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Littérature scientifique sur le sujet « Prader »

Auteur : Grafiati

Publié le 4 juin 2021

Mis à jour le 25 avril 2022

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Articles de revues sur le sujet "Prader"

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Ács, Orsolya Dóra, Bálint Péterfia, Péter Hollósi, Irén Haltrich, Ágnes Sallai, Andrea Luczay, Karin Buiting et al. « Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására ». Orvosi Hetilap 159, n^o 2 (janvier 2018) : 64–69. http://dx.doi.org/10.1556/650.2018.30918.

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Abstract: Introduction: According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader–Willi syndrome. Aim: Our aim was to develop a simple, reliable first-tier diagnosis to confirm Prader–Willi syndrome, therefore to compare our self-designed simple, cost-efficient high-resolution melting analysis and the most commonly used methylation-specific multiplex ligation-dependent probe amplification to confirm Prader–Willi syndrome. Method: We studied 17 clinically suspected Prader–Willi syndrome children and their DNA samples. With self-designed primers, bisulfite-sensitive polymerase chain reaction, high-resolution melting analysis and, as a control, methylation-specific multiplex ligation-dependent probe amplification were performed. Results: Prader–Willi syndrome was genetically confirmed in 6 out of 17 clinically suspected Prader–Willi syndrome patients. The results of high-resolution melting analysis and methylation-specific multiplex ligation-dependent probe amplification were equivalent in each case. Conclusion: Using our self-designed primers and altered bisulfite-specific PCR conditions, high-resolution melting analysis appears to be a simple, fast, reliable and effective method for primarily proving or excluding clinically suspected Prade-Willi syndrome cases. Orv Hetil. 2018; 159(2): 64–69.

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Goulart, Karollyne Campos Ferreira, Erasmo Henrique Rezende Golinelli, Luiza Castro Fernandes, Ana Claudia do Nascimento Coutinho, Isabella Freire Pedrini, Haiana Coelho Rocha Silva, João Victor Alves Xavier et al. « Síndrome de Prader-Willi/ Prader-Willi syndrome ». Brazilian Journal of Health Review 4, n^o 5 (13 octobre 2021) : 21636–43. http://dx.doi.org/10.34119/bjhrv4n5-250.

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Millichap, J. Gordon. « Prader-Willi Syndrome ». Pediatric Neurology Briefs 5, n^o 12 (1 décembre 1991) : 90. http://dx.doi.org/10.15844/pedneurbriefs-5-12-2.

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Marsh, Lynne. « Prader-Willi syndrome ». Learning Disability Practice 21, n^o 6 (27 novembre 2018) : 14. http://dx.doi.org/10.7748/ldp.21.6.14.s17.

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McCandless, Shawn E. « Prader-Willi Syndrome ». NeoReviews 6, n^o 12 (décembre 2005) : e559-e566. http://dx.doi.org/10.1542/neo.6-12-e559.

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Ward, O. Conor. « Prader-Willi syndrome ». Lancet 356, n^o 9244 (novembre 2000) : 1856. http://dx.doi.org/10.1016/s0140-6736(05)73324-9.

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Cassidy, Suzanne B., et David H. Ledbetter. « Prader-Willi Syndrome ». Neurologic Clinics 7, n^o 1 (février 1989) : 37–54. http://dx.doi.org/10.1016/s0733-8619(18)30827-2.

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Kundert, Deborah King. « Prader-Willi syndrome. » School Psychology Quarterly 23, n^o 2 (juin 2008) : 246–57. http://dx.doi.org/10.1037/1045-3830.23.2.246.

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Couper, RTL, et JJ Couper. « Prader-Willi syndrome ». Lancet 356, n^o 9230 (août 2000) : 673–75. http://dx.doi.org/10.1016/s0140-6736(00)02617-9.

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Harris, Rebecca M., et Diane E. J. Stafford. « Prader Willi syndrome ». Current Opinion in Endocrinology & ; Diabetes and Obesity 27, n^o 1 (février 2020) : 56–62. http://dx.doi.org/10.1097/med.0000000000000517.

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Thèses sur le sujet "Prader"

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Boer, Gezinus Harm. « Behavioural studies in Prader-Willi Syndrome ». [Maastricht] : Maastricht : UPM, Universitaire Pers Maastricht ; University Library, Maastricht University [Host], 2004. http://arno.unimaas.nl/show.cgi?fid=7679.

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Bull, Leah Elizabeth. « Understanding and changing behaviour in Prader-Willi syndrome ». Thesis, University of Birmingham, 2014. http://etheses.bham.ac.uk//id/eprint/5037/.

