Más allá del ecocardiograma en el diagnóstico de la insuficiencia cardiaca

La amiloidosis es una enfermedad sistémica causada por la acumulación extracelular en diferentes tejidos de una proteína mal plegada. Entre los tipos más frecuentes encontramos la transtiretina (TTR) que se subdivide en dos entidades, la TTR mutada que es hereditaria y la TTR wild-type. Cursa con una clínica heterogénea entre la que destacala insuficiencia cardiaca restrictivaque supone la principal causa de mortalidad. La amiloidosis cardiaca por transtiretina es una entidad infradiagnosticada en la actualidad y requiere una alta sospecha clínica. Presentamos un caso de un paciente de 84 años que ingresa en Medicina Interna por un cuadro de insuficiencia cardiaca descompensada. El ecocardiograma y la RMcardiacamuestran signos de miocardiopatía restrictiva secundaria a amiloidosis que se confirma en el estudio histológico de grasa subcutánea y se establece finalmente el tipo de amiloide mediante la gammagrafía con tecnecio-difosfato. Estaentidad precisa un manejo específico y presenta un pronóstico que difiere de otros tiposde insuficiencia cardiaca.Amyloidosis is a systemic disease caused by the extracellularaccumulation of a misfolded protein in different tissues. Among the most frequent typesof amyloid,we find the transthyretin (ATTR) which is subdivided into two subtypes, the mutated ATTR that is hereditary and the wild-type ATTR. It is characterized by heterogeneous manifestations althoughthe cardiac involvementstands out as the main cause of mortality. Transthyretin cardiac amyloidosis isunderdiagnosed and requires a high clinical suspicion. We present a case of an 84-year-old patient admitted to Internal Medicine becauseof acuteheart failure. The echocardiogram and cardiac MRI show signs of restrictive cardiomyopathy secondary to amyloidosis that is confirmed with the histological study of subcutaneous fat and the type of amyloid is finally established by technetium-diphosphate scintigraphy. This entity requires specific management and has a prognosis that differs from other types of heart failure

Physicochemical Properties of Lipoproteins Assessed by Nuclear Magnetic Resonance as a Predictor of Premature Cardiovascular Disease. PRESARV-SEA Study

Cardiovascular diseases; Lipoproteins; Magnetic resonance spectroscopyEnfermedades cardiovasculares; Lipoproteínas; Espectroscopia de resonancia magnéticaMalalties cardiovasculars; Lipoproteïnes; Espectroscòpia de ressonància magnèticaSome lipoprotein disorders related to the residual risk of premature cardiovascular disease (PCVD) are not detected by the conventional lipid profile. In this case-control study, the predictive power of PCVD of serum sdLDL-C, measured using a lipoprotein precipitation method, and of the physicochemical properties of serum lipoproteins, analyzed by nuclear magnetic resonance (NMR) techniques, were evaluated. We studied a group of patients with a first PCVD event (n = 125) and a group of control subjects (n = 190). Conventional lipid profile, the size and number of Very Low Density Lipoproteins (VLDL), Low Density Lipoproteins (LDL), High Density Lipoproteins (HDL) particles, and the number of particles of their subclasses (large, medium, and small) were measured. Compared to controls, PCVD patients had lower concentrations of all LDL particles, and smaller and larger diameter of LDL and HDL particles, respectively. PCVD patients also showed higher concentrations of small dense LDL-cholesterol (sdLDL), and triglycerides (Tg) in LDL and HDL particles (HDL-Tg), and higher concentrations of large VLDL particles. Multivariate logistic regression showed that sdLDL-C, HDL-Tg, and large concentrations of LDL particles were the most powerful predictors of PCVD. A strong relationship was observed between increased HDL-Tg concentrations and PCVD. This study demonstrates that beyond the conventional lipid profile, PCVD patients have other atherogenic lipoprotein alterations that are detected by magnetic resonance imaging (MRI) analysis.This work was supported in part by the Spanish Ministry of Health (Carlos III Health Institute) through the Fondo de Investigación para la Salud (FIS), which is co-funded by the European Regional Development Fund, funded by the following grant codes: PI16/01094 and PI19/01032

El Estado de la Ciencia: Principales Indicadores de Ciencia y Tecnología Iberoamericanos/Interamericanos

