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8. Corrigendum to “Parents' and nurses' affective perception of a pictorial intervention in a pediatric hospital environment: Quasi-experimental design pre-post-testing” [Journal of Pediatric Nursing 77 (2024) 89–95]

Author

Godino, Lea, primary, La Malfa, Elisa, additional, Ricco, Mattia, additional, Mancin, Stefano, additional, Ambrosi, Elisa, additional, De Rosa, Manuela, additional, Martelli, Barbara, additional, Lepore, Virginia, additional, El Mouttaqi, Latifa, additional, Cinocca, Sergio, additional, Lanari, Marcello, additional, and Gazineo, Domenica, additional

Published
2024
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11. Presymptomatic testing for familial cancer syndromes in young adults : considerations, decision making and impact

Author

Godino, Lea

Subjects
616.99, genetic counselling, young adults, presymptomatic genetic test, mixed-methods
Abstract

Background: Presymptomatic genetic testing should always involve a considered choice. Young adults are at a key life stage as they may be developing a career, forming partnerships and potentially becoming parents. Presymptomatic testing may therefore affect the future lives of consultands significantly when testing is undertaken in early adulthood. Aim: To explore presymptomatic testing for hereditary cancer in consultands aged 18-30 years with particular reference to psychosocial impact, the decision-making process and the consequent counselling needs. Methods: A mixed-methods sequential exploratory design was used, comprising a systematic review, a qualitative study and a quantitative study. Results of all phases were used to build a theoretical model regarding the process of presymptomatic testing in young adults. Findings: The systematic review indicated that many participants grew-up with little or no information concerning their genetic risk. The experience of genetic counselling was either reported as an opportunity for discussing problems or associated with feelings of disempowerment. Parents appeared to have exerted pressure on their children during the decision-making process. However, as a result of the qualitative study, the influence of other people and the decision-making process prior to counselling were identified as key factors. Further results from the quantitative phase underlined that parents felt they had control over the decisions their children made, while the majority of the young adults reported the request for the genetic test as their own decision. A new theoretical model of decision making and impact on young adults was built to synthesise the overarching experience of participants in this research project. Conclusion: Counselling approaches to this population may require modification both for young adults and their parents. Young adults may benefit from a multi-step approach to presymptomatic testing. Parents need to be more informed that genetic counselling is a forum where information can be obtained and young adults can talk about the testing decision, regardless of whether they want to be tested or not. The traditional ‘wait until they come to us’ approach by health services may be failing to meet the educational and emotional needs of this population.

Published
2017

17. Moral injury in a global health emergency: a validation study of the Italian version of the Moral Injury Events Scale adjusted to the healthcare setting

Author

Fino, Edita, primary, Daniels, Judith K., additional, Micheli, Giulia, additional, Gazineo, Domenica, additional, Godino, Lea, additional, Imbriaco, Guglielmo, additional, Antognoli, Marco, additional, Sist, Luisa, additional, Regnano, Domenico, additional, Decaro, Roberta, additional, Guberti, Monica, additional, and Mazzetti, Michela, additional

Published
2023
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22. Efficacy of very low-calorie ketogenic diet with the Pronokal® method in obese women with polycystic ovary syndrome: a 16-week randomized controlled trial

Author

Pandurevic, Srdjan, primary, Mancini, Ilaria, additional, Mitselman, Dimitri, additional, Magagnoli, Matteo, additional, Teglia, Rita, additional, Fazzeri, Roberta, additional, Dionese, Paola, additional, Cecchetti, Carolina, additional, Caprio, Massimiliano, additional, Moretti, Constanzo, additional, Sicinska, Justyna, additional, Agostini, Alessandro, additional, Gazineo, Domenica, additional, Godino, Lea, additional, Sajoux, Ignacio, additional, Fanelli, Flaminia, additional, Meriggiola, Cristina M, additional, Pagotto, Uberto, additional, and Gambineri, Alessandra, additional

Published
2023
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25. Characterization of BRCA Deficiency in Ovarian Cancer

Author

Barbero, Giovanna, primary, Zuntini, Roberta, additional, Magini, Pamela, additional, Desiderio, Laura, additional, Bonaguro, Michela, additional, Perrone, Anna Myriam, additional, Rubino, Daniela, additional, Grippa, Mina, additional, De Leo, Antonio, additional, Ceccarelli, Claudio, additional, Godino, Lea, additional, Miccoli, Sara, additional, Ferrari, Simona, additional, Santini, Donatella, additional, De Iaco, Pierandrea, additional, Zamagni, Claudio, additional, Innella, Giovanni, additional, and Turchetti, Daniela, additional

