95 results on '"Roberti, V."'
Search Results
2. Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients
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Moramarco A, Alisi L, Lambiase A, Giustini S, Lucchino L, Miraglia E, Roberti V, and Nebbioso M
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gorlin-goltz syndrome ,nevoid basal cell carcinoma syndrome ,pattern visual evoked potentials ,rare diseases ,electrophysiology ,visual pathway ,genodermatosis ,patch1 ,Ophthalmology ,RE1-994 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Antonietta Moramarco,1,* Ludovico Alisi,1,* Alessandro Lambiase,1 Sandra Giustini,2 Luca Lucchino,1 Emanuele Miraglia,2 Vincenzo Roberti,2 Marcella Nebbioso1 1Department of Sense Organs, Faculty of Medicine and Odontology, Sapienza University of Rome, Rome, 00161, Italy; 2Department of Dermatology, Sapienza University of Rome, Rome, 00185, Italy*These authors contributed equally to this workCorrespondence: Alessandro LambiaseDepartment of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, Rome, 00161, ItalyTel +39 06 49975357Fax +39 06 49975425Email alessandro.lambiase@uniroma1.itIntroduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120ʹ), medium (60ʹ), and large (15ʹ) check size stimulation.Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.Keywords: Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, pattern visual evoked potentials, rare diseases, electrophysiology, visual pathway, genodermatosis, PATCH1
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- 2021
3. Ocular surface involvement in patients with neurofibromatosis type 1 syndrome
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Moramarco, Antonietta, Sacchetti, M., Franzone, F., Segatto, M., Cecchetti, D., Miraglia, E., Roberti, V., Iacovino, C., and Giustini, S.
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- 2020
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4. A-257 - Cellular Origin of Basal Cell Carcinoma via Reflectance Confocal Microscopy
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Ambrosio, L., Gargano, L., Greco, M.E., Chello, C., Roberti, V., Uribe, P., Villaseca, M., Conforti, C., Navarrete, C., and Pellacani, G.
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- 2024
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5. Tumors in patients with neurofibromatosis type 1: a single- center retrospective study
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Roberti, V., Miraglia, E., Laghi, A., Iacovino, C., Moliterni, E., and Giustini, S.
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Adult ,Neurofibromatosis 1 ,Adolescent ,Incidence ,Infant ,cancer ,epidemiology ,neurofibro-min ,neurofibromatosis ,adolescent ,adult ,aged ,child ,child, preschool ,female ,humans ,incidence ,infant ,Italy ,middle aged ,retrospective studies ,young adult ,neurofibromatosis 1 ,Middle Aged ,Young Adult ,Child, Preschool ,Humans ,Female ,Child ,Aged ,Retrospective Studies - Abstract
To investigate the risk and pattern of tumors in italian neurofibromatosis type 1 (NF1) patients.A retrospective single institution case review of 711 patients (seen between March 1992 and February 2018) with NF1 was conducted to identify individuals with diagnoses of both NF1 and neoplasm. NF1-associated tumors have been collected and analyzed.We identified 221 tumors in 191 subjects with a percentage of 26.9%, diagnosed at a median age of 32.5 years (range, 0.6-70.1 years); 111 of these patients were females (58%) and all were fol-lowed up for a median of 5.3 years. The cumulative risks for tumor in patients with NF1 by the ages of 30 and 60 years were 10% and 42.5%, respectively. In our patients with tumor, overall survival at 70 years was significantly shorter than in those without it (50% vs 95%, P0.0001). We found an unequivocally increased incidence for breast cancer in females (33 cases observed).Tumors that develop in patients with NF1 are heterogeneous, our data are consistent with other reports suggesting an increase in some cancers risk among these individuals, therefore systematic medical follow-up in people with NF1 is important.
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- 2022
6. Mite bites, comet signs and possible mammary prosthesis rejection after returning to a vacation home: a diagnostic challenge
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Laghi, A., primary, Ongaro, C., additional, Moliterni, E., additional, Malvindi, S., additional, Roberti, V., additional, Iacovino, C., additional, Miraglia, E., additional, and Giustini, S., additional
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- 2021
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7. Tumors in patients with neurofibromatosis type 1: a singlecenter retrospective study.
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Roberti, V., Miraglia, E., Laghi, A., Iacovino, C., Moliterni, E., and Giustini, S.
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NEUROFIBROMATOSIS 1 ,TUMOR risk factors ,DISEASE incidence ,BREAST cancer ,FOLLOW-up studies (Medicine) - Abstract
Objective. To investigate the risk and pattern of tumors in italian neurofibromatosis type 1 (NF1) patients. Materials and Methods. A retrospective single institution case review of 711 patients (seen between March 1992 and February 2018) with NF1 was conducted to identify individuals with diagnoses of both NF1 and neoplasm. NF1-associated tumors have been collected and analyzed. Results. We identified 221 tumors in 191 subjects with a percentage of 26.9%, diagnosed at a median age of 32.5 years (range, 0.6-70.1 years); 111 of these patients were females (58%) and all were followed up for a median of 5.3 years. The cumulative risks for tumor in patients with NF1 by the ages of 30 and 60 years were 10% and 42.5%, respectively. In our patients with tumor, overall survival at 70 years was significantly shorter than in those without it (50% vs 95%, P<0.0001). We found an unequivocally increased incidence for breast cancer in females (33 cases observed). Conclusions. Tumors that develop in patients with NF1 are heterogeneous, our data are consistent with other reports suggesting an increase in some cancers risk among these individuals, therefore systematic medical follow-up in people with NF1 is important. [ABSTRACT FROM AUTHOR]
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- 2022
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8. Erythema annulare centrifugum as the presenting sign of breast carcinoma
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Panasiti, V, Devirgiliis, V, Curzio, M, Rossi, M, Roberti, V, Bottoni, U, and Calvieri, S
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- 2009
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9. Optimal preview semiactive suspension
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Jezequel, L. and Roberti, V.
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Automobiles -- Equipment and supplies ,Control systems -- Models ,Engineering and manufacturing industries ,Science and technology - Abstract
This paper examines an optimal preview semiactive suspension of a quarter-coach model moving along randomly profiled track. This optimal computer-controlled suspension is designed only to dissipate energy, and is able to use knowledge of track irregularities over a distance L in front of the train. Thus the deformation of the track can be taken into account when calculating the semi-active suspension control law. First, the expression of the optimal preview semiactive control law is established. Then, using a two-degrees-of-freedom quarter-coach model, preview information is shown to improve the behavior of an optimal non-preview semi-active system, which can come close to the performance of an active system.