El presente informe ha sido elaborado por el equipo técnico responsable de las actividades de la Red de Indicadores de Ciencia y Tecnología -Iberoamericana e Interamericana- (RICYT), con el apoyo de colaboradores especializados en las diferentes temáticas que se presentan. El volumen incluye resultados de las actividades del Observatorio Iberoamericano de la Ciencia, la Tecnología y la Sociedad de la Organización de Estados Iberoamericanos (OEI). La edición de este libro cuenta con el apoyo del Centro de Estudios sobre Ciencia, Desarrollo y Educación Superior (REDES) e incorpora resultados de actividades desarrolladas en el marco de la Cátedra UNESCO de Indicadores de Ciencia y Tecnología.Fil: Albornoz, Mario. Red de Indicadores de Ciencia y Tecnología Iberoamericana e Interamericana. Organización de Estados Iberoamericanos. Observatorio Iberoamericano de la Ciencia, la Tecnología y la Sociedad; Argentina.Fil: Barrere, Rodolfo. Red de Indicadores de Ciencia y Tecnología Iberoamericana e Interamericana. Organización de Estados Iberoamericanos. Observatorio Iberoamericano de la Ciencia, la Tecnología y la Sociedad; Argentina.Fil: Babtista, Belén. Red de Indicadores de Ciencia y Tecnología Iberoamericana e Interamericana. Organización de Estados Iberoamericanos. Observatorio Iberoamericano de la Ciencia, la Tecnología y la Sociedad; Uruguay.Fil: Crespo, Manuel. Red de Indicadores de Ciencia y Tecnología Iberoamericana e Interamericana. Organización de Estados Iberoamericanos. Observatorio Iberoamericano de la Ciencia, la Tecnología y la Sociedad; Argentina.Fil: Estébanez, María Elina. Red de Indicadores de Ciencia y Tecnología Iberoamericana e Interamericana. Organización de Estados Iberoamericanos. Observatorio Iberoamericano de la Ciencia, la Tecnología y la Sociedad; Argentina.Fil: García Rodríguez, Miriam. Red de Indicadores de Ciencia y Tecnología Iberoamericana e Interamericana. Organización de Estados Iberoamericanos. Observatorio Iberoamericano de la Ciencia, la Tecnología y la Sociedad; Argentina.Fil: Lautaro, Matas. Red de Indicadores de Ciencia y Tecnología Iberoamericana e Interamericana. Organización de Estados Iberoamericanos. Observatorio Iberoamericano de la Ciencia, la Tecnología y la Sociedad; Argentina.Fil: Polino, Carmelo. Red de Indicadores de Ciencia y Tecnología Iberoamericana e Interamericana. Organización de Estados Iberoamericanos. Observatorio Iberoamericano de la Ciencia, la Tecnología y la Sociedad; Argentina.Fil: Sokil, Juan Pablo. Red de Indicadores de Ciencia y Tecnología Iberoamericana e Interamericana. Organización de Estados Iberoamericanos. Observatorio Iberoamericano de la Ciencia, la Tecnología y la Sociedad; Argentina

Randomised multicentre clinical trial to evaluate voriconazole pre-emptive genotyping strategy in patients with risk of aspergillosis: vorigenipharm study protocol.

Introduction Invasive aspergillosis is the most important cause of morbidity and mortality in patients with haematological diseases. At present, voriconazole is the first-line treatment for invasive fungal disease. The pharmacokinetic interindividual variability of voriconazole depends on genetic factors. CYP450 is involved in 70%–75% of total metabolism of voriconazole, mainly CYP3A4 and CYP2C19, with the remaining 25%–30% of metabolism conducted by monooxygenase flavins. CYP2C19 single nucleotide polymorphisms could explain 50%–55% of variability in voriconazole metabolism. Materials and methods The main objective is to compare efficiency of pre-emptive voriconazole genotyping with routine practice. The primary outcome is serum voriconazole on the fifth day within the therapeutic range. The secondary outcome is the combined variables of therapeutic failure and adverse events within 90 days of first administration, associated with voriconazole. A total of 146 patients at risk of invasive aspergillosis who will potentially receive voriconazole will be recruited, and CYP2C19 will be genotyped. If the patient ultimately receives voriconazole, they will be randomised (1:1 experimental/control). In the experimental arm, patients will receive a dose according to a pharmacogenetic algorithm, including CYP2C19 genotype and clinical and demographic information. In the control arm, patients will receive a dose according to clinical practice guidelines. In addition, a Spanish National Healthcare System (NHS) point-of-view cost-effectiveness evaluation will be performed. Direct cost calculations for each arm will be performed. Conclusion This trial will provide information about the viability and cost-effectiveness of the mplementation of a pre-emptive voriconazole genotyping strategy in the Spanish NHS. Ethics and dissemination A Spanish version of this protocol has been evaluated and approved by the La Paz University Hospital Ethics Committee and the Spanish Agency of Medicines and Medical Devices. Trial results will be submitted for publication in an open peer-reviewed medical speciality-specific publication. Trial registration number Eudra-CT: 2019-000376-41 and NCT04238884; Pre-results.post-print441 K

