Encarnación Rubio

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Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (NIPBL, SMC1A, and SMC3) of the cohesin complex and its regulators have been found in affected patients. Here, we present clinical and molecular characterization of 30 unrelated patients with CdLS. Eleven(More)
The occurrence of free-living amoebae (FLA) was investigated in 83 water samples from reservoirs and water treatment plants, with culture positive in 64 of them (77.1%). Polymerase chain reaction (PCR) of partial 18S rRNA gene and ITS region was performed in order to identify amoeba isolates, and the presence of Legionella pneumophila , Mycobacterium spp.,(More)
BACKGROUND It is today widely accepted that participation in social activities contributes towards successful ageing whilst, at the same time, maintaining independence in the activities of daily living (ADLs) is the sine qua non for achieving that end. This study looks at people aged 65 and over living in an urban area in Spain who retain the ability to(More)
The prevalence of intestinal parasitic diseases and their associated factors has been investigated in HIV populations from the Island of Bioko, Equatorial Guinea. The feces of 310 participants from the island of Bioko (260 HIV-positive and 50 HIV-negative) were analyzed by microscopic observation. Immunochromatography was also used to diagnose Giardia,(More)
The association between free-living amoebae and pathogenic bacteria is an issue that has gained great importance due to the environmental and health consequences that it implies. In this paper, we analyse the techniques to follow an epidemiological study to identify associations between genera, species, genotypes and subgenotypes of amoebae with pathogenic(More)
BACKGROUND Prevalence of intestinal parasitic infections in HIV-positive people and its association with clinical and socioeconomic factors has been investigated on the mainland of Equatorial Guinea, in order to define the precise measures for improvement of their quality of life. METHODS In August 2010, 273 HIV-positive and 60 HIV-negative were(More)
Background There is little evidence regarding the management of refractory giardiasis after treatment with nitroimidazoles. This study estimates the proportion of persistent giardiasis in 3 hospitals in Barcelona, describes associated risk factors and genotype, and evaluates the efficacy rate of quinacrine in those with persistent giardiasis. Methods A(More)
This paper considers four patterns of intertemporal choice. First, the time effect, an inverse relation between time preference (TP) and the time implied in the choice. Secondly, the magnitude effect, an inverse relation between TP and the amount implied in the choice. Thirdly, delay/speed-up asymmetry, that is to say, a change in the preferences in(More)
Purpose To develop a rabbit model of Acanthamoeba keratitis (AK) as the best method to reproduce the natural course of this disease. Methods To induce AK, infected contact lenses (1000 amoebae/mm2, 90% trophozoites) were placed over the previously debrided corneal surface, in combination with a temporary tarsorrhaphy. Environmental and clinical strains of(More)
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