated with more abrasive diets like terminal forms of Uruguaytheriinae and *** appears to have thrived on the Antarctic continent during the Early Eocene Climatic Optimum within the paleoclimatic context of a hot-house *** present conditions in Antarctica where no terrestrial mammals inhabit,the early Eocene climate was characterized by warmer temperatures and a biologically diverse environment rich in primary producers,dominated by Nothofagus forests,encompassing both deciduous and evergreen forests,which supported a diverse assemblage of continental vertebrates.

关键词： Astrapotheria Antarctodon Eocene Seymour Island La Meseta Formation

Arabidopsis photoperiodic regulator CONSTANS feeds back to control the circadian clock

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Molecular Plant 2024年第9期17卷 1338-1340页

作者： Abril San Martin Marcelo javier Yanovsky Instituto de Investigaciones Bioquimicas de Buenos Aires(Fundacion Instituto Leloir-CONICET) Av.Patricias Argentinas 435Buenos AiresC1405BWE

Human beings live in a world defined by daily cycles of light and darkness caused by the Earth's rotation around its ***,like most living organisms,have evolved internal circadian clocks that time biological processes in anticipation of these daily environmental changes(Young and Kay,2001).The plant clock relies on core genes encoding transcription factors(TFs),which regulate each other's expression through intricate networks of interlocking transcriptional-translational feedback loops(Nohales and Kay,2016).These loops ultimately control the expression of thousands of genes,allowing plants to adapt to daily fluctuations in light,temperature,and humidity(Covington et al.,2008).In addition to daily rhythms,the Earth experiences yearly seasonal cycles marked by longer,warmer days in spring and summer,followed by shorter,cooler days in autumn and *** changes in day length and temperature intensify with distance from the ***,the ability of plants to adjust their growth and development in anticipation of seasonal changes determines their latitudinal distribution(McMillan,1960).

关键词： circadian seasonal Arabidopsis

From the mathematical model to the patient: The scientific and human aspects of artificial intelligence in gastrointestinal surgery

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World Journal of Gastrointestinal Surgery 2024年第6期16卷 1517-1520页

作者： javier Arredondo Montero Department of Pediatric Surgery Complejo Asistencial Universitario de LeónCastilla y LeónLeón 24008Spain

Recent medical literature shows that the application of artificial intelligence(AI)models in gastrointestinal pathology is an exponentially growing field,with pro-mising models that show very high *** inflammatory bowel disease(IBD),recent reviews demonstrate promising diagnostic and prognostic AI ***,studies are generally at high risk of bias(especially in AI models that are image-based).The creation of specific AI models that improve diagnostic performance and allow the establishment of a general prognostic fo-recast in IBD is of great interest,as it may allow the stratification of patients into subgroups and,in turn,allow the creation of different diagnostic and therapeutic protocols for these *** surgical models,predictive models of post-operative complications have shown great potential in large-scale *** this work,the authors present the development of a predictive algorithm for early post-surgical complications in Crohn's disease based on a Random Forest model with exceptional predictive ability for complications within the *** pre-sent work,based on logical and reasoned,clinical,and applicable aspects,lays a solid foundation for future prospective work to further develop post-surgical prognostic tools for *** next step is to develop in a prospective and mul-ticenter way,a collaborative path to optimize this line of research and make it applicable to our patients.

关键词： Survivor bias Data analysis Machine learning Ethics Critical thinking Postsurgical Complications Inflammatory bowel disease Gastrointestinal surgery