Encarnación Rubio

Mutations and Variants in the Cohesion Factor Genes NIPBL, SMC1A, and SMC3 in a Cohort of 30 Unrelated Patients With Cornelia de Lange Syndrome

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 patients had mutations in NIPBL (37%) and three patients had mutations in SMC1A (10%), giving an overall rate of mutations of 47%. Several patients shared the same mutation in NIPBL (p.R827GfsX2) but had variable phenotypes, indicating the influence of modifiers in CdLS. Patients with NIPBL mutations had a more severe phenotype than those with mutations in SMC1A or those without identified mutations. However, a high incidence of palate defects was noted in patients with SMC1A mutations. In addition, we observed a similar phenotype in both male and female patients with SMC1A mutations. Finally, we report the first patient with an SMC1A mutation and the Sandifer complex.

Identification of Free-Living Amoebae and Amoeba-Associated Bacteria from Reservoirs and Water Treatment Plants by Molecular Techniques

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., Pseudomonas spp., and Microcystis aeruginosa was investigated in 43 isolates of amoebae by multiplex PCR. Of the isolated amoebae, 31 were Acanthamoeba spp., 21 were Hartmannella vermiformis, 13 were Naegleria spp., and one was Vanella spp. T2, T4, and T5 genotypes of Acanthamoeba have been identified, and T4 isolates were grouped into five subgenotypes and graphically represented with a Weblog application. Inside amoebae, L. pneumophila was detected in 13.9% (6/43) of the isolates, and Pseudomonas spp. and Mycobacterium spp. were detected in 32.6% (14/43) and 41.9% (18/43), respectively. No statistical correlation was demonstrated between FLA isolation and seasonality, but the presence of intracellular bacteria was associated with warm water temperatures, and also the intracellular presence of Mycobacterium spp. and Pseudomonas spp. were associated. These results highlight the importance of amoebae in natural waters as reservoirs of potential pathogens and its possible role in the spread of bacterial genera with interest in public and environmental health.

Social participation and independence in activities of daily living: a cross sectional study

BackgroundIt 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 attend Social Centres providing recreational facilities. The aim of this paper is to quantify independence and identify the risk factors involved in its deterioration.MethodsThe sample size was calculated using the equation for proportions in finite populations based on a random proportional sample type, absolute error (e) = 0.05, α = 0.05, β = 0.1, p = q = 0.5. Two-stage sampling was used. In the first place, the population was stratified by residence and a Social Centre was randomly chosen for each district. In the second stage, individuals were selected in a simple random sample without replacement in proportion to the number of members at each social centre.A multivariate logistical regression analysis takes functional ADL capacity as the dependent variable. The choice of predictive variables was made using a bivariate correlation matrix. Among the estimators obtained, Nagelkerkes R2 coefficient, and the Odds ratio (CI 95%) were considered. Sensitivity and 1-specificity were adopted to present the results in graphic form.ResultsOut of this sample, 63.7% were fully capable of carrying out ADLs, while the main factors contributing to deterioration, identified on the basis of a logistic regression model, are in order of importance, poor physical health, poor mental health, age (above 75 years) and gender (female). The model employed has a predictive value of 88% and 92% (depending on the age range considered) with regard to the independence in ADLs.ConclusionA review of the few Spanish works using similar methodology shows that the percentage of non-institutionalised persons who are independent enough to carry out ADLs is considerably lower than that found in this study of socially-active persons. Participation in recreational activities as part of a community may delay the onset of the dependence associated with ageing.

Prevalence of intestinal parasites in HIV-positive patients on the island of Bioko, Equatorial Guinea: its relation to sanitary conditions and socioeconomic factors.

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, Entamoeba histolytica and Cryptosporidium spp. In addition, patients were asked for sociodemographic, economic and academic status, and CD4+ T cell counts were recorded. For HIV-positive patients, the prevalence of infection by intestinal parasites was 81.5% (212/260), 83.8% (218/260) by pathogenic helminths and 55.4% (168/260) by pathogenic protozoa (E. histolytica/dispar and Giardia duodenalis). Gender association was found between the infection by Ascaris and Schistosoma, a higher proportion being found in women; and between Entamoeba and the place of residence, a higher proportion being observed in the urban belt. Strongyloides stercoralis and Chilomastix mesnili appeared only in the people of this group, all the cases of Chilomastix being in females. For HIV-negative participants, the prevalence of infection by intestinal parasites was 74.0% (37/50), 90.0% (45/50) by pathogenic helminths and 66.0% (43/50) by pathogenic protozoa. Gender, educational level and low hygiene were associated with intestinal parasitic infection. When comparing the two groups (HIV-positive and HIV-negative), statistical association between HIV co-infection and infection by Giardia and Entamoeba was found. Diarrhea was also associated with intestinal parasitic infection in the HIV-positive group. Not only do our findings reflect high rates of intestinal parasitic infections in HIV-positive people, but also in the HIV-negative group, suggesting a closer relationship between sanitary status and living conditions than with immune status, and thus they highlight the need to carry out health education policies in the population. In addition, Schistosoma intercalatum/guineensis has been detected for the first time as an autochthonous parasite on the island.

The economic evaluation of health programmes: why discount health consequences more than monetary consequences?

There is currently general agreement amongst economists that the discount rate to compute the present value of benefits and costs in the economic evaluation of public policies is defined according to the social time preference approach. However, whether this rate has to be used for the discount of non-monetary health consequences is a question for which there is no satisfactory reply. In this paper, it is argued that such a reply rests on the estimation of the relationship between the individual time preference for health and money in the contexts of private and social choice. In support of this argument an empirical analysis has been carried out in which the individuals making-up a representative sample of the population of Zaragoza (Spain) have been faced with a series of hypothetical inter-temporal choices. Their replies have implicitly revealed their temporal preference rates and have led to the conclusion that health consequences are discounted at a higher rate than monetary consequences. This would appear to be contrary to the standard practice applied in the economic valuation of health programmes.

