517 results on '"Miller KE"'
Search Results
2. Organic molecules in the Sheepbed Mudstone, Gale Crater, Mars.
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Freissinet, C, Glavin, DP, Mahaffy, PR, Miller, KE, Eigenbrode, JL, Summons, RE, Brunner, AE, Buch, A, Szopa, C, Archer, PD, Franz, HB, Atreya, SK, Brinckerhoff, WB, Cabane, M, Coll, P, Conrad, PG, Des Marais, DJ, Dworkin, JP, Fairén, AG, François, P, Grotzinger, JP, Kashyap, S, Ten Kate, IL, Leshin, LA, Malespin, CA, Martin, MG, Martin-Torres, FJ, McAdam, AC, Ming, DW, Navarro-González, R, Pavlov, AA, Prats, BD, Squyres, SW, Steele, A, Stern, JC, Sumner, DY, Sutter, B, and Zorzano, M-P
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MSL ,Mars ,SAM ,chlorobenzene ,organic molecules ,oxychlorine ,Astronomical and Space Sciences ,Geochemistry ,Geology - Abstract
The Sample Analysis at Mars (SAM) instrument on board the Mars Science Laboratory Curiosity rover is designed to conduct inorganic and organic chemical analyses of the atmosphere and the surface regolith and rocks to help evaluate the past and present habitability potential of Mars at Gale Crater. Central to this task is the development of an inventory of any organic molecules present to elucidate processes associated with their origin, diagenesis, concentration, and long-term preservation. This will guide the future search for biosignatures. Here we report the definitive identification of chlorobenzene (150-300 parts per billion by weight (ppbw)) and C2 to C4 dichloroalkanes (up to 70 ppbw) with the SAM gas chromatograph mass spectrometer (GCMS) and detection of chlorobenzene in the direct evolved gas analysis (EGA) mode, in multiple portions of the fines from the Cumberland drill hole in the Sheepbed mudstone at Yellowknife Bay. When combined with GCMS and EGA data from multiple scooped and drilled samples, blank runs, and supporting laboratory analog studies, the elevated levels of chlorobenzene and the dichloroalkanes cannot be solely explained by instrument background sources known to be present in SAM. We conclude that these chlorinated hydrocarbons are the reaction products of Martian chlorine and organic carbon derived from Martian sources (e.g., igneous, hydrothermal, atmospheric, or biological) or exogenous sources such as meteorites, comets, or interplanetary dust particles.Key pointsFirst in situ evidence of nonterrestrial organics in Martian surface sediments Chlorinated hydrocarbons identified in the Sheepbed mudstone by SAM Organics preserved in sample exposed to ionizing radiation and oxidative condition.
- Published
- 2015
3. Low copy numbers of complement C4 and C4A deficiency are risk factors for myositis, its subgroups and autoantibodies
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Zhou, D, King, EH, Rothwell, S, Krystufkova, O, Notarnicola, A, Coss, S, Abdul-Aziz, R, Miller, KE, Dang, A, Yu, GR, Drew, J, Lundström, E, Pachman, LM, Mamyrova, G, Curiel, RV, De Paepe, B, De Bleecker, JL, Payton, A, Ollier, W, O'Hanlon, TP, Targoff, IN, Flegel, WA, Sivaraman, V, Oberle, E, Akoghlanian, S, Driest, K, Spencer, CH, Wu, YL, Nagaraja, HN, Ardoin, SP, Chinoy, H, Rider, LG, Miller, FW, Lundberg, IE, Padyukov, L, Vencovský, J, Lamb, JA, Yu, CY, Zhou, D, King, EH, Rothwell, S, Krystufkova, O, Notarnicola, A, Coss, S, Abdul-Aziz, R, Miller, KE, Dang, A, Yu, GR, Drew, J, Lundström, E, Pachman, LM, Mamyrova, G, Curiel, RV, De Paepe, B, De Bleecker, JL, Payton, A, Ollier, W, O'Hanlon, TP, Targoff, IN, Flegel, WA, Sivaraman, V, Oberle, E, Akoghlanian, S, Driest, K, Spencer, CH, Wu, YL, Nagaraja, HN, Ardoin, SP, Chinoy, H, Rider, LG, Miller, FW, Lundberg, IE, Padyukov, L, Vencovský, J, Lamb, JA, and Yu, CY
- Abstract
Background Idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases characterised by myositis-related autoantibodies plus infiltration of leucocytes into muscles and/or the skin, leading to the destruction of blood vessels and muscle fibres, chronic weakness and fatigue. While complement-mediated destruction of capillary endothelia is implicated in paediatric and adult dermatomyositis, the complex diversity of complement C4 in IIM pathology was unknown. Methods We elucidated the gene copy number (GCN) variations of total C4, C4A and C4B, long and short genes in 1644 Caucasian patients with IIM, plus 3526 matched healthy controls using real-time PCR or Southern blot analyses. Plasma complement levels were determined by single radial immunodiffusion. Results The large study populations helped establish the distribution patterns of various C4 GCN groups. Low GCNs of C4T (C4T=2+3) and C4A deficiency (C4A=0+1) were strongly correlated with increased risk of IIM with OR equalled to 2.58 (2.28-2.91), p=5.0×10 -53 for C4T, and 2.82 (2.48-3.21), p=7.0×10 -57 for C4A deficiency. Contingency and regression analyses showed that among patients with C4A deficiency, the presence of HLA-DR3 became insignificant as a risk factor in IIM except for inclusion body myositis (IBM), by which 98.2% had HLA-DR3 with an OR of 11.02 (1.44-84.4). Intragroup analyses of patients with IIM for C4 protein levels and IIM-related autoantibodies showed that those with anti-Jo-1 or with anti-PM/Scl had significantly lower C4 plasma concentrations than those without these autoantibodies. Conclusions C4A deficiency is relevant in dermatomyositis, HLA-DRB1∗03 is important in IBM and both C4A deficiency and HLA-DRB1∗03 contribute interactively to risk of polymyositis.
