53 research outputs found

    XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations

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    Derivation and external validation of the SIMPLICITY score as a simple immune-based risk score to predict infection in kidney transplant recipients

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    Existing approaches for infection risk stratification in kidney transplant recipients are suboptimal. Here, we aimed to develop and validate a weighted score integrating non-pathogen-specific immune parameters and clinical variables to predict the occurrence of post-transplant infectious complications. To this end, we retrospectively analyzed a single-center derivation cohort of 410 patients undergoing kidney transplantation in 2008-2013 in Madrid. Peripheral blood lymphocyte subpopulations, serum immunoglobulin and complement levels were measured at one-month post-transplant. The primary and secondary outcomes were overall and bacterial infection through month six. A point score was derived from a logistic regression model and prospectively applied on a validation cohort of 522 patients undergoing kidney transplantation at 16 centers throughout Spain in 2014-2015. The SIMPLICITY score consisted of the following variables measured at month one after transplantation: C3 level, CD4+ T-cell count, CD8+ T-cell count, IgG level, glomerular filtration rate, recipient age, and infection within the first month. The discrimination capacity in the derivation and validation cohorts was good for overall (areas under the receiver operating curve of 0.774 and 0.730) and bacterial infection (0.767 and 0.734, respectively). The cumulative incidence of overall infection significantly increased across risk categories in the derivation (low-risk 13.7%; intermediate-risk, 35.9%; high-risk 77.6%) and validation datasets (10.2%, 28.9% and 50.4%, respectively). Thus, the SIMPLICITY score, based on easily available immune parameters, allows for stratification of kidney transplant recipients at month one according to their expected risk of subsequent infection

    Triggering Mechanisms of Tsunamis in the Gulf of Cadiz and the Alboran Sea: An Overview

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    The Gulf of Cadiz and the Alboran Sea are characterized by tectonic activity due to oblique convergence at the boundary between the Eurasian and Nubian plates. This activity has favoured a variety of tsunamigenic sources: basically, seismogenic faults and submarine landslides. The main tsunamigenic faults in the Gulf of Cadiz would comprise the thrust systems of Gorringe Ridge, Marquês de Pombal, São Vicente Canyon, and Horseshoe faults with a high susceptibility; meanwhile in the Alboran Sea would be the thrust system of the northern Alboran Ridge with high susceptibility, and the thrust systems of north Xauen and Adra margin, the transpressive segment of Al Idrissi fault, and the Yusuf-Habibas and Averroes faults, with moderate to high susceptibility. The areas with the greatest potential to generate tsunamigenic submarine landslides are in the Gulf of Cadiz, the São Vicente Canyon, Hirondelle Seamount, and Gorringe Ridge; and in the Alboran Sea are the southern and northern flanks of Alboran Ridge. Both sources are likely to generate destructive tsunamis in the Gulf of Cadiz, given its history of bigger earthquakes (>7 Mw) and larger landslides. To fully assess tsunamigenic sources, further work needs to be performed. In the case of seismogenic faults, research focuses on geometry, offsets, timing, paleoearthquakes, and recurrence, and in landslides on early post-failure evolution, age, events, and recurrence. In situ measurements, paleotsunami records, and long-term monitoring, in addition to major modelling developments, will be also necessary.Versión del edito

    Sex- and age-related differences in the management and outcomes of chronic heart failure: an analysis of patients from the ESC HFA EORP Heart Failure Long-Term Registry

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    Aims: This study aimed to assess age- and sex-related differences in management and 1-year risk for all-cause mortality and hospitalization in chronic heart failure (HF) patients. Methods and results: Of 16 354 patients included in the European Society of Cardiology Heart Failure Long-Term Registry, 9428 chronic HF patients were analysed [median age: 66 years; 28.5% women; mean left ventricular ejection fraction (LVEF) 37%]. Rates of use of guideline-directed medical therapy (GDMT) were high (angiotensin-converting enzyme inhibitors/angiotensin receptor blockers, beta-blockers and mineralocorticoid receptor antagonists: 85.7%, 88.7% and 58.8%, respectively). Crude GDMT utilization rates were lower in women than in men (all differences: P\ua0 64 0.001), and GDMT use became lower with ageing in both sexes, at baseline and at 1-year follow-up. Sex was not an independent predictor of GDMT prescription; however, age >75 years was a significant predictor of GDMT underutilization. Rates of all-cause mortality were lower in women than in men (7.1% vs. 8.7%; P\ua0=\ua00.015), as were rates of all-cause hospitalization (21.9% vs. 27.3%; P\ua075 years. Conclusions: There was a decline in GDMT use with advanced age in both sexes. Sex was not an independent predictor of GDMT or adverse outcomes. However, age >75 years independently predicted lower GDMT use and higher all-cause mortality in patients with LVEF 6445%

    7th Drug hypersensitivity meeting: part two

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    XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations

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    Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are recurrent on several populations. It has been shown that they each tend occur on specific chromosome 7 haplotypes, supporting the notion of a single origin for them. Less than 50% of mutations in Chilean patients have been identified to date. To indirectly assess the possible presence of a predominant founder mutation in the remaining unknown alíeles, we evaluated 2 polymorphic markers, XV-2c and KM.19, tightly linked to the CFTR locus. The study was done in Chilean CF patients with unknown or delt F508 ( F508) CFTR mutations and their haplotypes were compared to affected family-based controls. F508 showed marked linkage disequilibrium with XV-2c/KM.19 haplotype B, with 90% of alíeles on that haplotype. There was no difference in haplotype distribution between unknown mutations and normal controls. These results support a European origin for F508 alíeles in Chilean patients, and make unlikely the presence of a predominant founder mutation in the so-far unknown alíele

    VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

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    Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms in the VEGFA gene, coding for the vascular endothelial growth factor A, have been associated with non-syndromic congenital heart disease, as well as with the presence of cardiovascular anomalies in patients with microdeletion 22q11. We evaluated the association of VEGFA polymorphisms c.-2578C>A (rs699947), c.-1154G>A (rs1570360) and c.-634C>G (rs2010963) with congenital heart disease in Chilean patients with microdeletion 22q11. The study was performed using case-control and family-based association designs. We evaluated 122 patients with microdeletion 22q11 and known anatomy of the heart and great vessels, and their parents. Half the patients had congenital heart disease. We obtained no evidence of association by either method of analysis. Our results provide further evidence of the incomplete penetrance of the cardiovascular phenotype of microdeletion 22ql 1, but do not support association between VEGFA promoter polymorphisms and the presence of congenital heart disease in Chilean patients with this syndrome

    Tonalá Tierra Viva

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    Los conceptos de identidad y cultura son inseparables pues el primero se construye con los materiales que se obtienen de la cultura y las tradiciones. Pero, ¿qué pasa cuando la cotidianeidad nos impide notar la pérdida de nuestras raíces culturales? Es entonces cuando debemos entrar en acción y rescatar lo que nos hace pertenecer a nuestro pueblo. El siguiente reporte muestra un ejemplo de pérdida de identidad y de riesgo de extinción de uno de los patrimonios inmateriales de nuestro país: la artesanía en cerámica. De igual forma, presenta soluciones concretas que permiten generar un vínculo sensorial entre las nuevas generaciones y la herencia milenaria para que siga siendo transmitida con el fin de mantener en alto y con orgullo lo que nos ha forjado como cultura mexicana
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