Výsledky vyhledávání - "S. Gorgoglione"

P84 A case of short stature: a milder phenotypic spectrum of noonan syndrome?

Autor: R Di Pumpo, L Di Florio, S. Gorgoglione, F Sica, A Lanzano, Massimo Pettoello-Mantovani, V Verrotti di Pianella

Publikováno v: Posters.

BACKGROUND Noonan syndrome (NS) is an autosomal dominant disorder characterised by genotypic and phenotypic variability. The prevalence and global frequency of NS at live birth almost all over the world has been reported as one in 1000–2500 individ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b9281d1c77da399b411f7625d3ee0b2a
https://doi.org/10.1136/archdischild-2017-313273.172

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P82 A case report of desmoplastic infantile astrocytoma/ganglioglioma in an infant: the gentle giant

Autor: S. Gorgoglione, A. Ciliberti, A. Petraccaro, Massimo Pettoello-Mantovani, A Lanzano, S Ladogana et, A. Spirito, L. Miglionico, Angela Maggio, Enrica Manca, A. Pacilio, Matteo Maruzzi, R. De Santis

Publikováno v: Posters.

Brain tumours are the most frequent solid tumours and the first cause of cancer-related death in childhood. Their diagnosis has been increasing due to the improvement of diagnostic tools. Low-grade gliomas and embryonal tumours are the most frequent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dad8861d09ae7dba4254f336d6a64be5
https://doi.org/10.1136/archdischild-2017-313273.170

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P62 Situs inversus viscerum and renal agenesis in a newborn

Autor: L. Soldano, Popolo G, S. Gorgoglione, Massimo Pettoello-Mantovani, G Nardella, GF Maffei, V Verrotti di Pianella, Di Gianni Am, C. Calabrese, Lozupone S, Villani G, Magaldi R, Candela Ma, A Lanzano

Publikováno v: Posters.

Situs inversus viscerum is a rare congenital anomaly (incidence 1/15–20 000) in which organs are mirrored from their normal positions. It is called situs inversus viscerum totalis when there is a total transposition of abdominal and thoracic viscer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::025da1e81da214d36196c7c1c843dccf
https://doi.org/10.1136/archdischild-2017-313273.150

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P99 A case of unsuspected pulmonary emboli in child with lymphoma

Autor: A. Ciliberti, A. Petraccaro, R. De Santis, A. Pacilio, L. Miglionico, Massimo Pettoello-Mantovani, A. Spirito, Saverio Ladogana, Matteo Maruzzi, Enrica Manca, Angela Maggio, V Verrotti di Pianella, S. Gorgoglione

Publikováno v: Posters.

Background Pulmonary embolism (PE) is a potentially lethal condition. Although it’s usually manifested with severe symptoms causing right ventricular dysfunction or haemodynamic instability, in case of partial arterial obstruction it can be asympto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2d62f3bca57de86fa3f9d49ec36aafc9
https://doi.org/10.1136/archdischild-2017-313273.187

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P101 A case of rare meningioangiomatosis associated with cortical dysplasia

Autor: Saverio Ladogana, A. Ciliberti, A. Pacilio, Massimo Pettoello-Mantovani, A. Petraccaro, S. Gorgoglione, L. Miglionico, R. De Santis, Angela Maggio, Enrica Manca, Matteo Maruzzi, A. Spirito, L Di Florio

Publikováno v: Posters.

Meningioangiomatosis(MA) is a rare malformative or hamartomatous lesion involved in meninges and cortex. Although it was originally described in association with NF-2, recent studies have revealed that it occurs more frequently in sporadic form. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::39f6b7e23a8d68a7cf8771073b373ddd
https://doi.org/10.1136/archdischild-2017-313273.189

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P65 Unilateral renal agenesis: three case reports

Autor: Massimo Pettoello-Mantovani, G Nardella, Campanale C, L Taurino, Candela Ma, Magaldi R, Piemontese R, S. Gorgoglione, Villani G, A Lanzano, L. Soldano, Cella Avp, V Verrotti di Pianella

Publikováno v: Posters.

Unilateral renal agenesis (incidence of 1/500–1000 newborns), can be isolated or associated with other urological/extra-urological abnormalities. Unilateral renal agenesis (URA) may be suspected after a renal US and confirmed by static renal scinti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::284a9aa78699cd30bd895b88e633cee1
https://doi.org/10.1136/archdischild-2017-313273.153

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P107 Autoimmune lymphoproliferative syndrome (ALPS) in a child: a new disorder to ‘climb’

Autor: A. Spirito, Massimo Pettoello-Mantovani, Angela Maggio, R. De Santis, L. Miglionico, S Ladogana, V Verrotti di Pianella, A. Ciliberti, A. Pacilio, Matteo Maruzzi, A. Petraccaro, Enrica Manca, S. Gorgoglione

Publikováno v: Posters.

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of the immune system caused by a mutation in the Fas apoptotic pathway. It can present with a wide range of clinical manifestations, including noninfectious nonmalignant lymphoadenopat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e92416a31178f696eb00f48173538503
https://doi.org/10.1136/archdischild-2017-313273.195

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P295 Optical pathway glioma and neurofibromatosis type 1

Autor: Valentina Demaio, S. Cringoli, L. Romaniello, S. Gorgoglione, Irene Rutigliano, Massimo Pettoello-Mantovani, Carmela De Meco, L. Chiossi, Pasquale Pio Maccarone, L. Soldano, G Nardella, Angela Maggio, Laura Di Florio, C. Calabrese, P Liberatore, Michele Sacco

Publikováno v: Posters.

Background Neurofibromatosis Type 1 (NF1), a autosomal dominant disorder, which mainly involves Skin and nervous system: 15% of children with NF1 develops optic pathway gliomas (OPG), typically Astrocytomas pilocytic low grade, usually in the first d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0ea81c4eb087e9cb011a1ac1af895922
https://doi.org/10.1136/archdischild-2017-313273.383

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