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- 1996
10. Ultrastructure study of skin fibroblasts in patients with Ehlers-Danlos Syndrome (EDS): preliminary results.
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Celli, M., Iacovino, C., Febbo, A., Lotti, L. V., Miraglia, E., Celli, L., Roberti, V., Sernicola, A., Zambrano, A., Turchetti, A., Vespa, S., and Giustini, S.
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SMOOTH muscle ,MYOFIBROBLASTS ,SKIN biopsy ,COLLAGEN ,FIBROBLASTS - Abstract
Aim of the study. To investigate, in vivo and in vitro, the fibroblastto-myofibroblast transition in patients with hypermobile Ehlers-Danlos Syndrome (EDS). To analyze the dermis of patients with classical form of EDS (cEDS) and with hEDS, to identify qualitative and/or quantitative differences in ECM component and ultrastructural changes in collagen. Materials and methods. Seven subjects, aged over 18, two with cEDS and five with hEDS underwent two skin biopsy. One sample was prepared for transmission electron microscopy (TEM), the other for immunofluorescence. The diameter of collagen fibers was measured with TEM. Fibrils were analyzed in four patients: the two with cEDS and two with hEDS. For each patient, the diameter of n=250 collagen fibrils was measured. αSMA was used as specific marker for myofibroblast to highlight their presence in vivo in the skin of patients with hEDS. Results. IF observation could not assess an increased expression of αSMA in hEDS patients, which showed no statistical difference compared to classic form patients. The major result from the analysis of TEM images is the clear difference in ECM composition between the two forms of EDS: ECM in hEDS is optically more dense and more prominently composed of elastic fibers. Conclusions. Our study provides the following important evidence: 1) the absence in vivo of dermal fibroblasts in patients with hEDS, demonstrated by αSMA negativity; 2) the presence of statistically significant changes in the diameter of collagen fibrils between the classic and the hypermobile forms. [ABSTRACT FROM AUTHOR]
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- 2020
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11. Cutaneous manifestations in neurofibromatosis type 1.
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Miraglia, E., Moliterni, E., Iacovino, C., Roberti, V., Laghi, A., Moramarco, A., and Giustini, S.
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CUTANEOUS manifestations of general diseases ,NEUROFIBROMATOSIS 1 ,DISEASE prevalence ,DERMATOLOGISTS ,NEUROFIBROMIN - Abstract
Objective. To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1. Materials and Methods. We reviewed all clinical charts of 1102 NF1 patients followed by February 1983 to February 2020 at the “Sapienza†University of Rome, Italy. NF1 patients are seen usually every year by a dermatologist. Results. Café-au-lait macules were shown in 1063 patients (96.5%), axillary and inguinal freckling in 991 (90%) and neurofibromas in 861 (78.1%). Other skin manifestations included: lipoma (6.2%), nevus anemicus (3.9%), psoriasis (3.4%), spilus nevus (3.2%), juvenile xanthogranuloma (3.2%), vitiligo (2.3%), Becker’s nevus (1.9%), melanoma (0.7%) and poliosis (0.5%). Conclusions. Neurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system. The clinical manifestations are extremely variable even within a family. This study was performed to delineate the prevalence of cutaneous manifestations in NF1. [ABSTRACT FROM AUTHOR]
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- 2020
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12. Metabolic Power and Oxygen Consumption in Team Sports: A Brief Response to Buchheit et al.
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Osgnach, C., additional, Paolini, E., additional, Roberti, V., additional, Vettor, M., additional, and di Prampero, P., additional
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- 2016
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13. Fenotipi mutatori e risposta SOS in isolati clinici di N. meningitidis
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CANTALUPO G, PAGLIARULO C, TREDICI M, ROBERTI V, SALVATORE P, LAVITOLA A, BUCCI, Cecilia, ALIFANO, Pietro, Cantalupo, G, Pagliarulo, C, Tredici, M, Roberti, V, Salvatore, P, Lavitola, A, Bucci, Cecilia, and Alifano, Pietro
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- 2000
14. REDUCED LEVELS OF SHP1 PROVIDES AN ADDITIVE SURVIVAL ADVANTAGE TO THE PH+ CELLS OF CML PATIENTS AND MAY ACCOUNT FOR RESISTANCE TO IMA TREATMENT
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Esposito, N., Colavita, I., Izzo, B., Quarantelli, F., Sica, R. A., Buonomo, T., Roberti, V., Luciano, L., Vecchio, L. D., Peluso, A., Melo, J. V., Russo, D., Martinelli, G., Martinelli, Rosanna, Ruoppolo, M., and Pane, F.
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- 2009
15. BROMHIDROSIS INDUCED BY SPHINGOMONAS PAUCIMOBILIS: A CASE REPORT
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Mancini M, Panasiti V, Devirgiliis V, Pietropaolo V, Fioriti D, Nicosia R, Curzio M, Roberti V, Gobbi S, Bottoni U, Chiarini F, and stefano calvieri
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axillary bacteria ,sphingomonas paucimobilis ,bromhidrosis - Published
- 2009
16. Efficacia del trattamento delle radiodermiti acute con olio di ozonidi
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Roberti, V., Gobbi, S., Panasiti, Vincenzo, Devirgiliis, Valeria, Curzio, Michela, Rossi, Mariarita, Mancini, M., Papaleo, A., Castrichimo, A., DE SANCTIS, V., MAURIZI ENRICI, R., and Calvieri, Stefano
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- 2008
17. Linfonodo sentinella nei pazienti affetti da melanoma: una questione ancora aperta
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Roberti, V., Gobbi, S., Devirgiliis, Valeria, Panasiti, Vincenzo, Curzio, Michela, Rossi, Mariarita, Mancini, M., and Calvieri, Stefano
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- 2008
18. Multiple molecular mechanism may account for resistance to imatinib in resistant cell lines
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Esposito, N., Izzo, B., Quarantelli, F., Colavita, I., Buonomo, T., Roberti, V., Soverini, S., Melo, J. V., Martinelli, G., Martinelli, Rosanna, Ruoppolo, M., Rotoli, B., and Pane, F.
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- 2007
19. Gene expression profile analysis by DNA microarrays in familial combined hyperlipidemia patients. (2006) 6, 95-96
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Martinelli, Rosanna, Buonomo, T, Roberti, V, Pauciullo, P, Gentile, M, Rubba, P, and De Simone, V.