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The thesis reviewed evidence of the behavioural characteristics associated with Prader-Willi syndrome (PWS) and how cross-sectional data has suggested that these may change with age, with a view to informing potential avenues and timescales for behavioural intervention. One highly plausible avenue identified that may be targeted for intervention arises from the finding that temper outbursts caused by change to routine or expectation are common within PWS. Longitudinal data collected over an eight year period explored changes in behaviour with age in people with PWS, finding that several phenotypic behaviours appear to peak around adolescence and decline in adulthood. In the remaining empirical studies, possible pathways to interventions to reduce temper outbursts in people with PWS were explored. It was shown that as someone has been exposed to a routine for longer they show more behavioural difficulties and higher arousal following a change. These data demonstrate potential utility for development of early interventions. An informant reported behaviour diary was validated and used to evaluate a stimulus control intervention to reduce temper outbursts. This intervention reduced temper outburst behaviour following specific changes as evidenced by structured observations, and reduced the number of temper outbursts shown in daily life by most participants.

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Purmann, Carolin. « The role of SNORD116 in Prader-Willi syndrome ». Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610424.

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Ferreira, Sandra Guillot François. « Le syndrome de Willi-Prader ses caractéristiques, sa prise en charge et son suivi / ». Créteil : Université de Paris-Val-de-Marne, 2005. http://doxa.scd.univ-paris12.fr:80/theses/th0233573.pdf.

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Dunne, Cheryl Kelly. « Phonology in Prader-Willi syndrome : An optimality theory account ». Thesis, University of Ulster, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.526966.

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Bull, Leah Elizabeth. « Self-injurious behaviour in people with Prader-Willi syndrome ». Thesis, University of Birmingham, 2015. http://etheses.bham.ac.uk//id/eprint/6147/.

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Volume one contains a systematic literature review, an empirical chapter and a public domain briefing. The review explored the phenomenology of skin picking (a self-injurious behaviour) in people with Prader-Willi syndrome (PWS). A number of characteristics were well described with some areas of limited research, e.g. frequency and duration. Skin picking in people with PWS and in the typically developing population was compared showing that there were more similarities than differences. The empirical chapter further explored the phenomenology of skin picking in people with PWS and associated management techniques by using a semi-structured interview. Informants reported on the age of onset, frequency and duration of skin picking, type of skin picked, damage caused, antecedents and the influence of pain. The most common management strategy used by parents and carers was distraction and the majority of participants with PWS did not have their own management strategy to try to reduce skin picking. Results of both chapters are discussed within the context of previous research and the clinical implications are considered. Volume two contains five clinical practice reports conducted at various mental health services; a models essay, a service evaluation, a single case experimental design and two case studies.

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Massiot, Hélène. « Syndrome de Prader-Willi : à propos de deux observations et étude génétique ». Bordeaux 2, 1995. http://www.theses.fr/1995BOR2M035.

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Relkovic, Dinko. « Behavioural characterization of a mouse model for Prader-Willi syndrome ». Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.608625.

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Nunes, Jessica. « "Finns det några vardagshjältar är det alla som lever varje dag med PWS" : En kvalitativ studie om vårdares upplevelser kring kost och autonomi hos vuxna med Prader-Willis syndrom ». Thesis, Umeå universitet, Institutionen för kostvetenskap, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-111306.

