406 research outputs found

    The social, psychological, emotional morbidity and adjustment techniques for women with anal incontinence following Obstetric Anal Sphincter Injury: use of a word picture to identify a hidden syndrome

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    BACKGROUND: To identify the emotional, social and psychological consequences and recovery process of anal incontinence (AI) following obstetric anal sphincter injuries (OASIS) and explore if this can be identified as a recognisable syndrome with visual representation. METHODS: A qualitative approach was adopted for this study. Data derived from case studies (n = 81) and interviews (n = 14) with women with AI after OASIS was used to identify the emotional, social and psychological consequences of AI after OASIS. Keywords and synonyms were extracted and the power of these statements displayed as a ‘word picture’. The validity and authenticity of the word picture was then assessed by: a questionnaire sent to a group of mothers who had experienced this condition (n = 16); a focus group attended by mothers (n = 14) and supported by health professionals (n = 6) and via interviews with health professionals (n = 12) who were involved with helping mothers with AI following OASIS. RESULTS: Women with AI resulting from OASIS have a specific syndrome – the ‘OASIS Syndrome’ - which we have uniquely visualised as a ‘word picture’. They feel unclean which results in dignity loss, psychosexual morbidity, isolation, embarrassment, guilt, fear, grief, feeling low, anxiety, loss of confidence, a feeling of having been mutilated and a compromised role as a mother. Coping relies on repetitive washing (which may become a ritual), planning daily activities around toiletry needs, sharing, family support, employment if possible and attention to the baby. Recovery and healing is through care of the child and hope generated by love within the family. CONCLUSIONS: This study has identified a previously unrecognised ‘OASIS Syndrome’ and, by way of a new and unique ‘word picture’, revealed a hidden condition. There should be greater awareness by the public and profession about the ‘OASIS Syndrome’ and a mechanism for early identification of the condition and referral for management. This, if successful, would overcome the barrier of silence which surrounds this currently unspoken taboo

    Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study

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    BACKGROUND: Family studies and heritability estimates provide evidence for a genetic contribution to variation in the human life span. METHODS:We conducted a genome wide association study (Affymetrix 100K SNP GeneChip) for longevity-related traits in a community-based sample. We report on 5 longevity and aging traits in up to 1345 Framingham Study participants from 330 families. Multivariable-adjusted residuals were computed using appropriate models (Cox proportional hazards, logistic, or linear regression) and the residuals from these models were used to test for association with qualifying SNPs (70, 987 autosomal SNPs with genotypic call rate [greater than or equal to]80%, minor allele frequency [greater than or equal to]10%, Hardy-Weinberg test p [greater than or equal to] 0.001).RESULTS:In family-based association test (FBAT) models, 8 SNPs in two regions approximately 500 kb apart on chromosome 1 (physical positions 73,091,610 and 73, 527,652) were associated with age at death (p-value < 10-5). The two sets of SNPs were in high linkage disequilibrium (minimum r2 = 0.58). The top 30 SNPs for generalized estimating equation (GEE) tests of association with age at death included rs10507486 (p = 0.0001) and rs4943794 (p = 0.0002), SNPs intronic to FOXO1A, a gene implicated in lifespan extension in animal models. FBAT models identified 7 SNPs and GEE models identified 9 SNPs associated with both age at death and morbidity-free survival at age 65 including rs2374983 near PON1. In the analysis of selected candidate genes, SNP associations (FBAT or GEE p-value < 0.01) were identified for age at death in or near the following genes: FOXO1A, GAPDH, KL, LEPR, PON1, PSEN1, SOD2, and WRN. Top ranked SNP associations in the GEE model for age at natural menopause included rs6910534 (p = 0.00003) near FOXO3a and rs3751591 (p = 0.00006) in CYP19A1. Results of all longevity phenotype-genotype associations for all autosomal SNPs are web posted at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007. CONCLUSION: Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are proposed as contributing to longevity and healthy aging

    Genetic Correlates of Brain Aging on MRI and Cognitive Test Measures: A Genome-Wide Association and Linkage Analysis in the Framingham Study

