Zobrazeno 1 - 10 of 29 pro vyhledávání: '"Marta, Arpone"'
1
Akademický článek
WHO standards-based tools to measure service providers’ and service users’ views on the quality of hospital child care: development and validation in Italy
Autor: Egidio Barbi, Marta Arpone, Silvia Bressan, Marzia Lazzerini, Emanuelle Pessa Valente, Paola Cogo, Federico Marchetti, Giorgio Cozzi, Francesco Tagliaferri, Ilaria Mariani, Valentina Baltag, Francesca Peri, Ilaria Liguoro, Chiara Stefani, Claudio Germani, Silvana Schreiber, Stefano Martelossi, Angelika Velkoski, Alessandro Amaddeo, Alessia Marcellino, Riccardo Lubrano, Moise Muzigaba, Tereza Rebecca de Melo e Lima, Enrico Felici, Annunziata Lucarelli, Gian Luca Trobia, Daniela Nisticò, Wilson Milton Were, Elia Balestra, Benmario Castaldo, Alice Del Colle, De Monte Roberta Coordinatrice, Tamara Strajn Coordinatrice, Livia Bicego, Andrea Cassone, Chiara Pilotto, Lisa Stavro, Paola Moras, Marcella Massarotto, Paola Crotti, Benedetta Ferro, Riccardo Pavanello, Silvia Fasoli, Pelazza Carolina, Marta Coppola, Chiara Grisaffi, Elisabetta Mingoia, Idanna Sforzi, Rosa Santangelo, Andrea Iuorio, Sara Dal Bo, Vanessa Martucci, Mariateresa Sanseviero, Bloise Silvia, Eleonora Canzio, Roberta Parrino, Salvatore Gambino, Melania Guardino, Luca Lagalla, Beatrice Vaccaro, Giuseppina de Rosa, Vita Antonella Di Stefano, Francesca Patané
Publikováno v: BMJ Open, Vol 12, Iss 3 (2022)
Objectives Evidence showed that, even in high-income countries, children and adolescents may not receive high quality of care (QOC). We describe the development and initial validation, in Italy, of two WHO standards-based questionnaires to conduct an
Externí odkaz: https://doaj.org/article/15aedc83af294dbf8ff4bde602687e65
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2
Akademický článek
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
Autor: Emma K. Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M. Kraan, Minh Bui, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael J. Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promot
Externí odkaz: https://doaj.org/article/e05c1a167cbd4ce9a6910a82c9dd4958
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3
Akademický článek
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
Autor: Emma K. Baker, Marta Arpone, Solange M. Aliaga, Lesley Bretherton, Claudine M. Kraan, Minh Bui, Howard R. Slater, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael Field, Jonathan Cohen, Kim Cornish, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v: Molecular Autism, Vol 10, Iss 1, Pp 1-13 (2019)
Abstract Background Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed
Externí odkaz: https://doaj.org/article/c8c8fc51efc34be5844911b0781f350c
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4
Akademický článek
PediAppRREST: effectiveness of an interactive cognitive support tablet app in reducing deviations from guidelines in the management of paediatric cardiac arrest: protocol for a simulation-based randomised controlled trial
Autor: Marta Arpone, Silvia Bressan, Liviana Da Dalt, Pier Luigi Ingrassia, Adam Cheng, Deborah Snijders, Anna Chiara Frigo, Valentina Stritoni, Francesco Corazza, Marco De Luca, Luca Tortorolo
Publikováno v: BMJ Open, Vol 11, Iss 7 (2021)
Introduction Paediatric cardiac arrest (PCA), despite its low incidence, has a high mortality. Its management is complex and deviations from guideline recommendations occur frequently. We developed a new interactive tablet app, named PediAppRREST, to
Externí odkaz: https://doaj.org/article/0d7ef4655a7d46e19370570fa7ba9501
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6
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
Autor: Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v: American journal of medical genetics. Part AREFERENCES.
Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active-unmethylated alleles has prognostic uti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe1aad712bb4a2e2b8f25fd39879e43
https://pubmed.ncbi.nlm.nih.gov/36349505
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7
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders
Autor: Marta Arpone, Lesley Bretherton, David J. Amor, Stephen J.C. Hearps, Carolyn Rogers, Michael J. Field, Matthew F. Hunter, Lorena Santa Maria, Angelica M. Alliende, Jennie Slee, David E. Godler, Emma K. Baker
Publikováno v: Research in developmental disabilities. 131
Despite the increasing number of clinical trials involving children with neurodevelopmental disorders, appropriate and objective outcome measures for behavioral symptoms are still required.This study assessed the agreement between parents' and clinic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce9683cc5d509ae1dc1b3da2f8e15d6
https://pubmed.ncbi.nlm.nih.gov/36179574
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8
The impact of cognitive aids on resuscitation performance in in-hospital cardiac arrest scenarios: a systematic review and meta-analysis
Autor: Francesco Corazza, Elena Fiorese, Marta Arpone, Giacomo Tardini, Anna Chiara Frigo, Adam Cheng, Liviana Da Dalt, Silvia Bressan
Publikováno v: Internal and emergency medicine. 17(7)
Different cognitive aids have been recently developed to support the management of cardiac arrest, however, their effectiveness remains barely investigated. We aimed to assess whether clinicians using any cognitive aids compared to no or alternative
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3da75a09d8ed9f78fb6df20d72c26b47
https://pubmed.ncbi.nlm.nih.gov/36031672
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9
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
Autor: Solange Aliaga Vera, Emma Baker, Víctor Faundes, Michael Field, Matthew F. Hunter, Minh Bui, Bianca Curotto, Isabel Salas, Ling Ling, Jonathan Cohen, Angelica M. Alliende, Lorena Santa María, Justine Elliott, Marta Arpone, Claudine Kraan, Alexandra Ure, Cesar Trigo, David J. Amor, David E. Godler, Carolyn Rogers, David Francis, Paulina Morales, Lesley Bretherton
Publikováno v: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-15 (2019)
Journal of Neurodevelopmental Disorders
BackgroundFragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of theFMR1promoter and silen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06fb46f1ee7d1f6a9a60724f73700ec8
https://doaj.org/article/e05c1a167cbd4ce9a6910a82c9dd4958
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