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- 2006
20. The Blue Globular Pattern in Dermoscopy
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Roberti, V., primary, Devirgiliis, V., additional, Curzio, M., additional, Gobbi, S., additional, Coppola, R., additional, Calvieri, S., additional, and Panasiti, V., additional
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- 2013
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21. Metastatic Volume: An Old Oncologic Concept and a New Prognostic Factor for Stage IV Melanoma Patients
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Panasiti, V., primary, Curzio, M., additional, Roberti, V., additional, Lieto, P., additional, Devirgiliis, V., additional, Gobbi, S., additional, Naspi, A., additional, Coppola, R., additional, Lopez, T., additional, di Meo, N., additional, Gatti, A., additional, Trevisan, G., additional, Londei, P., additional, and Calvieri, S., additional
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- 2013
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22. Antibacterial Activity of Methyl Aminolevulinate Photodynamic Therapy in the Treatment of a Cutaneous Ulcer
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Devirgiliis, V., primary, Panasiti, V., additional, Fioriti, D., additional, Anzivino, E., additional, Bellizzi, A., additional, Cimillo, M., additional, Curzio, M., additional, Melis, L., additional, Roberti, V., additional, Gobbi, S., additional, Lieto, P., additional, Richetta, A.G., additional, Calvieri, S., additional, Chiarini, F., additional, Nicosia, R., additional, and Pietropaolo, V., additional
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- 2011
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23. Bromhidrosis Induced by Sphingomonas Paucimobilis: A Case Report
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Mancini, M., primary, Panasiti, V., additional, Devirgiliis, V., additional, Pietropaolo, V., additional, Fioriti, D, additional, Nicosia, R., additional, Curzio, M., additional, Roberti, V., additional, Gobbi, S., additional, Bottoni, U., additional, Chiarini, F., additional, and Calvieri, S., additional
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- 2009
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24. Adaptive semiactive isolation of seismic buildings
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Roberti, V, primary and Jezequel, L, additional
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- 1995
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25. Analysis Of Mechanical Systems With Slowly Varying Parameters By Normal Form Method
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Lamarque, C.-H., primary, Malasoma, J.-M., additional, and Roberti, V., additional
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- 1993
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26. IMPROVEMENT OF VERY HIGH SPEED TRAINS COMFORT WITH PREVIEW SEMI-ACTIVE SUSPENSIONS
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Jezequel, L., primary, Roberti, V., additional, Ouyahia, B., additional, and Toutain, Y., additional
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- 1992
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27. Sorgera' a Ginevra il sincrotrone più potente
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Roberti, V
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Accelerator PS - Published
- 1955
28. Complete remission of nodular basal cell carcinoma after combined treatment with photodynamic therapy and imiquimod 5% cream
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Devirgiliis V, Panasiti V, Curzio M, Gobbi S, Rossi M, Roberti V, and stefano calvieri
29. Antibacterial activity of methyl aminolevulinate photodynamic therapy in the treatment of a cutaneous ulcer
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Devirgiliis V, Panasiti V, Fioriti D, Anzivino E, Bellizzi A, Cimillo M, Curzio M, Melis L, Roberti V, Gobbi S, Liteo P, Ag, Richetta, stefano calvieri, Chiarini F, Nicosia R, and Pietropaolo V
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photodynamic therapy (pdt) ,enterococcus faecalis ,methyl-aminolevulinic acid (mal) ,chronic venous ulceration ,staphylococcus aureus
30. Unusual dermoscopic patterns of basal cell carcinoma mimicking melanoma
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Eleonora Di Matteo, Riccardo Pampena, Maria A. Pizzichetta, Elisa Cinotti, Johanna Chester, Shaniko Kaleci, Marco Manfredini, Stefania Guida, Emi Dika, Elvira Moscarella, Aimilios Lallas, Zoe Apalla, Giuseppe Argenziano, Jian L Perrot, Linda Tognetti, Michela Lai, Carmen Cantisani, Vincenzo Roberti, Diletta Fiorani, Carlotta Baraldi, Leonardo Veneziano, Chryssoula Papageorgiou, Silvana Ciardo, Pietro Rubegni, Iris Zalaudek, Annalisa Patrizi, Caterina Longo, Luca Bianchi, Giovanni Pellacani, Francesca Farnetani, Di Matteo, E., Pampena, R., Pizzichetta, M. A., Cinotti, E., Chester, J., Kaleci, S., Manfredini, M., Guida, S., Dika, E., Moscarella, E., Lallas, A., Apalla, Z., Argenziano, G., Perrot, J. L., Tognetti, L., Lai, M., Cantisani, C., Roberti, V., Fiorani, D., Baraldi, C., Veneziano, L., Papageorgiou, C., Ciardo, S., Rubegni, P., Zalaudek, I., Patrizi, A., Longo, C., Bianchi, L., Pellacani, G., Farnetani, F., Di Matteo E., Pampena R., Pizzichetta M.A., Cinotti E., Chester J., Kaleci S., Manfredini M., Guida S., Dika E., Moscarella E., Lallas A., Apalla Z., Argenziano G., Perrot J.L., Tognetti L., Lai M., Cantisani C., Roberti V., Fiorani D., Baraldi C., Veneziano L., Papageorgiou C., Ciardo S., Rubegni P., Zalaudek I., Patrizi A., Longo C., Bianchi L., Pellacani G., and Farnetani F.
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Skin Neoplasms ,malignant melanoma ,basal cell carcinoma ,dermoscopy ,non-invasive diagnosis ,non-invasive techniques ,Dermatology ,Biochemistry ,Sensitivity and Specificity ,Diagnosis, Differential ,Settore MED/35 ,Carcinoma, Basal Cell ,Humans ,non-invasive diagnosi ,Molecular Biology ,Melanoma ,Retrospective Studies - Abstract
Background: Basal cell carcinoma can simulate melanoma and specific dermoscopic criteria have not yet been defined in a large cohort. Objective: To identify dermoscopic “trump” characteristics for differential diagnosis, identify cluster groups and assess the clinical impact of this study's findings. Methods: Retrospective, multicentric comparative study of atypical, non-facial basal cell carcinoma (≥1seven-point checklist criteria) and melanoma (with at least one BCC criteria) at dermoscopy. Observed dermoscopic features were used to develop a proposed score. Lesion clusters were defined with hierarchical analysis. Clinical impact was assessed with a blinded reader study following this study's results. Results: A total of 146 basal cell carcinoma and 76melanoma were included. Atypical vascular pattern was common to most lesions (74.5%). Twelve trump features were included in the proposed score (sensitivity 94.1% and specificity 79.5%). Cluster analysis identified 3 basal cell carcinoma and 3melanoma clusters. Findings improved overall diagnostic accuracy and confidence (26.8% and 13.8%, respectively; p 
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- 2022
31. Evolution and function of the neisserial dam-replacing gene
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Giuseppina Cantalupo, Cecilia Bucci, Caterina Pagliarulo, Paola Salvatore, Pietro Alifano, Carmelo B. Bruni, Vera Roberti, Alfredo Lavitola, Cantalupo, G, Bucci, Cecilia, Salvatore, P., Pagliarulo, C., Roberti, V., Lavitola, A, Bruni, C. B., Alifano, Pietro, Bucci, C, Salvatore, Paola, Pagliarulo, C, Roberti, V, Lavitola, Alfredo, Bruni, CARMELO BRUNO, and Alifano, P.