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    BACKGROUND: Brain magnetic resonance imaging (MRI) and cognitive tests can identify heritable endophenotypes associated with an increased risk of developing stroke, dementia and Alzheimer's disease (AD). We conducted a genome-wide association (GWA) and linkage analysis exploring the genetic basis of these endophenotypes in a community-based sample. METHODS: A total of 705 stroke- and dementia-free Framingham participants (age 62 +9 yrs, 50% male) who underwent volumetric brain MRI and cognitive testing (1999–2002) were genotyped. We used linear models adjusting for first degree relationships via generalized estimating equations (GEE) and family based association tests (FBAT) in additive models to relate qualifying single nucleotide polymorphisms (SNPs, 70,987 autosomal on Affymetrix 100K Human Gene Chip with minor allele frequency ≥ 0.10, genotypic call rate ≥ 0.80, and Hardy-Weinberg equilibrium p-value ≥ 0.001) to multivariable-adjusted residuals of 9 MRI measures including total cerebral brain (TCBV), lobar, ventricular and white matter hyperintensity (WMH) volumes, and 6 cognitive factors/tests assessing verbal and visuospatial memory, visual scanning and motor speed, reading, abstract reasoning and naming. We determined multipoint identity-by-descent utilizing 10,592 informative SNPs and 613 short tandem repeats and used variance component analyses to compute LOD scores. RESULTS: The strongest gene-phenotype association in FBAT analyses was between SORL1 (rs1131497; p = 3.2 × 10-6) and abstract reasoning, and in GEE analyses between CDH4 (rs1970546; p = 3.7 × 10-8) and TCBV. SORL1 plays a role in amyloid precursor protein processing and has been associated with the risk of AD. Among the 50 strongest associations (25 each by GEE and FBAT) were other biologically interesting genes. Polymorphisms within 28 of 163 candidate genes for stroke, AD and memory impairment were associated with the endophenotypes studied at p < 0.001. We confirmed our previously reported linkage of WMH on chromosome 4 and describe linkage of reading performance to a marker on chromosome 18 (GATA11A06), previously linked to dyslexia (LOD scores = 2.2 and 5.1). CONCLUSION: Our results suggest that genes associated with clinical neurological disease also have detectable effects on subclinical phenotypes. These hypothesis generating data illustrate the use of an unbiased approach to discover novel pathways that may be involved in brain aging, and could be used to replicate observations made in other studies.National Institutes of Health National Center for Research Resources Shared Instrumentation grant (ISI0RR163736-01A1); National Heart, Lung, and Blood Institute's Framingham Heart Study (N01-HC-25195); National Institute of Aging (5R01-AG08122, 5R01-AG16495); National Institute of Neurological Disorders and Stroke (5R01-NS17950

    Knowledge engineering with image data in real-world settings

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    We report on experiences in adding ML-trained visual recognition modules to a human-oriented image semantic annotation tool which creates RDF descriptions of images and scene contents. We conclude that ML cannot replace expert humans but can aid them in various ways, some unexpected. Semantic markup systems can be to designed to align human and machine blind spots. Finally, we briefly outline directions for future work

    A Leptin-regulated Circuit Controls Glucose Mobilization During Noxious Stimuli

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    Adipocytes secrete the hormone leptin to signal the sufficiency of energy stores. Reductions in circulating leptin concentrations reflect a negative energy balance, which augments sympathetic nervous system (SNS) activation in response to metabolically demanding emergencies. This process ensures adequate glucose mobilization despite low energy stores. We report that leptin receptor–expressing neurons (LepRb neurons) in the periaqueductal gray (PAG), the largest population of LepRb neurons in the brain stem, mediate this process. Application of noxious stimuli, which often signal the need to mobilize glucose to support an appropriate response, activated PAG LepRb neurons, which project to and activate parabrachial nucleus (PBN) neurons that control SNS activation and glucose mobilization. Furthermore, activating PAG LepRb neurons increased SNS activity and blood glucose concentrations, while ablating LepRb in PAG neurons augmented glucose mobilization in response to noxious stimuli. Thus, decreased leptin action on PAG LepRb neurons augments the autonomic response to noxious stimuli, ensuring sufficient glucose mobilization during periods of acute demand in the face of diminished energy stores

    Optimizing allocation of curricular content across the undergraduate & graduate medical education continuum

