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1. The effect of COVID-19 imposed lockdown on Italian children with Vernal Keratoconjunctivitis

Author

Artesani Maria Cristina, MD, Esposito Mariacristina, MD, Sacchetti Marta, MD, Mennini Maurizio, MD, Romanzo Antonino, MD, Buzzonetti Luca, MD, Fiocchi Alessandro Giovanni, MD, and Sansone Andrea, MD

Subjects
Allergy diagnosis, Quality-of-Life, Vernal keratoconjunctivitis, Conjunctivitis, Covid-19, Immunologic diseases. Allergy, RC581-607
Abstract

Background: Vernal keratoconjunctivitis (VKC) is a chronic, inflammatory-allergic disease of the cornea and conjunctiva. Environmental factors, such as light exposure, have been supposed to play a role in the pathogenesis of ocular inflammation and in the worsening of VKC. Objective: The aim of this study was to estimate the impact of reduced sunlight exposure in patients with VKC during the imposed lockdown period for the SARS-CoV-2 pandemic emergency. Methods: We retrospectively reviewed data of patients with VKC visited during spring season in 2020 and 2019 at Vernal Keratoconjunctivitis Multidisciplinar Outpatient of our Hospital.Subjective symptoms were evaluated by Visual analogue scale (VAS) and VKC severity was graded by Bonini scale. Quality of life was evaluated by Correlations of Quality of Life in Children with Vernal Keratoconjunctivitis (QUICK) questionnaire. The number of hours of e-learning as well as of hours spent in front of a bright screen (PC, TV, mobile, tablet play station, and so on) was also investigated. Results: Twenty-nine male subjects (mean ± SD age: 8.74 ± 2.40 years) with VKC were included in the study. Most of the patients (17/29) were sensitized individuals.No significant changes in Bonini severity score and in VAS evaluation were observed comparing 2020 to 2019 values. Ten (34.4%) patients did benefit from the reduced sunlight exposure. The increased use of bright screens was associated with worsening of VKC severity. Conclusions: Sunlight exposure plays a role in VKC exacerbation in about one third of patients. The number of hours spent in front of bright screens may influence severity of VKC symptoms.

Published
2022
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3. Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care

Author

Baban, Anwar, primary, Parlapiano, Giovanni, additional, Cicenia, Marianna, additional, Armando, Michela, additional, Franceschini, Alessio, additional, Pacifico, Concettina, additional, Panfili, Arianna, additional, Zinzanella, Gaetano, additional, Romanzo, Antonino, additional, Fusco, Adelaide, additional, Caiazza, Martina, additional, Perri, Gianluigi, additional, Galletti, Lorenzo, additional, Digilio, Maria Cristina, additional, Buonuomo, Paola Sabrina, additional, Bartuli, Andrea, additional, Novelli, Antonio, additional, Raponi, Massimiliano, additional, and Limongelli, Giuseppe, additional

Published
2024
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4. Congenital Malformations of the Eye: A Pictorial Review and Clinico-Radiological Correlations

Author

Guarnera, Alessia, primary, Valente, Paola, additional, Pasquini, Luca, additional, Moltoni, Giulia, additional, Randisi, Francesco, additional, Carducci, Chiara, additional, Carboni, Alessia, additional, Lucignani, Giulia, additional, Napolitano, Antonio, additional, Romanzo, Antonino, additional, Longo, Daniela, additional, Gandolfo, Carlo, additional, and Rossi-Espagnet, Maria Camilla, additional

Published
2024
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6. Proteomics of Aqueous Humor as a Source of Disease Biomarkers in Retinoblastoma

Author

Galardi, Angela, primary, Stathopoulos, Christina, additional, Colletti, Marta, additional, Lavarello, Chiara, additional, Russo, Ida, additional, Cozza, Raffaele, additional, Romanzo, Antonino, additional, Carcaboso, Angel M., additional, Locatelli, Franco, additional, Petretto, Andrea, additional, Munier, Francis L., additional, and Di Giannatale, Angela, additional

Published
2022
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7. Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