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- 2023
4. A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer.
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Mayoh, C, Gifford, AJ, Terry, R, Lau, LMS, Wong, M, Rao, P, Shai-Hee, T, Saletta, F, Khuong-Quang, D-A, Qin, V, Mateos, MK, Meyran, D, Miller, KE, Yuksel, A, Mould, EVA, Bowen-James, R, Govender, D, Senapati, A, Zhukova, N, Omer, N, Dholaria, H, Alvaro, F, Tapp, H, Diamond, Y, Pozza, LD, Moore, AS, Nicholls, W, Gottardo, NG, McCowage, G, Hansford, JR, Khaw, S-L, Wood, PJ, Catchpoole, D, Cottrell, CE, Mardis, ER, Marshall, GM, Tyrrell, V, Haber, M, Ziegler, DS, Vittorio, O, Trapani, JA, Cowley, MJ, Neeson, PJ, Ekert, PG, Mayoh, C, Gifford, AJ, Terry, R, Lau, LMS, Wong, M, Rao, P, Shai-Hee, T, Saletta, F, Khuong-Quang, D-A, Qin, V, Mateos, MK, Meyran, D, Miller, KE, Yuksel, A, Mould, EVA, Bowen-James, R, Govender, D, Senapati, A, Zhukova, N, Omer, N, Dholaria, H, Alvaro, F, Tapp, H, Diamond, Y, Pozza, LD, Moore, AS, Nicholls, W, Gottardo, NG, McCowage, G, Hansford, JR, Khaw, S-L, Wood, PJ, Catchpoole, D, Cottrell, CE, Mardis, ER, Marshall, GM, Tyrrell, V, Haber, M, Ziegler, DS, Vittorio, O, Trapani, JA, Cowley, MJ, Neeson, PJ, and Ekert, PG
- Abstract
BACKGROUND: Molecular profiling of the tumour immune microenvironment (TIME) has enabled the rational choice of immunotherapies in some adult cancers. In contrast, the TIME of paediatric cancers is relatively unexplored. We speculated that a more refined appreciation of the TIME in childhood cancers, rather than a reliance on commonly used biomarkers such as tumour mutation burden (TMB), neoantigen load and PD-L1 expression, is an essential prerequisite for improved immunotherapies in childhood solid cancers. METHODS: We combined immunohistochemistry (IHC) with RNA sequencing and whole-genome sequencing across a diverse spectrum of high-risk paediatric cancers to develop an alternative, expression-based signature associated with CD8+ T-cell infiltration of the TIME. Furthermore, we explored transcriptional features of immune archetypes and T-cell receptor sequencing diversity, assessed the relationship between CD8+ and CD4+ abundance by IHC and deconvolution predictions and assessed the common adult biomarkers such as neoantigen load and TMB. RESULTS: A novel 15-gene immune signature, Immune Paediatric Signature Score (IPASS), was identified. Using this signature, we estimate up to 31% of high-risk cancers harbour infiltrating T-cells. In addition, we showed that PD-L1 protein expression is poorly correlated with PD-L1 RNA expression and TMB and neoantigen load are not predictive of T-cell infiltration in paediatrics. Furthermore, deconvolution algorithms are only weakly correlated with IHC measurements of T-cells. CONCLUSIONS: Our data provides new insights into the variable immune-suppressive mechanisms dampening responses in paediatric solid cancers. Effective immune-based interventions in high-risk paediatric cancer will require individualised analysis of the TIME.
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- 2023
5. Network science: Applications for sustainable agroecosystems and food security
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Windsor FM, Armenteras D, Assis APA, Astegiano J, Santana PC, Cagnolo L, Carvalheiro LG, Emary C, Fort H, Gonzalez XI, Kitson JJN, Lacerda ACF, Lois M, Márquez-Velásquez V, Miller KE, Monasterolo M, Omacini M, Maia KP, Palacios TP, Pocock MJO, Poggio SL, Varassin IG, Vázquez DP, Tavella J, Rother DC, Devoto M, Guimarães Jr PR, Evans DM
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- 2022
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6. Characterizing suitable habitat for the largest remaining population of the threatened Florida scrub-jay Aphelocoma coerulescens
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Miller, KE, primary and Shea, CP, additional
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- 2021
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7. Problems after flight: understanding and comparing Syrians' perspectives in the Middle East and Europe.
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Drescher, A, Kiselev, N, Akhtar, A, Acarturk, C, Bryant, RA, Ilkkursun, Z, von Känel, R, Miller, KE, Pfaltz, MC, Schick, M, Schnyder, U, Sijbrandij, M, Spaaij, J, Morina, N, Drescher, A, Kiselev, N, Akhtar, A, Acarturk, C, Bryant, RA, Ilkkursun, Z, von Känel, R, Miller, KE, Pfaltz, MC, Schick, M, Schnyder, U, Sijbrandij, M, Spaaij, J, and Morina, N
- Abstract
BACKGROUND: Syrian refugees and asylum seekers (SRAs) face multiple stressors after flight, which may vary due to different geographic, economic, cultural and socio-political contexts in the host countries. Past research has recognised the importance of participants' own perspectives. The aims of this multi-country study were to identify and compare self-reported problems of SRAs between various settings. METHODS: A semi-structured client-generated outcome measurement was used to collect data among adult SRAs in Jordan (N = 61), Turkey (N = 46) and Switzerland (N = 57) between September 2018 and November 2019. Answers were analysed following thematic analysis. RESULTS: Over half of the participants reported practical problems with an emphasis on camp-related problems (Jordan), finances (Turkey), employment (Jordan and Switzerland) and government regulations (Switzerland), followed by psychological, and social issues. CONCLUSION: This study highlights the impact of local contextual factors on wellbeing. The findings emphasise that planning preventative procedures and mental health care services for SRAs need to consider local challenges affecting the population in specific countries.
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- 2021
8. AMBITION -- Comet nucleus cryogenic sample return (white paper for ESA's voyage 2050 programme)
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Bockelée-Morvan, D, Filacchione, G, Altwegg, K, Bianchi, E, Bizzarro, M, Blum, J, Bonal, L, Capaccioni, F, Codella, C, Choukroun, M, Cottin, H, Davidsson, B, Sanctis, MCD, Drozdovskaya, M, Engrand, C, Galand, M, Güttler, C, Henri, P, Herique, A, Ivanoski, S, Kokotanekova, R, Levasseur-Regourd, A-C, Miller, KE, Rotundi, A, Schönbächler, M, Snodgrass, C, Thomas, N, Tubiana, C, Ulamec, S, Vincent, J-B, Science and Technology Facilities Council (STFC), and European Space Agency / Estec
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astro-ph.EP ,astro-ph.IM - Abstract
This white paper proposes that AMBITION, a Comet Nucleus Sample Return mission, be a cornerstone of ESA's Voyage 2050 programme. We summarise some of the most important questions still open in cometary science after the successes of the Rosetta mission, many of which require sample analysis using techniques that are only possible in laboratories on Earth. We then summarise measurements, instrumentation and mission scenarios that can address these questions, with a recommendation that ESA select an ambitious cryogenic sample return mission. Rendezvous missions to Main Belt comets and Centaurs are compelling cases for M-class missions, expanding our knowledge by exploring new classes of comets. AMBITION would engage a wide community, drawing expertise from a vast range of disciplines within planetary science and astrophysics. With AMBITION, Europe will continue its leadership in the exploration of the most primitive Solar System bodies.
