39 results on '"Connaughton, D."'
Search Results
2. Predictors of long term outcomes of IgA nephropathy
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Kabir U, Rahman T, Connaughton D, and Conlon P
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Medicine ,Science - Published
- 2012
- Full Text
- View/download PDF
3. Body image in middle school children
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Hausenblas, H. A., Downs, D. Symons, Fleming, D. S., and Connaughton, D. P.
- Published
- 2002
- Full Text
- View/download PDF
4. Concurrent improvements in cardiorespiratory and muscle fitness in response to total body recumbent stepping in humans
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Hass, C., Garzarella, L., de Hoyos, D., Connaughton, D., and Pollock, M.
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- 2001
- Full Text
- View/download PDF
5. RELATIONSHIP BETWEEN HEALTH-RELATED FITNESS COMPONENTS AND SOCIAL PHYSIQUE ANXIETY IN COLLEGE STUDENTS
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Musto, A A., Connaughton, D, Hausenblas, H, and Epstein, R
- Published
- 2003
6. AUTOMATED EXTERNAL DEFIBRILLATOR USE AND FACTORS RELATED TO NONUSE IN HEALTH/FITNESS FACILITIES
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Spengler, J O., Connaughton, D P., Hausenblas, H A., Zhang, J J., Connaughton, A V., Braunstein, J R., and Musto, A A.
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- 2003
7. RELATIONSHIP BETWEEN HEALTH-RELATED FITNESS COMPONENTS: WHICH IS THE BEST INDICATOR OF OVERALL FITNESS IN COLLEGE STUDENTS?
- Author
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Musto, A A, Connaughton, D, Hausenblas, H, Balog, S, and Brown, M
- Published
- 2001
8. Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland
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Cormican, S., primary, Connaughton, D. M., additional, Kennedy, C., additional, Murray, S., additional, Živná, M., additional, Kmoch, S., additional, Fennelly, N. K., additional, O’Kelly, P., additional, Benson, K. A., additional, Conlon, E. T., additional, Cavalleri, G., additional, Foley, C., additional, Doyle, B., additional, Dorman, A., additional, Little, M. A., additional, Lavin, P., additional, Kidd, K., additional, Bleyer, A. J., additional, and Conlon, P. J., additional
- Published
- 2019
- Full Text
- View/download PDF
9. S02. The Next Step in Cardiac Genetics: Targeted gene panels and next generation sequencing in inherited cardiac conditions
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Deeny, HA, Murphy, AM, O'Rourke, D, Gallagher, S, Rea, G, Ware, JS, Lightman, EG, Walsh, R, John, S, Homfray, T, Till, J, Prasad, S, Buchan, R, Wilkinson, S, Barton, PJR, Cook, SA, McVeigh, TP, Cody, N, Meany, M, Carroll, C, O'Shea, R, Gallagher, DJ, Clabby, C, Green, AJ, Casey, J, Crushell, E, Hughes, J, Losty, E, Slattery, D, Green, A, Ennis, S, Lynch, SA, Kirk, CW, McKee, S, Project, DDD, Al Shehhi, M, Shen, S, Gallagher, L, Betts, DR, McArdle, L, Quinn, EM, Coleman, C, Molloy, B, Dominguez Castro, P, Trimble, V, Mahmud, N, McManus, R, Jung, S, Salzman, D, Kerin, MJ, Nallur, S, Dookwah, M, Nemec, AA, Sadofsky, J, Paranjape, T, Kelly, O, Chan, E., Miller, N, Sweeney, KJ, Zelterman, D, Sweasy, J, Pilarski, R, Telesca, D, Weidhaas, JB, Stapleton, CP, McCormack, M, Connaughton, D, Phelan, PJ, Cavalleri, GL, Conlon, PJ, Gilbert, E, O'Reilly, S, Merrigan, M, McGettigan, D, Cavalleri, G, Heavin, SB, Slattery, L, Walley, N, Avbersek, A, Novy, J, Sinha, S, Alarts, N, Legros, B, Radtke, R, Doherty, C, Depondt, C, Sisodiya, S, Goldstein, D, Delanty, N, Nesbit, MA, Courtney, DG, Allen, EHA, Atkinson, SD, Maurizi, E, Moore, JE, Pedrioli, DM Leslie, McLean, WHI, Moore, CBT, Petyrka, J, Vieira, M, Donnelly, DE, O'Neill, T, Hardy, R, Morrison, PJ, Hegarty, M, Irvine, M, Dabir, T, Zhang, X, Dineen, T, Flanagan, J, Kovacs, A, Mihart, R, O'Callaghan, J, Culligan, J, Daly, N, McAuliffe, D, Waterstone, J, Owens, P, Guerin, C, Quill, D, Bell, M, Lowery, AJ, Bradley, L, Barton, DE, Matthews, J, Turner, J, O'Byrne, JJ, Fitzsimons, PE, Unger, S, Croft, J, Mayne, PD, Moylette, E, McDonnell, C, Parker, VE, Al-Shehhi, M, Kelly, PM, Costigan, C, Hegarty, A, Knox, R, Byrne, S, Semple, LRK., Irvine, A, McDaid, J, Ryan, H, Dunne, A, Lambert, DM, Treacy, EP, Lynch, SM, McKenna, MM, Walsh, CP, McKenna, DJ, Whitton, L, Cosgrove, D, Clarkson, C, Gill, M, Corvin, A, Rea, S, Donohoe, G, Morris, D, Neville, J, Ryan, AM, Hand, CK, Ryan, E, Ryan, F, Barton, D, O'Dwyer, V, Neylan, D, Nesbitt, H, Byrne, NM, Worthington, J, Mc Keown, SR, Mc Kenna, DJ, Harold, D, Holland, J, Mothershill, O, Allen, EH, Leslie Pedrioli, DM, Courtney, D, Cole, A, Cox, S, Jeong, C, Droma, Y, Hanaoka, M, Ota, M, Gasparini, P, Montgomery, H, Di Rienzo, A, Robbins, P, L. Cavalleri, G, Heavin, S, Buckley, P, Irwin, RE, Thakur, A, O’ Neill, KM, Cummins, Paul, Mackin, SJ, O'Neill, K, Walsh, C, Schiroli, D, Mulligan, R, Sebag, F, Ozaki, M, Molloy, AM, Mills, JL, Fan, R, Wang, Y, Gibney, ER, Shane, B, Brody, LC, Parle-Mcdermott, A, O'Halloran, ET, Ebrahim, A, Meydan, C, Mason, C, and Magalhães, TR
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Poster Presentations ,Abstracts ,Programme ,Spoken Papers - Abstract
