367 research outputs found

    Are Parent Activation and Health Literacy Distinct Concepts? A Study in Low Income Urban Populations

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    Patient activation (the knowledge, confidence, willingness, and skills to manage one’s healthcare) and health literacy have well-established associations with health and healthcare outcomes in adults. However, little is known about parent activation on behalf of children and its relation to health literacy. Our objective was to examine relations between parent activation, health literacy, and parent-provider relationship quality. We surveyed 316 Spanish- or English-speaking parents of publicly-insured patients of a general pediatrics clinic. Surveys included the Parent-Patient Activation Measure (P-PAM), the Newest Vital Sign (NVS), and parent-provider relationship measures. We used chi-square analyses and logistic regression to explore associations stratified by survey language. Spanish-speaking parents had significantly lower levels of both parent activation and health literacy compared with English-speaking parents (

    Addressing Psychosocial Adversity Within the Patient-Centered Medical Home: Expert-Created Measurable Standards

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    The Patient-Centered Medical Home (PCMH) may be improved by embedding identification and response for patients’ experiences with psychosocial adversity, but how this might optimally occur in practice has not been well-specified. We sought input from an expert panel to define feasible elements that could adapt the PCMH to adequately respond to patients’ experiences with psychosocial adversity. From December 2012 through September 2013, we used a Delphi process to systematically obtain expert opinions and reach consensus. We invited 37 experts to participate in three successive and iterative rounds of questionnaires, with each round based on aggregated, de-identified data from the prior round. We first asked experts to generate elements to adapt the PCMH, using the National Committee for Quality Assurance (NCQA’s) established six PCMH standards as the foundation. We then asked the experts to rate these elements on a 5-point Likert scale, and finally specify what they considered the most and least valuable elements. Eighteen of the 37 (49%) invited experts responded to the first survey, and constituted our sample. Experts identified 35 elements that fell under the six NCQA standards. The top rated elements included using a screening tool to identify adversity; training providers to address psychosocial adversity; having a team member with mental health expertise; providing culturally-competent care; and having written patient information related to adversity and coping. This study derived key elements that may enhance the PCMH’s ability to improve patient outcomes by purposefully identifying and responding to their psychosocial adversity

    Context-dependent conservation responses to emerging wildlife diseases

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    Emerging infectious diseases pose an important threat to wildlife. While established protocols exist for combating outbreaks of human and agricultural pathogens, appropriate management actions before, during, and after the invasion of wildlife pathogens have not been developed. We describe stage-specific goals and management actions that minimize disease impacts on wildlife, and the research required to implement them. Before pathogen arrival, reducing the probability of introduction through quarantine and trade restrictions is key because prevention is more cost effective than subsequent responses. On the invasion front, the main goals are limiting pathogen spread and preventing establishment. In locations experiencing an epidemic, management should focus on reducing transmission and disease, and promoting the development of resistance or tolerance. Finally, if pathogen and host populations reach a stable stage, then recovery of host populations in the face of new threats is paramount. Successful management of wildlife disease requires risk-taking, rapid implementation, and an adaptive approach."Funding was provided by the US National Science Foundation (grants EF-0914866, DGE-0741448, DEB-1115069, DEB-1336290) and the National Institutes of Health (grant 1R010AI090159)."https://esajournals.onlinelibrary.wiley.com/doi/abs/10.1890/14024

    Mapping gene associations in human mitochondria using clinical disease phenotypes

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    Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical phenotypes. Such a catalog would be useful to develop methods to analyze human phenotypic data, to determine genotype-phenotype relations among many genes and diseases, and to support the clinical diagnosis of mitochondrial disorders. Here we establish a clinical phenotype catalog of 174 mitochondrial disease genes and study associations of diseases and genes. Phenotypic features such as clinical signs and symptoms were manually annotated from full-text medical articles and classified based on the hierarchical MeSH ontology. This classification of phenotypic features of each gene allowed for the comparison of diseases between different genes. In turn, we were then able to measure the phenotypic associations of disease genes for which we calculated a quantitative value that is based on their shared phenotypic features. The results showed that genes sharing more similar phenotypes have a stronger tendency for functional interactions, proving the usefulness of phenotype similarity values in disease gene network analysis. We then constructed a functional network of mitochondrial genes and discovered a higher connectivity for non-disease than for disease genes, and a tendency of disease genes to interact with each other. Utilizing these differences, we propose 168 candidate genes that resemble the characteristic interaction patterns of mitochondrial disease genes. Through their network associations, the candidates are further prioritized for the study of specific disorders such as optic neuropathies and Parkinson disease. Most mitochondrial disease phenotypes involve several clinical categories including neurologic, metabolic, and gastrointestinal disorders, which might indicate the effects of gene defects within the mitochondrial system. The accompanying knowledgebase (http://www.mitophenome.org/) supports the study of clinical diseases and associated genes

