Contos de solenes entardeceres: vivências e rotinas singulares do cuidador da pessoa com alzheimer

O interesse pela análise do quotidiano do cuidador familiar de uma pessoa com alzheimer tem subjacente uma tentativa de compreensão de mundos [únicos] de vida. O pressuposto de que as famílias são cada vez mais pluralistas no seu «modo de se apresentarem» à sociedade exige do investigador social um desarmamento relativamente às tradicionais conceções de famílias. As experiências dos cuidados à pessoa com alzheimer foram alvo de um «olhar» qualitativo e em profundidade, «alicerçado» num quadro teórico ancorado na gerontologia e na sociologia da vida quotidiana. Olhámos para as experiências dos cuidados com três objetivos centrais: compreender as reações e representações associadas ao diagnóstico, à doença e ao cuidar; compreender que aspetos da história de vida familiar do cuidador são mobilizados para a experiência dos cuidados e que transformações se observam no quotidiano do cuidador em três dimensões: no tempo, no espaço e na corporalidade. Através de seis entrevistas semi-diretivas a seis cuidadores familiares e, com recurso à observação direta voltada para o domicílio onde são prestados os cuidados, fomos encontrar histórias feitas de ruturas e continuidades com as relações e os acontecimentos vividos ao longo da trajetória de vida e quotidianos sempre novos, marcados por novos tempos, novos espaços, novos corpos e novas identidades.There is an implicit aim behind the interest in studying the daily life of a family caregiver providing care and assistance to someone with Alzheimer’s, which is to try to understand [unique] «worlds of life». The assumption that families are more and more pluralistic in terms of «how they present themselves» to society nowadays requires from the social investigator a certain withdrawal regarding the old and traditional concepts of family(ies). The experiments carried out on the various types of assistance provided to the individual with Alzheimer’s have been «looked upon» in a qualitative and thorough way, «grounded» on a theoretical framework anchored in daily life sociology and gerontology. Our analysis of the caregiving experiences pursued three main goals: understanding the reactions and representations associated with the diagnosis, the disease and the process of caring; understanding which aspects of the caregiver’s family background are mobilized to the caregiving experience; and what kind of changes take place in the caregiver’s daily life in terms of time, space and corporality. Through six semi-directive interviews to six family caregivers, carried out with the help of the direct method of observation of the household where caregiving is provided, we have encountered stories of both dissension and reconciliation with the relationships and events experienced throughout their lives, apart from ever new daily lives, characterized by new times, new spaces, new bodies and new identities

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Optimization of adsorptive removal of α-toluic acid by CaO2 nanoparticles using response surface methodology

The present work addresses the optimization of process parameters for adsorptive removal of α-toluic acid by calcium peroxide (CaO2) nanoparticles using response surface methodology (RSM). CaO2 nanoparticles were synthesized by chemical precipitation method and confirmed by Transmission electron microscopy (TEM) and high-resolution TEM (HRTEM) analysis which shows the CaO2 nanoparticles size range of 5–15 nm. A series of batch adsorption experiments were performed using CaO2 nanoparticles to remove α-toluic acid from the aqueous solution. Further, an experimental based central composite design (CCD) was developed to study the interactive effect of CaO2 adsorbent dosage, initial concentration of α-toluic acid, and contact time on α-toluic acid removal efficiency (response) and optimization of the process. Analysis of variance (ANOVA) was performed to determine the significance of the individual and the interactive effects of variables on the response. The model predicted response showed a good agreement with the experimental response, and the coefficient of determination, (R2) was 0.92. Among the variables, the interactive effect of adsorbent dosage and the initial α-toluic acid concentration was found to have more influence on the response than the contact time. Numerical optimization of process by RSM showed the optimal adsorbent dosage, initial concentration of α-toluic acid, and contact time as 0.03 g, 7.06 g/L, and 34 min respectively. The predicted removal efficiency was 99.50%. The experiments performed under these conditions showed α-toluic acid removal efficiency up to 98.05%, which confirmed the adequacy of the model prediction