4,544 research outputs found

    The left and right ventricle of a patient with a R723G mutation of the beta-myosin heavy chain and severe hypertrophic cardiomyopathy show no differences in the expression of myosin mRNA

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    Background: In familial hypertrophic cardiomyopathy (FHC), asymmetric left ventricular (LV) hypertrophy has been considered to be the predominant phenotypic expression, whereas right ventricular (RV) involvement is still ambiguous. In most cases, the right ventricle remains unaffected until secondary pulmonary hypertension develops. Several FHC-causing mutations of genes encoding sarcomere-related proteins have been identified which are transmitted in an autosomal-dominant manner. Methods: We report the case of a 61 year old member of a Catalan family with a Arg723Gly missense mutation of the β-myosin heavy chain (β-MHC), that is associated with a malignant phenotype characterized by sudden cardiac death and heart failure. Because of progressive systolic LV dysfunction, the patient received a heart transplant in 2003. Results: Molecular analysis of the myocardial tissue of the explanted heart, taken from the left and right ventricle, showed a similar deviation of the ratio of mutant vs wild type mRNA of the β-MHC of 71.8 ± 5% and 68.5 ± 3%, respectively. This finding was confirmed for LV biopsies of this patient on protein level, showing a similar proportion of mutated β-myosin. But since the patient is heterozygous for the β-MHC mutation and the mutation is located in a coding region, the relative increase of the expression of the mutant allele is unexpected. It has been demonstrated before by our group for several β-MHC mutations that the relative abundance of mutated mRNA/protein correlates with the clinical severity of the disease. But since the right ventricle shows no (or only minor) manifestation in terms of hypertrophy or dysfunction, the level of mRNA and protein expression is not the only factor responsible for the development of the phenotype of FHC. Conclusions: Several mechanisms through which cardiac stresses may incite maladaptive cardiac remodeling primarily of the left ventricle that result in myocardial hypertrophy and heart failure are proposed. One of those triggers could be the enhanced work load of the left ventricle, especially if a LV outflow tract gradient is present, in contrast to the lesser demands to the right ventricle which is adapted to the low pressure system of the pulmonary circulation. Further studies are needed to confirm the results of this case, as well as functional studies involving both ventricles. (Cardiol J 2010; 17, 5: 518-522

    Bibliometric analysis in motorcycle accident research: a global overview

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    770 million motorcycles are estimated on the roads. Motorcyclists represent more than 380,000 annual deaths worldwide. 28% of the global fatalities in the roads in 2016. With the increase of the accident rate, studies have been developed within the scientific literature. Bibliometric analysis is applied in the field of motorcycle safety in order to identify relevant publications on risk factors of road crashes and their implications. The information in this research was extracted from Web of Science and Scopus databases between 1947 and May 31, 2018. The study identified the key bibliometric indicators such as publications, authors, journals, countries, institutions, citation and co-citation analysis, subject categories, and co-occurrence of terms. EndNote, Microsoft Excel, Statgraphics Centurion and VOS-viewer software were used for the analysis. In total, 1813 articles were considered. The publications from 2000 to 2017 exhibits an average growth of 9%. The journal “Accident Analysis and Prevention” was the key issue in the publication and citation. The top institutions were the University of California, Universiti Putra Malaysia, and Monash University. The average citation of the top 10 articles was 134. A network visualization map showed that ‘vehicle’, ‘model’, ‘system’, ‘road’, ‘safety’, and ‘behavior’ were the most commons key terms. Bibliometric analysis demonstrates a high collaboration between authors and institutions. Two growing trends were identified. First, studies on the protection of the motorcyclist and the safe design considering the performance. Second, studies in analysis, characterization, and prevention of accidents. These studies are more related to the generation of strategies for the protection of road safety for motorcyclists

    Increased rate of FEV1 decline in HIV patients despite effective treatment with HAART