    Primary mediastinal B-cell lymphoma: detection of BCL2 gene rearrangements by PCR analysis and FISH

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    Primary mediastinal large B-cell lymphoma (PMBCL) has a characteristic clinical presentation, morphology, and immunophenotype, representing a clinically favorable subgroup of diffuse large B-cell lymphoma (DLBCL). By gene expression profiling (GEP), PMBCL shares features with classical Hodgkin lymphoma (cHL). Of further interest, BCL6 gene mutations and BCL6 and/or MUM1 expression in a number of PMBCLs have supported an activated B-cell (ABC) origin. Several studies, including GEP, have failed to detect BCL2 gene rearrangements (GRs) in PMBCL. An index case of t(14; 18)+ PMBCL prompted our study of the incidence of BCL2 GRs in PMBCL by polymerase chain reaction (PCR)/fluorescence in situ hybridization (FISH) analyses and its possible clinical impact. Twenty-five retrospectively identified, well-defined PMBCLs (five with cytogenetics) from three institutions were analyzed for a BCL2 GR by PCR/FISH analyses. The formalin-fixed, paraffin-embedded tissue blocks of 24 available cases were also analyzed by BCL2 immunohistochemistry (IHC). Of the five with cytogenetics, two had a t(14; 18) (q32; q21). Of the 25 analyzed by PCR, 2 had no amplifiable DNA (aDNA), including 1 t(14; 18)+ case. Of those with aDNA, two showed a BCL2 GR; by FISH analysis, three demonstrated a BCL2 GR. BCL2 protein expression by IHC analysis was variably detected in 21 out of 24 (strongly, uniformly expressed: 6, including all with a t(14; 18) or a BCL2 gene rearrangement; moderately weakly expressed in a subset of the malignant cells: 15). Available clinical follow-up of this BCL2+ subset showed a similar course to the other PMBCL cases. Our results imply that a subset of PMBCL [(4 out of 24 analyzed) in our series] may be of GC origin. A larger study is necessary to determine any clinical significance

    Integrative Genomic and Transcriptomic Profiling of Pulmonary Sarcomatoid Carcinoma Identifies Molecular Subtypes Associated With Distinct Immune Features and Clinical Outcomes

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    BACKGROUND: Pulmonary sarcomatoid carcinoma (PSC) is a rare and aggressive subtype of non-small cell lung cancer (NSCLC), characterized by the presence of epithelial and sarcoma-like components. The molecular and immune landscape of PSC has not been well defined. METHODS: Multiomics profiling of 21 pairs of PSCs with matched normal lung tissues was performed through targeted high-depth DNA panel, whole-exome, and RNA sequencing. We describe molecular and immune features that define subgroups of PSC with disparate genomic and immunogenic features as well as distinct clinical outcomes. RESULTS: In total, 27 canonical cancer gene mutations were identified, with CONCLUSIONS: We provided detailed insight into the mutational landscape of PSC and identified two molecular subtypes associated with prognosis. IM-H tumors were associated with favorable recurrence-free survival and overall survival, highlighting the importance of tumor immune infiltration in the biological and clinical features of PSCs

    Temporal stability of the neodymium isotope signature of the Holocene to glacial North Atlantic

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    Author Posting. © American Geophysical Union, 2006. This article is posted here by permission of American Geophysical Union for personal use, not for redistribution. The definitive version was published in Paleoceanography 21 (2006): PA4102, doi:10.1029/2006PA001294.The neodymium isotopic composition of marine precipitates is increasingly recognized as a powerful tool for identifying changes in ocean circulation and mixing on million year to millennial time-scales. Unlike nutrient proxies such as δ13C or Cd/Ca, Nd isotopes are not thought to be altered in any significant way by biological processes, and thus can serve as a quasi-conservative water mass tracer. However, the application of Nd isotopes in understanding the role of thermohaline circulation in rapid climate change is currently hindered by the lack of direct constraints on the signature of the North Atlantic end-member through time. Here we present the first results of Nd isotopes measured in U-Th dated deep-sea corals from the New England seamounts in the northwest Atlantic Ocean. Our data are consistent with the conclusion that the Nd isotopic composition of North Atlantic deep and intermediate water has remained nearly constant through the last glacial cycle. The results address longstanding concerns that there may have been significant changes in the Nd isotopic composition of the North Atlantic end member during this interval, and substantiate the applicability of this novel tracer on millennial time-scales for palaeoceanography research.This study was supported by the Comer Science and Education Foundation and the Vetlesen Foundation Climate Center at L-DEO

    Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas

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    This integrated, multiplatform PanCancer Atlas study co-mapped and identified distinguishing molecular features of squamous cell carcinomas (SCCs) from five sites associated with smokin
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