Reasons for cessation of clean intermittent catheterization after spinal cord injury: Results from the Neurogenic Bladder Research Group spinal cord injury registry

IntroductionClean intermittent catheterization (CIC) is recommended for bladder management after spinal cord injury (SCI) since it has the lowest complication rate. However, transitions from CIC to other less optimal strategies, such as indwelling catheters (IDCs) are common. In individuals with SCI who stopped CIC, we sought to determine how individual characteristics affect the bladder‐related quality of life (QoL) and the reasons for CIC cessation.MethodsThe Neurogenic Bladder Research Group registry is an observational study, evaluating neurogenic bladder‐related QoL after SCI. From 1479 participants, those using IDC or urinary conduit were asked if they had ever performed CIC, for how long, and why they stopped CIC. Multivariable regression, among participants discontinuing CIC, established associations between demographics, injury characteristics, and SCI complications with bladder‐related QoL.ResultsThere were 176 participants who had discontinued CIC; 66 (38%) were paraplegic and 110 (63%) were male. The most common reasons for CIC cessation among all participants were inconvenience, urinary leakage, and too many urine infections. Paraplegic participants who discontinued CIC had higher mean age, better fine motor scores, and lower educational attainment and employment. Multivariable regression revealed years since SCI was associated with worse bladder symptoms (neurogenic bladder symptom score), ≥4 urinary tract infections (UTIs) in a year was associated with worse satisfaction and feelings about bladder symptoms (SCI‐QoL difficulties), while tetraplegia was associated better satisfaction and feelings about bladder symptoms (SCI‐QoL difficulties).ConclusionsTetraplegics who have discontinued CIC have an improved QoL compared with paraplegics. SCI individuals who have discontinued CIC and have recurrent UTIs have worse QoL.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/153674/1/nau24172_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/153674/2/nau24172.pd

O MÉTODO AD HOC NA AVALIAÇÃO DE IMPACTOS AMBIENTAIS

The increase in the world population and their respective demands for natural resources have brought marked changes in environmental maintenance and balance, with the impact a nation's health, well-being, social development, and economic growth; what makes these agendas frequent and important objects of debates to science, politics, and economics. To contribute to these debates, the Environmental Impact Study (EIA) is an important instrument for evaluating projects and making more assertive decisions with a view to more sustainable development. The Ad Hoc method, although it presents a high degree of subjectivity, is still pointed out as one of the most accessible methods for structuring an EIA, as it presents an organized, quick, and easy interpretation of the data by the general public, showing in a clear way the environmental impacts. Several methodologies can be used for EIA, such as Checklists, Interaction Matrices, Interaction Networks (Networks), Superposition of Graphics and Simulation Models, highlighting that,  regardless of the evaluation method to be chosen, the objective must be well-being environmental, social, and economic, in other words, the sustainable development.O aumento da população mundial e suas respectivas demandas por recursos naturais vêm trazendo notáveis alterações na manutenção e equilíbrio ambiental, consequentemente impactando a saúde, o bem-estar, o desenvolvimento social e o crescimento econômico de uma nação, tornando essas pautas importantes e frequentes objetos de debates para a ciência, política e economia. De maneira a contribuir para a construção desses debates, encontra-se na Avaliação de Impacto Ambiental (AIA) um importante instrumento para a avaliação de projetos e tomadas de decisões mais assertivas com vistas a um desenvolvimento mais sustentável. Embora apresente um elevado grau de subjetividade, o método Ad Hoc é considerado um dos métodos mais acessíveis para a estruturação de um AIA, uma vez que ele apresenta uma organizada, rápida e de fácil interpretação de dados pelo público em geral, evidenciando de forma muito clara os impactos ambientais

Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population

The potential benefits of using population isolates in genetic mapping, such as reduced genetic, phenotypic and environmental heterogeneity, are offset by the challenges posed by the large amounts of direct and cryptic relatedness in these populations confounding basic assumptions of independence. We have evaluated four representative specialized methods for association testing in the presence of relatedness; (i) within-family (ii) within- and between-family and (iii) mixed-models methods, using simulated traits for 2906 subjects with known genome-wide genotype data from an extremely isolated population, the Island of Kosrae, Federated States of Micronesia. We report that mixed models optimally extract association information from such samples, demonstrating 88% power to rank the true variant as among the top 10 genome-wide with 56% achieving genome-wide significance, a >80% improvement over the other methods, and demonstrate that population isolates have similar power to non-isolate populations for observing variants of known effects. We then used the mixed-model method to reanalyze data for 17 published phenotypes relating to metabolic traits and electrocardiographic measures, along with another 8 previously unreported. We replicate nine genome-wide significant associations with known loci of plasma cholesterol, high-density lipoprotein, low-density lipoprotein, triglycerides, thyroid stimulating hormone, homocysteine, C-reactive protein and uric acid, with only one detected in the previous analysis of the same traits. Further, we leveraged shared identity-by-descent genetic segments in the region of the uric acid locus to fine-map the signal, refining the known locus by a factor of 4. Finally, we report a novel associations for height (rs17629022, P< 2.1 × 10−8

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information

The architecture of natural variation present in a contemporary population is a result of multiple population genetic forces, including population bottleneck and expansion, selection, drift, and admixture. We seek to untangle the contribution of admixture to genetic diversity on the Micronesian island of Kosrae. Toward this goal, we used a complete genetic approach by combining a dense genome-wide map of 100 000 single-nucleotide polymorphisms (SNPs) with data from uniparental markers from the mitochondrial genome and the nonrecombining portion of the Y chromosome. These markers were typed in ∼3200 individuals from Kosrae, representing 80% of the adult population of the island. We developed novel software that uses SNP data to delineate ancestry for individual segments of the genome. Through this analysis, we determined that 39% of Kosraens have some European ancestry. However, the vast majority of admixed individuals (77%) have European alleles spanning less than 10% of their genomes. Data from uniparental markers show most of this admixture to be male, introduced in the late nineteenth century. Furthermore, pedigree analysis shows that the majority of European admixture on Kosrae is because of the contribution of one individual. This approach shows the benefit of combining information from autosomal and uniparental polymorphisms and provides new methodology for determining ancestry in a population

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

It has been argued that the limited genetic diversity and reduced allelic heterogeneity observed in isolated founder populations facilitates discovery of loci contributing to both Mendelian and complex disease. A strong founder effect, severe isolation, and substantial inbreeding have dramatically reduced genetic diversity in natives from the island of Kosrae, Federated States of Micronesia, who exhibit a high prevalence of obesity and other metabolic disorders. We hypothesized that genetic drift and possibly natural selection on Kosrae might have increased the frequency of previously rare genetic variants with relatively large effects, making these alleles readily detectable in genome-wide association analysis. However, mapping in large, inbred cohorts introduces analytic challenges, as extensive relatedness between subjects violates the assumptions of independence upon which traditional association test statistics are based. We performed genome-wide association analysis for 15 quantitative traits in 2,906 members of the Kosrae population, using novel approaches to manage the extreme relatedness in the sample. As positive controls, we observe association to known loci for plasma cholesterol, triglycerides, and C-reactive protein and to a compelling candidate loci for thyroid stimulating hormone and fasting plasma glucose. We show that our study is well powered to detect common alleles explaining ≥5% phenotypic variance. However, no such large effects were observed with genome-wide significance, arguing that even in such a severely inbred population, common alleles typically have modest effects. Finally, we show that a majority of common variants discovered in Caucasians have indistinguishable effect sizes on Kosrae, despite the major differences in population genetics and environment

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.

OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. PARTICPANTS AND METHODS: Men enrolled in the IMPACT study were invited to complete a questionnaire at collaborating sites prior to each annual screening visit. The questionnaire included sociodemographic characteristics and the following measures: the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES), 36-item short-form health survey (SF-36), Memorial Anxiety Scale for Prostate Cancer, Cancer Worry Scale-Revised, risk perception and knowledge. The results of the baseline questionnaire are presented. RESULTS: A total of 432 men completed questionnaires: 98 and 160 had mutations in BRCA1 and BRCA2 genes, respectively, and 174 were controls (familial mutation negative). Participants' perception of PCa risk was influenced by genetic status. Knowledge levels were high and unrelated to genetic status. Mean scores for the HADS and SF-36 were within reported general population norms and mean IES scores were within normal range. IES mean intrusion and avoidance scores were significantly higher in BRCA1/BRCA2 carriers than in controls and were higher in men with increased PCa risk perception. At the multivariate level, risk perception contributed more significantly to variance in IES scores than genetic status. CONCLUSION: This is the first study to report the psychosocial profile of men with BRCA1/BRCA2 mutations undergoing PCa screening. No clinically concerning levels of general or cancer-specific distress or poor quality of life were detected in the cohort as a whole. A small subset of participants reported higher levels of distress, suggesting the need for healthcare professionals offering PCa screening to identify these risk factors and offer additional information and support to men seeking PCa screening

Optical properties of Ce-doped SiO2 films: From isolated Ce3+ ions to formation of cerium silicate

Équipe 104 : NanomatériauxInternational audienceThe optical properties of Ce-doped SiO2 thin films were investigated by photoluminescence spectroscopy. Strong blue luminescence is obtained at room temperature from as-deposited films. The dependence of the luminescence on both Ce content and annealing temperature is then systematically studied. The luminescence is found to shift to higher wavelength as the annealing temperature increases. Moreover, the integrated luminescence intensity first increases for annealing temperatures between 500 degrees C and 900 degrees C as a result of the activation of Ce3+ ions and eventually decreases for higher temperatures which is interpreted by the formation of cerium clusters. At 1100 degrees C, the formation of a cerium silicate phase is observed by infrared absorption spectroscopy. X-ray diffraction measurements confirm the formation of an orthorhombic Ce6Si4(SiO4)(2)O-13 compound

Atomic scale investigation of Si and Ce-rich nanoclusters in Ce-doped SiO1.5 thin films

International audienceThe optical properties and the nanoscale structure of Ce‐doped SiO1.5 thin films elaborated by evaporation were investigated by photoluminescence and atom probe tomography. Strong Ce‐related blue luminescence is observed on the 1100 °C annealed sample. Atom probe tomography experiments give evidence of the formation of a cerium silicate having a stoichiometry compatible with Ce2Si2O7. Moreover, we further observe the formation of pure Si nanocrystals (Si‐ncs) which results from the phase separation of the SiO1.5 film. No optical signal from Si‐ncs was observed at least for the 3% Ce‐doped SiO1.5 film considered in this study. We analyze the size distribution of both Si‐ncs and Ce2Si2O7 particles. Finally, the Si and Ce diffusion coefficients were estimated based on atom probe tomography characterization

Direct Insight into Ce-Silicates/Si-Nanoclusters Snowman-Like Janus Nanoparticles Formation in Ce-Doped SiO x Thin Layers

International audienceThe present work reports a nanoscale chemical and structural study on the influence of Ce content in Ce-doped SiO1.5 thin films via atom probe tomography (APT). Using this technique, we can explore 3D mapping of the atomic distribution inside a material. Such an investigation is crucial to optimize the optical properties of Ce-doped SiOx films. As a result, we clearly identify the influence of cerium on the phase separation process, on the silicon nanocrystal growth, and on the formation of cerium silicate nanoparticles occurring during annealing treatments. The observed nanoscale structure is correlated with the optical properties measured by room temperature photoluminescence spectroscopy thus leading to a comprehensive understanding of the properties of Ce-doped SiO1.5 thin films