Aims The Irish DNA Atlas is a DNA collection being assembled with the aim of describing the fine-scale population structure in Ireland. Understanding such structure can inform on optimal design of clinical genetic studies as well as the history of the Irish population. We will present an overview of and the preliminary findings from the study. Methods We are recruiting individuals with all eight greatgrandparents born in Ireland, within 30 kilometres of each other. Participants are asked to complete a detailed birth-brief, which records place and date of birth of three generations of ancestors. We also collect some basic health-related details. DNA is extracted from a saliva sample. We have genotyped using an Illumina OmniExpressdense SNP genotyping platform. We present a number of analyses designed to visualise genetic structure, including; Principle Component, ADMIXTURE, and Runs of Homozygosity analysis. Results To date we have recruited 162 participants. The mean great-grandparental area is 32 kilometres, with an average greatgrandparental date of birth of 1850. Therefore the individuals in the Atlas provide insight to the genetic landscape of Ireland before significant movement of people from the 20th century onwards. An analysis of dense genotyping data from 142participants shows that the Atlas participants cluster closely with British individuals in a Europe wide PCA, but present different ancestral population components when compared with British, and other European populations. Irish individuals also present slightly higher levels of homozygosity relative to mainland European levels. PCA targeted at specific areas of interest within Ireland also hint at fine-scale substructure. Conclusion Ireland shows typical features of a homogenous population, well suited to the study of rare variation in disease risk., Background Progress in diagnostic and therapeutic strategies in medicine is dependent upon high-quality biomedical research. Translation of research findings into the clinic relies on patient participation in innovative clinical trials. We investigated attitudes to genetic research in Ireland, in particular with respect to commercial and financial implications. Methods A multi-centre cross-sectional survey study was performed. Consecutive patients attending four out-patient clinics were asked to complete paper-based questionnaires. An electronic version of the same questionnaire was created on Survey Monkey with a link made public on a social media website for a period of 24 hours. Data was analysed using SPSS. Results 351 questionnaires were completed (99 paper, 252 electronic). The majority of respondents were female (n = 288, 82%), and highly educated, with 244 (70%) attending college/university. Most participants supported genetic research (267, 76%), more frequently for common diseases (274, 78%) than rare disorders (204, 58%, p < 0.001, x2). 103 (29%) had participated in scientific research, and 57(16%) had donated material to a bio-bank. The majority (n = 213, 61%) would not support research with potential financial/commercial gain. 106(30%) would decline to participate in research if researchers would benefit financially, compared to 49(14%) if the research was supported by a pharmaceutical company, (p < 0.001, x2). Respondents would provide buccal samples (258, 74%) more readily than tissue (225, 64%) or blood (222, 63%). Conclusion A high level of support for genetic research exists among the Irish population, but active participation is dependent upon a number of factors, notably, type of biological material required, frequency of the disease in question, and commercial interest of the researchers., Introduction Although the etiology of schizophrenia (SZ) is largely unknown, it is increasingly clear that genetic and environmental interactions contribute to cognitive deficits associated with this disorder. Recent Genome wide association studies (GWAS) have indicated a link between SZ and immune dysregulation, especially genetic mutations related to the major histocompatibility complex (MHC). Cognitive deficits are core features of Schizophrenia and related disorders, which relate to genetic risk. This study aims to explore the relationship between MHC risk variants for SZ and cognitive deficits, while also relating findings to brain activity. Methods To test if MHC risk variants impair cognition, ANCOVA analysis is performed on genetics data previously collected in a GWAS. Cognition measures are compared in groups with and without MHC genetic risk, in a population of SZ sufferers and healthy controls. Functional MRI imaging will also be performed to test if genetic risk relates to altered neural activity. Results Preliminary analyses suggest that MHC risk variants contribute to impairments in cognition in domains of social cognition, IQ and attention. Further analysis will be performed to test for environmental mediators of this relationship, looking at cannabis use and urbanicity. BOLD fMRI will also be used to test for a relationship between MHC risk and altered neural activity, using MATLAB SPM. Conclusions The MHC genetic variant may serve as a significant risk marker for schizophrenia, and further elucidate etiology of this neurodevelopmental disorder. Future studies on neurobiology of social cognition, and greater knowledge of genetic risk may establish targets for interventions., Aim To create a bioluminescence mouse model which expresses firefly luciferase in the corneal epithelium to assess gene editing and gene silencing for the cornea. Methods A gene targeting vector was generated where the Krt12 coding sequence in and the splice donor site of exon 1 were replaced with a transgene cassette containing a luc2-Multiple Targeting Cassette (MTC) gene fusion. The vector was transfected by electroporation into the Taconic Artemis C57BL/6N Tac ES cell line. Homologous recombinant clones were isolated and validated, and the mice bred with luc2-positive/ PuroR-negative offspring used for colony establishment. To visualise the expression of luc2 within the corneal epithelium, luciferin substrate diluted in viscotears was applied to the front of the eye and then