14 research outputs found

    Familial Dilated Cardiomyopathy and Isolated Left Ventricular Noncompaction Associated With Lamin A/C Gene Mutations

    Get PDF
    [Abstract] LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC, and 32 sporadic DC). From genomic DNA, coding regions of the LMNA gene were amplified by polymerase chain reaction, studied by single-strand conformation polymorphism, and cycle sequenced. Mutations were confirmed by restriction fragment length polymorphism. Two disease-causing mutations were found in families A and B. In family A, a novel R349L mutation was present in the mother and her identical twin daughters. They required cardiac transplantation at 36, 18, and 20 years of age. In family B, the R190W mutation was present in 2 cousins with DC and without conduction system disease (1 had cardiac transplantation at 45 years of age and 1 died suddenly at 46 years of age) and in 2 of their sons. The mothers of the 2 affected patients died due to cardiac causes in their 40s (1 died suddenly). One of the carriers fulfilled diagnostic criteria for isolated left ventricular noncompaction. Our data associated the R349L and R190W mutations in LMNA with severe forms of familial DC. LMNA mutations should be considered in the genetic screening of patients with familial DC without conduction system disease. Isolated left ventricular noncompaction may be part of the phenotypic spectrum of the laminopathies.Xunta de Galicia; PGIDT00PXI13401P

    Innovaciones para la mejora de la escuela inclusiva: Aspectos metodológicos y organizativos

    No full text
    Resumen tomado de la publicaciónEsta comunicación aparece duplicada en el libro "Prácticas innovadoras inclusivas : retos y oportunidades. Oviedo, 2017", tal y como se recoje en la paginación indicada en este registro.La educación inclusiva implica una respuesta educativa adecuada para todo el alumnado buscando la igualdad de oportunidades, la universalización del derecho a la educación y la integración social de los sectores desfavorecidos, por lo que mantiene un compromiso a favor de la igualdad de oportunidades a nivel educativo. La escuela inclusiva, actualmente, constituye un gran reto que ha de afrontar la comunidad educativa y la sociedad en general. En este sentido, se proponen elementos que favorecen este tipo de escuela, divididos en el ámbito metodológico, aprendizaje cooperativo y trabajo por proyectos, y organizativo, comunidad de aprendizaje, grupos interactivos y redes de escuelas. Además, se realiza una reseña de investigaciones acerca de la introducción de dichos elementos en la escuela inclusiva.ES

    Ecocardiografía de perfusión miocárdica en tiempo real para la predicción de la recuperación de la función ventricular después del infarto agudo de miocardio reperfundido

    No full text
    Introducción y objetivos. La ecocardiografía de perfusión en tiempo real (EPTR) es un método reciente. Los objetivos fueron estudiar: a) si la EPTR predice la recuperación después de infarto agudo de miocardio (IAM), y b) si los datos son comparables a los obtenidos con la tomografía computarizada por emisión de fotones simples (SPECT) marcada con 99mTc-sestamibi y la resonancia magnética (RM). Pacientes y método. Hemos incluido a 85 pacientes con IAM sometidos a angioplastia coronaria transluminal percutánea (ACTP). La EPTR se realizó 7 ± 4 días después del IAM. Se utilizó ecocardiografía a la vez que la perfusión y a las 10 ± 4 semanas de ésta. La SPECT y la RM se realizaron después del IAM en 18 y 32 pacientes, respectivamente. Resultados. Al finalizar el seguimiento dispusimos de ecocardiografía de 82 pacientes, a los que dividimos en: grupo con recuperación (GR) (n = 49) y grupo sin recuperación (GNR) (n = 33). El índice de motilidad segmentaria (IMS) regional mejoró desde 1,75 ± 0,49 a 1,32 ± 0,36 (p < 0,001) en el GR, y empeoró desde 1,85 ± 0,39 a 1,95 ± 0,36 en el GNR (p < 0,001). El índice de EPTR era de 0,8 ± 0,3 en el GR y de 0,6 ± 0,4 en el GNR (p < 0,001). La concordancia entre la EPTR y la SPECT en un análisis segmentario era del 78% (p < 0,001; ? = 0,49), y entre la EPTR y el hipercontraste tardío de la RM era del 70% (p < 0,001; ? = 0,35). Los predictores independientes de recuperación fueron el valor de la creatincinasa (odds ratio [OR] = 1,4 por cada 1.000 U; intervalo de confianza [IC] del 95%, 1,0-1,9; p < 0,05) y el índice de EPTR (OR = 8,8; IC del 95%, 1,9-39,3; p < 0,01). Un índice = 0,60 tuvo un valor predictivo positivo del 73% y negativo del 69% (p < 0,001; ABC = 0,70). Conclusión. La EPTR tiene valor moderado para predecir la recuperación funcional después del IAM reperfundido