The discounted utility model and social preferences:: Some alternative formulations to conventional discounting

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 function of the framing of the choices. Fourthly, the domain effect, where TPs differ as between health and money. The novel aspect of the paper is the finding that such patterns are present when individuals face intertemporal social choices with respect to money and health which, therefore, could be interpreted as fundamental properties of intertemporal choice. Furthermore, given the time effect, consideration is given to the quantitative form of the discount function. It is found that hyperbolic discounting models provide a better description of the stated preferences than the conventional discounted utility model or the quasi-hyperbolic discounting model. The results provide evidence in support of the hyperbolic social discounting models.

Identifying endosymbiont bacteria associated with free‐living amoebae

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 bacteria, analysing their evolution and considering their usefulness. In this sense, we highlight the combination of microscopic and molecular techniques as the most appropriate way to obtain fully reliable results as well as the need to achieve the standardization of these techniques to allow the comparison of both environmental and clinical results.

Intestinal parasites in HIV-seropositive patients in the Continental Region of Equatorial Guinea: its relation with socio-demographic, health and immune systems factors

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 recruited. A sample of faeces, T-CD4+ cell counts, and clinical, socioeconomic and demographic data were collected from each patient. Stool samples were analysed by microscopy and immunochromatography. Data were analysed by Pearsons χ2 test and the risk of each factor was measured by odds ratio bivariate analysis. RESULTS Two hundred and ten (76.9%) HIV-positive participants were infected by intestinal parasites and 16 parasite species were identified; 246 (48.9%) were pathogenic helminths, 159 (22.9%) pathogenic protozoa and 142 (28.2%) opportunistic protozoa. Trichuris trichiura, Entamoeba histolytica/dispar/moshkovskii, Ascaris lumbricoides and Giardia duodenalis were the most prevalent parasites; 52 (86.7%) of HIV-negative participants were parasitized. HIV was related to co-infection by Entamoeba spp., E. nana and Blastocystis hominis. CONCLUSIONS The high rates of parasitic infections found highlights the urgent need of environmental sanitation, health education and water distribution actions, as well as early diagnosis and treatment of intestinal parasites.

Determinantes de la capacidad funcional en personas mayores según el género

El proposito de este trabajo es identificar factores determinantes de caracter socio-demograficos, de salud y de actividad fisica que influyan en la aparicion de la discapacidad para las actividades basicas e instrumentales de la vida diaria en 380 individuos mayores de 64 anos que asisten a centros sociales de Zaragoza. Un modelo multivariante de regresion logistica analizo la capacidad funcional por sexo. Variables sociodemograficas, enfermedades cronicas y actividad fisica fueron variables explicativas. Conclusiones: las condiciones medicas son el principal marcador de la discapacidad, y la actividad fisica es una medida que se puede promover en la Atencion Primaria para reducir el riesgo de discapacidad.

The Use of Quinacrine in Nitroimidazole-resistant Giardia Duodenalis: An Old Drug for an Emerging Problem

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 clinical, prospective, observational study was conducted in patients with giardiasis treated with nitroimidazoles. Those with persistent giardiasis were provided quinacrine. Molecular characterization of Giardia isolates was performed by polymerase chain reaction amplification of a fragment of tpi and bg genes. Results Seventy-seven patients were recruited and treated with nitroimidazoles, and in 14 of 71 (20%) of patients followed up, Giardia persisted. Refractory giardiasis was associated with malaise (P = .007) and anorexia (P = .02), with previous giardiasis (P = .03), and with previous antibiotic (P = .02) or antiparasitic(P = .04) use. Quinacrine had an effectiveness rate of 100% in refractory giardiasis (n = 13; 95% confidence interval = 75-100). Molecular characterization showed that 17 (25%) Giardia isolates belonged to assemblage A, and 31 (43%) belonged to assemblage B. In refractory giardiasis, assemblage A and B were found responsible in 4 and 6 cases, respectively. Conclusions Almost 20% of patients presented persistent giardiasis, belonging to both assemblages A and B, after nitroimidazole. Short course of quinacrine was effective in treating refractory cases. Further controlled studies should evaluate its efficacy and safety.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 clinical, prospective, observational study was conducted in patients with giardiasis treated with nitroimidazoles. Those with persistent giardiasis were provided quinacrine. Molecular characterization of Giardia isolates was performed by polymerase chain reaction amplification of a fragment of tpi and bg genes. Results Seventy-seven patients were recruited and treated with nitroimidazoles, and in 14 of 71 (20%) of patients followed up, Giardia persisted. Refractory giardiasis was associated with malaise (P = .007) and anorexia (P = .02), with previous giardiasis (P = .03), and with previous antibiotic (P = .02) or antiparasitic(P = .04) use. Quinacrine had an effectiveness rate of 100% in refractory giardiasis (n = 13; 95% confidence interval = 75-100). Molecular characterization showed that 17 (25%) Giardia isolates belonged to assemblage A, and 31 (43%) belonged to assemblage B. In refractory giardiasis, assemblage A and B were found responsible in 4 and 6 cases, respectively. Conclusions Almost 20% of patients presented persistent giardiasis, belonging to both assemblages A and B, after nitroimidazole. Short course of quinacrine was effective in treating refractory cases. Further controlled studies should evaluate its efficacy and safety.