Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Sophie Guez"'
Autor:
Francesco Baldo, Michela Brena, Simone Carbogno, Francesca Minoia, Stefani Lanni, Sophie Guez, Antonella Petaccia, Carlo Agostoni, Rolando Cimaz, Giovanni Filocamo
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-7 (2021)
Abstract Background Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of chroni
Externí odkaz:
https://doaj.org/article/84b0673420f34e3ba53f8ac2db06296c
Autor:
Giulia Rodari, Sophie Guez, Simona Salera, Fabio Massimo Ulivieri, Gianluca Tadini, Michela Brena, Eriselda Profka, Federico Giacchetti, Maura Arosio, Claudia Giavoli
Publikováno v:
PLoS ONE, Vol 17, Iss 9, p e0274072 (2022)
BackgroundDelayed puberty is a possible complication of Epidermolysis Bullosa (EB), though the actual incidence is still unknown. In chronic illnesses delayed puberty should be correctly managed since, if untreated, can have detrimental effects on ad
Externí odkaz:
https://doaj.org/article/e88fb0e3def24b5ab7ea846665a63791
Autor:
Robertino Dilena, Eleonora Mauri, Eleonora Aronica, Pia Bernasconi, Cristina Bana, Cristina Cappelletti, Giorgio Carrabba, Stefano Ferrero, Roberto Giorda, Sophie Guez, Stefano Scalia Catenacci, Fabio Triulzi, Sergio Barbieri, Edoardo Calderini, Annamaria Vezzani
Publikováno v:
Epilepsia Open, Vol 4, Iss 2, Pp 344-350 (2019)
Summary Febrile infection–related epilepsy syndrome (FIRES) is a severe epileptic encephalopathy with presumed inflammatory origin and lacking effective treatments. Anakinra is the human recombinant interleukin 1 receptor antagonist clinically used
Externí odkaz:
https://doaj.org/article/914339717ff241638ed9673745b73988
Autor:
Laura Maffeis, Robertino Dilena, Sophie Guez, Francesca Menni, Cristina Bana, Silvia Osnaghi, Giorgio Carrabba, Paola Marchisio
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-6 (2019)
Abstract Background Idiopathic intracranial hypertension (IIH), also known as pseudotumour cerebri syndrome (PTCS), is characterized by the presence of signs and symptoms of raised intracranial pressure without evidence of any intracranial structural
Externí odkaz:
https://doaj.org/article/b1f2e4a228354cf6ae7f61eded173643
Autor:
Francesco Baldo, Michela Brena, Simone Carbogno, Francesca Minoia, Stefano Lanni, Sophie Guez, Antonella Petaccia, Carlo Agostoni, Rolando Cimaz, Giovanni Filocamo
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/29424bcdb7c2415e8f06a94e8bd7526e
Autor:
Simona Salera, Francesca Menni, Maurizio Moggio, Sophie Guez, Monica Sciacco, Susanna Esposito
Publikováno v:
Nutrients, Vol 9, Iss 6, p 594 (2017)
Neuromuscular diseases (NMDs) represent a heterogeneous group of acquired or inherited conditions. Nutritional complications are frequent in NMDs, but they are sometimes underestimated. With the prolongation of survival in patients with NMDs, there a
Externí odkaz:
https://doaj.org/article/bdf5a39c94194ada9ec6024a8fc0f47c
Autor:
Susanna Esposito, Sophie Guez, Annalisa Orenti, Gianluca Tadini, Giulietta Scuvera, Laura Corti, Alessia Scala, Elia Biganzoli, Emilio Berti, Nicola Principi
Publikováno v:
International Journal of Molecular Sciences, Vol 17, Iss 10, p 1625 (2016)
In order to evaluate the serum anti-skin autoantibodies and cytokine concentrations in patients with different epidermolysis bullosa (EB) types and severity, 42 EB patients and 38 controls were enrolled. Serum anti-skin antibodies were significantly
Externí odkaz:
https://doaj.org/article/348e800ce90d46e7b0842708ae3fd168
Autor:
Elena Cacciatori, Maria Francesca Patria, Silvia Russo, Valentina Alari, Maura Masciadri, Sophie Guez, Donatella Milani, Mara Lelii, Paola Marchisio
Publikováno v:
American Journal of Medical Genetics Part A. 182:2982-2987
Rett syndrome (RTT, MIM * 312750) is an X-linked neurodevelopmental disorder caused by pathogenic variants at the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2, MIM * 300005). The spectrum of MECP2-related phenotypes is wide and
Autor:
Sophie Guez, Simona Salera, Gianluca Tadini, Francesca Sofia Grassi, Donata Rossetti, Claudia Giavoli, Paola Marchisio, Giulia Rodari, Carlo Agostoni
Publikováno v:
Clinical Nutrition. 39:343-352
Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of rare diseases characterized by skin and mucous membrane fragility. EB primarily involves the skin and, in specific subtypes, the mucous membrane, resulting in
Autor:
Paola Castronovo, Sebastiano Aleo, Agostino Seresini, Federico Grilli, Emilio Brunati, Paola Marchisio, Sophie Guez, Donatella Milani
Publikováno v:
Genes. 13:2197
Kyphoscoliotic Ehlers–Danlos syndrome and 17p13.3 microduplication share multiple clinical features such as muscle hypotonia, cleft palate, and growth impairment. This paper describes a patient who was first diagnosed with the duplication and a dec