luciferase expression was imaged and assessed using a Xenogen IVIS Lumina Imager and LivingImage 3.2 software. Intrastromal injection of siGlo siRNA was used to determine the localisation of siRNA within the corneal epithelium and then the established mouse model was treated with either native or Accell “self-delivery” siRNA. Results The Accell “self-delivery” siRNA induced potent sustained allele specific silencing for 7 days, while native versions of siRNA resulted in significant knock-down for 1 day only (p < 0.05). We have created and validated a bioluminescence mouse model and have utilised it to assess siRNA in vivo. This mouse model coupled with the Lumina imager will allow us to assess topical delivery of gene therapies to the ocular surface allowing validation for future translation to clinical use., Background Methylation of DNA sequences at promoters, CpG islands and other elements plays a vital role in regulating gene activity. In human, loss of methylation is known to play a causative role in imprinting disorders and in inappropriate germline gene expression in cancers. While in mouse, loss of function mutants have given great insight into the targets of methylation, functional studies in human have been largely limited to cancer cells and more recently stem cells, not normal adult cells. Methods Stable knockdowns of the maintenance methyltransferase DNMT1 were generated in normosomic hTERT-immortalised adult fibroblasts. Genome-wide methylation levels were assayed using the Illumina 450K bead array. Results were analysed using RnBeads and Galaxy. Locusspecific methylation was verified using pyrosequencing and clonal analysis. Validation was achieved using transient siRNA. Results Loss of function was poorly tolerated and all clonally-expanded cell lines had spontaneously restored DNMT1 levels by silencing of the shRNA. Evidence for a genome-wide methylation erasure event followed by a wave of remethylation could be clearly traced. Gene bodies and the shores of CpG islands showed the clearest loss of methylation overall. While most CpG islands are normally unmethylated and so unaffected, both imprints and germline genes fall into the rarer category of normally methylated islands: of these two, lasting loss of methylation was much more common among imprints than germline genes. Conclusions 1: transient loss of methylation is poorly tolerated; 2: a robust mechanism for remethylation exists even in adult cells; 3: aberrant remethylation is frequent on recovery and 4: Imprints are particularly sensitive., Background Dihydrofolate reductase (DHFR) is essential for the conversion of folic acid to active folate needed for one-carbon metabolism. Common genetic variation within DHFR is restricted to the noncoding regions and previous studies have focused on a 19 bp deletion/insertion polymorphism (rs70991108) within intron 1. Reports of an association between this polymorphism and blood folate biomarker concentrations are conflicting. Objective We aimed to evaluate whether the DHFR 19bp deletion/ insertion polymorphism affects circulating folate biomarkers in the largest cohort to address this question to date. Methods Young healthy Irish individuals (n= 2,507) between 19 to 36 years old were recruited between February 2003 and 2004. Folic acid intake from supplements and fortified foods was assessed using a customized food intake questionnaire. Concentrations of serum folate and vitamin B-12, red blood cell (RBC) folate and plasma total homocysteine (tHcy) concentration were measured. Data were analysed using linear regression models. Results Folic acid intake was positively associated with serum (P 326μg folic acid/day; P = 0.96). A non-significant trend towards lower RBC folate by genotype (P = 0.09) was observed in the lowest folic acid intake quintile (0 – 51 μg/day). Conclusion In this cohort of young healthy individuals the DHFR 19bp deletion allele does not significantly affect circulating folate status, irrespective of folic acid intake. Our data rule out a strong functional effect of this polymorphism on blood folate concentrations.
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- 2015
10. Home haemodialysis in Ireland
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Kennedy, C, primary, Connaughton, D M, additional, Murray, S, additional, Ormond, J, additional, Butler, A, additional, Phelan, E, additional, Young, J, additional, Durack, L, additional, Flavin, J, additional, O’Grady, M, additional, O’Kelly, P, additional, Lavin, P, additional, Leavey, S, additional, Lappin, D, additional, Giblin, L, additional, Casserly, L, additional, Plant, W D, additional, and Conlon, P J, additional
- Published
- 2017
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11. What every refiner should know about nitrogen generation and delivery
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Connaughton, D.
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Petroleum refineries -- Management ,Sulfuric acid -- Usage ,Nitrogen -- Usage ,Company business management ,Business ,Petroleum, energy and mining industries - Abstract
Byline: Connaughton, D. Generating N2 on-demand is a sustainable and energy-efficient approach. Nitrogen (N2) is often used in refineries to blanket tanks and reduce the chance of fire or explosion. [...]
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- 2014
12. Home haemodialysis in Ireland.
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Lavin, P., Connaughton, D. M., Ormond, J., Butler, A., O'Kelly, P., Kennedy, C., Conlon, P. J., Murray, S., Phelan, E., Young, J., Leavey, S., Durack, L., Lappin, D., Giblin, L., Flavin, J., Casserly, L., O'Grady, M., and Plant, W. D.