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Molecular Sequence Data ,Biophysics ,DNA repair ,Neisseria meningitidis ,medicine.disease_cause ,Biochemistry ,Microbiology ,Evolution, Molecular ,Listeria monocytogenes ,Bacterial Proteins ,Structural Biology ,Sequence Homology, Nucleic Acid ,Genetics ,medicine ,Neisseria meningitidi ,RNA, Messenger ,Deoxyribonucleases, Type II Site-Specific ,Molecular Biology ,Gene ,Neisseria lactamica ,Repetitive Sequences, Nucleic Acid ,Phase variation ,Type II restriction endonuclease ,Non-pathogenic Neisseria ,biology ,Base Sequence ,NmeBII ,Lactococcus lactis ,Neisserial small repeated element ,Cell Biology ,biology.organism_classification ,Restriction enzyme ,Staphylococcus aureus ,Genes, Bacterial - Abstract
Phase variation through slippage-like mechanisms involving homopolymeric tracts depends in part on the absence of Dam-methylase in several pathogenic isolates of Neisseria meningitidis. In Dam-defective strains drg (dam-replacing gene), flanked by pseudo-transposable small repeated elements (SREs), replaced dam. We demonstrate that drg encodes a restriction endonuclease (NmeBII) that cleaves 5′-GmeATC-3′. drg is also present in 50% of Neisseria lactamica strains, but in most of them it is inactive because of the absence of an SRE-providing promoter. This is associated with the presence of GATmeC, suggesting an alternative restriction-modification system (RM) specific for 5′-GATC-3′, similar to Sau3AI-RM of Staphylococcus aureus 3A, Lactococcus lactis KR2 and Listeria monocytogenes.
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- 2001
32. Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes
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Pietro Alifano, Cecilia Bucci, Vera Roberti, Giuseppina Cantalupo, Carmelo B. Bruni, Cantalupo, G., Alifano, P., Roberti, V., Bruni, CARMELO BRUNO, Bucci, C., Cantalupo, G, Alifano, Pietro, Roberti, V, Bruni, Cb, and Bucci, Cecilia
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DNA, Complementary ,Endosome ,Endocytic cycle ,Molecular Sequence Data ,Biology ,General Biochemistry, Genetics and Molecular Biology ,Article ,Two-Hybrid System Techniques ,Humans ,Small GTPase ,Amino Acid Sequence ,Molecular Biology ,Adaptor Proteins, Signal Transducing ,General Immunology and Microbiology ,Base Sequence ,Effector ,General Neuroscience ,Signal transducing adaptor protein ,rab7 GTP-Binding Proteins ,Endocytosis ,Cell biology ,Transport protein ,Protein Transport ,RAB7A ,Biochemistry ,rab GTP-Binding Proteins ,Mutation ,Rab ,Carrier Proteins ,Lysosomes ,HeLa Cells - Abstract
Rab7 is a small GTPase that controls transport to endocytic degradative compartments. Here we report the identification of a novel 45 kDa protein that specifically binds Rab7GTP at its C-terminus. This protein contains a domain comprising two coiled-coil regions typical of myosin-like proteins and is found mainly in the cytosol. We named it RILP (Rab-interacting lysosomal protein) since it can be recruited efficiently on late endosomal and lysosomal membranes by Rab7GTP. RILP-C33 (a truncated form of the protein lacking the N-terminal half) strongly inhibits epidermal growth factor and low-density lipoprotein degradation, and causes dispersion of lysosomes similarly to Rab7 dominant-negative mutants. More importantly, expression of RILP reverses/prevents the effects of Rab7 dominant-negative mutants. All these data are consistent with a model in which RILP represents a downstream effector for Rab7 and both proteins act together in the regulation of late endocytic traffic.
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- 2001
33. Rab4 affects both recycling and degradative endosomal trafficking
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Vera Roberti, Anna Bielli, Frances J. Drummond, Mariarosaria Santillo, Cecilia Bucci, Silvia Mora, Mary W. McCaffrey, Giuseppina Cantalupo, MCCAFFREY M., W, Bielli, A, Cantalupo, G, Mora, S, Roberti, V, Santillo, M, Drummond, F, Bucci, Cecilia, Mccaffrey, Mary W, Bielli, Anna, Cantalupo, Giuseppina, Mora, Silvia, Roberti, Vera, Santillo, Mariarosaria, and Drummond, France
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Endosome ,media_common.quotation_subject ,Endocytic cycle ,Mutant ,Biophysics ,Gene Expression ,Low density lipoprotein ,Endosomes ,Membrane trafficking ,GTPase ,Biology ,Ligands ,Transfection ,Endocytosis ,Microtubules ,Biochemistry ,Iodine Radioisotopes ,Structural Biology ,Epidermal growth factor ,Receptors, Transferrin ,Genetics ,Humans ,Internalization ,Molecular Biology ,Genes, Dominant ,rab5 GTP-Binding Proteins ,media_common ,chemistry.chemical_classification ,Endocytosi ,rab4 GTP-Binding Proteins ,Transferrin ,rab7 GTP-Binding Proteins ,Cell Biology ,Cell Compartmentation ,Cell biology ,Lipoproteins, LDL ,Protein Transport ,Biophysic ,chemistry ,rab GTP-Binding Proteins ,Mutagenesis, Site-Directed ,Rab GTPase ,HeLa Cells - Abstract
The small GTPases Rab4, Rab5 and Rab7 are endosomal proteins which play important roles in the regulation of various stages of endosomal trafficking. Rab4 and Rab5 have both been localized to early endosomes and have been shown to control recycling and endosomal fusion, respectively. Rab7, a marker of the late endosomal compartment, is involved in the regulation of the late endocytic pathway. Here, we compare the role of Rab4, Rab5 and Rab7 in early and late endosomal trafficking in HeLa cells monitoring ligand uptake, recycling and degradation. Expression of the Rab4 dominant negative mutant (Rab4AS22N) leads to a significant reduction in both recycling and degradation while, as expected, Rab7 mutants exclusively affect epidermal growth factor (EGF) and low density lipoprotein degradation. As also expected, expression of the dominant negative Rab5 mutant perturbs internalization kinetics and affects both recycling and degradation. Expression of Rab4WT and dominant positive mutant (Rab4AQ67L) changes dramatically the morphology of the transferrin compartment leading to the formation of membrane tubules. These transferrin positive tubules display swellings (varicosities) some of which are positive for early endosomal antigen-1 and contain EGF. We propose that the Rab4GTPase is important for the function of the early sorting endosomal compartment, affecting trafficking along both recycling and degradative pathways.