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Bakgrund Prader-Willis syndrom (PWS) är en genetisk mutation och drabbar cirka 8-10 barn per år i Sverige. Personer med syndromet upplever en ständig hunger och har en tvångsmässig relation till mat, samtidigt som de har ett lågt energibehov. Drabbade personer löper stor risk för fetma och behöver en diet med kalorirestriktion samt mycket fysisk aktivitet, och personer med PWS behöver ständig tillsyn av vårdare och anhöriga. Eftersom PWS är komplext med flertalet svårigheter är det angeläget att utforska hur vårdare upplever sitt arbete med vuxna som har PWS. Syfte Att undersöka hur vårdare upplever att arbeta med vuxna med PWS när det kommer till kosten, hälsoförebyggande åtgärder samt de boendes autonomi. Metod Fem semi-strukturerade intervjuer genomfördes med vårdare på ett boende i Sverige för vuxna med PWS. Intervjuerna spelades in digitalt via mobiltelefon och transkriberades sedan ordagrant. Data analyserades med kvalitativ innehållsanalys och meningsbärande enheter skapade koder och kategorier som sedan formade rubriker till resultatet. Resultat Informanterna upplevde stort ansvar kring de boendes liv och hade hand om allt kring exempelvis kost och ekonomi. De upplevde att mat utgjorde grunden till flertalet konflikter som ofta ledde till aggressivitet och känslomässiga reaktioner hos de boende. De upplevde även ett dilemma mellan att värna om de boendes hälsa och att uppmuntra till deras självbestämmande. Motion och aktiviteter var något som prioriterades högt på boendet. Slutsats Vårdarna upplevde flertalet svårigheter när det kom till kost och kände ett stort ansvar för de boende. Att finna balans mellan att värna om de boendes hälsa och självbestämmande var ett gemensamt problem. Samtliga ansåg att boendet arbetade aktivt med hälsoförebyggande åtgärder och att de boende fick goda möjligheter till motion och aktivitet.
Background Prader-Willi syndrome (PWS) is a genetic mutation which affects around 8-10 children each year in Sweden. People with this syndrome experience constant hunger and have an obsessive relationship with food, moreover, they also have a lower energy requirement. People with PWS run the risk of becoming obese and are in need of a diet that restricts the caloric intake, they also need increased physical activity. People with PWS are in need of constant surveillance from caregivers. Since PWS is complex with multiple issues it is of interest to explore how caregivers experience their work with adults with PWS. Objective To explore how caregivers experience working with adults with PWS when it comes to food and physical activity, as well as their residents’ autonomy. Method Five semi structured interviews were conducted with caregivers at a group home in Sweden for adults with PWS. The interviews were recorded digitally using a mobile phone and then transcribed. The data was analysed using qualitative content analysis and meaning units created codes and categories which then formed the headlines of the result section. Result The caregivers experienced great responsibility for the residents and took care of everything from their food to their economy. They felt that food was the basis of many conflicts which often could result in aggression and emotional outbursts. They also experienced a dilemma between caring for the residents’ health and encouraging their autonomy. Physical exercise and activities was a priority at the group home. Conclusion The caregivers experienced numerous difficulties when it came to food and felt great responsibility for the residents. To find a balance between caring for the residents’ health and autonomy was a common problem. All informants felt that the group home worked with health promoting measures and that the residents got a lot of exercise and activity.

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Lindgren, Ann Christin. « Prader-Willi syndrome : diagnosis and effects of growth hormone treatment / ». Stockholm, 1998. http://diss.kib.ki.se/1998/91-628-3135-6/.

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Livres sur le sujet "Prader"

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Cassidy, Suzanne B., dir. Prader-Willi Syndrome. Berlin, Heidelberg : Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-84283-2.

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Caldwell, Mary Lou, et Ronald L. Taylor, dir. Prader-Willi Syndrome. New York, NY : Springer New York, 1988. http://dx.doi.org/10.1007/978-1-4612-3854-6.

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Greenswag, Louise R., et Randell C. Alexander, dir. Management of Prader-Willi Syndrome. New York, NY : Springer US, 1988. http://dx.doi.org/10.1007/978-1-4684-0316-9.

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Butler, Merlin G., Phillip D. K. Lee et Barbara Y. Whitman, dir. Management of Prader-Willi Syndrome. New York, NY : Springer New York, 2006. http://dx.doi.org/10.1007/978-0-387-33536-0.

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Greenswag, Louise R., et Randell C. Alexander, dir. Management of Prader-Willi Syndrome. New York, NY : Springer US, 1995. http://dx.doi.org/10.1007/978-1-4615-7384-5.

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Prader-Willi Syndrome : A practical guide. London : David Fulton, 1999.

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Waters, Jackie. Prader Willi syndrome and the younger person. Abbots Langley, Herts : Prader-Willi Syndrome Association (UK), 1992.

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James, Terrance N. Prader-Willi syndrome : Home, school and communities. London : Chapman and Hall, 1992.

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Lindgren, Ann Christin. Prader-Willi syndrome : Diagnosis and effects of growth hormone treatment. Stockholm : Repro Print AB, 1998.

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Gellatly, Margaret. Food and health. Abbots Langley : Prader-Willi Syndrome Association UK, 1996.

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Chapitres de livres sur le sujet "Prader"

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Bettendorf, Gerhard. « Prader, Andrea ». Dans Zur Geschichte der Endokrinologie und Reproduktionsmedizin, 445–46. Berlin, Heidelberg : Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-642-79152-9_180.

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Gilbert, Patricia. « Prader-Willi syndrome ». Dans The A-Z Reference Book of Syndromes and Inherited Disorders, 236–39. Boston, MA : Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_62.