Published
2023
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30. Efficacy of very low calorie ketogenic diet in obese PCOS: a randomized controlled study

Author

Pandurevic, Srdjan, primary, Dionese, Paola, additional, Mancini, Ilaria, additional, Mitselman, Dmitri, additional, Magagnoli, Matteo, additional, Teglia, Rita, additional, Gazineo, Domenica, additional, Godino, Lea, additional, Fanelli, Flaminia, additional, Cristina, Meriggiola Maria, additional, Pagotto, Uberto, additional, and Gambineri, Alessandra, additional

Published
2022
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32. Factors predicting BRCA1/2pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis

Author

Innella, Giovanni, Godino, Lea, Erini, Giulia, De Leo, Antonio, Santini, Donatella, Perrone, Anna Myriam, De Iaco, Pierandrea, Zamagni, Claudio, and Turchetti, Daniela

Abstract

AimTo provide accurate figures of the frequency of specific clinical features in ovarian cancer (OC) associated with germline BRCA1/2pathogenic variants and to define their relevance in predicting the presence of a germline pathogenic variant in these genes.MethodsA systematic review of papers published from 1995 to February 2022 was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Data from eligible papers were synthesised through meta-analysis.ResultsThirty-seven papers were reviewed, including a total of 12 886 patients with OC. Among BRCAcarriers, 86.4% displayed serous type, 83.3% high grade (G3), 83.7% FIGO (The International Federation of Gynecology and Obstetrics) stage III/IV, 39.7% age at diagnosis ≤50 years and 18.1% personal breast cancer history, while the frequency of these features in non-carriers resulted significantly lower (p<0.001). The meta-analysis showed that the strongest predictor of BRCA1/2pathogenic variants was a personal breast cancer history (OR 5.21, 95% CI 4.02 to 6.55, compared with no previous breast cancer), followed by high grade (OR 2.47, 95% CI 1.97 to 3.10, compared with low/intermediate grade), serous histotype (OR 2.33, 95% CI 2.07 to 2.64, compared with other histotypes), advanced (III/IV) FIGO stage (OR 1.89, 95% CI 1.67 to 2.15, compared with stage I/II) and age at diagnosis ≤50 years (OR 1.20, 95% CI 1.01 to 1.42, compared with >50 years).ConclusionThe results of this meta-analysis provide data on features increasing the prior probability of finding BRCA1/2pathogenic variants that may prove helpful in counselling patients and prioritising testing.PROSPERO registration numberCRD42021271815.

Published
2023
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34. Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

Author

Di Pietro, Maria Luisa, Zace, Drieda, Orfino, Alessia, Romana Di Raimo, Francesca, Poscia, Andrea, De Matteis, Elisabetta, Turchetti, Daniela, Godino, Lea, Bertonazzi, Benedetta, Franiuk, Marzena, Bruzzone, Carla, Varesco, Liliana, Lucci Cordisco, Emanuela, Genuardi, Maurizio, Maria Luisa Di Pietro (ORCID:0000-0002-3893-8788), Drieda Zace, Andrea Poscia (ORCID:0000-0002-7616-3389), Elisabetta de Matteis, Emanuela Lucci-Cordisco (ORCID:0000-0002-6279-7604), Maurizio Genuardi (ORCID:0000-0002-7410-8351), Di Pietro, Maria Luisa, Zace, Drieda, Orfino, Alessia, Romana Di Raimo, Francesca, Poscia, Andrea, De Matteis, Elisabetta, Turchetti, Daniela, Godino, Lea, Bertonazzi, Benedetta, Franiuk, Marzena, Bruzzone, Carla, Varesco, Liliana, Lucci Cordisco, Emanuela, Genuardi, Maurizio, Maria Luisa Di Pietro (ORCID:0000-0002-3893-8788), Drieda Zace, Andrea Poscia (ORCID:0000-0002-7616-3389), Elisabetta de Matteis, Emanuela Lucci-Cordisco (ORCID:0000-0002-6279-7604), and Maurizio Genuardi (ORCID:0000-0002-7410-8351)