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HOME hemodialysis , *EPIDEMIOLOGY , *KIDNEY transplantation , *HEALTH outcome assessment , *MEDICAL records , *SURVIVAL analysis (Biometry) - Abstract
Background: Home haemodialysis (HHD) has the potential to impact positively on patient outcomes and health resource management. There has been rejuvenated international interest in HHD in recent years. Aim: We aimed to review the activity and outcomes of the Irish HHD Programme since inception (2009-16). Design: Retrospective review. Methods: Patient data were collected using the national electronic Renal Patient database (eMEDRenal version 3.2.1) and individual centre records. All data were recorded in a coded fashion on a Microsoft Excel Spread-sheet and analysed with Stata SE software. Results: One hundred and one patients completed training and commenced HHD; a further fourty-five patients were assessed for HHD suitability but did not ultimately dialyse at home. Twenty patients switched to nocturnal HHD when this resource became available. The switch from conventional in-centre dialysis to HHD led to an increase in the mean weekly hours on haemodialysis (HD) and a reduction in medication burden for the majority of patients. The overall rate of arteriovenous fistula (AVF) as primary vascular access was 62%. Most HHD complications were related to access function or access-related infection. Over the 7-years, 29 HHD patients were transplanted and 9 patients died. No deaths resulted directly from a HHD complication or technical issue. Conclusions: Patient and technique survival rates compared favourably to published international reports. However, we identified several aspects that require attention. A small number of patients were receiving inadequate dialysis and require targeted education. Ongoing efforts to increase AVF and self-needling rates in HD units must continue. Psychosocial support is critical during the transition between dialysis modalities. [ABSTRACT FROM AUTHOR]
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- 2018
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13. The Science Case for 4GLS
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Allan, R.J., Allen, M.P., Alexandrov, A.S., Ashfold, M.N.R., Atkinson, R., Avaldi, L., Bain, C.D., Bancroft, J., Barrett, S.D., Barron, L.D., Bayliss, S., Becker, U., Benning, L.G., Berrah, N., Binns, C., Bisby, R.H., Bizau, J.M., Blake, R.J., Bowler, M.A., Bowyer, J., Brettle, J., Briggs, D., Brown, L.M., Brown, W.A., Burke, P.G., Cacho, C., Carter, R., Catlow, R., Cernik, R.J., Chesters, M., Clark, S.A., Clarke, D.T., Clarke, J.A., Codling, K., Cogdell, R., Connaughton, D., Connerade, J.P., Costello, J.T., Crapper, M.D., Creaser, C., Currell, F.J., Davies, P.B., de Jong, M., Dessent, C., Dhanak, V.R., Dobson, D.M., Dobson, P.J., Doig, A.J., Donovan, R.J., Dumas, P., Dunn, K., Dutuit, O., Dyke, J.M., Eastham, D.A., Egdell, R.G., Eland, J.H.D., Emerson, D.R., Eriksson, M., Erman, P., Evans, A., Evans, H., Evans, S., Field, T., Fielding, H., Fisher, A., Flavell, W.R., Ford, R., Frasinski, L.J., Freeman, N., Galayda, J.N., Gardner, P., Garside, J., Gay, N.J., Gejo, T., George, M., Gray, M.D., Greenshaw, T.J., Greig, D., Halsall, M.P., Hamilton, B., Harrison, N.M., Hasnain, S.S., Hatherly, P.A., Heathcote, P., Helliwell, J.R., Henderson, C.M.B, Hepburn, J., Hill, J., Hirst, G., Hirst, J.D., Holland, D.M.P., Horn, A.B., Horton, P., Hunt, M.R.C., Hutchinson, H., Inglesfield, J.E., Ivanov, V.K., Johnson, C.A.F., Johnson, L.N., Jones, D., Jones, F.H., Jones, G.R., Jones, L., Kadodwala, M., Karlsson, L., Kennedy, E.T., King, G.C., King, M.R.F., Kirkman, I.W., Kleese, K., Knight, P.L., Kylstra, N., Larkins, F.P., Latimer, C., Lawley, K.P., Leggett, G.J., Lewis, R.A., Lindsey, K., Lu, J.R., Lyng, F.M., Macdonald, M.A., Malins, A., Marangos, J.P., Margaritondo, G., Marsi, M., Marston, G., Martin, S.R., Martin-Fernandez, M.L., Mason, N.J., Matthew, J.A.D., McCoustra, M.R.S., McGilp, J., McGovern, I.T., McGrath, R., Meldrum, R.A., Meyer, M., Millar, T.J., Mitchell, D., Møller, S.P., Molster, F.J., Moriarty, P., Morin, P., Munro, I.H., Murdin, B.N., Nahon, L., Newell, W.R., Noble, C.J., Nordgren, E.J., Norman, P.R., O'Brien, P., O'Neill, P., O'Shea, P., Owen, H., Pain, R., Papiz, M., Parker, A., Parker, J., Parr, A., Pattrick, R., Pemble, M.E., Picardo, M., Pidgeon, C.R., Pinheiro, T.J.T., Poliakoff, E.D., Poole, M.W., Potts, A., Potvliege, R., Powis, I., Price, S.D., Quinn, F.M., Radford, S., Rachlew-Källne, E., Raval, R., Read, F.H., Reddish, T.J., Ridley, P.A., Roberts, G., Russell, A.E., Ryan, A.J., Sapelkin, A., Sato, S., Schneider, A., Seddon, E.A., Shaw, E.A., Shen, T., Sherwood, P., Šiller, L., Smith, A.D., Smith, D.A., Smith, I., Smith, S.L., Snowdon, K., Softley, T.P., Sokell, E., Southworth, S.H., Srivistava, G.P., Stankiewicz, M., Sule-Suso, J., Sutherland, J.C., Surman, M., Svensson, S., Taylor, A.O., Temmerman, W.M., Thomas, A., Tiddy, G.J., Tobin, M., Towns-Andrews, Elizabeth, Towrie, M., Truscott, G., Tuckett, R.P., Turner, Tracy, Twigg, M.V., Vagdama, P., van der Hart, H.W., Volk, M., Vrakkring, M.J.J., Walker, I.C., Wander, A., Wasserman, S.P., Watanabe, M., Weightman, P., Welton, T., West, J.B., Wharton, C.W., Whitehead, J.C., Williams, G.P., Winick, H., Withnall, R., Woodruff, D.P., and Zayats, A.