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- 2019
9. 0356 CLINICIAN PERCEPTIONS RELATED TO THE USE OF CBT-I COACH MOBILE APP
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Miller, KE, primary, Kuhn, E, additional, Weiss, B, additional, Owen, J, additional, Crowley, JJ, additional, Yu, J, additional, Taylor, KL, additional, and Trockel, M, additional
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- 2017
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10. Harnessing the World Wild Web
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Buckner Eb and Lishner Miller Ke
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Information Services ,Internet ,Communication ,Interprofessional Relations ,LPN and LVN ,United States ,Education ,World Wide Web ,Review and Exam Preparation ,Camping ,Humans ,Nursing Staff ,Fundamentals and skills ,Sociology ,Specialties, Nursing - Published
- 2002
11. Participation in college sports and protection from sexual victimization
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Fasting, K, Brackenridge, CH, Miller, KE, Sabo, D, and Leahy, T
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education ,sexual victimisation, college, sport - Abstract
Some sociologists have argued that sport is a male-dominated institution and sexist culture in which female athletes experience various forms of discrimination, including sexual harassment from coaches and male athletes. Some research does indicate that female athletes suffer higher rates of sexual victimization from authority figures in sport than their nonathletic counterparts in education and the workplace. In contrast, researchers have also speculated that athletic participation can protect female athletes from sexual victimization through a variety of social-psychological mechanisms such as team membership, physical strength, and self-confidence. This paper reports on the first descriptive analysis to test the “sport protection hypothesis” among both female and male athletes, using cross-tabulation secondary analyses of data from the National College Health Risk Behavior Survey, conducted in 1995 by the U.S. Centers for Disease Control and Prevention (N=4814). USA college students of traditional undergraduate age (aged 18-24) were included in the sample (N=2903). Some limited support for the protection hypothesis was found, and student athletes were significantly less likely to report sexual victimization during their late high school and early college years than their nonathletic counterparts. A gender gap in the pattern of sexual victimization also appeared between males and females across all student age groups, with females experiencing more sexual victimization than males. However, no significant gender gap was found among athletes. The results are discussed in relation to previous studies of campus athletes and to college prevention policy.
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- 2008
12. Energy intake, energy expenditure, and reproductive costs of female wild golden lion tamarins (Leontopithecus rosalia)
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Miller, KE, Bales, KL, Ramos, JH, and Dietz, JM
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Callitrichid females are often described as energetically constrained. We examined the energy budgets of 10 female wild golden lion tamarins (GLTs, Leontopithecus rosalia) in an effort to understand how energy intake and expenditure might influence physical condition and therefore reproductive performance. We used focal animal sampling to record behavioral data and conducted energy analyses of foods consumed by GLTs to estimate intake and expenditure. We used two-tailed Wilcoxon signed-rank tests to compare intake in the reproductive vs. nonreproductive period and expenditure in the reproductive vs. nonreproductive period. Energy intake decreased during the reproductive period compared to the nonreproductive period. While total expenditure did not vary significantly across the two periods, females spent more time and therefore expended significantly more energy engaged in energetically inexpensive behaviors (i.e., sleeping or being stationary) during the reproductive period compared to the nonreproductive period. We suggest that reproductive female GLTs may adopt a reproductive strategy that includes high intake prior to pregnancy and lactation, and energy conservation during pregnancy and lactation. © 2006 Wiley-Liss, Inc.
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- 2006
13. PROPENSITY TO SHOP: IDENTIFYING WHO SHOPS TIL THEY DROP
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Kattiyapornpong, U, Miller, KE, Kattiyapornpong, U, and Miller, KE
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- 2012
14. Social Structure and Psychographic Explanations of Destination Preference of Australians' Travel to South-East Asia
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Kattiyapornpong, U, Miller, KE, Kattiyapornpong, U, and Miller, KE
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- 2011
15. B2B services: linking service loyalty and brand equity
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Rauyruen, P, Miller, KE, Groth, M, Rauyruen, P, Miller, KE, and Groth, M
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- 2009
16. When consumers and brands talk: Storytelling theory and research in psychology and marketing
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Woodside, AG, Sood, S, Miller, KE, Woodside, AG, Sood, S, and Miller, KE
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Storytelling is pervasive through life. Much information is stored, indexed, and retrieved in the form of stories. Although lectures tend to put people to sleep, stories move them to action. People relate to each other in terms of stories - and products and brands often play both central and peripheral roles in their stories. To aid storytelling research in consumer psychology, this article develops a narrative theory that describes how consumers use brands as props or anthropomorphic actors in stories they report about themselves and others. Such drama enactments enable these storytellers to experience powerful myths that reflect psychological archetypes. The article includes findings from case study research that probes propositions of the theory. Implications for consumer psychology and marketing practice follow the discussion of the findings. © 2008 Wiley Periodicals, Inc.