- Published
- 2001
34. Dermatoscopic, Histological and Confocal Microscopic Analysis of a Kissing Nevus of the Penis.
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Bianchi A, Baldi A, Farabini A, Nibid L, Roberti V, Pellacani G, Kazakov DV, and Donati M
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Kissing nevus is a congenital melanocytic neoplasm arising in those parts of the body that split at some point during embryological development (i.e., eyelid; penis), resulting in two adjacent melanocytic nevi. To date, 23 cases of kissing nevus of the penis have been described, and dermatoscopic and histological findings are available in 4/23 cases. We report a dermatoscopic, histological and confocal microscopic analysis in a new case of the kissing nevus of the penis in a 57 years old man. Dermatoscopic analysis showed large globules in the central area and a peripheral pigment network; the histological examination confirmed the presence of an intradermal melanocytic nevus with minimal junctional component and congenital features. Moreover, we reported, for the first time, confocal microscopy findings in the kissing nevus of the penis, revealing the presence of dendritic cells in correspondence with the epidermis and suggesting a state of cellular activity. Considering the clinicopathological features of the lesion, a conservative approach was adopted, and a clinical follow-up was planned after six months.
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- 2023
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35. Melanoma and immunotherapy: the experience of Sapienza University of Rome.
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Bottoni U, Clerico R, Richetta AG, Panasiti V, Corsetti P, Roberti V, Paolino G, Moliterni E, Grassi S, and Calvieri S
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- Humans, Immunotherapy, Syndrome, Melanoma therapy
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- 2023
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36. Retrobulbar optic neuritis secondary to nivolumab therapy for metastatic melanoma in a 71-year-old patient affected by multiple sclerosis.
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Marraffa F, Dybala A, Grassi S, Rega F, Roberti V, Vizzaccaro A, Michelini S, Pellacani G, and Richetta AG
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- Aged, Humans, Nivolumab adverse effects, Melanoma drug therapy, Multiple Sclerosis drug therapy, Optic Neuritis chemically induced
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- 2022
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37. Unusual dermoscopic patterns of basal cell carcinoma mimicking melanoma.
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Di Matteo E, Pampena R, Pizzichetta MA, Cinotti E, Chester J, Kaleci S, Manfredini M, Guida S, Dika E, Moscarella E, Lallas A, Apalla Z, Argenziano G, Perrot JL, Tognetti L, Lai M, Cantisani C, Roberti V, Fiorani D, Baraldi C, Veneziano L, Papageorgiou C, Ciardo S, Rubegni P, Zalaudek I, Patrizi A, Longo C, Bianchi L, Pellacani G, and Farnetani F
- Subjects
- Dermoscopy methods, Diagnosis, Differential, Humans, Retrospective Studies, Sensitivity and Specificity, Carcinoma, Basal Cell diagnostic imaging, Carcinoma, Basal Cell pathology, Melanoma pathology, Skin Neoplasms pathology
- Abstract
Background: Basal cell carcinoma can simulate melanoma and specific dermoscopic criteria have not yet been defined in a large cohort., Objective: To identify dermoscopic "trump" characteristics for differential diagnosis, identify cluster groups and assess the clinical impact of this study's findings., Methods: Retrospective, multicentric comparative study of atypical, non-facial basal cell carcinoma (≥1 seven-point checklist criteria) and melanoma (with at least one BCC criteria) at dermoscopy. Observed dermoscopic features were used to develop a proposed score. Lesion clusters were defined with hierarchical analysis. Clinical impact was assessed with a blinded reader study following this study's results., Results: A total of 146 basal cell carcinoma and 76 melanoma were included. Atypical vascular pattern was common to most lesions (74.5%). Twelve trump features were included in the proposed score (sensitivity 94.1% and specificity 79.5%). Cluster analysis identified 3 basal cell carcinoma and 3 melanoma clusters. Findings improved overall diagnostic accuracy and confidence (26.8% and 13.8%, respectively; p < 0.001)., Conclusions: These findings support the notion that atypical vascular pattern should be considered a shared feature of both melanoma and atypical basal cell carcinoma. Our proposed score improves diagnostic accuracy and confidence. Absence of pigmented features was associated with lower diagnostic accuracy and confidence., (© 2022 The Authors. Experimental Dermatology published by John Wiley & Sons Ltd.)
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- 2022
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38. Neuroretinal dysfunction in patients affected by neurofibromatosis type 1.
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Moramarco A, Lucchino L, Mallone F, Marcelli M, Alisi L, Roberti V, Giustini S, Lambiase A, and Nebbioso M
- Abstract
Aim: To examine neuroretinal function by using the multifocal electroretinography (mfERG) test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs)., Methods: This study was conducted on 35 patients (35 eyes) with NF1 and 30 healthy subjects (30 eyes) for the control group. Each subject underwent a complete ophthalmological examination including spectral domain-optical coherence tomography (SD-OCT) and mfERG. The 1.5-Tesla magnetic resonance imaging (MRI) scan of the brain was performed in NF1 patients to assess the presence of OPGs. All participants were recruited having a best corrected visual acuity (BCVA) of no less than 20/20 in each eye. The amplitude and implicit time of the P1 wave (first-order Kernel component) were evaluated on mfERG. Data analysis was carried out in the two central degrees and in the four quadrants from two to 25 degrees of visual field., Results: Statistically significant results were obtained for the P1 wave amplitudes in the 4 quadrants in NF1 patients compared to healthy controls, while the reduction was not significant in the 2 central degrees between the groups. A statistically significant difference was observed among the P1 wave amplitudes as recorded in the 4 quadrants within the NF1 group, with lower amplitudes detected in the nasal quadrants. No differences in the implicit times were recorded in the 2 central degrees and in the 4 quadrants as compared between NF1 patients and controls., Conclusion: Impaired neuroretinal function in NF1 patients is expressed in a decreased amplitude of the P1-wave between 2 and 25 central retinal degrees on mfERG. Altered intracellular signal transduction due to abnormal neurofibromin-mediated cyclic adenosine monophosphate (cAMP) generation, can be involved. The possible use of mfERG as subclinical retinal damage indicator has a potential utility in clinical practice for the follow-up of NF1 patients., (International Journal of Ophthalmology Press.)
