Cornelia de Lange Syndrome (CdLS) and 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 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

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.

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, Nagelkerke's 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.

The main objective of this paper is to examine the relationship between individual time preference for health and money. To that end, we tested whether individuals discount their own health at the same rate as their own money and, similarly, whether they discount social health in the same terms as social money. To offer private and social money and health choices is, to the best of our knowledge, new in the literature on the estimation of time preferences and, in our view, represents a valid way in which to respond to the question of the uniform or differential discount of health, as against monetary, consequences. The results of our estimation suggest that a sample of students exhibit higher time preference rates for health than money, this being the case when the exchanges are both private and public.

SummaryThe 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.