Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Alberto Gaeta"'
Autor:
Riccardo Bortone, Domenico Bonamonte, Gerardo Cazzato, Carmelo Laface, Alberto Gaeta, Teresa Lettini, Caterina Foti, Raffaele Filotico, Francesca Ambrogio
Publikováno v:
Diagnostics, Vol 13, Iss 15, p 2574 (2023)
Cutis verticis gyrata (CVG) is a rare disorder of the scalp that entails the development of ridges and furrows, which mimic the anatomical conformation of the brain. This skin condition has been classified in primary essential, primary non-essential,
Externí odkaz:
https://doaj.org/article/b8780742dc0041678f14f5a4b33f211e
Autor:
Giuseppe Scrascia, Raffaella Lamparelli, Alberto Gaeta, Dario Troise, Giandomenico Stellacci, Ugo Vairo, Gabriele Scalzo
Publikováno v:
Annals of Pediatric Cardiology, Vol 15, Iss 3, Pp 294-296 (2022)
Left ventricular pseudoaneurysm (LV-PSA) is a rare complication in children, usually developing after cardiac surgery, percutaneous procedures, infections, or trauma. Herein, we report a case of large basal submitral LV-PSA in a 36-day-old baby, dete
Externí odkaz:
https://doaj.org/article/cd1b139f05b24feeb2f043c237719af6
Autor:
Vincenzo Spina, Domenico Barbuti, Alberto Gaeta, Stefano Palmucci, Ernesto Soscia, Marco Grimaldi, Antonio Leone, Renzo Manara, Gabriele Polonara
Publikováno v:
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 67-73 (2018)
Abstract This article discusses the role of imaging modalities including radiography, multi-detector computed tomography, magnetic resonance imaging, and ultrasound in diagnosing and monitoring skeletal abnormalities in mucopolysaccharidoses (MPS). T
Externí odkaz:
https://doaj.org/article/c6f9cc7c496946b184c77a821becf4fc
Autor:
Rita Fischetto, Valentina Palladino, Maria M. Mancardi, Thea Giacomini, Stefano Palladino, Alberto Gaeta, Maja Di Rocco, Lucia Zampini, Giuseppe Lassandro, Vito Favia, Maria E. Tripaldi, Pietro Strisciuglio, Alfonso Romano, Mariasavina Severino, Amelia Morrone, Paola Giordano
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disab
Externí odkaz:
https://doaj.org/article/8cb14bc6ee3e49df80c9e25b779f42e3
Autor:
Federico Baronio, Stefano Zucchini, Francesco Zulian, Mariacarolina Salerno, Rossella Parini, Alessandro Cattoni, Federica Deodato, Alberto Gaeta, Carla Bizzarri, Serena Gasperini, Andrea Pession
Publikováno v:
Medicina, Vol 58, Iss 1, p 97 (2022)
Background and Objectives: Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to the rarity of the disease and the variability of clinical presentation. Short stature and impaired growth velocity are frequent findings
Externí odkaz:
https://doaj.org/article/904a578b1c56444e9b729a4d0dde81d4
Autor:
Rita Fischetto, Viviana V. Palmieri, Maria E. Tripaldi, Alberto Gaeta, Angela Michelucci, Maurizio Delvecchio, Ruggiero Francavilla, Paola Giordano
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Alagille syndrome is an autosomal dominant multisystem disorder with variable phenotypic penetrance, caused by heterozygous mutations in JAG1 or NOTCH2, encoding for the components of the Notch signaling pathway. In this paper, we described a novel m
Externí odkaz:
https://doaj.org/article/e7c7939686b64aa69b89969aeb09cc2c
Autor:
Albina Tummolo, Orazio Gabrielli, Alberto Gaeta, Maristella Masciopinto, Lucia Zampini, Luigi Michele Pavone, Paola Di Natale, Francesco Papadia
Publikováno v:
Case Reports in Medicine, Vol 2013 (2013)
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate. Classically, MPS IVA patients present with severe multisyste
Externí odkaz:
https://doaj.org/article/d6a17b9104ec4555813e1ac02515da83
Autor:
Aurelio Secinaro, Lamia Ait-Ali, Davide Curione, Alberto Clemente, Alberto Gaeta, Andrea Giovagnoni, Annalisa Alaimo, Antonio Esposito, Bertrand Tchana, Camilla Sandrini, Elena Bennati, Emanuela Angeli, Francesco Bianco, Francesca Ferroni, Francesca Pluchinotta, Francesca Rizzo, Francesco Secchi, Gaia Spaziani, Gianluca Trocchio, Giuseppe Peritore, Giovanni Puppini, Maria Cristina Inserra, Nicola Galea, Nicola Stagnaro, Paolo Ciliberti, Placido Romeo, Riccardo Faletti, Simona Marcora, Valentina Bucciarelli, Luigi Lovato, Pierluigi Festa
Publikováno v:
La radiologia medica. 127:788-802
Cardiovascular magnetic resonance (CMR) and computed tomography (CCT) are advanced imaging modalities that recently revolutionized the conventional diagnostic approach to congenital heart diseases (CHD), supporting echocardiography and often replacin
Autor:
Giuseppe Castellano, Alberto Gaeta, Paolo Giordano, Giuseppe Stefano Netti, Vincenza Carbone, Franca Di Cuonzo, Mario Giordano, Luisa Santangelo, Diletta Domenica Torres, Cinzia Germinario, Gaia Scavia, Maria Chironna, Marida Martino, Loreto Gesualdo, Maria Chiara Resta, Michela Sesta, Leonardo Milella
Publikováno v:
Pediatric Nephrology. 34:517-527
Thrombotic microangiopathy (TMA) is a clinical syndrome encompassing a large group of rare but severe disorders including thrombotic thrombocytopenic purpura (TTP) and both typical and atypical forms of hemolytic uremic syndrome (HUS). The key role o
Autor:
Thea Giacomini, Pietro Strisciuglio, Stefano Palladino, Maja Di Rocco, Giuseppe Lassandro, Alberto Gaeta, Valentina Palladino, Mariasavina Severino, Vito Favia, Rita Fischetto, Lucia Zampini, Amelia Morrone, Maria Margherita Mancardi, Alfonso Romano, Maria E. Tripaldi, Paola Giordano
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Background In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and