118 research outputs found

    Reflections on the Role of the Ethics Center at WMU

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    Center for the Study of Ethics in Society: Celebrating 25 Years - Presented November 15, 201

    Decanulación en Paciente Pediátrica con Enfermedad Neuromuscular: un reporte de caso

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    La enfermedad de multiminicores es un trastorno neuromuscular hereditario caracterizado por la presencia de múltiples 'cores' en biopsia muscular y características clínicas de una miopatía congénita. .El presente caso trata de una paciente de 10 años de edad, con diagnóstico de enfermedad neuromuscular multiminicores, traqueostomizada desde los 7 años de edad por destete fallido y debilidad muscular. La paciente fue derivada al Departamento de Rehabilitación Cardio-respiratoria del hospital de Clinicas de la Facultad de Ciencias Médicas de la Universidad Nacional de Asunción, presentando en su primera evaluación dependencia crónica de oxigeno (por más de 12 meses), tos débil y no funcional con flujo pico tosido e inferior a 160 L/m, insuficiencia respiratoria crónica e hipercapnia (53 mmHg de CO2ET). Durante su seguimiento en nuestro departamento fueron seguidas las pautas de Rehabilitación Respiratoria contempladas en el Proyecto de evaluación, tratamiento y seguimiento de pacientes con Enfermedades Neuromusculares, y aprobado por el Consejo Superior de la Facultad de Ciencias Médicas de la Universidad Nacional de Asunción, dichas pautas están fundamentadas en los estudios y publicaciones científicas del  Dr. John  Bach ( Rudgers University, Newart, Nueva Jersey-EEUU) y su equipo colaborador del Grupo Iberoamericano de Cuidados Respiratorios en Enfermedades Neuromusculares. Como resultado final del tratamiento y seguimiento aplicado por más de un año la paciente fue decanulada exitosamente, en un consultorio para pacientes ambulatorios, sin descompensaciones hemodinámicas, con una excelente tolerancia y sin requerimiento de internaciones hospitalarias. PALABRAS CLAVES: Enfermedad Neuromuscular, Traqueotomía, Rehabilitación Respiratoria, Decanulación, Enfermedad Multicores

    Get screened: a pragmatic randomized controlled trial to increase mammography and colorectal cancer screening in a large, safety net practice

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    Abstract Background Most randomized controlled trials of interventions designed to promote cancer screening, particularly those targeting poor and minority patients, enroll selected patients. Relatively little is known about the benefits of these interventions among unselected patients. Methods/Design "Get Screened" is an American Cancer Society-sponsored randomized controlled trial designed to promote mammography and colorectal cancer screening in a primary care practice serving low-income patients. Eligible patients who are past due for mammography or colorectal cancer screening are entered into a tracking registry and randomly assigned to early or delayed intervention. This 6-month intervention is multimodal, involving patient prompts, clinician prompts, and outreach. At the time of the patient visit, eligible patients receive a low-literacy patient education tool. At the same time, clinicians receive a prompt to remind them to order the test and, when appropriate, a tool designed to simplify colorectal cancer screening decision-making. Patient outreach consists of personalized letters, automated telephone reminders, assistance with scheduling, and linkage of uninsured patients to the local National Breast and Cervical Cancer Early Detection program. Interventions are repeated for patients who fail to respond to early interventions. We will compare rates of screening between randomized groups, as well as planned secondary analyses of minority patients and uninsured patients. Data from the pilot phase show that this multimodal intervention triples rates of cancer screening (adjusted odds ratio 3.63; 95% CI 2.35 - 5.61). Discussion This study protocol is designed to assess a multimodal approach to promotion of breast and colorectal cancer screening among underserved patients. We hypothesize that a multimodal approach will significantly improve cancer screening rates. The trial was registered at Clinical Trials.gov NCT00818857http://deepblue.lib.umich.edu/bitstream/2027.42/78264/1/1472-6963-10-280.xmlhttp://deepblue.lib.umich.edu/bitstream/2027.42/78264/2/1472-6963-10-280.pdfPeer Reviewe

    Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

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    Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of Type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or epigenetic effects on HNF1B gene expression. We previously found single-nucleotide polymorphisms (SNPs) at the HNF1B locus to be associated with endometrial cancer, and now report extensive fine-mapping and in silico and laboratory analyses of this locus. Analysis of 1184 genotyped and imputed SNPs in 6608 Caucasian cases and 37 925 controls, and 895 Asian cases and 1968 controls, revealed the best signal of association for SNP rs11263763 (P = 8.4 × 10(-14), odds ratio = 0.86, 95% confidence interval = 0.82-0.89), located within HNF1B intron 1. Haplotype analysis and conditional analyses provide no evidence of further independent endometrial cancer risk variants at this locus. SNP rs11263763 genotype was associated with HNF1B mRNA expression but not with HNF1B methylation in endometrial tumor samples from The Cancer Genome Atlas. Genetic analyses prioritized rs11263763 and four other SNPs in high-to-moderate linkage disequilibrium as the most likely causal SNPs. Three of these SNPs map to the extended HNF1B promoter based on chromatin marks extending from the minimal promoter region. Reporter assays demonstrated that this extended region reduces activity in combination with the minimal HNF1B promoter, and that the minor alleles of rs11263763 or rs8064454 are associated with decreased HNF1B promoter activity. Our findings provide evidence for a single signal associated with endometrial cancer risk at the HNF1B locus, and that risk is likely mediated via altered HNF1B gene expression

    Exploring the development of a cultural care framework for European caring science

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    The aim of this paper is to discuss the development of a cultural care framework that seeks to inform and embrace the philosophical ideals of caring science. Following a review of the literature that identified a lack of evidence of an explicit relationship between caring science and cultural care, a number of well-established transcultural care frameworks were reviewed. Our purpose was to select one that would resonate with underpinning philosophical values of caring science and that drew on criteria generated by the European Academy of Caring Science members. A modified framework based on the work of Giger and Davidhizar was developed as it embraced many of the values such as humanism that are core to caring science practice. The proposed caring science framework integrates determinants of cultural lifeworld-led care and seeks to provide clear directions for humanizing the care of individuals. The framework is offered to open up debate and act as a platform for further academic enquiry

    A Genome Wide Association Study of arabinoxylan content in 2-row spring barley grain

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    In barley endosperm arabinoxylan (AX) is the second most abundant cell wall polysaccharide and in wheat it is the most abundant polysaccharide in the starchy endosperm walls of the grain. AX is one of the main contributors to grain dietary fibre content providing several health benefits including cholesterol and glucose lowering effects, and antioxidant activities. Due to its complex structural features, AX might also affect the downstream applications of barley grain in malting and brewing. Using a high pressure liquid chromatography (HPLC) method we quantified AX amounts in mature grain in 128 spring 2-row barley accessions. Amounts ranged from ~ 5.2 μg/g to ~ 9 μg/g. We used this data for a Genome Wide Association Study (GWAS) that revealed three significant quantitative trait loci (QTL) associated with grain AX levels which passed a false discovery threshold (FDR) and are located on two of the seven barley chromosomes. Regions underlying the QTLs were scanned for genes likely to be involved in AX biosynthesis or turnover, and strong candidates, including glycosyltransferases from the GT43 and GT61 families and glycoside hydrolases from the GH10 family, were identified. Phylogenetic trees of selected gene families were built based on protein translations and were used to examine the relationship of the barley candidate genes to those in other species. Our data reaffirms the roles of existing genes thought to contribute to AX content, and identifies novel QTL (and candidate genes associated with them) potentially influencing the AX content of barley grain. One potential outcome of this work is the deployment of highly associated single nucleotide polymorphisms markers in breeding programs to guide the modification of AX abundance in barley grain

    Comparing Notes: Recording and Criticism

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    This chapter charts the ways in which recording has changed the nature of music criticism. It both provides an overview of the history of recording and music criticism, from the advent of Edison’s Phonograph to the present day, and examines the issues arising from this new technology and the consequent transformation of critical thought and practice
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