Physicochemical Properties of Lipoproteins Assessed by Nuclear Magnetic Resonance as a Predictor of Premature Cardiovascular Disease. PRESARV-SEA Study

Some lipoprotein disorders related to the residual risk of premature cardiovascular disease (PCVD) are not detected by the conventional lipid profile. In this case-control study, the predictive power of PCVD of serum sdLDL-C, measured using a lipoprotein precipitation method, and of the physicochemical properties of serum lipoproteins, analyzed by nuclear magnetic resonance (NMR) techniques, were evaluated. We studied a group of patients with a first PCVD event (n = 125) and a group of control subjects (n = 190). Conventional lipid profile, the size and number of Very Low Density Lipoproteins (VLDL), Low Density Lipoproteins (LDL), High Density Lipoproteins (HDL) particles, and the number of particles of their subclasses (large, medium, and small) were measured. Compared to controls, PCVD patients had lower concentrations of all LDL particles, and smaller and larger diameter of LDL and HDL particles, respectively. PCVD patients also showed higher concentrations of small dense LDL-cholesterol (sdLDL), and triglycerides (Tg) in LDL and HDL particles (HDL-Tg), and higher concentrations of large VLDL particles. Multivariate logistic regression showed that sdLDL-C, HDL-Tg, and large concentrations of LDL particles were the most powerful predictors of PCVD. A strong relationship was observed between increased HDL-Tg concentrations and PCVD. This study demonstrates that beyond the conventional lipid profile, PCVD patients have other atherogenic lipoprotein alterations that are detected by magnetic resonance imaging (MRI) analysis

All-cause mortality in the cohorts of the Spanish AIDS Research Network (RIS) compared with the general population: 1997Ł2010

Abstract Background: Combination antiretroviral therapy (cART) has produced significant changes in mortality of HIVinfected persons. Our objective was to estimate mortality rates, standardized mortality ratios and excess mortality rates of cohorts of the AIDS Research Network (RIS) (CoRIS-MD and CoRIS) compared to the general population. Methods: We analysed data of CoRIS-MD and CoRIS cohorts from 1997 to 2010. We calculated: (i) all-cause mortality rates, (ii) standardized mortality ratio (SMR) and (iii) excess mortality rates for both cohort for 100 personyears (py) of follow-up, comparing all-cause mortality with that of the general population of similar age and gender. Results: Between 1997 and 2010, 8,214 HIV positive subjects were included, 2,453 (29.9%) in CoRIS-MD and 5,761 (70.1%) in CoRIS and 294 deaths were registered. All-cause mortality rate was 1.02 (95% CI 0.91-1.15) per 100 py, SMR was 6.8 (95% CI 5.9-7.9) and excess mortality rate was 0.8 (95% CI 0.7-0.9) per 100 py. Mortality was higher in patients with AIDS, hepatitis C virus (HCV) co-infection, and those from CoRIS-MD cohort (1997. Conclusion: Mortality among HIV-positive persons remains higher than that of the general population of similar age and sex, with significant differences depending on the history of AIDS or HCV coinfection

Valor discriminativo de los parámetros de respuesta al ejercicio de la prueba de esfuerzo en la miopatía mitocondrial y el síndrome de fatiga crónica

Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Medicina. Departamento de Medicina. Fecha de lectura: 27 de Abril de 200