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- 2008
17. Relationship quality as a predictor of B2B customer loyalty
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Rauyruen, P, Miller, KE, Rauyruen, P, and Miller, KE
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This study aims to provide a picture of how relationship quality can influence customer loyalty in the business-to-business (B2B) context. Building on prior research, we propose relationship quality as a higher construct comprising trust, commitment, satisfaction and service quality. We believe that these dimensions of relationship quality can reasonably explain the influence of overall relationship quality on customer loyalty. In addition, this study provides more insightful explanations of the influence of relationship quality on customer loyalty through two levels of relationship quality: relationship quality with employees of the supplier and relationship quality with the supplier itself as a whole. Aiming to fully explain the concept of customer loyalty, we follow the composite loyalty approach providing both behavioral aspects (purchase intentions) and attitudinal loyalty. We seek to address three main research issues: Does relationship quality influence both aspects of customer loyalty? If so, which relationship quality dimensions influence each of the components of customer loyalty? And which level of relationship quality (employee level versus organizational level) has more influence on customer loyalty? This study uses the courier delivery service context in Australia and targets Australian Small to Medium Enterprises (SMEs). We selected mail survey and online survey as the two methods of data collection, and together they received 306 usable respondents. Structural equation modeling yields insights into the influence of the dimensions and levels of relationship quality on customer loyalty. Results show that all four dimensions of relationship quality influence attitudinal loyalty, however, only satisfaction and perceived service quality influence behavioral loyalty (purchase intentions). Most remarkably, results indicate that only the organizational level of relationship quality influences customer loyalty. The employee level of relationship quality does
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- 2007
18. Internet users' attitude and behavioural intention on ebranding
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Lee, K, Miller, KE, Lee, K, and Miller, KE
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The purpose of this paper is to empirically examine the effect of internet users' general attitude towards internet advertising and level of product involvement on their attitudes and behaviour. In this study, three banner advertisements and corporate websites of varying creative content and message appeal were used. Data was gathered through an online survey with a sample size of 245 respondents. The Covariance Structural Modelling results show that general attitude towards internet advertising and level of product involvement has a positive impact on users' attitudes (site and brand) and behavioural intention. The results show that the extent to which users perceive a corporate website is customised from information derived from their individual-level differences and is influenced by their general attitude towards internet advertising and level of involvement. Copyright © 2006 Inderscience Enterprises Ltd.
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- 2006
19. Attitudes towards DTC advertising in Australia: an exploratory study
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Miller, KE, Waller, DS, Miller, KE, and Waller, DS
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In Australia direct-to-consumer (DTC) advertising of prescription medicines is currently not permitted. Despite a government report that did not recommend a change, pharmaceutical companies have continued a campaign for the ban to be lifted, resulting in strong opposition by doctors and consumer groups. This exploratory study aims to discover the attitudes of a sample of Australians towards the advertising of prescription medicines before any possible (or probable) changes takes place. A survey of 619 people was undertaken and four factors were discovered: (I) information; (II) quality; (III) credibility; and (IV) price. Comparisons were also made to determine whether there were any differences in attitudes based on gender or age. From these results some issues relating to DTC advertising will be discussed. © 2004, Advertising Association.
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- 2004
20. Maternal play behaviors, child negativity, and preterm or low birthweight toddlers' visual-spatial outcomes: testing a differential susceptibility hypothesis.
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Dilworth-Bart JE, Miller KE, Hane A, Dilworth-Bart, Janean E, Miller, Kyle E, and Hane, Amanda
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Objective: We examined the joint roles of child negative emotionality and parenting in the visual-spatial development of toddlers born preterm or with low birthweights (PTLBW).Method: Neonatal risk data were collected at hospital discharge, observer- and parent-rated child negative emotionality was assessed at 9-months postterm, and mother-initiated task changes and flexibility during play were observed during a dyadic play interaction at 16-months postterm. Abbreviated IQ scores, and verbal/nonverbal and visual-spatial processing data were collected at 24-months postterm.Results: Hierarchical regression analyses did not support our hypothesis that the visual-spatial processing of PTLBW toddlers with higher negative emotionality would be differentially susceptible to parenting behaviors during play. Instead, observer-rated distress and a negativity composite score were associated with less optimal visual-spatial processing when mothers were more flexible during the 16-month play interaction. Mother-initiated task changes did not interact with any of the negative emotionality variables to predict any of the 24-month neurocognitive outcomes, nor did maternal flexibility interact with mother-rated difficult temperament to predict the visual-spatial processing outcomes. [ABSTRACT FROM AUTHOR]- Published
- 2012
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21. Do mothers' play behaviors moderate the associations between socioeconomic status and 24-month neurocognitive outcomes of toddlers born preterm or with low birth weight?
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Dilworth-Bart JE, Poehlmann JA, Miller KE, Hilgendorf AE, Dilworth-Bart, Janean E, Poehlmann, Julie A, Miller, Kyle E, and Hilgendorf, Amy E
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Objective: We examined whether neonatal risks and maternal scaffolding (i.e., task changes and flexibility) during a 16-month post-term play interaction moderated the association between socioeconomic status (SES), visual-spatial processing and emerging working memory assessed at 24 months post-term among 75 toddlers born preterm or low birth weight.Method: SES and neonatal risk data were collected at hospital discharge and mother-child play interactions were observed at 16-month post-term. General cognitive abilities, verbal/nonverbal working memory and visual-spatial processing data were collected at 24 months.Results: Neonatal risks did not moderate the associations between SES and 24-month outcomes. However, lower mother-initiated task changes were related to better 24-month visual-spatial processing among children living in higher SES homes. Mothers' flexible responses to child initiated task changes similarly moderated the impact of SES on 24-month visual-spatial processing.Conclusion: Our results suggest that mothers' play behaviors differentially relate to child outcomes depending on household SES. [ABSTRACT FROM AUTHOR]- Published
- 2011
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22. Growing pains: the impact of disaster-related and daily stressors on the psychological and psychosocial functioning of youth in Srilanka.
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Fernando GA, Miller KE, and Berger DE
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- 2010
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23. Daily stressors, war experiences, and mental health in Afghanistan.
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Miller KE, Omidian P, Rasmussen A, Yaqubi A, and Daudzai H
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Working in Afghanistan's capital city of Kabul, the authors assessed the relative contribution of daily stressors and war-related experiences of violence and loss to levels of depression, PTSD, impaired functioning, and a culturally specific measure of general psychological distress. For women, daily stressors were a better predictor than war experiences of all mental health outcomes except for PTSD; for men, daily stressors were a better predictor of depression and functional impairment, while war experiences and daily stressors were similarly predictive of general distress. For men, daily stressors moderated the relationship between war experiences and PTSD, which was significant only under conditions of low daily stress. The study's implications for research and intervention in conflict and post-conflict settings are considered. [ABSTRACT FROM AUTHOR]
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- 2008
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24. Participation in college sports and protection from sexual victimization.
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Fasting K, Brackenridge CH, Miller KE, and Sabo D
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- 2008
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25. Pharmacologic management of adult depression.