Abstract

Genomic testing expansion is accompanied by an increasing need for genetic counselling and intrafamilial communication. Genetic counselling can play an important role in facilitating intrafamilial communication and relationships. We conducted a cross-sectional, multicenter study including 252 Italian women, using a questionnaire divided in two sections, the first one to be filled after the pre-test counselling and the second after receiving BRCA test results. We assessed the factors influencing intrafamilial disclosure of genetic information for hereditary breast and ovarian cancer, family members with whom probands are more prone to share genetic information, and the perceived understanding of information received by counselees during genetic counselling. Women were accompanied to the counselling more often by their husband/partner. Among those with a positive BRCA test result, 49% intended to communicate it to their offspring and 27% to their husband/ partner. Younger women, those living with their husband/partner, and those who described family communication as open/ profound and spontaneous/sincere had a higher probability of being accompanied during genetic counselling and discuss about it with relatives. Spontaneous/sincere or open/profound family communication and joyful/happy familial relationships were associated with the decision to undergo genetic testing as a responsibility towards relatives. Women had a good understanding of counselling contents (mean score 9.27 in a scale 1–10). Genetic counselling providers should consider that genetic information disclosure does not depend only on the clarity of the information provided, but also on pre-existing intrafamilial communication and relationships, family structure and marital status, indicating the need for a personalised approach accounting for these factors.

Published
2020

39. Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance

Author

Innella, Giovanni, primary, Rossi, Cesare, additional, Romagnoli, Maria, additional, Repaci, Andrea, additional, Bianchi, Davide, additional, Cantarini, Maria Elena, additional, Martorana, Davide, additional, Godino, Lea, additional, Pession, Andrea, additional, Percesepe, Antonio, additional, Pagotto, Uberto, additional, and Turchetti, Daniela, additional

Published
2020
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41. An Analysis of Clinical, Surgical, Pathological and Molecular Characteristics of Endometrial Cancer According to Mismatch Repair Status. A Multidisciplinary Approach

Author

Dondi, Giulia, primary, Coluccelli, Sara, additional, De Leo, Antonio, additional, Ferrari, Simona, additional, Gruppioni, Elisa, additional, Bovicelli, Alessandro, additional, Godino, Lea, additional, Coadă, Camelia Alexandra, additional, Morganti, Alessio Giuseppe, additional, Giordano, Antonio, additional, Santini, Donatella, additional, Ceccarelli, Claudio, additional, Turchetti, Daniela, additional, De Iaco, Pierandrea, additional, and Perrone, Anna Myriam, additional

Published
2020
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42. Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

Author

Di Pietro, Maria Luisa, primary, Zaçe, Drieda, additional, Orfino, Alessia, additional, Di Raimo, Francesca Romana, additional, Poscia, Andrea, additional, de Matteis, Elisabetta, additional, Turchetti, Daniela, additional, Godino, Lea, additional, Bertonazzi, Benedetta, additional, Franiuk, Marzena, additional, Bruzzone, Carla, additional, Varesco, Liliana, additional, Lucci-Cordisco, Emanuela, additional, and Genuardi, Maurizio, additional

Published
2020
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43. Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

Author

Di Pietro, Maria Luisa, primary, Zaçe, Drieda, additional, Orfino, Alessia, additional, Di Raimo, Francesca Romana, additional, Poscia, Andrea, additional, de Matteis, Elisabetta, additional, Turchetti, Daniela, additional, Godino, Lea, additional, Bertonazzi, Benedetta, additional, Franiuk, Marzena, additional, Bruzzone, Carla, additional, Varesco, Liliana, additional, Lucci-Cordisco, Emanuela, additional, and Genuardi, Maurizio, additional

Published
2020
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45. A regional population‐based hereditary breast cancer screening tool in Italy: First 5‐year results

Author

Cortesi, Laura, primary, Baldassarri, Bruna, additional, Ferretti, Stefano, additional, Razzaboni, Elisabetta, additional, Bella, Mariangela, additional, Bucchi, Lauro, additional, Canuti, Debora, additional, De Iaco, Pierandrea, additional, De Santis, Giorgio, additional, Falcini, Fabio, additional, Galli, Vania, additional, Godino, Lea, additional, Leoni, Maurizio, additional, Perrone, Anna Myriam, additional, Pignatti, Marco, additional, Saguatti, Gianni, additional, Santini, Donatella, additional, Sassoli de'Bianchi, Priscilla, additional, Sebastiani, Federica, additional, Taffurelli, Mario, additional, Tazzioli, Giovanni, additional, Turchetti, Daniela, additional, Zamagni, Claudio, additional, and Naldoni, Carlo, additional

Published
2020
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46. Correction:The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages (Genetics in Medicine, (2019), 21, 3, (718-726), 10.1038/s41436-018-0132-3)

Author

Jackson, Leigh, O’Connor, Anita, Paneque, Milena, Curtisova, Vaclava, Lunt, Peter W., Pourova, Radka Kremlíková, MacekJr, Milan, Stefansdottir, Vigdis, Turchetti, Daniela, Campos, Mariana, Henneman, Lidewij, Godino, Lea, Skirton, Heather, and Cornel, Martina C.

