Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Manila Boarini"'
Autor:
Manila Boarini, Andrea Romeo, Federico Banchelli, Eleonora Grippa, Silvia Forni, Maria Cecilia la Forgia, Davide Scognamiglio, Paolo Cornaglia Ferraris, Luca Sangiorgi
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Individuals with rare skeletal disorders like Multiple Osteochondromas and Ollier Disease often experience physical and psychological burdens. Adventure therapy, with activities like sailing in outdoor settings, promotes personal growth and
Externí odkaz:
https://doaj.org/article/91af7c3c9aba4a3ba66a799e039fb9a1
Autor:
Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini, Luca Sangiorgi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is the secondary periphe
Externí odkaz:
https://doaj.org/article/39630631ea254982b0c1ea691e0ae7c2
Autor:
Marina Mordenti, Morena Tremosini, Manuela Locatelli, Maria Gnoli, Cristiana Forni, Elena Pedrini, Manila Boarini, Luca Sangiorgi
Publikováno v:
BMC Health Services Research, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background Only a few studies explore the role of nurses in genetic counselling and genetic health care, and none of them is related to orphan diseases. In addition, few studies address the issue of finding variables that might affect the ec
Externí odkaz:
https://doaj.org/article/757a96f5360d46319f5d5a824e1c932e
Autor:
Marina Mordenti, Manila Boarini, Federico Banchelli, Diego Antonioli, Serena Corsini, Maria Gnoli, Manuela Locatelli, Elena Pedrini, Eric Staals, Giovanni Trisolino, Marcella Lanza, Luca Sangiorgi
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2024)
IntroductionThe present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to
Externí odkaz:
https://doaj.org/article/b2a40acbb65c4dc8a66e41fd68594fc1
Autor:
Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondrosarcoma and compare
Externí odkaz:
https://doaj.org/article/45965d4def734b6fb07d33073a0c9492
Autor:
Muhammad Kassim Javaid, Marina Mordenti, Manila Boarini, Luca Sangiorgi, ERN BOND Working Group, Ingunn Westerheim, Inês Alves, Rebecca Tvedt Skarberg, Natasha M. Appelman-Dijkstra, Corinna Grasemann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are
Externí odkaz:
https://doaj.org/article/164bf1ebabe745438f86281f9fc1a1cd
Autor:
Marina Mordenti, Manila Boarini, Fabio D’Alessandro, Elena Pedrini, Manuela Locatelli, Luca Sangiorgi
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Disease registries have been used as an interesting source of real-world data for supporting regulatory decision-making. In fact, drug studies based on registries cover pre-approval investigation, registry randomized clinical trials, and post-authori
Externí odkaz:
https://doaj.org/article/ee791f9a24f947b08558f344e89a17b2
Autor:
Giovanni Trisolino, Stefano Stallone, Paola Zarantonello, Andrea Evangelista, Manila Boarini, Jacopo Faranda Cordella, Luca Lerma, Luisa Veronesi, Cosma Caterina Guerra, Luca Sangiorgi, Giovanni Luigi Di Gennaro, Renato Maria Toniolo
Publikováno v:
Children, Vol 9, Iss 6, p 853 (2022)
(1) Background: The Pediatric Outcomes Data Collection Instrument (PODCI) is an English-language questionnaire specifically designed to assess health-related quality of life in children and adolescents with musculoskeletal disorders. This scoring sys
Externí odkaz:
https://doaj.org/article/a4f033de5a6d46eab00a96c4c27cf2c1
Autor:
Ana Luisa Priego Zurita, Agnès Linglart, Inês Alves, Renata Simona Auriemma, Manila Boarini, Jillian Bryce, Luisa DeSanctis, Diana-Alexandra Ertl, Hoong-Wei Gan, Corinna Grasemann, Wolfgang Högler, M. Kassim Javaid, Klaus Mohnike, Marina Mordenti, Adalbert Raimann, Luca Sangiorgi, Marco Roos, Rebecca Skarberg, Ondrej Soucek, Judit Toke, Erica van den Akker, Almudena Vicente, Ahmed S. Faisal, Natasha Appelman-Dijkstra
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100849- (2021)
Externí odkaz:
https://doaj.org/article/5a07502701ed4f5b8c8c47da1b13c184
Autor:
Giovanni Trisolino, Manila Boarini, Marina Mordenti, Andrea Evangelista, Giovanni Gallone, Stefano Stallone, Paola Zarantonello, Diego Antonioli, Giovanni Luigi Di Gennaro, Stefano Stilli, Luca Sangiorgi
Publikováno v:
Children, Vol 8, Iss 4, p 287 (2021)
Background: Multiple osteochondromas is a rare skeletal disorder characterized by the presence of osteocartilaginous protrusions causing bony deformities, especially around the knee. Guided growth by temporary hemiepiphyseal stapling is the treatment
Externí odkaz:
https://doaj.org/article/4786e53f2b14411aad59c12da2049d9a