    Demographic and clinical profile of idiopathic pulmonary fibrosis patients in Spain : The SEPAR National Registry

    Get PDF
    Little is known on the characteristics of patients diagnosed with idiopathic pulmonary fibrosis (IPF) in Spain. We aimed to characterize the demographic and clinical profile of IPF patients included in the IPF National Registry of the Spanish Respiratory Society (SEPAR). This is a prospective, observational, multicentre and nationwide study that involved 608 IPF patients included in the SEPAR IPF Registry up to June 27th, 2017, and who received any treatment for their disease. IPF patients were predominantly males, ex-smokers, and aged in their 70s, similar to other registries. Upon inclusion, mean ± SD predicted forced vital capacity was 77.6% ± 19.4, diffusing capacity for carbon monoxide was 48.5% ± 17.7, and the 6-min walk distance was 423.5 m ± 110.4. The diagnosis was mainly established on results from the high-resolution computed tomography in the proper clinical context (55.0% of patients), while 21.2% of patients required invasive procedures (surgical lung biopsy) for definitive diagnosis. Anti-fibrotic treatment was prescribed in 69.4% of cases, 51.5% pirfenidone and 17.9% nintedanib, overall with a good safety profile. The SEPAR IPF Registry should help to further characterize current characteristics and future trends of IPF patients in Spain and compare/pool them with other registries and cohorts

    Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction

    Get PDF
    Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain prognosis. This study sought to develop and validate a prediction model of major adverse cardiovascular events (MACE) and to identify LVNC cases without events during long-term follow-up. This is a retrospective longitudinal multicenter cohort study of consecutive patients fulfilling LVNC criteria by echocardiography or cardiovascular magnetic resonance. MACE were defined as heart failure (HF), ventricular arrhythmias (VAs), systemic embolisms, or all-cause mortality. A total of 585 patients were included (45 ± 20 years of age, 57% male). LV ejection fraction (LVEF) was 48% ± 17%, and 18% presented late gadolinium enhancement (LGE). After a median follow-up of 5.1 years, MACE occurred in 223 (38%) patients: HF in 110 (19%), VAs in 87 (15%), systemic embolisms in 18 (3%), and 34 (6%) died. LVEF was the main variable independently associated with MACE (P 35% (P < 0.05). A prediction model of MACE was developed using Cox regression, composed by age, sex, electrocardiography, cardiovascular risk factors, LVEF, and family aggregation. C-index was 0.72 (95% confidence interval: 0.67-0.75) in the derivation cohort and 0.72 (95% confidence interval: 0.71-0.73) in an external validation cohort. Patients with no electrocardiogram abnormalities, LVEF ≥50%, no LGE, and negative family screening presented no MACE at follow-up. LVNC is associated with an increased risk of heart failure and ventricular arrhythmias. LVEF is the variable most strongly associated with MACE; however, LGE confers additional risk in patients without severe systolic dysfunction. A risk prediction model is developed and validated to guide management.The project was partially funded by a grant from the Catalan Society of Cardiology (Barcelona, Spain). Hospital Universitario Virgen de la Arrixaca (Murcia, Spain) was supported by a grant from the Foundation Marató TV3 (218/C/2015) (Barcelona, Spain). Hospital Universitario y Politécnico La Fe (Valencia, Spain) was partially supported by Fondo Europeo de Desarrollo Regional (“Unión Europea, Una forma de hacer Europa”) (Madrid, Spain) and the Instituto de Salud Carlos III (La Fe Biobank PT17/0015/ 0043) (Madrid, Spain). Dr Guala was supported by funding from the Spanish Ministry of Science, Innovation and Universities (IJC2018-037349-I) (Madrid, Spain). Dr La Mura was supported by a research grant from the Cardiopath PhD program (Naples, Italy). Prof de la Pompa was supported by grants PID2019-104776RB-I00 and CB16/11/00399 (CIBER CV) from the Spanish Ministry of Science, Innovation and Universities. Dr Bayes-Genis was supported by grants from CIBER Cardiovascular (CB16/11/00403 and 16/11/00420) (Madrid, Spain) and AdvanceCat 2014-2020 (Barcelona, Spain); and has received advisory board and lecture fees from Novartis, Boehringer Ingelheim, Vifor, Roche Diagnostics, and Critical Diagnostics. Dr Pontone has received speaker honorarium and/or institutional research grants from GE Healthcare, Bracco, Boehringer Ingelheim, and HeartFlow. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.S
    corecore