Abstract

This Article was originally published under Nature Research’s License to Publish, but has now been made available under a [CC BY 4.0] license. The PDF and HTML versions of the Article have been modified accordingly.

Published
2019
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47. Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing.

Author

Godino, Lea, Varesco, Liliana, Bruno, William, Bruzzone, Carla, Battistuzzi, Linda, Franiuk, Marzena, Miccoli, Sara, Bertonazzi, Benedetta, Graziano, Claudio, Seri, Marco, and Turchetti, Daniela

Abstract

Exome/genome sequencing (ES/GS) is increasingly becoming routine in clinical genetic diagnosis, yet issues regarding how to disclose and manage secondary findings (SFs) remain to be addressed, and limited evidence is available on patients' preferences. We carried out semi‐structured interviews with 307 individuals undergoing clinical genetic testing to explore their preferences for return of SFs in the hypothetical scenario that their test would be performed using ES/GS. Participants were 254 females (82.7%) and 53 males (17.3%), aged 18–86 years; 73.9% (81.1% of those with lower education levels) reported no prior knowledge of ES/GS. Prior knowledge of ES/GS was more common among patients tested for Mendelian conditions (34.5%), compared to those undergoing cancer genetic testing (22.3%) or carrier screening (7.4%). Despite this reported lack of knowledge, most participants (213, 69.6%) stated they would prefer to be informed of all possible results. Reasons in favor of disclosure included wanting to be aware of any risks (168; 83.6%) and to help relatives (23; 11.4%), but also hope that preventive measures might become available in the future (10, 5%). Conversely, potential negative impact on quality of life was the commonest motivation against disclosure. Among 179 participants seen for cancer genetic counseling who were interviewed again after test disclosure, 81.9% had not heard about ES/GS in the meantime; however, the proportion of participants opting for disclosure of any variants was lower (116; 64.8%), with 36 (20.1%) changing opinion compared to the first interview. Based on these findings, we conclude that genetic counseling for ES/GS should involve enhanced education and decision‐making support to enable informed consent to SFs disclosure. [ABSTRACT FROM AUTHOR]

Published
2021
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48. Assisted Walking Program on Walking Ability in In‐Hospital Geriatric Patients: A Randomized Trial.

Author

Gazineo, Domenica, Godino, Lea, Decaro, Roberta, Calogero, Pietro, Pinto, Daniela, Chiari, Paolo, Zoli, Marco, and Ambrosi, Elisa

Subjects
*HOSPITAL care of older people, *PATIENT-centered care, *WALKING, *ELDER care, *CLINICAL trials
Abstract

Objectives: The main aim of this study was to evaluate if an individualized assisted walking program (IAWP) for hospitalized older patients could improve walking ability compared with usual geriatric care and rehabilitation. Design: A randomized controlled trial with an active control group, open labeled with parallel assignment was conducted between October 2018 and January 2020. Setting: Geriatric ward. Participants: A total of 387 hospitalized patients (≥65 years) were randomly assigned to an intervention or control (usual‐care) group. Intervention: The control group received usual hospital care. The intervention group received also an IAWP. Measurements: The primary endpoint was change in walking ability from hospital admission (considering both current and pre‐admission status) to discharge, as assessed with the Braden Activity subscale measures. The secondary endpoint was the occurrence of in‐hospital adverse events, such as complications of mobility, pressure ulcers, falls, pain and mortality, and the length of hospital stay. Intention‐to‐treat and per‐protocol analyses were performed. Results: Baseline characteristics were similar between intervention and control groups. The intervention group, relative to the control group, had significantly improved walking ability at discharge (P <.001). There were no statistically significant differences between the groups in terms of in‐hospital adverse events. No adverse effects were detected. Conclusion: In in‐hospital patients aged 65 and older, an IAWP improves walking ability at discharge. [ABSTRACT FROM AUTHOR]

Published
2021
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