Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Giulia Ceglie"'
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Externí odkaz:
https://doaj.org/article/3fe6f65ae4ea4f5abd0b7db3950e4155
Autor:
Rosalinda Giannini, Emanuele Agolini, Giuseppe Palumbo, Antonio Novelli, Giacomo Garone, Melissa Grasso, Giovanna Stefania Colafati, Marta Matraxia, Eleonora Piccirilli, Annalisa Deodati, Giulia Ceglie
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Congenital erythrocytosis recognizes heterogeneous genetic basis and despite the use of NGS technologies, more than 50% of cases are still classified as idiopathic. Herein, we describe the case of a 3-year-old boy with a rare metabolic disorder due t
Externí odkaz:
https://doaj.org/article/75e0bf1198af45a399afc46be23166d1
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Sickle cell disease (SCD) is an inherited blood disorder, due to a single point mutation in the β-globin gene (HBB) leading to multisystemic manifestations and it affects millions of people worldwide. The monogenic nature of the disease and the avai
Externí odkaz:
https://doaj.org/article/a05488e040ae49399028d624a58dd9c4
Autor:
Silvio Marchesani, Margherita Di Mauro, Giulia Ceglie, Ginevra Grassia, Michaela Carletti, Rosa Carmela Cristofaro, Matilde Cossutta, Cristina Curcio, Giuseppe Palumbo
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionApproximately 7% of the worldwide population exhibits variations in the globin genes. The recent migration of populations from countries where hemoglobin disorders are endemic has resulted in important epidemiological changes with the dif
Externí odkaz:
https://doaj.org/article/a30a1d96e6f74badbd4144dfe52fb269
Autor:
Silvio Marchesani, Valentina Bertaina, Olivia Marini, Matilde Cossutta, Margherita Di Mauro, Gioacchino Andrea Rotulo, Paolo Palma, Letizia Sabatini, Maria Isabella Petrone, Giacomo Frati, Giulia Monteleone, Giuseppe Palumbo, Giulia Ceglie
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2023)
Introduction: The mutation of the beta-globin gene that causes sickle cell disease (SCD) results in pleiotropic effects, such as hemolysis and vaso-occlusive crisis that can induce inflammatory mechanisms with deleterious consequences on the organism
Externí odkaz:
https://doaj.org/article/1386bf603b004d1081e4a6c584365c85
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
GATA2 deficiency is a disease with a broad spectrum of clinical presentation, ranging from lymphedema, deafness, pulmonary dysfunction to miscarriage and urogenital anomalies, but it is mainly recognized as an immune system and bone marrow disorder.
Externí odkaz:
https://doaj.org/article/b981447066f544489670009a7ead9dd3
Autor:
Isabella Tarissi De Jacobis, Rosa Vona, Elisabetta Straface, Lucrezia Gambardella, Giulia Ceglie, Francesca de Gennaro, Ilenia Pontini, Anna Chiara Vittucci, Alessandra Carè, Camilla Cittadini, Alberto Villani, Donatella Pietraforte
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-8 (2020)
Abstract Background Respiratory syncytial virus (RSV) is the most common cause of bronchiolitis in the pediatric population worldwide and an important cause of death in developing countries. It has been demonstrated that the balance between oxidant a
Externí odkaz:
https://doaj.org/article/922c5c8a59744922be9c63866b508ed9
Autor:
Giulia Ceglie, Laura Papetti, Lorenzo Figà Talamanca, Barbarella Lucarelli, Mattia Algeri, Stefania Gaspari, Giuseppina Li Pira, Giovanna‐Stefania Colafati, Mauro Montanari, Massimiliano Valeriani, Franco Locatelli, Pietro Merli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 2110-2113 (2019)
Abstract Neuromyelitis optica is an immune‐mediated disease characterized by a relapsing course, resulting in progressive disability. In children, given the long life expectancy, a disease‐modifying treatment could be particularly desirable. Unfo
Externí odkaz:
https://doaj.org/article/a6c9127249b84a98bb6a21e30c704bf8
Autor:
Giulia Ceglie, Giada Del Baldo, Emanuele Agolini, Martina Rinelli, Antonella Cacchione, Francesca Del Bufalo, Maria Vinci, Roberto Carta, Luigi Boccuto, Evelina Miele, Angela Mastronuzzi, Franco Locatelli, Andrea Carai
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Pediatric High-Grade Gliomas (pHGG) are among the deadliest childhood brain tumors and can be associated with an underlying cancer predisposing syndrome. The thorough understanding of these syndromes can aid the clinician in their prompt recognition,
Externí odkaz:
https://doaj.org/article/d07abd43c62743318c21bb4489f59dbe
Autor:
Giulia Ceglie, Margherita Di Mauro, Isabella Tarissi De Jacobis, Francesca de Gennaro, Martina Quaranta, Carlo Baronci, Alberto Villani, Giuseppe Palumbo
Publikováno v:
Frontiers in Molecular Biosciences, Vol 6 (2019)
Sickle cell disease (SCD) is one of the most common monogenic disease worldwide. The incidence of SCD is not strictly gender-related as it is transmitted as an autosomal recessive disorder. In particular, the gender-related differences in pediatric S
Externí odkaz:
https://doaj.org/article/850e8e746f344dce9499996e646a7218