Author

Lodato, Valentina, primary, Parlapiano, Giovanni, additional, Calì, Federica, additional, Silvetti, Massimo Stefano, additional, Adorisio, Rachele, additional, Armando, Michela, additional, El Hachem, May, additional, Romanzo, Antonino, additional, Dionisi-Vici, Carlo, additional, Digilio, Maria Cristina, additional, Novelli, Antonio, additional, Drago, Fabrizio, additional, Raponi, Massimiliano, additional, and Baban, Anwar, additional

Published
2022
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11. Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome

Author

Lodi, Mariachiara, primary, Marrazzo, Antonio, additional, Cacchione, Antonella, additional, Macchiaiolo, Marina, additional, Romanzo, Antonino, additional, Mastronardi, Luciano, additional, Diomedi-Camassei, Francesca, additional, Carboni, Alessia, additional, Carai, Andrea, additional, Gandolfo, Carlo, additional, Monti, Lidia, additional, Mastronuzzi, Angela, additional, and Colafati, Giovanna Stefania, additional

Published
2021
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13. Incidence of Retinoblastoma Has Increased: Results from 40 European Countries

Author

Andrew W. Stacey, Richard Bowman, Allen Foster, Tero T. Kivelä, Francis L. Munier, Nathalie Cassoux, Ido Didi Fabian, Lamis Al Harby, Silvia Alarcón Portabella, Donjeta B. Alia, Charlotta All-Eriksson, Romanzo Antonino, Nicholas J. Astbury, Julia Balaguer, Walentyna Balwierz, Honorio Barranco, Covadonga Bascaran, Maja Beck Popovic, Eva M. Biewald, Nadia Bobrova, Norbert Bornfeld, Bénédicte G. Brichard, Sharon Blum, Michael Capra, Guilherme Castela, Jaume Català-Mora, Guillermo L. Chantada, Violeta S. Chernodrinska, Krzysztof Cieslik, Codruta Comsa, Maria G. Correa Llano, Monika Csóka, Patrick De Potter, Laurence Desjardins, Monica D. Dragomir, Ana Fernández-Teijeiro, David García Aldana, Pernille A. Gregersen, Nir Gomel, Theodora Hadjistilianou, Stanislava Hederova, Marlies Hummlen, Kristina Husakova, Russo Ida, Vesna R. Ilic, Helen Jenkinson, Noa Kapelushnik, Tamar Kardava, Naama Keren-Froim, Tomas Kepak, Zaza Khotenashvili, Artur Klett, Dalia Krivaitiene, Slobodanka Latinović, Livia Lumbroso, Lesia Lysytsia, Erika Maka, Nieves Martín Begue, Edoardo Midena, Annette C. Moll, Gabriela Murgoi, Larisa Naumenko, Vladimir Neroev, Marina Nikitovic, Andrzej Olechowski, Ruzanna Papyan, Raffaele Parrozzani, Manoj V. Parulekar, Katarzyna Pawinska-Wasikowska, Sanja Perić, Pavel Pochop, Vladimir G. Polyakov, M. Ashwin Reddy, Petra Ritter-Sovinz, Svetlana Saakyan, Mandeep S. Sagoo, Sonsoles San Román Pacheco, Stefan Seregard, Sónia Silva, Tetyana Sorochynska, Christina Stathopoulos, Branka Stirn Kranjc, Karel Svojgr, Gevorg Tamamyan, Alketa Tandili, Bekim Tateshi, Manca Tekavcic Pompe, Steen F. Urbak, Tatiana L. Ushakova, Sandra Valeina, Milo van Hoefen Wijsard, Nevyana V. Veleva-Krasteva, Maris Viksnins, Werner Wackernagel, Charlotte Wolley Dod, Vera A. Yarovaya, Andrey A. Yarovoy, Katsiaryna Zhilyaeva, Marcia Zondervan, Ophthalmology, ACS - Diabetes & metabolism, APH - Health Behaviors & Chronic Diseases, APH - Quality of Care, CCA - Cancer Treatment and quality of life, CCA - Imaging and biomarkers, and Amsterdam Reproduction & Development (AR&D)

