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The Iberian Roma Population Variant Server(IRPVS)

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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Multi-Image Studies of Atypical Location of Ventricular Aneurysms and Survival: Clinical Cases Series

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World Journal of Cardiovascular Diseases 2019年第8期9卷 524-537页

作者： Gyselle Camacho-Camacho Isabel carvajal-Juárez Hector Guatibonza-Zambrano alejandra de la Torre Aloha Meave-Gonzalez Candace Keirns Erick Alexanderson-Rosas Alondra Flores-García Nilda Espinola-Zavaleta Department of Nuclear Cardiology National Institute of Cardiology Ignacio Chavez Mexico City Mexico Department of Resonance Imaging National Institute of Cardiology Ignacio Chavez Mexico City Mexico International Medical Interpreters Association Boston ME USA Department of Physiology School of Medicine UNAM Mexico City Mexico Department of Echocardiography ABC Medical Center I.A.P. Mexico City Mexico

Background: A left ventricular aneurysm is a mechanical complication of a myocardial infarction that frequently develops on the anterior and apical wall. Survival of 3 to 5 years is 27% and 12%, respectively. Our objective is to report 3 cases of ventricular aneurysms in atypical locations and analyze the survival of these patients. Material and Methods: Three patients with suspicion of ventricular aneurysm after acute myocardial infarction who sought?attention at our institution were included. All underwent transthoracic echocardiograms (TTE), cardiac magnetic resonance (CMR), nuclear cardiology (NC),?coronary angiotomography and cardiac catheterization to assess the location and characteristics of the aneurysms, left ventricular systolic function and the?anatomical and functional condition of the coronary arteries. Results: The mean age of studied patients was 58.33 ± 10.37 years. The locations of the ventricular aneurysms were lateral, inferior and septal. The patients received optimal medical treatment to control heart failure and were discharged in stable condition without early mortality. The mean follow-up was 6.33 years (intervals: 2 - 9) and during this period the patients were in NYHA functional class I/II. Conclusion: Left ventricular aneurysm is a late mechanical complication of an infarction that can develop in an atypical location. Diagnosis is achieved using non-invasive techniques such as TTE, CMR, NC, and coronary angiotomography. No mortality occurred among the patients during medium and long-term follow-up.

关键词： Aneurysm Myocardial Infarction Echocardiography Cardiac Magnetic Resonance Coronary Angiogram Survival

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Effects of vacuum-assisted closure and Drotrecogin alpha on inflammatory markers in severe acute pancreatitis

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Advances in Bioscience and Biotechnology 2013年第8期4卷 43-53页

作者： Oscar Arias-carvajal José Manuel Hermosillo-Sandoval Carlos Alberto Gutiérrez-Martínez Fermín Paul Pacheco-Moisés Genaro Gabriel Ortiz Adolfo Daniel Rodríguez-Carrizalez Luis Miguel Román-Pintos alejandra Guillermina Miranda-Díaz Department of Chemistry University of Guadalajara Guadalajara México Department of General Surgery Specialties Hospital National Occidental Medical Centre Social Security Institute of México Guadalajara México Department of Physiology University Health Sciences Centre University of Guadalajara Guadalajara México Intensive Care Unit Specialties Hospital National Occidental Medical Centre Social Security Institute of México Guadalajara México Occidental Biomedical Research Centre Social Security Institute of México Guadalajara México

In severe acute pancreatitis (SAP) inflammatory processes foster necrosis, cellular lysis and liberation of vasoactive substances associated with multiple organ failure. The effects of vacuum-assisted closure and Drotrecogin alpha on inflammatory cytokines were evaluated in SAP patients with infected necrosis. Methods: Forty-six patients were included in three groups: Group 1, necrosectomy and abdominal cavity washing;Group 2, necrosectomy plus vacuum-assisted closure (VAC), and Group 3, necrossectomy plus VAC plus Drotrecogin alpha. Immunoreactive IL-32, TNF-α, IL-6, TGF-β and IL-2 cytokines were quantified with ELISA method. Results: IL-32 was significantly increased in all patients, predominantly the non-survivor of Group 3 (p 0.0001). Group 2 maintained increased IL-32 levels throughout. Peak TNF-α was observed in non-survivors of Groups 1 and 2, with a frank tendency to decrease in Group 3. The IL-6 was increased, sustained throughout the study, peaking at the onset in non-survivors. At the end IL-6 tended to diminish, predominantly in survivors. TNF-α and IL-6 were significantly increased on hospitalization, with a maximum peak in non-survivors of all groups. Initial values of TGF-β were significantly increased in survivors of the three groups, and were significantly diminished in non-survivors;affecting pancreas regeneration and favoring systemic inflammation, with possible multiple-organ repercussions. IL-2 levels were elevated, predominantly in non-survivors of Group 1. There was positive correlation between the increase IL-32 and TNF-α, and negative correlation between the increase in TNF-α and decrease in TGF-β;and, a tendency for negative correlation between the IL-2 increased and TGF-β levels. Conclusion: We found a generalized, sustained inflammatory state that fosters a torpid outcome in SAP patients.

关键词： Severe Acute Pancreatitis Systemic Inflammation Proinflammatory Cytokines

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