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Waters, J. « Prader — Willi Syndrome ». Dans Profound Retardation and Multiple Impairment, 54–67. Boston, MA : Springer US, 1987. http://dx.doi.org/10.1007/978-1-4899-7146-3_4.

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Phelps, Brady I. « Prader-Willi Syndrome ». Dans Encyclopedia of Child Behavior and Development, 1137–38. Boston, MA : Springer US, 2011. http://dx.doi.org/10.1007/978-0-387-79061-9_2208.

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Cassidy, Suzanne B., et Shawn E. McCandless. « Prader-Willi Syndrome ». Dans Management of Genetic Syndromes, 625–50. Hoboken, NJ, USA : John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470893159.ch42.

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Eltorai, Ibrahim M. « Prader-Willi Syndrome ». Dans Rare Diseases and Syndromes of the Spinal Cord, 63–64. Cham : Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-45147-3_22.

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Kaltofen, Heike, Uta Emmig, Dierk A. Vagts et Peter Biro. « Prader-Willi-Syndrom ». Dans Anästhesie bei seltenen Erkrankungen, 1–4. Berlin, Heidelberg : Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-44368-2_32-1.

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Daniel, Linda L., et Betty E. Gridley. « Prader-Willi syndrome. » Dans Health-related disorders in children and adolescents : A guidebook for understanding and educating., 534–40. Washington : American Psychological Association, 1998. http://dx.doi.org/10.1037/10300-075.

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Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber et al. « Prader-Willi Syndrome ». Dans Encyclopedia of Molecular Mechanisms of Disease, 1708–9. Berlin, Heidelberg : Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1449.

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Chen, Harold. « Prader-Willi Syndrome ». Dans Atlas of Genetic Diagnosis and Counseling, 2365–82. New York, NY : Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_196.

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Actes de conférences sur le sujet "Prader"

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da Silva, Ana, Maria de Oliveira, Maria Costa, Edson Pontes, Ana Silva, Ivanildo Júnior, Nathália de Freitas Penaforte, Thayná Santos, Mayana de Moura et Laryssa Melo. « Influência da Alimentação na Síndrome de Prader Willi ». Dans XXI I Congresso Brasileiro de Nutrologia. Thieme Revinter Publicações Ltda, 2018. http://dx.doi.org/10.1055/s-0038-1674766.

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Negro, Valentina, Nicola Bridges, Andrew Bush, Renato Cutrera et Hui-leng Tan. « Respiratory complications of children with Prader-Willi syndrome ». Dans ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa4359.

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Neophytou, GI, M. Frixou, MG Shaikh et A. Kyriakou. « G220 Changing patterns of growth in prader-willi syndrome ». Dans Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference, 13–15 March 2018, SEC, Glasgow, Children First – Ethics, Morality and Advocacy in Childhood, The Journal of the Royal College of Paediatrics and Child Health. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2018. http://dx.doi.org/10.1136/archdischild-2018-rcpch.215.

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Meade, Christina, Ruth Martin, Ann McCrann, Jacqueline Lyons et Edna Roche. « GP215 Growth and nutritional status in children with prader willi syndrome ». Dans Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.274.

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da Silva, Ana, Maria Costa, Edson Pontes, Maria de Oliveira, Ana Silva, Ivanildo Domingos Júnior, Nathália de Freitas Penaforte, Mayana de Moura, Thayná Santos et Laryssa Melo. « Controle da Compulsão Alimentar em Adolescentes com Síndrome de Prader Willi ». Dans XXI I Congresso Brasileiro de Nutrologia. Thieme Revinter Publicações Ltda, 2018. http://dx.doi.org/10.1055/s-0038-1674566.

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Braz, Washington, Francisco Filho, Leonardo Tavares et Mário da Nobrega. « Aspectos Terapêuticos na Síndrome de Prader-Willi E Obesidade : uma Revisão Sistemática ». Dans XXI I Congresso Brasileiro de Nutrologia. Thieme Revinter Publicações Ltda, 2018. http://dx.doi.org/10.1055/s-0038-1674420.

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Nawaz, Faisal, Nasima Ali et Monzur Ahmed. « PTH-072 Endoscopic management of phytobezoar in patient with prader-willi syndrome ». Dans British Society of Gastroenterology Annual Meeting, 17–20 June 2019, Abstracts. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2019. http://dx.doi.org/10.1136/gutjnl-2019-bsgabstracts.97.