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Adams SM, Miller KE, and Zylstra RG
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Major depression is a common and treatable disease. Many patients benefit from pharmacologic treatment and, because there is little variation in antidepressant effectiveness, medication choices should be made based on patient characteristics, safety, and anticipated side effects. Most patients respond favorably to treatment, but many do not have complete symptom relief. Changing medications or augmenting with a second medication is helpful for some partial or non-responders. All antidepressants are capable of producing harmful side effects, and some are particularly prone to dangerous drug-drug interactions. The risk of suicide is always a concern in depression and this risk is not necessarily reduced by the use of antidepressants. Some persons may have an increase in suicidal thoughts with antidepressant treatment. Close follow-up is required when initiating therapy and adjusting dosages. [ABSTRACT FROM AUTHOR]
- Published
- 2008
26. Tips from other journals.
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Wellbery C, Miller KE, and Walling AD
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- 2007
27. Tips from other journals.
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Miller KE, Walling AD, Lin KW, Wellbery C, and Moon KT
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- 2007
28. POEMs & tips from other journals. Tips.
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Miller KE, Wellbery C, Carter C, Walling AD, Lin KW, and Ebell M
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- 2006
29. POEMs and tips from other journals: tips.
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Walling AD, Lin KW, Wellberry C, Miller KE, and Ebell MH
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- 2006
30. POEMs & tips: from other journals.
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Ebell M, Shaughnessy AF, Slawson D, Walling AD, Giordano J, Miller KE, and Lin KW
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- 2006
31. POEMs & tips from other journals. Tips.
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Lin KW, Wellbery C, Walling AD, Carter C, and Miller KE
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- 2006
32. Diagnosis and treatment of Neisseria gonorrhoeae infections.
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Miller KE
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The most common site of Neisseria gonorrhoeae infection is the urogenital tract. Men with this infection may experience dysuria with penile discharge, and women may have mild vaginal mucopurulent discharge, severe pelvic pain, or no symptoms. Other N. gonorrhoeae infections include anorectal, conjunctival, pharyngeal, and ovarian/uterine. Infections that occur in the neonatal period may cause ophthalmia neonatorum. If left untreated, N. gonorrhoeae infections can disseminate to other areas of the body, which commonly causes synovium and skin infections. Disseminated gonococcal infection presents as a few skin lesions that are limited to the extremities. These legions start as papules and progress into bullae, petechiae, and necrotic lesions. The most commonly infected joints include wrists, ankles, and the joints of the hands and feet. Urogenital N. gonorrhoeae infections can be diagnosed using culture or nonculture (e.g., the nucleic acid amplification test) techniques. When multiple sites are potentially infected, culture is the only approved diagnostic test. Treatments for uncomplicated urogenital, anorectal, or pharyngeal gonococcal infections include cephalosporins and fluoroquinolones. Fluoroquinolones should not be used in patients who live in or may have contracted gonorrhea in Asia, the Pacific islands, or California, or in men who have sex with men. Gonorrhea infection should prompt physicians to test for other sexually transmitted diseases, including human immunodeficiency virus. [ABSTRACT FROM AUTHOR]
- Published
- 2006
33. Diagnosis and treatment of Chlamydia trachomatis infection.
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Miller KE
- Abstract
Chlamydia trachomatis infection most commonly affects the urogenital tract. In men, the infection usually is symptomatic, with dysuria and a discharge from the penis. Untreated chlamydial infection in men can spread to the epididymis. Most women with chlamydial infection have minimal or no symptoms, but some develop pelvic inflammatory disease. Chlamydial infection in newborns can cause ophthalmia neonatorum. Chlamydial pneumonia can occur at one to three months of age, manifesting as a protracted onset of staccato cough, usually without wheezing or fever. Treatment options for uncomplicated urogenital infections include a single 1-g dose of azithromycin orally, or doxycycline at a dosage of 100 mg orally twice per day for seven days. The recommended treatment during pregnancy is erythromycin base or amoxicillin. The Centers for Disease Control and Prevention and the U.S. Preventive Services Task Force recommend screening for chlamydial infection in women at increased risk of infection and in all women younger than 25 years. [ABSTRACT FROM AUTHOR]
- Published
- 2006
34. Palliative oncology update. Antidepressant medication use in palliative care.
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Miller KE, Adams SM, and Miller MM
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Depression and other mood disorders occur in approximately 25 percent of terminal patients. Untreated, depression and mood disorders can have a significantly negative impact on patients and families. Screening for depression can be done as easily as asking one question: 'are you depressed?' A positive response to this question can be followed with one of the more extensive screening tools. Anxiety disorders can also have a negative effect on patients and their families. These can be identified by also using one of the validated screening tools. Use of the antidepressant medications for treating depression and, in some cases, anxiety disorders has not been well studied in hospice and palliative care. Some of the antidepressants can also serve as adjuvant therapy in pain management. [ABSTRACT FROM AUTHOR]
- Published
- 2006
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35. POEMs & tips from other journals.
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Barry H, Shaugnessy AF, Lin K, Wellbery C, Miller KE, and Walling AD
- Published
- 2006
36. Update on the prevention and treatment of sexually transmitted diseases.
- Author
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Miller KE, Ruiz DE, and Graves JC
- Abstract
The Centers for Disease Control and Prevention (CDC) recently published updated guidelines that provide new strategies for the prevention and treatment of sexually transmitted diseases (STDs). Patient education is the first important step in reducing the number of persons who engage in risky sexual behaviors. Information on STD prevention should be individualized on the basis of the patient's stage of development and understanding of sexual issues. Other preventive strategies include administering the hepatitis B vaccine series to unimmunized patients who present for STD evaluation and administering hepatitis A vaccine to illegal drug users and men who have sex with men. The CDC recommends against using any form of nonoxynol 9 for STD prevention. New treatment strategies include avoiding the use of quinolone therapy in patients who contract gonorrhea in California or Hawaii. Testing for cure is not necessary if chlamydial infection is treated with a first-line antibiotic (azithromycin or doxycycline). However, all women should be retested three to four months after treatment for chlamydial infection, because of the high incidence of reinfection. Testing for herpes simplex virus serotype is advised in patients with genital infection, because recurrent infection is less likely with the type 1 serotype than with the type 2 serotype. The CDC guidelines also include new information on the treatment of diseases characterized by vaginal discharge. [ABSTRACT FROM AUTHOR]