Subjects
Male, Pediatrics, medicine.medical_specialty, Adolescent, Retinal Neoplasms, MEDLINE, 03 medical and health sciences, 0302 clinical medicine, Familial, Genetic, Fitness, Medicine, Humans, Child, business.industry, Retinoblastoma, Incidence (epidemiology), Incidence, Infant, Newborn, Infant, medicine.disease, Europe, Ophthalmology, Cross-Sectional Studies, 030220 oncology & carcinogenesis, Child, Preschool, 030221 ophthalmology & optometry, Female, business
Published
2021

14. Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries

Author

Tero Kivelä, Marina Nikitovic, Dalia Krivaitiene, Tamar Kardava, Stefan Seregard, Kristína Husáková, Fousseyni Traore, Claude Moreira, Vera Yarovaya, Donjeta B. Alia, Chatonda Manda, Mariana Kruger, Ghislaine Obono-Obiang, Argentino A. Almeida, Nevyana V. Veleva-Krasteva, Petra Ritter-Sovinz, Bekim Tateshi, Dupe S Ademola-Popoola, Sanja Perić, Oluyemi Fasina, Jennifer Geel, Steen F Urbak, Grace Ssali, Katsiaryna Zhilyaeva, Nieves Martín Begue, Aemero A. Mengesha, Gerald Msukwa, Larisa Naumenko, Monica D. Dragomir, Gabrielle C. Bouda, P. Kemilev, Henry Nkumbe, Amany M. Ali, Slobodanka Latinović, Amaria Boumedane, Ido Didi Fabian, Jaume Català-Mora, Walentyna Balwierz, Theodora Hadjistilianou, Marlies Hummlen, Laila Hessissen, Shelley J. Biddulph, Vesna R. Ilic, Okwen M. Muyen, Michael Capra l, Edoardo Midena, Shehu U. Abdullahi, Ruzanna Papyan, Allen Foster, Annette C. Moll, Laurence Desjardins, Covadonga Bascaran, Sónia Silva, Ahmed A. Mohamedani, Krzysztof Cieslik, Naama Keren-Froim, Milo van Hoefen Wijsard, Mahmoud M. Elzembely, Marchelo Matua, Sidi Sidi Cheikh, Charlotta All-Eriksson, Ana Fernández-Teijeiro, Furahini G. Mndeme, Karin Lecuona, David Garcia Aldana, Katarzyna Pawinska-Wasikowska, Maja Beck Popovic, Léa Raobela, Vladimir Neroev, Remezo Philbert, Kareem Olatunbosun Musa, Gita Naidu, Mutale Nyaywa, Rolande L. Kabore, Shirley Sharabi, Erika Maka, Abubakar Kalinaki, Alaa Elhaddad, Charlotte Wolley Dod, Stanislava Hederová, Jenny M. Yanga, Nissrine Bennani Guebessi, Helen Jenkinson, Sally Painter, Russo Ida, Werner Wackernagel, Harba Tyau-Tyau, Honorio Barranco, Sadik Taju Sherief, Diriba F. Hordofa, Jonathan J. Pons, Bénédicte Brichard, David K Stones, Guilherme Castela, S.V. Saakyan, Peter Osei-Bonsu, Amal M. Elbahi, Zelalem Gizachew, Codruta Comsa, Ali Bala Umar, Mussagy M. Riheia, Manca Tekavčič Pompe, Elhassan Abdallah, Noa Kapelushnik, Sadiq Hassan, Magritha Du Bruyn, Rose Atsiaya, Robert M Lukamba, Tomáš Kepák, Freddy B. Mbumba, Karel Svojgr, Asmaa El Kettani, Branka Stirn Kranjc, Monika Csóka, Norbert Bornfeld, Pavel Pochop, Sonsoles San Roman Pacheco, Silvia Alarcón Portabella, Amelia D.C. Wime, Ngozi C Oguego, Keith M. Waddell, Nathalie Cassoux, Dina Elgalaly, Eva Biewald, Fatoumata Sylla, Pernille Axel Gregersen, Hamzah Mustak, Lamis Al Harby, Ada Aghaji, Othman Ao Ziko, Sharon Blum, Theophile B Amani Kabesha, Nick Astbury, Rokia C. Berete, Andrew W. Stacey, V.G. Polyakov, Kangwa I. Muma, Marianna Boehme, Vivian Paintsil, Richard Bowman, Vera Adobea Essuman, Koffi M. Guedenon, Amina H Wali Nigeria, Julia Balaguer, Maris Viksnins, Ismail Mayet, Tetyana Sorochynska, Patrick De Potter, Alketa Tandili, Lesia Lysytsia, Tatiana L Ushakova, Judy Schoeman, Sandra Valeina, Moawia Mohammed Ali Elhassan, Moira Gandiwa, Alice Kyara, M. Ashwin Reddy, Livia Lumbroso, Isac V. Da Gama, Marcia Zondervan, Zaza Khotenashvili, Hédi Bouguila, Azza Ma Said, Nadia Bobrova, Faraja S. Chiwanga, Christina Stathopoulos, Alan Davidson, Sarra Benmiloud, Francis L. Munier, Mayuri Makan, Eva S Lachmann, Gevorg Tamamyan, Romanzo Antonino, Ibrahim O. Matende, Guillermo Chantada, AO Adio, Jess Elio Kosh Komba Palet, Manoj Parulekar, Luisa Paiva, Trish A. Scanlan, Nir Gomel, Khalifa M. Alsawidi, Artur Klett, Violeta Chernodrinska, Ekhtelbenina Zein, Mandeep S. Sagoo, Sahadatou Adamou Boubacar, A. Oscar, Raffaele Parrozzani, McHikirwa S. Msina, David Reynders, Elizabeth D Nkanga, Gabriela Murgoi, Andrey A. Yarovoy, Dahiru Ribadu, PD Wade, Amadou I. Alfa Bio, Lorna Renner, Ted Grimbert A. Evina, Paule Aïda Ndoye Roth, Maria G. Correa Llano, Tuyisabe Theophile, and Andrzej Olechowski

