Zobrazeno 1 - 10
of 233
pro vyhledávání: '"Salvatore, Cannavò"'
Autor:
Adrian F. Daly, Leslie A. Dunnington, David F. Rodriguez-Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani, Vandana M. Rawal, Fabio Rueda Faucz, Hadia Hijazi, Jean-Hubert Caberg, Anna Maria Nardone, Mario Bengala, Paola Fortugno, Giulia Del Sindaco, Marta Ragonese, Helen Gould, Salvatore Cannavò, Patrick Pétrossians, Andrea Lania, James R. Lupski, Albert Beckers, Constantine A. Stratakis, Brynn Levy, Giampaolo Trivellin, Martin Franke
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background X-linked acrogigantism (X-LAG; MIM: 300942) is a severe form of pituitary gigantism caused by chromosome Xq26.3 duplications involving GPR101. X-LAG-associated duplications disrupt the integrity of the topologically associating do
Externí odkaz:
https://doaj.org/article/3554c83b75ce4cf485ca6c1f7161c979
Autor:
Angelo Alito, Giorgio Carmelo Basile, Daniele Bruschetta, Gina Lacramioara Berescu, Filippo Cavallaro, Aurelio Daniele Postorino, Eliseo Scarcella, Marta Ragonese, Salvatore Cannavò, Adriana Tisano
Publikováno v:
Folia Medica, Vol 65, Iss 1, Pp 37-45 (2023)
Introduction: Despite successful therapy, acromegalic patients have reduced health-related quality of life (HRQoL) compared to healthy controls. Finding predictors of poor HRQoL can be crucial to improving these patients’ global health state. Aim:
Externí odkaz:
https://doaj.org/article/6599242cc38141eb969d7d868521b671
Autor:
Cristina Pizzimenti, Mariausilia Franchina, Vincenzo Fiorentino, Salvatore Cannavò, Francesco Ferraù, Antonio Ieni, Guido Fadda, Giovanni Tuccari
Publikováno v:
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 110, Iss 2, Pp 1-6 (2022)
Sellar region hosts a wide range of different types of lesions. Most of these lesions present with mass effect symptoms and, often, with symptoms related to hormonal disturbances, mimicking a pituitary neuroendocrine tumour (PitNET). We report two ca
Externí odkaz:
https://doaj.org/article/3ed8c25499df4fe5adef0005f2a2c59c
Autor:
Mariacarla Moleti, Tommaso Aversa, Salvatore Crisafulli, Gianluca Trifirò, Domenico Corica, Giorgia Pepe, Laura Cannavò, Maria Di Mauro, Giuseppe Paola, Andrea Fontana, Fabrizio Calapai, Salvatore Cannavò, Malgorzata Wasniewska
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ObjectiveDifferentiated thyroid cancer (DTC) is rare in childhood and adolescence although it represents the most frequent endocrine malignancy in this population. DTC includes both papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma (
Externí odkaz:
https://doaj.org/article/96981e3d890444349513b1bda9c9ec3d
Autor:
Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionHypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.MethodsThere were 30 suspected HPP patients recr
Externí odkaz:
https://doaj.org/article/0354a004b69343bd97c812b9b831c063
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/78279c916d274a4bb3cd573bd0c7f8b9
Publikováno v:
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-6 (2021)
Abstract Background Pituitary metastases are rare, often deriving from lung or breast cancer owing to the upper vena cava proximity. Pituitary metastases can manifest with signs and symptoms of pituitary tumors, consequent to mass effect (headache, v
Externí odkaz:
https://doaj.org/article/9ff93829c57643e28f7e53483b52468a
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2021)
Factitious Cushing’s syndrome (CS) is a very rare form of Münchausen syndrome. Its presentation and course are extremely heterogeneous, and diagnosis is generally challenging. We report the case of a 52-year-old woman who was initially investigate
Externí odkaz:
https://doaj.org/article/e87bce9c3f3245b7a81564183b08bd6c
Publikováno v:
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 109, Iss 2, Pp 1-6 (2021)
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant inherited disorder due to inactivating mutations in the calcium-sensing receptor (CaSR), less commonly in the G-protein subunit α11 (GNA11) or the adaptor-related protein complex 2,
Externí odkaz:
https://doaj.org/article/dfbb0ea72b49440c8655e2c0d9054986
Autor:
Giuseppe Giuffrida, Valeria D’Argenio, Francesco Ferraù, Vito Alessandro Lasorsa, Francesca Polito, Federica Aliquò, Marta Ragonese, Oana Ruxandra Cotta, Ylenia Alessi, Rosaria Oteri, Federica Di Maggio, Alessio Asmundo, Petronilla Daniela Romeo, Federica Spagnolo, Lucio Pastore, Filippo Flavio Angileri, Mario Capasso, Salvatore Cannavò, M’Hammed Aguennouz
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Pituitary adenomas (PAs), usually benign lesions, can sometimes present with “aggressive” features (rapid growth, local invasiveness, scarce response to conventional treatments). Despite the fact that a few genetic alterations have been associate
Externí odkaz:
https://doaj.org/article/3f218134064c478fb28a4dc138275461