Search Results - "Macchiaiolo, M."

Fetal growth patterns in Beckwith-Wiedemann syndrome by Mussa, A., Russo, S., de Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M.F., Milani, D., Melis, D., Bartuli, A., Cubellis, M.V., Selicorni, A., Silengo, M.C., Larizza, L., Riccio, A., Ferrero, G.B.

“…We provide data on fetal growth pattern on the molecular subtypes of Beckwith–Wiedemann syndrome (BWS): IC1 gain of methylation (IC1‐GoM), IC2 loss of…”
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Pediatric cholesterol screening in Italy: The SPIF project by Buonuomo, P.S, Polizzi, B.M, Macchiaiolo, M, Mastrogiorgio, G, Scalzone, M, Casucci, P, Correra, A, Iughetti, L, Bartuli, A

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Thricho-rhino-phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates by Macchiaiolo, M., Mennini, M., Digilio, M.C., Buonuomo, P.S., Lepri, F.R., Gnazzo, M., Grandin, A., Angioni, A., Bartuli, A.

“…Trichorhinophalangeal syndrome (TRPS) is a rare, autosomal dominant malformation syndrome characterized by hair, craniofacial and skeletal abnormalities, skin…”
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Sublingual immunotherapy in asthma and rhinoconjunctivitis; systematic review of paediatric literature by Miceli Sopo, S, Macchiaiolo, M, Zorzi, G, Tripodi, S

“…Aims: To evaluate the clinical efficacy of sublingual immunotherapy (SLIT) in respiratory allergy in children. Methods: A systematic literature review was…”
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Too late to say it is too early - How to get children with non-cirrhotic metabolic diseases transplanted at the right time? by Macchiaiolo, M., Bartuli, A., McKiernan, P., Dionisi-Vici, C., de Ville de Goyet, J.

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Hypercapnic hypoventilation due to tracheobroncomalacia: the success of non-invasive respiratory support with continuous positive airway pressure by Caldarelli, V, Salerno, T, Verrillo, E, Pavone, M, Macchiaiolo, M, Soldini, S, Bartuli, A, Cutrera, R

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Ligneous periodontal lesions in a young child with severe plasminogen deficiency: a case report by Galeotti, A, Uomo, R, D'Antò, V, Valletta, R, Vittucci, A C, Macchiaiolo, M, Bartuli, A

“…Ligneous periodontitis or gingivitis is a rare periodontal disorder, secondary to plasminogen deficiency, characterised by nodular gingival enlargements and…”
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Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement by Zollino, Marcella, Zweier, Christiane, Van Balkom, Ingrid D., Sweetser, David A., Alaimo, Joseph, Bijlsma, Emilia K., Cody, Jannine, Elsea, Sarah H., Giurgea, Irina, Macchiaiolo, Marina, Smigiel, Robert, Thibert, Ronald L., Benoist, Ingrid, Clayton‐Smith, Jill, De Winter, Channa F., Deckers, Stijn, Gandhi, Anusha, Huisman, Sylvia, Kempink, Dagmar, Kruisinga, Frea, Lamacchia, Vittoria, Marangi, Giuseppe, Menke, Leonie, Mulder, Paul, Nordgren, Ann, Renieri, Alessandra, Routledge, Sue, Saunders, Carol J., Stembalska, Agnieszka, Van Balkom, Hans, Whalen, Sandra, Hennekam, Raoul C.

“…Pitt‐Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous…”
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A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE? by Buonuomo, P.S., El Hachem, M., Mastrogiorgio, G., Pisaneschi, E., Diociaiuti, A., Rana, I., Macchiaiolo, M., Capolino, R., Gonfiantini, M.V., Vecchio, D., Novelli, A., Bartuli, A.

“…Vascular malformations encompass a wide range of complex vascular lesions. Due to the extreme variability of clinical presentation, classification and their…”
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Question 2: Should steroids be used in the treatment of septic arthritis? by Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Mennini, Maurizio, Villani, Alberto, Bartuli, Andrea

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An unusual presentation of tuberous sclerosis by Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Longo, Daniela, Valentini, Diletta, Bartuli, Andrea

“…According to his parents, his past history was unremarkable and he had normal neurological development…”
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Acute rheumatic fever with chorea by Buonuomo, Paola Sabrina, Macchiaiolo, Marina, Toscano, Alessandra, De Benedetti, Fabrizio, Villani, Alberto, Bartuli, Andrea

“…Thyroid studies revealed normal findings excluding thyrotoxicosis. 2 She was diagnosed with acute rheumatic fever presenting with three major Jones'…”
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Seasonal and pandemic influenza vaccine: recommendations to families of at-risk children during the 2009-10 season by Romano, Mariateresa, Pandolfi, Elisabetta, Marino, Maria Giulia, Gesualdo, Francesco, Rizzo, Caterina, Carloni, Emanuela, Macchiaiolo, Marina, Tozzi, Alberto E

“…We performed a study in three Italian regions to evaluate the association between provided recommendations and immunization uptake of the two influenza…”
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Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study by Cacchione, Antonella, Fabozzi, Francesco, Carai, Andrea, Colafati, Giovanna Stefania, Baldo, Giada del, Rossi, Sabrina, Diana, Martino, Megaro, Giacomina, Milano, Giuseppe Maria, Macchiaiolo, Marina, Crocoli, Alessandro, De Ioris, Maria Antonietta, Boccuto, Luigi, Secco, Domitilla Elena, Zama, Mario, Agolini, Emanuele, Tomà, Paolo, Mastronuzzi, Angela

“…Introduction Plexiform neurofibromas (PN) represent the main cause of morbidity in patients affected by Neurofibromatosis Type 1 (NF1). Until recently, surgery…”
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Eruptive Xanthomas in Lipoprotein Lipase Deficiency by Buonuomo, Paola Sabrina, MD, Malamisura, Monica, MD, Macchiaiolo, Marina, MD, Rana, Ippolita, MD, Gonfiantini, Michaela Veronika, MD, Mastrogiorgio, Gerarda, MD, Bartuli, Andrea, MD

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Hypercapnic hypoventilation due to tracheobroncomalacia: the success of non-invasive respiratory support with continuous positive airway pressure by Caldarelli, V, Salerno, T, Verrillo, E, Pavone, M, Macchiaiolo, M, Soldini, S, Bartuli, A, Cutrera, R

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Corneal Arcus as First Sign of Familial Hypercholesterolemia by Macchiaiolo, Marina, MD, Buonuomo, Paola Sabrina, MD, Valente, Paola, MD, Rana, Ippolita, MD, Lepri, Francesca Romana, MD, Gonfiantini, Michaela Veronika, MD, Bartuli, Andrea, MD

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Pediatric Cholesterol Screening In Italy: The Spif Project by Buonuomo, Paola Sabrina, MD, Polizzi, Bianca Maria, MD, Macchiaiolo, Marina, MD, Mastrogiorgio, Gerarda, MD, Iughetti, Lorenzo, MD, Scalzone, Maria, MD, Casucci, Paola, MD, Rana, Ippolita, MD, Bartuli, Andrea, MD

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Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss by Zampino, Giuseppe, Conti, Guido, Balducci, Francesca, Moschini, Massimo, Macchiaiolo, Marina, Mastroiacovo, Pierpaolo

“…We describe a child with whistling face and multiple contractures, including ulnar deviation of fingers, compatible with a diagnosis of Freeman‐Sheldon…”
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