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Q1 - Published
- 2001
14. Graduating medical students' exercise prescription competence as perceived by deans and directors of medical education in the United States: implications for Healthy People 2010
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Connaughton, A. V., Weiler, R. M., and Connaughton, D. P.
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Adult ,Faculty, Medical ,Attitude of Health Personnel ,Health Priorities ,education ,Health Promotion ,United States ,Cross-Sectional Studies ,Prescriptions ,Physical Fitness ,Surveys and Questionnaires ,Humans ,Clinical Competence ,Exercise ,Schools, Medical ,Research Article ,Education, Medical, Undergraduate - Abstract
OBJECTIVES: This study examined perceptions of deans and directors of medical education at 128 allopathic schools of medicine in the US about the importance of physical activity and exercise topics, and their perceptions about the competence of graduating medical students to perform six fundamental skills related to exercise prescription. Healthy People 2010 recommends that clinicians counsel all patients about regular physical activity. However, in previous studies physicians identified lack of training as a barrier to physical activity counseling, and they questioned their own ability to advise patients properly. METHODS: Using the 17-item Exercise and Physical Activity Competence Questionnaire, data were collected from 72 of 128 medical schools, for a response rate of 56%. RESULTS: While 58% of respondents indicated their typical graduate was competent in conducting a patient evaluation for the purpose of approving that patient to begin an exercise program, only 10% said their students could design an exercise prescription. Only 6% of respondents reported that their school provided a core course addressing the American College of Sports Medicine Guidelines for Exercise Testing and Prescription. CONCLUSIONS: Findings suggest a need for more undergraduate medical training in physical activity and exercise prescription.
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- 2001
15. Compliance with use of patient identification wristbands in an Irish emergency department
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James, K.P., primary, Connaughton, D., additional, Yates, J., additional, and Sengupta, S., additional
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- 2012
- Full Text
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16. Home haemodialysis in Ireland
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Connaughton, D. M., primary, Jamal, A., additional, McWilliams, J., additional, O’Kelly, P., additional, Ormond, J., additional, Butler, A., additional, McEntee, N., additional, Tierney, E., additional, Lambe, G., additional, Denton, M., additional, Magee, C., additional, and Conlon, P. J., additional
- Published
- 2012
- Full Text
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17. Interpreting Nutritional Parameters in the Cystic Fibrosis (CF): Silent Informers of Pulmonary Disease?.
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Connaughton, D, primary, Chotirmall, S, additional, Flynn, M, additional, Wan Montil, W, additional, Damachi, U, additional, Akijian, L, additional, Branagan, P, additional, Low, T, additional, Gunaratnam, C, additional, and McElvaney, N, additional
- Published
- 2009
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18. Control of Motoneuron Survival by Angiogenin
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Kieran, D., primary, Sebastia, J., additional, Greenway, M. J., additional, King, M. A., additional, Connaughton, D., additional, Concannon, C. G., additional, Fenner, B., additional, Hardiman, O., additional, and Prehn, J. H. M., additional
- Published
- 2008
- Full Text
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19. INCREASES IN CARDIOVASCULAR AND MUSCULAR FITNESS IN RESPONSE TO TOTAL BODY RECUMBENT STEPPING
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Hass, C., primary, Garzarella, L., additional, De Hoyos, D., additional, Connaughton, D., additional, and Pollock, M., additional
- Published
- 1999
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20. COMPARISON OF LOW BACK EMG ACTIVITY DURING EXERCISE ON THE STAIRMASTER 4000PT AND STAIRMASTER 1650LE
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Murray, R. D., primary, Thomas, T., additional, Bauer, J. A., additional, and Connaughton, D., additional
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- 1998
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21. Law for the health/fitness professional: part II.
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Connaughton D and Eickhoff-Shemek J
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- 2003
22. The impact of peritransplant warfarin use on renal transplant outcome
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Connaughton, D. M., Phelan, P. J., Scheult, J., Marwan Ma'ayeh, O Kelly, P., Walshe, J. J., Magee, C., Little, D., Hickey, D., Slaby, J., and Conlon, P. J.
23. The legal aspects. Health/fitness programs and AEDs: an overview of current legislation.
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Spengler JO and Connaughton D
- Published
- 2004
24. RELATIONSHIP BETWEEN HEALTHRELATED FITNESS COMPONENTS
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Musto, A A, Connaughton, D, Hausenblas, H, Balog, S, and Brown, M
- Published
- 2001
25. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
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Rufeng Dai, Shrikant Mane, Marcello Scala, Shirlee Shril, Alina C. Hilger, Dervla M. Connaughton, Franziska Kause, Heidi L. Rehm, Bernd Hoppe, Gianluca Piatelli, Stefanie Märzheuser, Makiko Nakayama, Caroline M. Kolvenbach, Richard P. Lifton, Vincenzo Nigro, Luca Schierbaum, Thomas M. Kitzler, Friedhelm Hildebrandt, Eberhard Schmiedeke, Gabriel C. Dworschak, Sophia Schneider, Heiko Reutter, Annalaura Torella, Valeria Capra, Amelie T. van der Ven, Ronen Schneider, Nina Mann, Andrea Accogli, Kolvenbach, C. M., van der Ven, A. T., Kause, F., Shril, S., Scala, M., Connaughton, D. M., Mann, N., Nakayama, M., Dai, R., Kitzler, T. M., Schneider, R., Schierbaum, L., Schneider, S., Accogli, A., Torella, A., Piatelli, G., Nigro, V., Capra, V., Hoppe, B., Marzheuser, S., Schmiedeke, E., Rehm, H. L., Mane, S., Lifton, R. P., Dworschak, G. C., Hilger, A. C., Reutter, H., and Hildebrandt, F.