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    Introduction: Previous studies have reported that the rate of FEV1 decline over time is increased in HIV patients but the mechanisms underlying this observation are unclear. Since current HIV treatment with Highly Active Antiretroviral Therapy (HAART) results in very good immune-viral control, we hypothesized that HAART should normalize the elevated rate of FEV1 decline previously reported in HIV patients if it was somehow related to the immune alterations caused by HIV, particularly in never smokers or quitters, since smoking is a well established risk factor for accelerated FEV1 decline in the general population. Methods: We explored this hypothesis in a prospectively recruited cohort of 188 HIV (smoker and non-smoker) patients treated with HAART in Palma de Mallorca (Spain) and followed-up for 6 years. The cross-sectional characteristics of this cohort have been published elsewhere. Results: We found that: (1) HAART resulted in good immune-viral control; (2) the rate of FEV1 decline remained abnormally elevated, even in non-smokers and quitters; and, (3) alcohol abuse during follow-up was related to FEV1 decline in these patients. Discussion: Despite adequate immune-viral control by HAART, lung function decline remains increased in most HIV patients, even in non-smokers and quitters. Alcohol abuse is a preventable risk factor to decrease the accelerated FEV1 decline in this population

    Adverse birth outcomes in the vicinity of industrial installations in Spain 2004-2008

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    Industrial activity is one of the main sources of ambient pollution in developed countries. However, research analyzing its effect on birth outcomes is inconclusive. We analyzed the association between proximity of mother's municipality of residence to industries from 24 different activity groups and risk of very (VPTB) and moderate (MPTB) preterm birth, very (VLBW) and moderate (MLBW) low birth weight, and small for gestational age (SGA) in Spain, 2004-2008. An ecological study was defined, and a "near vs. far" analysis (3.5 km threshold) was carried out using Hierarchical Bayesian models implemented via Integrated Nested Laplace Approximation. VPTB risk was higher for mothers living near pharmaceutical companies. Proximity to galvanization and hazardous waste management industries increased the risk of MPTB. Risk of VLBW was higher for mothers residing near pharmaceutical and non-hazardous or animal waste management industries. For MLBW many associations were found, being notable the proximity to mining, biocides and animal waste management plants. The strongest association for SGA was found with proximity to management animal waste plants. These results highlight the importance of further research on the relationship between proximity to industrial sites and the occurrence of adverse birth outcomes especially for the case of pharmaceutical and animal waste management activities.We would like to acknowledge the support of the Fondo de Investigación Sanitaria (PI081330), Spanish Ministry of Science and Innovation (SEJ 2005/07679 and CD11/00018), and the CIBER en Epidemiología y Salud Pública (CIBERESP), Spain.S

    Renormalized stress-energy tensor for spin-1/2 fields in expanding universes

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    We provide an explicit expression for the renormalized expectation value of the stress-energy tensor of a spin-1/2 field in a spatially flat Friedmann-Lemaitre-Robertson-Walker universe. Its computation is based on the extension of the adiabatic regularization method to fermion fields introduced recently in the literature. The tensor is given in terms of UV-finite integrals in momentum space, which involve the mode functions that define the quantum state. As illustrative examples of the method efficiency, we see how to compute the renormalized energy density and pressure in two interesting cosmological scenarios: a de Sitter spacetime and a radiation-dominated universe. In the second case, we explicitly show that the late-time renormalized stress-energy tensor behaves as that of classical cold matter. We also check that, if we obtain the adiabatic expansion of the scalar field mode functions with a similar procedure to the one used for fermions, we recover the well-known WKB-type expansion

    Geographical variations in the risk of adverse birth outcomes in Spain

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    The objective of this study was to describe the spatial risk-patterns of prematurity and low birth weight in Spain. A descriptive spatial analysis of births registered in the Spanish Vital Statistics during 2004–2008 using municipalities as the observation unit was carried out. Besag-York-Mollié autoregressive spatial models were adjusted using the Integrated Nested Laplace approximation to calculate relative risks and posterior probabilities of having very and moderate preterm or low weight newborns. Results were represented in maps to assess geographic risk-patterns. Spatial analysis shows geographical variations in the risk of adverse reproductive outcomes in Spain highlighting three main high-risk zones, namely, municipalities in Asturias, Madrid City and Murcia. The specific risk patterns identified on each zone suggests some differences regarding the potential underlying risk factors and specific areas for future research. A differential exposure during pregnancy to some risks potentially related to industry or agriculture and other contextual factors could underlie an unequal vulnerability to adverse reproductive outcomes in some Spanish regions.Fondo de Investigación Sanitaria (PI081330); Spanish Ministry of Science and Innovation (SEJ 2005/07679); CIBER en Epidemiología y Salud Pública (CIBERESP), Spain.S
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