- Published
- 2003
37. Maternal serum triple analyte screening in pregnancy.
- Author
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Graves JC, Miller KE, and Sellers AD
- Abstract
According to the American College of Obstetricians and Gynecologists, it has become standard in prenatal care to offer screening tests for neural tube defects and genetic abnormalities. There have been some changes in the recommended method of prenatal screening over the past few years, and research to improve detection rates with better combinations of maternal serum analytes is ongoing. The issues facing physicians are the sensitivity and specificity of multiple serum analyte combinations. The current maternal serum analytes in use in most areas are alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol. Measurement of AFP alone can detect the vast majority of neural tube defects and a small portion of trisomy 21-affected pregnancies in patients of all ages. Adding hCG and unconjugated estriol to this screen increases the rate of detection of trisomies 21 and 18. Counseling patients about the risks and benefits of such screening is important to provide a balanced discussion of screening issues. [ABSTRACT FROM AUTHOR]
- Published
- 2002
38. Tobacco use among high school athletes and nonathletes: results of the 1997 Youth Risk Behavior Survey.
- Author
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Melnick MJ, Miller KE, Sabo DF, Farrell MP, and Barnes GM
- Abstract
In the United States today, the use of tobacco has become an entrenched part of teenage culture. The present study used the 1997 Youth Risk Behavior Survey (YRBS), which collected data from a nationally representative sample of 16,262 students in public and private high schools, to compare the tobacco use patterns of athletes and nonathletes. The independent variable, athletic participation, differentiated between moderately involved (1 or 2 teams) and highly involved (3 or more teams) athletes. Frequency of cigarette and cigar smoking and smokeless tobacco use served as the operational measure of tobacco use. Age, race/ethnicity, parental education, and residence were controlled. Logistic regression was used to calculate odds ratios for female and male athletes and nonathletes for each of the tobacco use variables. It was found that both male and female athletes were less likely to have ever smoked regularly, the effect being stronger for more highly involved athletes of both genders. Cigar smoking was unrelated to athlete status. Both female and male athletes were more likely to have used smokeless tobacco, the effect being stronger for more highly involved athletes of both genders. The findings are discussed in terms of access to health information, performance considerations, social status factors, the salience of an athletic identity, and the influence of the athletic subculture on its members. [ABSTRACT FROM AUTHOR]
- Published
- 2001
39. Update on the prevention and treatment of sexually transmitted diseases.
- Author
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Miller KE and Graves JC
- Abstract
The Centers for Disease Control and Prevention updated its guidelines for the treatment of sexually transmitted diseases. The guidelines include the following information: recommendations for hepatitis A immunization and expanded indications for hepatitis B vaccination; updated diagnostic criteria for pelvic inflammatory disease and parenteral treatment regimens; information on two additional antiviral agents for the treatment of genital herpes; a recommendation for use of a single 1-g dose of azithromycin (Zithromax) to treat urethritis and chlamydial cervicitis; information on the use of quinolones in the treatment of gonococcal infections; information on podofilox and imiquimod, which are both patient-applied medications, in the treatment of noncervical human papillomavirus infection; updated guidelines for the prevention and detection of congenital syphilis; and information on how to prevent the spread of sexually transmitted diseases by educating patients about the importance of changing their sexual behaviors. To have a significant impact on the current rate of transmission of sexually transmitted diseases, family physicians should develop a plan to integrate the guidelines into their practices. [ABSTRACT FROM AUTHOR]
- Published
- 2000
40. Outpatient detoxification of the addicted or alcoholic patient.
- Author
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Prater CD, Miller KE, and Zylstra RG
- Abstract
Outpatient detoxification of patients with alcohol or other drug addiction is being increasingly undertaken. This type of management is appropriate for patients in stage I or stage II of withdrawal who have no significant comorbid conditions and have a support person willing to monitor their progress. Adequate dosages of appropriate substitute medications are important for successful detoxification. In addition, comorbid psychiatric, personality and medical disorders must be managed, and social and environmental concerns need to be addressed. By providing supportive, nonjudgmental, yet assertive care, the family physician can facilitate the best possible chance for a patient's successful recovery. [ABSTRACT FROM AUTHOR]
- Published
- 1999
41. Barriers to hospice care: family physicians' perceptions.
- Author
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Miller KE, Miller MM, and Single N
- Abstract
The purpose of this study was to examine barriers family physicians face when providing hospice care. A questionnaire was developed by the authors, and was mailed to 1,013 randomly selected AAFP members. The questionnaire addressed the various hospice care barriers. The respondents felt comfortable with hospice care, but felt that they did not receive adequate education in this area. They stated that they do have access to hospice programs. There is a general belief on the part of the respondents that their education in death and dying issues, and in hospice care was inadequate. The respondents, however, did feel comfortable in providing hospice care. [ABSTRACT FROM AUTHOR]
- Published
- 1997
- Full Text
- View/download PDF
42. Paralabral rupture of the proximal biceps tendon from light weightlifting.
- Author
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Miller KE, Solomon DJ, Miller, Kyle E, and Solomon, Daniel J
- Abstract
Rupture of the long head of the biceps is usually seen in older adults, in conjunction with rotator cuff tears or tenosynovitis secondary to chronic subacromial impingement; it is rarely seen as a result of trauma. We present the case of a young active patient who denied prodromal symptoms but ruptured the long head of the biceps brachii tendon (LHB) while performing 25-pound biceps curls. Upon examination, the patient was noted to have a readily apparent biceps defect and decreased strength. He was brought to the operating room, where open subpectoral tenodesis of the LHB was performed. At the 6-week follow-up evaluation, the patient had regained full range of motion. By 6 months, he had regained his previous strength. This case demonstrates an unusual presentation of a LHB rupture in a young healthy man with no prodromal symptoms. [ABSTRACT FROM AUTHOR]