Subjects
medicine.medical_specialty, Referral, Epidemiology, Retinal Neoplasms, Medizin, Disease, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Risk Factors, Neoplasia, Medicine, Humans, business.industry, Retinoblastoma, Extraocular Retinoblastoma, medicine.disease, eye diseases, Sensory Systems, 3. Good health, Ophthalmology, Cross-Sectional Studies, 030220 oncology & carcinogenesis, Africa, 030221 ophthalmology & optometry, Health education, Residence, Presentation (obstetrics), Epidemiology, Neoplasia, business, human activities, Demography
Abstract

BackgroundThe travel distance from home to a treatment centre, which may impact the stage at diagnosis, has not been investigated for retinoblastoma, the most common childhood eye cancer. We aimed to investigate the travel burden and its impact on clinical presentation in a large sample of patients with retinoblastoma from Africa and Europe.MethodsA cross-sectional analysis including 518 treatment-naïve patients with retinoblastoma residing in 40 European countries and 1024 treatment-naïve patients with retinoblastoma residing in 43 African countries.ResultsCapture rate was 42.2% of expected patients from Africa and 108.8% from Europe. African patients were older (95% CI −12.4 to −5.4, pConclusionsFewer than half the expected number of patients with retinoblastoma presented to African referral centres in 2017, suggesting poor awareness or other barriers to access. Despite the relatively shorter distance travelled by African patients, they presented with later-stage disease. Health education about retinoblastoma is needed for carers and health workers in Africa in order to increase capture rate and promote early referral.