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- 2022
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39. A case of Cowden Syndrome associated with melanoma: the role of the dermatologist.
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Roberti V, Calvieri S, and Giustini S
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- Dermatologists, Humans, Hamartoma Syndrome, Multiple complications, Melanoma complications
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- 2021
- Full Text
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40. Basal cell carcinoma thickness evaluated by high-frequency ultrasounds and correlation with dermoscopic features.
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Coppola R, Barone M, Zanframundo S, Devirgiliis V, Roberti V, Perrella E, Donati M, Palese E, Tenna S, Persichetti P, and Panasiti V
- Subjects
- Dermoscopy, Humans, Ultrasonography, Carcinoma, Basal Cell diagnostic imaging, Skin Neoplasms diagnostic imaging
- Abstract
Background: Basal cell carcinoma (BCC) is the most common skin cancer, and it can be easily treated by surgery or by various other physical modalities and topical chemotherapy. For metastatic, locally advanced BCC and for cancers that cannot be removed by surgery, systemic drugs known as hedgehog pathway blocker are used. High-frequency ultrasound (HFUS) is a non- invasive technique used in diagnosis of some skin cancers. It has proven potentially useful for BCC management. In this study we used high frequency ultrasounds to evaluate BCCs' thickness and the correlation with dermoscopic features., Methods: We examined 86 basal cell carcinomas with dermoscopy and with high-frequency ultrasound. The main patterns identified by ultrasound were linear, ellipsoid and non-specific or undefined. Patients were divided by sex and age. The BCCs were grouped by anatomic location. Finally, we recorded specific dermoscopic features of BCCs noting their presence/absence in lesions overall and in each of four quadrants. Then the lesions were excised, and histological examination was made with definition of tumor thickness (in mm)., Results: In our study, two main echographic patterns were described: linear, associated with superficial BCC, and ellipsoid, found primarily in nodular variants. However, a small percentage of lesions have otherwise non-specific patterns. We observed a significant correlation between echographic tumor thickness and histotype. We observed high concordance between histological tumor thickness and ultrasounds. Also, dermoscopic criteria as large branching and blue ovoid nests were significantly associated with heightened histologic and echographic assessments of tumor thickness., Conclusions: Our study confirmed the utility of ultrasound in the diagnosis of BCCs and for the first time we have correlated ultrasounds' patterns with dermoscopy and tumor thickness.
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- 2021
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41. Expression of estrogen receptors in Spitz and Reed nevi.
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Panasiti V, Barone M, Coppola R, Devirgiliis V, Roberti V, Persichetti P, Carotti S, and Morini S
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- Adolescent, Diagnosis, Differential, Female, Humans, Immunohistochemistry, Male, Receptors, Estrogen, Nevus, Skin Neoplasms diagnosis
- Abstract
Background: Estrogens play a key role in the skin. They are associated with an increased production of melanin, proliferation of melanocytes, increased skin thickness and increased cutaneous vascularization. Spitz and Reed nevi are acquired melanocytic lesions that generally develop during childhood or adolescence, a period of changes in sex hormones background. Our study project aimed at investigating, through immunohistochemical analysis, the expression levels of ERß receptors and their expression patterns (cytoplasmic or nuclear) in Spitz and Reed nevi., Methods: In our study, we collected a total of 86 melanocytic lesions of patients: of these, 16 were common nevi, 23 were Spitz nevi, 18 were Reed nevi and 29 were melanomas. Expression curves for estrogen receptors were constructed using the Kaplan-Meier method and compared using a log-rank test. Statistical analysis was performed using MedCalc® (MedCalc Software, Ostend, Belgium). Immunohistochemical analysis on all histological sections of nevi and melanomas was performed to evaluate the expression levels of of ERß and their expression patterns (cytoplasmic or nuclear). The agreement between the operators was calculated using Fleiss κ values., Results: The correlation between immunoreactivity for the β-estrogen receptor and the sex of patients with Spitz and Reed nevi showed that immunoreactivity was higher in male patients. The correlation between β-estrogen receptor immunoreactivity and patient age for Spitz and Reed nevi showed no statistically significant correlation. Correlation between immunoreactivity for the β-estrogen receptor and histotype: Spitz and Reed nevi showed a high intensity, while in common nevi and in melanomas the immunoreactive was low. The correlation between receptor immunoreactivity for β estrogens and Breslow thickness in melanomas indicated that Breslow thickness of non-immunoreactive melanomas for ERβ was much higher than those showing high immunoreactivity for this receptor., Conclusions: Spitz and Reed nevi express a higher immunoreactivity for estrogens than common nevi and melanomas, especially those with a high Breslow thickness; and immunoreactivity is higher in younger age groups.
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- 2021
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42. Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I.
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Moramarco A, Mallone F, Sacchetti M, Lucchino L, Miraglia E, Roberti V, Lambiase A, and Giustini S
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- Cafe-au-Lait Spots diagnosis, Female, Fundus Oculi, Humans, Ophthalmoscopy, Neurofibromatosis 1 diagnosis, Optic Nerve Glioma
- Abstract
Background: Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It is caused by mutation in the NF1 gene on chromosome 17 encoding for neurofibromin, a protein with oncosuppressive activity, and it is 50% sporadic or inherited. The disease is characterized by a broad spectrum of clinical manifestations, mainly involving the nervous system, the eye and skin, and a predisposition to develop multiple benign and malignant neoplasms. Ocular diagnostic hallmarks of NF1 include optic gliomas, iris Lisch nodules, orbital and eyelid neurofibromas, eyelid café-au-lait spots. Choroidal nodules and microvascular abnormalities have recently been identified as additional NF1-related ocular manifestations. The present study was designed to describe the features and clinical significance of a new sign related to the visual apparatus in NF-1, represented by hyperpigmented spots (HSs) of the fundus oculi., Results: HSs were detected in 60 (24.1%) out of 249 patients with NF1, with a positive predictive value of 100% and a negative predictive value of 44.2%. None of the healthy subjects (150 subjects) showed the presence of HSs. HSs were visible under indirect ophthalmoscopy, ultra-wide field (UWF) pseudocolor imaging and red-only laser image, near-infrared reflectance (NIR)-OCT, but they were not appreciable on UWF green reflectance. The location and features of pigmentary lesions matched with the already studied NF1-related choroidal nodules. No significant difference was found between the group of patients (n = 60) with ocular HSs and the group of patients (n = 189) without ocular pigmented spots in terms of age, gender or severity grading of the disease. A statistically significant association was demonstrated between the presence of HSs and neurofibromas (p = 0.047), and between the presence of HSs and NF1-related retinal microvascular abnormalities (p = 0.017)., Conclusions: We described a new ocular sign represented by HSs of the fundus in NF1. The presence of HSs was not a negative prognostic factor of the disease. Following multimodal imaging, we demonstrated that HSs and choroidal nodules were consistent with the same type of lesion, and simple indirect ophthalmoscopy allowed for screening of HSs in NF1.