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    BACKGROUND: Medical educators struggle to incorporate socio-cultural topics into crowded curricula. The continuum of learning includes undergraduate and graduate medical education. Utilizing an exemplar socio-cultural topic, we studied the feasibility of achieving expert consensus among two groups of faculty (experts in medical education and experts in social determinants of health) on which aspects of the topic could be taught during undergraduate versus graduate medical education. METHODS: A modified Delphi method was used to generate expert consensus on which learning objectives of social determinants of health are best taught at each stage of medical education. Delphi respondents included experts in medical education or social determinants of health. A survey was created using nationally published criteria for social determinants of health learning objectives. Respondents were asked 1) which learning objectives were necessary for every physician (irrespective of specialty) to develop competence upon completion of medical training and 2) when the learning objective should be taught. Respondents were also asked an open-ended question on how they made the determination of when in the medical education continuum the learning objective should be taught. RESULTS: 26 out of 55 experts (13 social determinants of health and 13 education experts) responded to all 3 Delphi rounds. Experts evaluated a total of 49 learning objectives and were able to achieve consensus for at least one of the two research questions for 45 of 49 (92%) learning objectives. 50% more learning objectives reached consensus for inclusion in undergraduate (n = 21) versus graduate medical education (n = 14). CONCLUSIONS: A modified Delphi technique demonstrated that experts could identify key learning objectives of social determinants of health needed by all physicians and allocate content along the undergraduate and graduate medical education continuum. This approach could serve as a model for similar socio-cultural content. Future work should employ a qualitative approach to capture principles utilized by experts when making these decisions

    The Iowa Homemaker vol.21, no.3

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    Freshmen – Please Note, page 2 Hospital Research, Ann Koebel, page 3 Orchids to Pat, page 4 The Army Eats Well, Mary I. Barber, page 5 Making Things Grow, Betty Ann Iverson, page 6 Look Before You Snap, Kathryn Monson, page 7 Major Departments on Review, Elizabeth Murfield, page 8 Patriotic Sally, Patricia Hayes, page 10 What’s New in Home Economics, Dorothy Olson, page 12 Summer Job Holders Reap Experience, page 14 A List of Don’ts, Costume Design Class, page 15 We Salute Campus Leaders, Margaret Kirchner, page 16 Home Economics Looks to Future, M. L. Morton, page 17 Behind Bright Jackets, Julie Wendel, page 18 Alums in the News, Mary Elizabeth Sather, page 20 Nutrition for Defense, Dorothy Ann Roost, page 22 That Personal Touch, Margaret Ann Clarke, page 23 Journalistic Spindles, Elizabeth Hanson, page 2

    Drift Macroalgal Distribution In Northern Gulf of Mexico Seagrass Meadows

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    Drift macroalgae, often found in clumps or mats adjacent to or within seagrass beds, can increase the value of seagrass beds as habitat for nekton via added food resources and structural complexity. But, as algal biomass increases, it can also decrease light availability, inhibit faunal movements, smother benthic communities, and contribute to hypoxia, all of which can reduce nekton abundance. We quantified the abundance and distribution of drift macroalgae within seagrass meadows dominated by turtle grass Thalassia testudinum across the northern Gulf of Mexico and compared seagrass characteristics to macroalgal biomass and distribution. Drift macroalgae were most abundant in areas with higher seagrass shoot densities and intermediate canopy heights. We did not find significant relationships between algal biomass and point measures of salinity, temperature, or depth. The macroalgal genera Laurencia and Gracilaria were present across the study region, Agardhiella and Digenia were collected in the western Gulf of Mexico, and Acanthophora was collected in the eastern Gulf of Mexico. Our survey revealed drift algae to be abundant and widespread throughout seagrass meadows in the northern Gulf of Mexico, which likely influences the habitat value of seagrass ecosystems

    Identification of Human Papillomavirus Infection in Cancer Tissue by Targeted Next-generation Sequencing

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    Human papillomaviruses (HPV) are oncogenic DNA viruses implicated in squamous cell carcinomas of several anatomic sites, as well as endocervical adenocarcinomas. Identification of HPV is an actionable finding in some carcinomas, potentially influencing tumor classification, prognosis, and management. We incorporated capture probes for oncogenic HPV strains 16 and 18 into a broader next-generation sequencing (NGS) panel designed to identify actionable mutations in solid malignancies. A total of 21 head and neck, genitourinary and gynecological squamous cell carcinomas and endocervical adenocarcinomas were sequenced as part of the UNCSeq project. Using p16 immunohistochemical results as the gold standard, we set a cutoff for proportion of aligned HPV reads that maximized performance of our NGS assay (92% sensitive, 100% specific for HPV). These results suggest that sequencing of oncogenic pathogens can be incorporated into targeted NGS panels, extending the clinical utility of genomic assays
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