Published
2020

16. Proteomic Profiling of Retinoblastoma-Derived Exosomes Reveals Potential Biomarkers of Vitreous Seeding

Author

Galardi, Angela, primary, Colletti, Marta, additional, Lavarello, Chiara, additional, Di Paolo, Virginia, additional, Mascio, Paolo, additional, Russo, Ida, additional, Cozza, Raffaele, additional, Romanzo, Antonino, additional, Valente, Paola, additional, De Vito, Rita, additional, Pascucci, Luisa, additional, Peinado, Hector, additional, Carcaboso, Angel M., additional, Petretto, Andrea, additional, Locatelli, Franco, additional, and Di Giannatale, Angela, additional

Published
2020
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19. Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

Author

Grotta, Simona, primary, D’Elia, Gemma, additional, Scavelli, Rossana, additional, Genovese, Silvia, additional, Surace, Cecilia, additional, Sirleto, Pietro, additional, Cozza, Raffaele, additional, Romanzo, Antonino, additional, De Ioris, Maria Antonietta, additional, Valente, Paola, additional, Tomaiuolo, Anna Cristina, additional, Lepri, Francesca Romana, additional, Franchin, Tiziana, additional, Ciocca, Laura, additional, Russo, Serena, additional, Locatelli, Franco, additional, and Angioni, Adriano, additional

Published
2015
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21. Two novel cases of trilateral retinoblastoma: genetics and review of the literature

Author

D'Elia, Gemma, Grotta, Simona, Del Bufalo, Francesca, De Ioris, Maria Antonietta, Surace, Cecilia, Sirleto, Pietro, Romanzo, Antonino, Cozza, Raffaele, Locatelli, Franco, Angioni, Adriano, Locatelli, Franco (ORCID:0000-0002-7976-3654), D'Elia, Gemma, Grotta, Simona, Del Bufalo, Francesca, De Ioris, Maria Antonietta, Surace, Cecilia, Sirleto, Pietro, Romanzo, Antonino, Cozza, Raffaele, Locatelli, Franco, Angioni, Adriano, and Locatelli, Franco (ORCID:0000-0002-7976-3654)

Abstract

Retinoblastoma (RB) is the most common eye tumor in children; it originates from germline and/or somatic mutations that inactivate both alleles of the RB1 gene located on chromosome 13q14. Patients with unilateral or bilateral RB infrequently may develop an additional intracranial neuroblastic tumor, usually in the pineal gland, which characterizes the trilateral retinoblastoma (TRB) syndrome. The most common chromosomal abnormalities detected in TRB are deletions at 13q14, even if some rare cases of RB1 point mutations were described. In our report, we investigated two patients with TRB who showed a germline RB1 point mutation that has never been found to date and a large deletion involving RB1, respectively. Genetic data were compared to our in-house series and to current literature; these data suggested a role for other candidate regions in the pathogenesis of TRB. Moreover, our study highlights the need for new approaches allowing a multigenic analysis to clarify the genotype-phenotype correlation in TRB. (C) 2013 Elsevier Inc. All rights reserved.

Published
2013

22. Congenital cystic eye associated with a low-grade cerebellar lesion that spontaneously regressed.

Author

Giuseppina Cefalo, Maria, Colafati, Giovanna Stefania, Romanzo, Antonino, Modugno, Alessandra, De Vito, Rita, and Mastronuzzi, Angela

Subjects
PRECANCEROUS conditions, OCULAR manifestations of general diseases, MAGNETIC resonance imaging
Abstract

Background Congenital cystic eye is an exceedingly rare ocular malformative disease, originated from the failure in the invagination of the optic vesicle during the fetal period and it can be associated with other ocular and non-ocular abnormalities. Diagnosis is based on clinical, radiological and histological features. Case presentation We report a case of a congenital cystic eye associated with a cerebellar lesion accidentally detected at magnetic resonance imaging. Biopsy of the mass has not been performed due to parental rejection. Based on radiologic features and absence of clinical signs, a low-grade glioma diagnosis was hypothesized, but histological characterization was not obtained. Follow-up neuro-imaging 6 months after diagnosis showed that intracranial lesion spontaneously regressed without any treatment. Conclusion Our report stresses the importance of early MRI in children with ocular malformations, in order to detect associated intracranial defects, also of non-malformative origin. Additionally, we debate the clinic-radiological features of the intracranial lesions that could allow a waitand- see policy. We also recommend a strict clinical and neuro-imaging follow-up for these lesions. Finally, biological mechanisms at the base of spontaneous regression of the brain lesions are discussed. [ABSTRACT FROM AUTHOR]

Published
2014
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24. Baseline central nervous system magnetic resonance imaging in early detection of trilateral retinoblastoma: pitfalls in the diagnosis of pineal gland lesions.