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Male ,medicine.medical_specialty ,Candidate gene ,Heart Diseases ,Tracheoesophageal fistula ,Kidney ,digestive system ,Gastroenterology ,Article ,VATER/VACTERL association ,03 medical and health sciences ,anorectal malformation (ARM) ,monogenic disease causation ,Genes, X-Linked ,Internal medicine ,Exome Sequencing ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,HSP90 Heat-Shock Proteins ,Exome ,Esophageal Atresia ,Genetics (clinical) ,Exome sequencing ,Genetic Association Studies ,030304 developmental biology ,Phenocopy ,Hemizygote ,Homeodomain Proteins ,0303 health sciences ,business.industry ,exome sequencing (WES) ,030305 genetics & heredity ,Receptors, Interleukin ,medicine.disease ,VACTERL association ,Phenotype ,digestive system diseases ,Anorectal Malformations ,3. Good health ,DNA-Binding Proteins ,Cytoskeletal Proteins ,congenital anomalies of the kidneys and urinary tract (CAKUT) ,HOXD13 ,Female ,business ,Tracheoesophageal Fistula ,Transcription Factors - Abstract
INTRODUCTION: The acronym VATER/VACTERL refers to the rare non-random association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb anomalies (L). For the clinical diagnosis the presence of at least three CFs is required, individuals presenting with only two CFs have been categorized as VATER/VACTERL-like. The majority of VATER/VACTERL individuals displays a renal phenotype. Hitherto, variants in FGF8, FOXF1, HOXD13, LPP, TRAP1, PTEN and ZIC3 have been associated with the VATER/VACTERL association; however, large-scale re-sequencing could only confirm TRAP1 and ZIC3 as VATER/VACTERL disease genes, both associated with a renal phenotype. METHODS: In this study, we performed exome sequencing in 21 individuals and their families with a renal VATER/VACTERL or VATER/VACTERL-like phenotype to identify potentially novel genetic causes. RESULTS: Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively. The online tool GeneMatcher revealed another individual with a variant in ZNF157. CONCLUSION: Our study suggests six biallelic and X-chromosomal hemizygous VATER/VACTERL disease gene implicating all six genes in the expression of human renal malformations.
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- 2021
26. Studies of genetic variants in monogenic renal tubular disorders
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Philpott, C, Reichart, S, Mennel, S, Piret, S, Connaughton, D, Hildebrandt, F, Pagnamenta, A, Lhotta, K, Unwin, R, Potter, P, Thakker, R, and Gorvin, C
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Medical genetics ,Renal tubular transport, Disorders of ,Genetics - Abstract
The renal tubules are the functional unit of the kidneys, responsible for: reabsorption of many substances including ions, solutes and water; and the secretion of waste products. The molecular mechanisms underlying these processes are tightly regulated by transporters, channels and receptors, which have different expression profiles within the renal tubular segments and their disruption can lead to disorders, with local and systemic phenotypes. Thus, monogenic renal tubular disorders affecting different segments are excellent tools for the study of specific pathways and mechanisms vital to reabsorption and secretion processes; as well as for gaining an insight into the biological and molecular differences between renal tubular segments. This thesis used next generation DNA sequencing (NGS) and Sanger DNA sequencing methods to identify novel candidate genes, and hence to study the genetic and molecular mechanisms underlying three monogenic renal tubular disorders: Dent’s disease (DD), familial juvenile hyperuricaemic nephropathy (FJHN) and familial hypocalciuric hypercalcaemia (FHH), each affecting different renal segments. For each of these disorders a large proportion of patients (25-55%) lack mutations in any of the known associated genes. However, one of the main issues with NGS remains accurate variant interpretation and therefore, the first aim was to investigate the effectiveness of in silico analysis tools to identify pathogenic variants and to determine the optimum parameters, which were then applied to the ‘gene-discovery’ studies. This thesis identified novel candidate genes for DD (CLCNKA), FJHN (CLDN3 and DENND4C) and FHH (KLOTHO) and revealed an approach for its potential successful application in the clinic for diagnosis.
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- 2020
27. A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner.
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Habiby R, Bichet DG, Arthus MF, Connaughton D, Shril S, Mane S, Majmundar AJ, Hildebrandt F, and Robertson GL
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- Aquaporin 2 genetics, Deamino Arginine Vasopressin therapeutic use, Female, Humans, Male, Receptors, Vasopressin genetics, Vasopressins genetics, Diabetes Insipidus genetics, Diabetes Insipidus, Nephrogenic genetics, Diabetes Mellitus
- Abstract
Context: Familial pituitary diabetes insipidus has been described only in an autosomal dominant or recessive mode of inheritance., Objective: This work aims to determine the cause of a novel form of familial diabetes insipidus (DI) that is controlled by desmopressin therapy but segregates in an X-linked recessive manner., Methods: Thirteen members from 3 generations of the kindred with familial DI were studied. Water intake, urine volume, urine osmolality, plasma osmolality, and plasma vasopressin were measured under basal conditions, during fluid deprivation, 3% saline infusion, and water loading. Magnetic resonance images of the posterior pituitary also were obtained. In affected males, the effects of desmopressin therapy and linkage of the DI to markers for chromosome Xq28 were determined. In addition, the genes encoding vasopressin, aquaporin-2, the AVPR2 receptor, and its flanking regions were sequenced., Results: This study showed that 4 males from 3 generations of the kindred have DI that is due to a deficiency of vasopressin, is corrected by standard doses of desmopressin, and segregates with markers for the AVPR2 gene in Xq28. However, no mutations were found in AVPR2 or its highly conserved flanking regions. Exome sequencing confirmed these findings and also revealed no deleterious variants in the provasopressin and aquaporin-2 genes. The 4 obligate female carriers osmo-regulated vasopressin in the low normal range., Conclusion: X-linked recessive transmission of DI can be due to a defect in either the secretion or the action of vasopressin. Other criteria are necessary to differentiate and manage the 2 disorders correctly., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
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- 2022
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28. The genetic landscape of polycystic kidney disease in Ireland.