- Published
- 2021
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43. Cutaneous manifestations in neurofibromatosis type 1.
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Miraglia E, Moliterni E, Iacovino C, Roberti V, Laghi A, Moramarco A, and Giustini S
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Humans, Italy epidemiology, Male, Middle Aged, Neurofibromatosis 1 pathology, Prevalence, Skin Diseases epidemiology, Skin Diseases pathology, Young Adult, Neurofibromatosis 1 complications, Skin Diseases etiology
- Abstract
Objective: To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1., Materials and Methods: We reviewed all clinical charts of 1102 NF1 patients followed by February 1983 to February 2020 at the "Sapienza" University of Rome, Italy. NF1 patients are seen usually every year by a dermatologist., Result: Café-au-lait macules were shown in 1063 patients (96.5%), axillary and inguinal freckling in 991 (90%) and neurofibromas in 861 (78.1%). Other skin manifestations included: lipoma (6.2%), nevus anemicus (3.9%), psoriasis (3.4%), spilus nevus (3.2%), juvenile xanthogranuloma (3.2%), vitiligo (2.3%), Becker's nevus (1.9%), melanoma (0.7%) and poliosis (0.5%)., Conclusion: Neurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system. The clinical manifestations are extremely variable even within a family. This study was performed to delineate the prevalence of cutaneous manifestations in NF1.
- Published
- 2020
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44. Ultrastructure study of skin fibroblasts in patients with Ehlers-Danlos Syndrome (EDS): preliminary results.
- Author
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Celli M, Iacovino C, Febbo A, Lotti LV, Miraglia E, Celli L, Roberti V, Sernicola A, Zambrano A, Turchetti A, Vespa S, and Giustini S
- Subjects
- Actins metabolism, Adult, Collagen ultrastructure, Ehlers-Danlos Syndrome metabolism, Humans, Ehlers-Danlos Syndrome pathology, Fibroblasts ultrastructure, Skin ultrastructure
- Abstract
Aim of the Study: To investigate, in vivo and in vitro, the fibroblast-to-myofibroblast transition in patients with hypermobile Ehlers-Danlos Syndrome (EDS). To analyze the dermis of patients with classical form of EDS (cEDS) and with hEDS, to identify qualitative and/or quantitative differences in ECM component and ultrastructural changes in collagen., Materials and Methods: Seven subjects, aged over 18, two with cEDS and five with hEDS underwent two skin biopsy. One sample was prepared for transmission electron microscopy (TEM), the other for immunofluorescence. The diameter of collagen fibers was measured with TEM. Fibrils were analyzed in four patients: the two with cEDS and two with hEDS. For each patient, the diameter of n=250 collagen fibrils was measured. αSMA was used as specific marker for myofibroblast to highlight their presence in vivo in the skin of patients with hEDS., Result: IF observation could not assess an increased expression of αSMA in hEDS patients, which showed no statistical difference compared to classic form patients. The major result from the analysis of TEM images is the clear difference in ECM composition between the two forms of EDS: ECM in hEDS is optically more dense and more prominently composed of elastic fibers., Conclusion: Our study provides the following important evidence: 1) the absence in vivo of dermal fibroblasts in patients with hEDS, demonstrated by αSMA negativity; 2) the presence of statistically significant changes in the diameter of collagen fibrils between the classic and the hypermobile forms.
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- 2020
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45. A case of basal cell carcinoma in a young patient with incontinentia pigmenti.
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Coppola R, Devirgiliis V, Carbotti M, Zanframundo S, Roberti V, and Panasiti V
- Subjects
- Carcinoma, Basal Cell pathology, Female, Humans, Skin Neoplasms pathology, Young Adult, Carcinoma, Basal Cell complications, Incontinentia Pigmenti complications, Skin Neoplasms complications
- Published
- 2020
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46. Poliosis circumscripta in association with neurofibromatosis type 1: only a coincidence?
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Miraglia E, Roberti V, Lopez T, Iacovino C, Calvieri S, and Giustini S
- Subjects
- Adult, Hair Diseases etiology, Humans, Male, Middle Aged, Pigmentation Disorders etiology, Hair Diseases diagnosis, Neurofibromatosis 1 complications, Pigmentation Disorders diagnosis
- Published
- 2020
- Full Text
- View/download PDF
47. Retinal microvascular abnormalities in neurofibromatosis type 1.
- Author
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Moramarco A, Miraglia E, Mallone F, Roberti V, Iacovino C, Bruscolini A, Giustolisi R, and Giustini S
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Cafe-au-Lait Spots diagnosis, Child, Cross-Sectional Studies, False Positive Reactions, Female, Humans, Infrared Rays, Magnetic Resonance Imaging, Male, Microvessels pathology, Middle Aged, Optic Nerve Glioma diagnosis, Predictive Value of Tests, Prospective Studies, Reproducibility of Results, Sensitivity and Specificity, Tomography, Optical Coherence, Young Adult, Neurofibromatosis 1 diagnosis, Retinal Diseases diagnosis, Retinal Vessels pathology
- Abstract
Purpose: The aim of this study was to provide a classification of the different retinal vascular arrangements in neurofibromatosis 1 (NF1), with appropriate qualitative and quantitative information., Methods: This study was conducted on 334 consecutive patients with NF1 and 106 sex-matched and age-matched healthy control subjects. Each patient underwent a comprehensive ophthalmological examination inclusive of near-infrared reflectance retinography by using the spectral domain Optical coherence tomography (OCT), a complete dermatological examination and 1.5 T MRI scan of the brain to assess the presence of optic nerve gliomas. To evaluate the predictability and the diagnostic accuracy of our identified retinal microvascular arrangements, we calculated the diagnostic indicators for each pattern of pathology, with corresponding 95% CI. In addition, we evaluated the association between the microvascular arrangements and each National Institutes of Health diagnostic criteria., Results: Microvascular abnormalities were detected in 105 of 334 NF1 patients (31.4%), the simple vascular tortuosity was recognised in 78 of 105 cases (74.3%) and whether the corkscrew pattern and the moyamoya-like type showed a frequency of 42.8% (45 of 105 cases) and 15.2% (16 of 105 cases), respectively. We found a statistically significant correlation between the presence of retinal microvascular abnormalities and the patient age (p=0.02) and between the simple vascular tortuosity, the patient age and the presence of neurofibromas (p=0.002 and p=0.05, respectively)., Conclusions: We identified microvascular alterations in 31.4% of patients and a statistically significant association with patient age. Moreover, the most frequent type of microvascular alterations, the simple vascular tortuosity, resulted positively associated with age and with the presence of neurofibromas., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2019
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48. Ocular manifestations in Gorlin-Goltz syndrome.