Author

De Ioris MA, Valente P, Randisi F, Buzzonetti L, Carai A, Cozza R, Del Bufalo F, Romanzo A, Angioni A, Cacchione A, Bernardi B, and Mastronuzzi A

Subjects
Early Detection of Cancer methods, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Retinoblastoma cerebrospinal fluid, Brain Neoplasms diagnosis, Pineal Gland pathology, Pinealoma diagnosis, Retinal Neoplasms diagnosis, Retinoblastoma diagnosis
Abstract

Background: Trilateral retinoblastoma (TRB) is a rare disease associating bilateral retinoblastoma (RB) with primitive intracranial neuroblastic tumor., Aim: To verify the occurrence of TRB in a single-Center case series and point out the clinical relevance of a baseline brain magnetic resonance imaging (MRI) in RB, focusing on pineal gland lesions., Patients and Methods: Baseline MRI was routinely performed in all cases of RB from 1999. All MRIs were reviewed for this study and the RB database was checked in order to identify patients characteristics, treatments and follow-up., Results: A total of 107 patients with RB were diagnosed between 1999 and 2012. Sixty-two patients had unilateral RB and 45 bilateral RB. MRI revealed the presence of pineal gland lesions in 10 patients (9%); seven were considered pineal benign cysts (6.5%), while in three patients (2.8%), TRB was suspected. All patients with TRB presented hereditary RB. In one patient, the suspected TRB was metachronous and in the other two patients was synchronous. Biopsy was not performed. Cerobrospinal fluid (CSF) was negative in all patients. The MRI modification, before treatment in the first case and later in the second case, confirmed the TRB diagnosis. The third patient died due to progressive Central Nervous System (CNS) disease that clearly confirmed the TRB diagnosis. None of the three patients had received prior chemotherapeutic treatment., Discussion: TRB represents a rare condition in this series, occurring in three (2.8%) out of all patients with RB. A synchronous presentation with small lesion seems more frequent when a baseline MRI is performed. When a histologically-proven diagnosis is not available, a suspected diagnosis should be considered with caution and only follow-up will confirm the diagnosis. A wait-and-see approach should be considered., (Copyright© 2014 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.)

Published
2014

25. Two novel cases of trilateral retinoblastoma: genetics and review of the literature.

Author

D'Elia G, Grotta S, Del Bufalo F, De Ioris MA, Surace C, Sirleto P, Romanzo A, Cozza R, Locatelli F, and Angioni A

Subjects
Child, Child, Preschool, Cytogenetics, Female, Genetic Association Studies, Humans, Infant, Male, Nucleic Acid Hybridization, Retinoblastoma pathology, Retinoblastoma genetics
Abstract

Retinoblastoma (RB) is the most common eye tumor in children; it originates from germline and/or somatic mutations that inactivate both alleles of the RB1 gene located on chromosome 13q14. Patients with unilateral or bilateral RB infrequently may develop an additional intracranial neuroblastic tumor, usually in the pineal gland, which characterizes the trilateral retinoblastoma (TRB) syndrome. The most common chromosomal abnormalities detected in TRB are deletions at 13q14, even if some rare cases of RB1 point mutations were described. In our report, we investigated two patients with TRB who showed a germline RB1 point mutation that has never been found to date and a large deletion involving RB1, respectively. Genetic data were compared to our in-house series and to current literature; these data suggested a role for other candidate regions in the pathogenesis of TRB. Moreover, our study highlights the need for new approaches allowing a multigenic analysis to clarify the genotype-phenotype correlation in TRB., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Published
2013
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