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Benson KA, Murray SL, Senum SR, Elhassan E, Conlon ET, Kennedy C, Conlon S, Gilbert E, Connaughton D, O'Hara P, Khamis S, Cormican S, Brody LC, Molloy AM, Lynch SA, Casserly L, Griffin MD, Carton R, Yachnin K, Harris PC, Cavalleri GL, and Conlon P
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- Adolescent, Adult, Aged, Child, Child, Preschool, Female, Founder Effect, Genetic Loci, Humans, Ireland, Male, Middle Aged, Phenotype, Polycystic Kidney Diseases pathology, Mutation, Polycystic Kidney Diseases genetics
- Abstract
Polycystic kidney diseases (PKDs) comprise the most common Mendelian forms of renal disease. It is characterised by the development of fluid-filled renal cysts, causing progressive loss of kidney function, culminating in the need for renal replacement therapy or kidney transplant. Ireland represents a valuable region for the genetic study of PKD, as family sizes are traditionally large and the population relatively homogenous. Studying a cohort of 169 patients, we describe the genetic landscape of PKD in Ireland for the first time, compare the clinical features of patients with and without a molecular diagnosis and correlate disease severity with autosomal dominant pathogenic variant type. Using a combination of molecular genetic tools, including targeted next-generation sequencing, we report diagnostic rates of 71-83% in Irish PKD patients, depending on which variant classification guidelines are used (ACMG or Mayo clinic respectively). We have catalogued a spectrum of Irish autosomal dominant PKD pathogenic variants including 36 novel variants. We illustrate how apparently unrelated individuals carrying the same autosomal dominant pathogenic variant are highly likely to have inherited that variant from a common ancestor. We highlight issues surrounding the implementation of the ACMG guidelines for variant pathogenicity interpretation in PKD, which have important implications for clinical genetics.
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- 2021
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29. Home haemodialysis in Ireland.
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Kennedy C, Connaughton DM, Murray S, Ormond J, Butler A, Phelan E, Young J, Durack L, Flavin J, O'Grady M, O'Kelly P, Lavin P, Leavey S, Lappin D, Giblin L, Casserly L, Plant WD, and Conlon PJ
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- Adult, Aged, Aged, 80 and over, Female, Humans, Ireland, Kidney Failure, Chronic mortality, Kidney Transplantation, Male, Middle Aged, Retrospective Studies, Survival Rate, Hemodialysis, Home, Kidney Failure, Chronic therapy
- Abstract
Background: Home haemodialysis (HHD) has the potential to impact positively on patient outcomes and health resource management. There has been rejuvenated international interest in HHD in recent years., Aim: We aimed to review the activity and outcomes of the Irish HHD Programme since inception (2009-16)., Design: Retrospective review., Methods: Patient data were collected using the national electronic Renal Patient database (eMEDRenal version 3.2.1) and individual centre records. All data were recorded in a coded fashion on a Microsoft Excel Spread-sheet and analysed with Stata SE software., Results: One hundred and one patients completed training and commenced HHD; a further fourty-five patients were assessed for HHD suitability but did not ultimately dialyse at home. Twenty patients switched to nocturnal HHD when this resource became available. The switch from conventional in-centre dialysis to HHD led to an increase in the mean weekly hours on haemodialysis (HD) and a reduction in medication burden for the majority of patients. The overall rate of arteriovenous fistula (AVF) as primary vascular access was 62%. Most HHD complications were related to access function or access-related infection. Over the 7-years, 29 HHD patients were transplanted and 9 patients died. No deaths resulted directly from a HHD complication or technical issue., Conclusions: Patient and technique survival rates compared favourably to published international reports. However, we identified several aspects that require attention. A small number of patients were receiving inadequate dialysis and require targeted education. Ongoing efforts to increase AVF and self-needling rates in HD units must continue. Psychosocial support is critical during the transition between dialysis modalities.
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- 2018
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30. A prospective comparison of the performance and survival of two different tunnelled haemodialysis catheters: SplitCath® versus DuraMax®.
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McGarry JG, Given MF, Whelan A, O'Kelly P, Connaughton D, McGrath FP, Keeling AN, Conlon PJ, and Lee MJ
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- Aged, Aged, 80 and over, Catheterization, Central Venous adverse effects, Device Removal, Equipment Design, Equipment Failure, Female, Humans, Ireland, Kaplan-Meier Estimate, Male, Middle Aged, Prospective Studies, Risk Factors, Time Factors, Catheterization, Central Venous instrumentation, Central Venous Pressure, Renal Dialysis
- Abstract
Background: Despite their well-recognised shortcomings, haemodialysis catheters (HDCs) remain an important form of haemodialysis access for many patients. There are several HDCs commercially available, each differing considerably in design, which is known to significantly influence performance and survival. We sought to determine which of two tunnelled HDCs, DuraMax® (Angiodynamics, NY, USA) or SplitCath® (MedComp, PA, USA) delivers the best performance, safety and reliability for dialysis patients., Methods: Eighty-six patients were prospectively randomised to receive either DuraMax® (DM) or SplitCath® (SC). Outcomes included: (i) mean flow rates (mL/min) averaged over the first 10 weeks of dialysis, and urea reduction ratio (URR); and (ii) long-term catheter survival with appraisal of any events leading to catheter dysfunction and early removal., Results: Median flow rates (interquartile range) in the DM and SC groups were 321 (309-343) and 309 (294-322) mL/min, respectively (p = 0.002). URR values for the DM and SC groups were 71 (65-76) and 74 (70-78), respectively, (p = 0.094). There was no significant difference in long-term survival or frequency of incidents that required early HDC removal (9/43 in the DM group, 5/43 patients SC). A slightly higher incidence of HDC dislodgement was noted in the DM group, although this study was not statistically powered to determine its significance., Conclusions: We conclude that DM yields slightly higher flow rates in the first 10 weeks of dialysis, and a similar low incidence of complications and long-term survival for both DM and SC HDCs.