- Published
- 2008
- Full Text
- View/download PDF
43. Tips from other journals.
- Author
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Walling AD, Wellbery C, and Miller KE
- Published
- 2007
44. FGFR-1 amplification in metastatic lymph-nodal and haematogenous lobular breast carcinoma
- Author
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Brunello Eleonora, Brunelli Matteo, Bogina Giuseppe, Caliò Anna, Manfrin Erminia, Nottegar Alessia, Vergine Marco, Molino Annamaria, Bria Emilio, Massari Francesco, Tortora Giampaolo, Cingarlini Sara, Pedron Serena, Chilosi Marco, Zamboni Giuseppe, Miller Keith, Martignoni Guido, and Bonetti Franco
- Subjects
Lobular breast carcinoma ,Metastases ,FGFR-1 amplification ,In situ hybridization ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Abstract Background Lobular breast carcinoma usually shows poor responsiveness to chemotherapies and often lacks targeted therapies. Since FGFR1 expression has been shown to play pivotal roles in primary breast cancer tumorigenesis, we sought to analyze the status of FGFR1 gene in a metastatic setting of lobular breast carcinoma, since promising FGFR1 inhibitors has been recently developed. Methods Fifteen tissue metastases from lobular breast carcinomas with matched primary infiltrative lobular breast carcinoma were recruited. Eleven cases showed loco-regional lymph-nodal and four haematogenous metastases. FGFR-1 gene (8p12) amplification was evaluated by chromogenic in situ hybridization (CISH) analysis. Her-2/neu and topoisomerase-IIα gene status was assessed. E-cadherin and Hercept Test were also performed. We distinguished amplification (>6 or cluster of signals) versus gains (3–6 signals) of the locus specific FGFR-1 gene. Results Three (20%) primary lobular breast carcinomas showed >6 or cluster of FGFR1 signals (amplification), six cases (40%) had a mean of three (range 3–6) chromogenic signals (gains) whereas in 6 (40%) was not observed any abnormality. Three of 15 metastasis (20%) were amplified, 2/15 (13,4%) did not. The ten remaining cases (66,6%) showed three chromogenic signals. The three cases with FGFR-1 amplification matched with those primary breast carcinomas showing FGFR-1 amplification. The six cases showing FGFR-1 gains in the primary tumour again showed FGFR-1 gains in the metastases. Four cases showed gains of FGFR-1 gene signals in the metastases and not in the primary tumours. Her-2/neu gene amplification was not observed in all cases but one (6%) case. Topoisomerase-IIα was not amplified in all cases. Conclusions 1) a subset of metastatic lobular breast carcinoma harbors FGFR-1 gene amplification or gains of chromogenic signals; 2) a minor heterogeneity has been observed after matching primary and metastatic carcinomas; 3) in the era of tailored therapies, patients affected by the lobular subtype of breast carcinoma with FGFR1 amplification could be approached to the new target biological therapy such as emerging FGFR-1 inhibitors.
- Published
- 2012
- Full Text
- View/download PDF
45. Carbon storage of headwater riparian zones in an agricultural landscape
- Author
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Rheinhardt Richard D, Brinson Mark M, Meyer Gregory F, and Miller Kevin H
- Subjects
carbon storage capacity ,condition ,riparian buffer ,Environmental sciences ,GE1-350 - Abstract
Abstract Background In agricultural regions, streamside forests have been reduced in age and extent, or removed entirely to maximize arable cropland. Restoring and reforesting such riparian zones to mature forest, particularly along headwater streams (which constitute 90% of stream network length) would both increase carbon storage and improve water quality. Age and management-related cover/condition classes of headwater stream networks can be used to rapidly inventory carbon storage and sequestration potential if carbon storage capacity of conditions classes and their relative distribution on the landscape are known. Results Based on the distribution of riparian zone cover/condition classes in sampled headwater reaches, current and potential carbon storage was extrapolated to the remainder of the North Carolina Coastal Plain stream network. Carbon stored in headwater riparian reaches is only about 40% of its potential capacity, based on 242 MgC/ha stored in sampled mature riparian forest (forest > 50 y old). The carbon deficit along 57,700 km headwater Coastal Plain streams is equivalent to about 25TgC in 30-m-wide riparian buffer zones and 50 TgC in 60-m-wide buffer zones. Conclusions Estimating carbon storage in recognizable age-and cover-related condition classes provides a rapid way to better inventory current carbon storage, estimate storage capacity, and calculate the potential for additional storage. In light of the particular importance of buffer zones in headwater reaches in agricultural landscapes in ameliorating nutrient and sediment input to streams, encouraging the restoration of riparian zones to mature forest along headwater reaches worldwide has the potential to not only improve water quality, but also simultaneously reduce atmospheric CO2.
- Published
- 2012
- Full Text
- View/download PDF
46. Impact of fermentation, drying, roasting and Dutch processing on flavan-3-ol stereochemistry in cacao beans and cocoa ingredients
- Author
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Miller Kenneth B, Payne Mark J, Bergmeier Stephen C, Krake Susann H, Hurst W Jeffrey, and Stuart David A
- Subjects
Chemistry ,QD1-999 - Abstract
Abstract This paper reports a systematic study of the level of flavan-3-ol monomers during typical processing steps as cacao beans are dried, fermented and roasted and the results of Dutch-processing. Methods have been used that resolve the stereoisomers of epicatechin and catechin. In beans harvested from unripe and ripe cacao pods, we find only (-)-epicatechin and (+)-catechin with (-)-epicatechin being by far the predominant isomer. When beans are fermented there is a large loss of both (-)-epicatechin and (+)-catechin, but also the formation of (-)-catechin. We hypothesize that the heat of fermentation may, in part, be responsible for the formation of this enantiomer. When beans are progressively roasted at conditions described as low, medium and high roast conditions, there is a progressive loss of (-)-epicatechin and (+)-catechin and an increase in (-)-catechin with the higher roast levels. When natural and Dutch-processed cacao powders are analyzed, there is progressive loss of both (-)-epicatechin and (+)-catechin with lesser losses of (-)-catechin. We thus observe that in even lightly Dutch-processed powder, the level of (-)-catechin exceeds the level of (-)-epicatechin. The results indicate that much of the increase in the level of (-)-catechin observed during various processing steps may be the result of heat-related epimerization from (-)-epicatechin. These results are discussed with reference to the reported preferred order of absorption of (-)-epicatechin > (+)-catechin > (-)-catechin. These results are also discussed with respect to the balance that must be struck between the beneficial impact of fermentation and roasting on chocolate flavor and the healthful benefits of chocolate and cocoa powder that result in part from the flavan-3-ol monomers.