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Mendes Lopes, Sonia, Maria Regina Tinoco Menezes de Oliveira et Ediclea Mascarenhas Fernandes. « FAMILIAS DE PESSOAS COM PRADER WILLI E OS PLANOS DE ENSINO INDIVIDUALIZADO ». Dans Congresso Brasileiro de Educação Especial. Campinas - SP, Brazil : Galoa, 2014. http://dx.doi.org/10.17648/galoa-cbee-6-29717.

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Mendes Lopes, Sônia, Edicléa Mascarenhas Fernandes et Maria Regina Tinoco Menezes de Oliveira. « FAMÍLIAS DE PESSOAS COM PRADER WILLI E OS PLANOS DE ENSINO INDIVIDUALIZADOS ». Dans Congresso Brasileiro de Educação Especial. Campinas - SP, Brazil : Galoa, 2014. http://dx.doi.org/10.17648/galoa-cbee-6-30164.

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Gardener, Laura, N. Ghosh, R. Pabary, N. Bridges, F. Trucco, H. Tan et Ruth O’Reilly. « 48 Characteristics of initial sleep study in infants with Prader Willi Syndrome ». Dans BSS Scientific Conference 2021 abstracts book. British Thoracic Society, 2021. http://dx.doi.org/10.1136/bmjresp-2021-bssconf.42.

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Rapports d'organisations sur le sujet "Prader"

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Rubin, Daniela A., daniel A. Judelson, Daniel J. Driscoll, Michelle Moutappa et Jie Weiss. Nutritional and Exercise Aspects of Prader-Willi Syndrome and Childhood Obesity. Fort Belvoir, VA : Defense Technical Information Center, février 2013. http://dx.doi.org/10.21236/ada585349.

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Morgan, H. S., et R. D. Krieg. Updated Drucker-Prager Constants for Anhydrite and Polyhalite. Office of Scientific and Technical Information (OSTI), avril 2016. http://dx.doi.org/10.2172/1561465.

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Bhati, J. P. Development Strategies In Himachal Pradesh. Kathmandu, Nepal : International Centre for Integrated Mountain Development (ICIMOD), 1990. http://dx.doi.org/10.53055/icimod.53.

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Wadhwani, Vishakha, Samuel Scott, S. K. Singh, Rakesh Sarwal, Neena Bhatia, Robert Johnston, William Joe, Purnima Menon et Phuong Hong Nguyen. State nutrition profile : Andhra Pradesh. Washington, DC : International Food Policy Research Institute, 2021. http://dx.doi.org/10.2499/p15738coll2.134605.

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Christopher, Anita, Rasmi Avula, S. K. Singh, Rakesh Sarwal, Neena Bhatia, Robert Johnston, William Joe, Esha Sarswat, Purnima Menon et Phuong Hong Nguyen. State nutrition profile : Himachal Pradesh. Washington, DC : International Food Policy Research Institute, 2021. http://dx.doi.org/10.2499/p15738coll2.134608.

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Bhati, J. P. Development Strategies In Himachal Pradesh. Kathmandu, Nepal : International Centre for Integrated Mountain Development (ICIMOD), 1990. http://dx.doi.org/10.53055/icimod.53.

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Gune, Soyra, Phuong Hong Nguyen, S. K. Singh, Rakesh Sarwal, Neena Bhatia, Robert Johnston, William Joe, Esha Sarswat et Purnima Menon. State nutrition profile : Uttar Pradesh. New Delhi, India : International Food Policy Research Institute, 2022. http://dx.doi.org/10.2499/p15738coll2.135193.

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Gune, Soyra, Samuel Scott, Sudhir K. Singh, Rakesh Sarwal, Neena Bhatia, Robert Johnston, William Joe, Purnima Menon et Phuong Hong Nguyen. State nutrition profile : Andhra Pradesh. New Delhi, India : International Food Policy Research Institute, 2022. http://dx.doi.org/10.2499/p15738coll2.135834.

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Pant, Anjali, Sudhir K. Singh, Rakesh Sarwal, Neena Bhatia, Robert Johnston, William Joe, Purnima Menon et Phuong Hong Nguyen. State nutrition profile : Arunachal Pradesh. New Delhi, India : International Food Policy Research Institute, 2022. http://dx.doi.org/10.2499/p15738coll2.135836.

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Ray, Soumyajit, Sudhir K. Singh, Rakesh Sarwal, Neena Bhatia, Robert Johnston, William Joe, Esha Sarswat, Purnima Menon et Phuong Hong Nguyen. State nutrition profile : Madhya Pradesh. New Delhi, India : International Food Policy Research Institute, 2022. http://dx.doi.org/10.2499/p15738coll2.135851.

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