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- 2017
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31. The development and maintenance of mental toughness: perceptions of elite performers.
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Connaughton D, Wadey R, Hanton S, and Jones G
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- Adult, Athletic Performance physiology, Female, Humans, Interviews as Topic, Male, Pilot Projects, Surveys and Questionnaires, Adaptation, Psychological, Athletic Performance psychology, Attitude, Competitive Behavior physiology, Motivation, Social Perception
- Abstract
Seven participants from a previous study (Jones, Hanton, & Connaughton, 2002) agreed to be interviewed about the development of mental toughness. We also aimed to determine whether mental toughness requires maintenance. Semistructured interviews were conducted to elicit the participants' perceptions of how mental toughness is cultivated and retained. Findings indicated that the development of mental toughness is a long-term process that encompasses a multitude of underlying mechanisms that operate in a combined, rather than independent, fashion. In general, these perceived underlying mechanisms related to many features associated with a motivational climate (e.g. enjoyment, mastery), various individuals (i.e. coaches, peers, parents, grandparents, siblings, senior athletes, sport psychologists, team-mates), experiences in and outside sport, psychological skills and strategies, and an insatiable desire and internalized motives to succeed. It was also reported that once mental toughness had been developed, three perceived underlying mechanisms were required to maintain this construct: a desire and motivation to succeed that was insatiable and internalized, a support network that included sporting and non-sporting personnel, and effective use of basic and advanced psychological skills. Practical implications and future avenues of research are discussed.
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- 2008
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32. Perceived control of anxiety and its relationship to self-confidence and performance.
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Hanton S and Connaughton D
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- Adult, Anxiety etiology, Humans, Internal-External Control, Interviews as Topic, Male, Anxiety psychology, Swimming psychology
- Abstract
This study examined performers' retrospective explanations of the relationship between anxiety symptoms, self-confidence, and performance. Interviews were used to determine how the presence of symptoms and the accompanying directional interpretation affected performance in six elite and six subelite swimmers. Causal networks revealed that perceived control was the moderatingfactor in the directional interpretation of anxiety and not the experience of anxiety symptoms alone. Symptoms perceived to be under control were interpreted to have facilitative consequences for performance; however, symptoms not under control were viewed as debilitative. Increases or decreases in self-confidence wereperceived to improve or lower performance. Findings reveal how cognitive and somatic information was processed, what strategies were adopted, and how this series of events related to performance.
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- 2002
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33. Graduating medical students' exercise prescription competence as perceived by deans and directors of medical education in the United States: implications for Healthy People 2010.
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Connaughton AV, Weiler RM, and Connaughton DP
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- Adult, Cross-Sectional Studies, Faculty, Medical, Health Priorities, Humans, Schools, Medical, Surveys and Questionnaires, United States, Attitude of Health Personnel, Clinical Competence, Education, Medical, Undergraduate standards, Exercise physiology, Health Promotion standards, Physical Fitness, Prescriptions standards
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Objectives: This study examined perceptions of deans and directors of medical education at 128 allopathic schools of medicine in the US about the importance of physical activity and exercise topics, and their perceptions about the competence of graduating medical students to perform six fundamental skills related to exercise prescription. Healthy People 2010 recommends that clinicians counsel all patients about regular physical activity. However, in previous studies physicians identified lack of training as a barrier to physical activity counseling, and they questioned their own ability to advise patients properly., Methods: Using the 17-item Exercise and Physical Activity Competence Questionnaire, data were collected from 72 of 128 medical schools, for a response rate of 56%., Results: While 58% of respondents indicated their typical graduate was competent in conducting a patient evaluation for the purpose of approving that patient to begin an exercise program, only 10% said their students could design an exercise prescription. Only 6% of respondents reported that their school provided a core course addressing the American College of Sports Medicine Guidelines for Exercise Testing and Prescription., Conclusions: Findings suggest a need for more undergraduate medical training in physical activity and exercise prescription.
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- 2001
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34. Giardiasis--zoonosis or not?
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Connaughton D
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- Animals, Cats, Dogs, Humans, Giardiasis transmission, Mammals parasitology, Zoonoses transmission
- Published
- 1989
35. What you need to know about the feline immunodeficiency virus.
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Connaughton D
- Subjects
- Animals, Cats, Disease Models, Animal, Retroviridae Infections microbiology, Cat Diseases microbiology, Retroviridae physiology, Retroviridae Infections veterinary
- Published
- 1989
36. Bovine somatotropins: benefits and risks.
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Connaughton D
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- Animals, Female, Pregnancy, Recombinant Proteins administration & dosage, Cattle physiology, Growth Hormone administration & dosage, Lactation drug effects
- Published
- 1989
37. The College in Latin America.
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Connaughton D
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- Latin America, National Health Programs, General Surgery, Societies, Medical
- Published
- 1978
38. The federal focus on competition in health care.
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Connaughton DM
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- United States, Commerce, Delivery of Health Care economics, Health Policy
- Published
- 1981
39. The threat of aflatoxins.
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Connaughton D
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- Aflatoxins adverse effects, Aluminum Silicates pharmacology, Animals, Aspergillus growth & development, Aspergillus flavus growth & development, Humans, Aflatoxins toxicity, Animal Feed, Food Contamination
- Published
- 1989
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