- Published
- 2011
- Full Text
- View/download PDF
47. The role of dietary fatty acids in predicting myocardial structure in fat-fed rats
- Author
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Miller Melissa L, Falcone Paul H, Mulligan Christopher M, Chapman Phillip L, Chicco Adam J, Miller Kelsey E, Jeckel Kimberly M, Pagliassotti Michael J, and Frye Melinda A
- Subjects
Obesity ,Cardiomyopathy ,Polyunsaturated fatty acids ,Left ventricular hypertrophy ,Nutritional diseases. Deficiency diseases ,RC620-627 - Abstract
Abstract Background Obesity increases the risk for development of cardiomyopathy in the absence of hypertension, diabetes or myocardial ischemia. Not all obese individuals, however, progress to heart failure. Indeed, obesity may provide protection from cardiovascular mortality in some populations. The fatty acid milieu, modulated by diet, may modify obesity-induced myocardial structure and function, lending partial explanation for the array of cardiomyopathic phenotypy in obese individuals. Methods Adult male Sprague-Dawley rats were fed 1 of the following 4 diets for 32 weeks: control (CON); 50% saturated fat (SAT); 40% saturated fat + 10% linoleic acid (SAT+LA); 40% saturated fat + 10% α-linolenic acid (SAT+ALA). Serum leptin, insulin, glucose, free fatty acids and triglycerides were quantitated. In vivo cardiovascular outcomes included blood pressure, heart rate and echocardiographic measurements of structure and function. The rats were sacrificed and myocardium was processed for fatty acid analysis (TLC-GC), and evaluation of potential modifiers of myocardial structure including collagen (Masson's trichrome, hydroxyproline quantitation), lipid (Oil Red O, triglyceride quantitation) and myocyte cross sectional area. Results Rats fed SAT+LA and SAT+ALA diets had greater cranial LV wall thickness compared to rats fed CON and SAT diets, in the absence of hypertension or apparent insulin resistance. Treatment was not associated with changes in myocardial function. Myocardial collagen and triglycerides were similar among treatment groups; however, rats fed the high-fat diets, regardless of composition, demonstrated increased myocyte cross sectional area. Conclusions Under conditions of high-fat feeding, replacement of 10% saturated fat with either LA or ALA is associated with thickening of the cranial LV wall, but without concomitant functional changes. Increased myocyte size appears to be a more likely contributor to early LV thickening in response to high-fat feeding. These findings suggest that myocyte hypertrophy may be an early change leading to gross LV hypertrophy in the hearts of "healthy" obese rats, in the absence of hypertension, diabetes and myocardial ischemia.
- Published
- 2011
- Full Text
- View/download PDF
48. Information from your family doctor. Gonorrhea: what you should know.
- Author
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Miller KE
- Published
- 2006
49. Multiomic profiling identifies predictors of survival in African American patients with acute myeloid leukemia.
- Author
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Stiff A, Fornerod M, Kain BN, Nicolet D, Kelly BJ, Miller KE, Mrózek K, Boateng I, Bollas A, Garfinkle EAR, Momoh O, Fasola FA, Olawumi HO, Mencia-Trinchant N, Kloppers JF, van Marle AC, Hu E, Wijeratne S, Wheeler G, Walker CJ, Buss J, Heyrosa A, Desai H, Laganson A, Hamp E, Abu-Shihab Y, Abaza H, Kronen P, Sen S, Johnstone ME, Quinn K, Wronowski B, Hertlein E, Miles LA, Mims AS, Oakes CC, Blachly JS, Larkin KT, Mundy-Bosse B, Carroll AJ, Powell BL, Kolitz JE, Stone RM, Duarte C, Abbott D, Amaya ML, Jordan CT, Uy GL, Stock W, Archer KJ, Paskett ED, Guzman ML, Levine RL, Menghrajani K, Chakravarty D, Berger MF, Bottomly D, McWeeney SK, Tyner JW, Byrd JC, Salomonis N, Grimes HL, Mardis ER, and Eisfeld AK
- Subjects
- Humans, Male, Female, Middle Aged, Prognosis, White People genetics, Nuclear Proteins genetics, Adult, Aged, Transcriptome, Isocitrate Dehydrogenase genetics, GTP Phosphohydrolases genetics, Biomarkers, Tumor genetics, Membrane Proteins genetics, Gene Expression Profiling, Leukemia, Myeloid, Acute genetics, Leukemia, Myeloid, Acute mortality, Nucleophosmin, Black or African American genetics, Mutation
- Abstract
Genomic profiles and prognostic biomarkers in patients with acute myeloid leukemia (AML) from ancestry-diverse populations are underexplored. We analyzed the exomes and transcriptomes of 100 patients with AML with genomically confirmed African ancestry (Black; Alliance) and compared their somatic mutation frequencies with those of 323 self-reported white patients with AML, 55% of whom had genomically confirmed European ancestry (white; BeatAML). Here we find that 73% of 162 gene mutations recurrent in Black patients, including a hitherto unreported PHIP alteration detected in 7% of patients, were found in one white patient or not detected. Black patients with myelodysplasia-related AML were younger than white patients suggesting intrinsic and/or extrinsic dysplasia-causing stressors. On multivariable analyses of Black patients, NPM1 and NRAS mutations were associated with inferior disease-free and IDH1 and IDH2 mutations with reduced overall survival. Inflammatory profiles, cell type distributions and transcriptional profiles differed between Black and white patients with NPM1 mutations. Incorporation of ancestry-specific risk markers into the 2022 European LeukemiaNet genetic risk stratification changed risk group assignment for one-third of Black patients and improved their outcome prediction., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
50. Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing.
- Author
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Wedemeyer MA, Ding T, Garfinkle EAR, Westfall JJ, Navarro JB, Hernandez Gonzalez ME, Varga EA, Witman P, Mardis ER, Cottrell CE, Miller AR, and Miller KE
- Subjects
- Humans, Capillaries pathology, Capillaries abnormalities, Megalencephaly genetics, Megalencephaly pathology, PAX3 Transcription Factor genetics, PAX3 Transcription Factor metabolism, Fibroblasts metabolism, Port-Wine Stain genetics, Port-Wine Stain pathology, High-Throughput Nucleotide Sequencing methods, Mutation, Female, Male, Abnormalities, Multiple, Telangiectasis congenital, Skin Diseases, Vascular, Class I Phosphatidylinositol 3-Kinases genetics, Single-Cell Analysis methods, Transcriptome, Vascular Malformations genetics, Vascular Malformations pathology
- Abstract
PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have been reported, although identification of an appropriate agent can be hampered by the mosaic nature and corresponding low variant allele frequency of the causal variant. Moreover, our understanding of the molecular consequences of these variants-for example how they affect gene expression profiles-remains limited. Here we describe in vitro expansion of a human capillary malformation followed by molecular characterization using exome sequencing, single cell gene expression, and targeted long-read single cell RNA-sequencing in a patient with clinical features consistent with Megalencephaly-Capillary Malformation Syndrome (MCAP, a PROS condition). These approaches identified a targetable PIK3CA variant with expression restricted to PAX3+ fibroblast and undifferentiated keratinocyte populations. This study highlights the innovative combination of next-generation single cell sequencing methods to better understand unique transcriptomic profiles and cell types associated with MCAP, revealing molecular intricacies of this genetic syndrome., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
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