Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Francesca Dassie"'
Autor:
Felix Reschke, Torben Biester, Thekla von dem Berge, Dagmar Jamiolkowski, Laura Hasse, Francesca Dassie, Pietro Maffei, Katharina Klee, Olga Kordonouri, Hagen Ott, Thomas Danne
Publikováno v:
Endocrine Connections, Vol 12, Iss 7, Pp 1-14 (2023)
As the most visible and vulnerable organ of the human organism, the skin can provide an impression of its state of health. Rare forms of diabetes and endocrinopathies are often diagnosed late or primarily misinterpreted due to their rarity. Skin pecu
Externí odkaz:
https://doaj.org/article/84e5d89eb012420f848079770d73ab26
Autor:
Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Prader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease patient registries ar
Externí odkaz:
https://doaj.org/article/e788ecaab80a41e2a602680820cf9f57
Autor:
Luca Marozio, Francesca Dassie, Gianluca Bertschy, Emilie M. Canuto, Gabriella Milan, Stefano Cosma, Pietro Maffei, Chiara Benedetto
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Alström syndrome (AS) is an ultrarare multisystemic progressive disease caused by autosomal recessive variations of the ALMS1 gene (2p13). AS is characterized by double sensory impairment, cardiomyopathy, childhood obesity, extreme insul
Externí odkaz:
https://doaj.org/article/f7aeceb631474e5eba6637ec58e28fd5
Autor:
Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett, Tarekegn Geberhiwot
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-22 (2020)
Abstract Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturba
Externí odkaz:
https://doaj.org/article/f52e156af0f74a13905c04ea325feb2c
Autor:
Veronica Baioccato, Giulia Quinto, Sara Rovai, Francesca Conte, Francesca Dassie, Daniel Neunhäeuserer, Marco Vecchiato, Stefano Palermi, Andrea Gasperetti, Valentina Bullo, Valentina Camozzi, Roberto Vettor, Andrea Ermolao, Roberto Mioni
Publikováno v:
Biomedicines, Vol 10, Iss 9, p 2176 (2022)
In this study, cardiorespiratory fitness (CRF) and strength level were assessed in women with and without polycystic ovary syndrome (PCOS), matched for age, body composition, androgenic pattern and insulinemic pattern. Patients with and without PCOS
Externí odkaz:
https://doaj.org/article/b853949e428242ef8d17a5a142927d9b
Autor:
Federica Beretta, Francesca Dassie, Matteo Parolin, Federico Boscari, Mattia Barbot, Luca Busetto, Roberto Mioni, Eugenio De Carlo, Carla Scaroni, Francesco Fallo, Roberto Vettor, Pietro Maffei
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
Introduction: Italy, since the end of February 2020, is experiencing the corona virus disease 2019 (COVID-19) pandemic that may present as an acute respiratory infection. We report on COVID-19 pneumonia in the context of a complex case of Cushing's d
Externí odkaz:
https://doaj.org/article/5755f407d84144a4a9668a0703cd439d
Autor:
Alberto De Stefani, Francesca Dassie, Alexandra Wennberg, Giorgia Preo, Alice Muneratto, Roberto Fabris, Pietro Maffei, Antonio Gracco, Giovanni Bruno
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 4, p 1092 (2022)
Background: Acromegaly is a chronic disease caused by an abnormal secretion of growth hormone (GH) by a pituitary adenoma, resulting in an increased circulating concentration of insulin-like growth factor 1 (IGF-1). The main characteristics are a slo
Externí odkaz:
https://doaj.org/article/7112c868997249d789b979c6201ddeb3
Autor:
Susanne Kohl, Britta Baumann, Francesca Dassie, Anja K. Mayer, Maria Solaki, Peggy Reuter, Laura Kühlewein, Bernd Wissinger, Pietro Maffei
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 15, p 7842 (2021)
Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutati
Externí odkaz:
https://doaj.org/article/5e736dec330548dbbae594266f9cb99c
Autor:
Silvia Bettini, Giancarlo Bombonato, Francesca Dassie, Francesca Favaretto, Luca Piffer, Paola Bizzotto, Luca Busetto, Liliana Chemello, Marco Senzolo, Carlo Merkel, Paolo Angeli, Roberto Vettor, Gabriella Milan, Pietro Maffei
Publikováno v:
Diagnostics, Vol 11, Iss 5, p 797 (2021)
Alström syndrome (ALMS) is an ultra-rare monogenic disease characterized by insulin resistance, multi-organ fibrosis, obesity, type 2 diabetes mellitus (T2DM), and hypertriglyceridemia with high and early incidence of non-alcoholic fatty liver disea
Externí odkaz:
https://doaj.org/article/b19ecb0aaab64c28b86b620c4df20fe5
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
Growth hormone (GH) and insulin like growth factor-1 (IGF-1) excess induce well-known deleterious effects on the cardiovascular system, especially after long-term exposition. Acromegaly, a condition of chronic GH and IGF-1 hypersecretion, is frequent
Externí odkaz:
https://doaj.org/article/bea9f15726b649caa7cca018aaf5c582