Search Results - "Bartuli, A."

Analysis of circulating osteoclast and osteogenic precursors in patients with Gorham-Stout disease by Rossi, M., Terreri, S., Battafarano, G., Rana, I., Buonuomo, P. S., Di Giuseppe, L., D’Agostini, M., Porzio, O., Di Gregorio, J., Cipriani, Cristiana, Jenkner, A., Gonfiantini, M. V., Bartuli, A., Del Fattore, A.

“…Purpose Gorham-Stout disease is a very rare disorder characterized by progressive bone erosion and angiomatous proliferation; its etiopathogenesis is still…”
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In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) by Ranieri, C., Di Tommaso, S., Loconte, D. C., Grossi, V., Sanese, P., Bagnulo, R., Susca, F. C., Forte, G., Peserico, A., De Luisi, A., Bartuli, A., Selicorni, A., Melis, D., Lerone, M., Praticò, A. D., Abbadessa, G., Yu, Y., Schwartz, B., Ruggieri, Martino, Simone, Cristiano, Resta, Nicoletta

“…Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR…”
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Coinfection in acute gastroenteritis predicts a more severe clinical course in children by Valentini, D., Vittucci, A. C., Grandin, A., Tozzi, A. E., Russo, C., Onori, M., Menichella, D., Bartuli, A., Villani, A.

“…The objectives of this study were to determine the incidence of enteric pathogens causing acute gastroenteritis (AGE) among hospitalized children in a large…”
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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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Expanding the spectrum of Gorham Stout disease exploring a single center pediatric case series by Rana, I, Buonuomo, P S, Mastrogiorgio, G, Del Fattore, A, Jenkner, A, Barbuti, D, De Vito, R, Pizzoferro, M, Callea, M, Crostelli, M, Mazza, O, Rotunno, R, Bartuli, A

“…Gorham-Stout Disease (GSD), also named vanishing bone disease, is an ultrarare condition characterized by progressive osteolysis with intraosseous lymphatic…”
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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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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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Extracorporeal dialysis in neonatal hyperammonemia : modalities and prognostic indicators by PICCA, Stefano, DIONISI-VICI, Carlo, ABENI, Damiano, PASTORE, Anna, RIZZO, Cristiano, ORZALESI, Marcello, SABETTA, Gaetano, RIZZONI, Gianfranco, BARTULI, Andrea

“…We investigated the prognostic indicators in ten hyperammonemic neonates: four treated by continuous arteriovenous hemodialysis (CAVHD), four with continuous…”
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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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A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation by FOGLI, A, DIONISI-VICI, C, DEODATO, F, BARTULI, A, BOESPFLUG-TANGUY, O, BERTINI, E

“…Childhood ataxia with central hypomyelination (CACH)/vanishing white matter (VWM) leukoencephalopathy is related to mutations in all five genes of the…”
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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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Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia by Deodato, F, Boenzi, S, Rizzo, C, Abeni, D, Caviglia, S, Picca, S, Bartuli, A, Dionisi-Vici, C

“…Inborn errors of metabolism (IEM) are a highly heterogeneous group of genetic conditions and represent a relevant cause of morbidity and mortality in the…”
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Analysis of Sanfilippo A gene mutations in a large pedigree by Di Natale, P, Villani, GRD, Di Domenico, C, Daniele, A, Dionisi Vici, C, Bartuli, A

“…Mucopolysaccharidosis type IIIA, also known as Sanfilippo A disease, results from mutations in the sulfamidase gene. To date, a total of 62 mutations have been…”
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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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Acute pancreatitis in propionic acidaemia by Burlina, A. B., Dionisi‐Vici, C., Piovan, S., Saponara, I., Bartuli, A., Sabetta, G., Zacchello, F.

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Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency by BERTINI, E, DIONISI-VICI, C, GARAVAGLIA, B, BURLINA, A. B, SABATELLI, M, RIMOLDI, M, BARTULI, A, SABETTA, G, DIDONATO, S

“…An 11-month-old girl presented acute episodes of hypoglycaemia and hepatic encephalopathy reminiscent of Reye syndrome and 3-hydroxydicarboxylic aciduria. The…”
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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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