- Author
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Moramarco A, Himmelblau E, Miraglia E, Mallone F, Roberti V, Franzone F, Iacovino C, Giustini S, and Lambiase A
- Subjects
- Adolescent, Adult, Aged, Basal Cell Nevus Syndrome genetics, Carcinoma, Basal Cell genetics, Carcinoma, Basal Cell pathology, Cataract genetics, Cataract pathology, Coloboma genetics, Coloboma pathology, Eye Diseases genetics, Female, Humans, Hypertelorism genetics, Hypertelorism pathology, Male, Middle Aged, Patched-1 Receptor genetics, Young Adult, Basal Cell Nevus Syndrome pathology, Eye Diseases pathology
- Abstract
Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene, and is characterized by a wide range of developmental abnormalities and a predisposition to multiple neoplasms. The manifestations are multiple and systemic and consist of basal cell carcinomas in various regions, odontogenic keratocistic tumors and skeletal anomalies, to name the most frequent. Despite the scarce medical literature on the topic, ocular involvement in this syndrome is frequent and at the level of various ocular structures. Our study focuses on the visual apparatus and its annexes in subjects with this syndrome, in order to better understand how this syndrome affects the ocular system, and to evaluate with greater accuracy and precision the nature of these manifestations in this group of patients., Results: Our study confirms the presence of the commonly cited ocular findings in the general literature regarding the syndrome [hypertelorism (45.5%), congenital cataract (18%), nystagmus (9%), colobomas (9%)] and highlights strabismus (63% of the patients), epiretinal membranes (36%) and myelinated optic nerve fiber layers (36%) as the most frequent ophthalmological findings in this group of patients., Conclusions: The presence of characteristic and frequent ocular signs in the Gorlin- Goltz syndrome could help with the diagnostic process in subjects suspected of having the syndrome who do not yet have a diagnosis. The ophthalmologist has a role as part of a multidisciplinary team in managing these patients. The ophthalmological follow-up that these patients require, can allow, if necessary, a timely therapy that could improve the visual prognosis of such patients.
- Published
- 2019
- Full Text
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49. The fragile X mental retardation protein regulates tumor invasiveness-related pathways in melanoma cells.
- Author
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Zalfa F, Panasiti V, Carotti S, Zingariello M, Perrone G, Sancillo L, Pacini L, Luciani F, Roberti V, D'Amico S, Coppola R, Abate SO, Rana RA, De Luca A, Fiers M, Melocchi V, Bianchi F, Farace MG, Achsel T, Marine JC, Morini S, and Bagni C
- Subjects
- Fragile X Mental Retardation Protein genetics, Humans, Neoplasm Invasiveness, Transfection, Fragile X Mental Retardation Protein metabolism, Melanoma metabolism, Melanoma pathology
- Abstract
The fragile X mental retardation protein (FMRP) is lacking or mutated in patients with the fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. FMRP affects metastasis formation in a mouse model for breast cancer. Here we show that FMRP is overexpressed in human melanoma with high Breslow thickness and high Clark level. Furthermore, meta-analysis of the TCGA melanoma data revealed that high levels of FMRP expression correlate significantly with metastatic tumor tissues, risk of relapsing and disease-free survival. Reduction of FMRP in metastatic melanoma cell lines impinges on cell migration, invasion and adhesion. Next-generation sequencing in human melanoma cells revealed that FMRP regulates a large number of mRNAs involved in relevant processes of melanoma progression. Our findings suggest an association between FMRP levels and the invasive phenotype in melanoma and might open new avenues towards the discovery of novel therapeutic targets.
- Published
- 2017
- Full Text
- View/download PDF
50. Insulin-like-growth-factor-binding-protein-3 (IGFBP-3) contrasts melanoma progression in vitro and in vivo.
- Author
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Naspi A, Panasiti V, Abbate F, Roberti V, Devirgiliis V, Curzio M, Borghi M, Lozupone F, Carotti S, Morini S, Gaudio E, Calvieri S, and Londei P
- Subjects
- Adult, Animals, Cell Differentiation drug effects, Cell Line, Tumor, Cell Movement drug effects, Cell Proliferation drug effects, Female, Glycogen Synthase Kinase 3 metabolism, Glycogen Synthase Kinase 3 beta, Humans, Insulin-Like Growth Factor Binding Protein 3 blood, Insulin-Like Growth Factor Binding Protein 3 pharmacology, Male, Melanocytes drug effects, Melanocytes pathology, Melanoma blood, Mice, Middle Aged, Neoplasm Invasiveness, Neoplasm Metastasis, Proto-Oncogene Proteins c-akt metabolism, Recombinant Proteins blood, Recombinant Proteins metabolism, Recombinant Proteins pharmacology, Signal Transduction drug effects, Survival Analysis, Tumor Microenvironment drug effects, Up-Regulation drug effects, Disease Progression, Insulin-Like Growth Factor Binding Protein 3 metabolism, Melanoma metabolism, Melanoma pathology
- Abstract
Insulin-like-factor-binding-protein 3 (IGFBP-3) is known to modulate the activity of insulin-like growth factors (IGFs) besides having a number of IGF-independent effects on cell growth and survival. IGFBP-3 has been reported to decrease significantly in the blood serum of patients affected by certain cancers. In the present work, we have evaluated the levels of IGFBP-3 in the blood serum and tissues of patients affected by cutaneous melanoma, showing that loss of IGFBP-3 from both is strongly correlated with disease progression and reduced survival. In vitro treatment with IGFBP-3 of human and murine metastatic melanoma cell lines specifically inhibited the cells' migratory and invasive behaviour, inducing up-regulation of melanocytic differentiation markers such as tyrosinase activity and melanin content. A molecular analysis of the cellular pathways transducing the effect of IGFBP-3 implicated the Akt-GSK3β axis. Moreover, administration of IGFBP-3 in vivo to SCID mice inoculated with human metastatic melanoma cells strongly reduced or completely inhibited tumor growth. In summary, IGFBP-3 appears to exert a specific inhibitory effect on melanoma growth and dissemination, suggesting that it may qualify as a useful therapeutic agent in melanomas and perhaps other cancers, at the least as a valid adjuvant therapy during treatment with conventional anti-tumoral drugs.
- Published
- 2014
- Full Text
- View/download PDF
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