Search

Your search keyword '"Antonino, Romanzo"' showing total 23 results
Start Over Author "Antonino, Romanzo"
23 results on '"Antonino, Romanzo"'

1. Congenital Malformations of the Eye: A Pictorial Review and Clinico-Radiological Correlations

Author

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

Subjects
Ophthalmology, RE1-994
Abstract

Congenital malformations of the eye represent a wide and heterogeneous spectrum of abnormalities that may be part of a complex syndrome or be isolated. Ocular malformation severity depends on the timing of the causative event during eye formation, ranging from the complete absence of the eye if injury occurs during the first weeks of gestation, to subtle abnormalities if the cause occurs later on. Knowledge of ocular malformations is crucial to performing a tailored imaging protocol and correctly reporting imaging findings. Together with the ophthalmologic evaluation, imaging may help frame ocular malformations and identify underlying genetic conditions. The purpose of this pictorial review is to describe the imaging features of the main ocular malformations and the related ophthalmologic findings in order to provide a clinico-radiological overview of these abnormalities to the clinical radiologist. Sight is a crucial sense for children to explore the world and relate with their parents from birth. Vision impairment or even blindness secondary to ocular malformations deeply affects children’s growth and quality of life.

Published
2024
Full Text
View/download PDF

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

Author

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

Subjects
Marfan Syndrome, children, multidisciplinary management, variability, multisystemic, personalized approach, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.

Published
2024
Full Text
View/download PDF

3. The Versatility of the Free Vastus Lateralis Muscle Flap: Orbital Reconstruction After Removal of Complex Vascular Malformation in a Pediatric Patient

Author

Francesca Grussu, Luigino Santecchia, Urbano Urbani, Giorgio Spuntarelli, Massimo Rollo, May El Hachem, Antonino Romanzo, and Mario Zama

Subjects
vascular orbital lesions, orbital reconstruction, pediatric microsurgery, vastus lateralis free flap, pediatric orbital reconstruction, vascular malformation, Pediatrics, RJ1-570
Abstract

Introduction: Vascular orbital lesions in pediatric population represent a demanding therapeutic challenge which requires a multidisciplinary team. In severe cases, orbital enucleation can be considered. Surgical management of enucleated orbital region in children, differently from the adults, represents a challenging procedure owing to the intrinsic relation between volume replacement and normal orbital growth. Many reconstructive options have been proposed, and many donor sites have been utilized for this purpose but each one have demonstrated potential disadvantages. Despite its well-known versatility, no report of the vastus lateralis free flap in children requiring orbital reconstruction exists in literature. Herein, we propose this surgical strategy as a valid option for the reconstruction of an extended orbital defect in a pediatric patient suffering from a mixed type of vascular malformation.Material and Methods: A patient was referred from a foreign country with an unclear medical history, presenting exorbitism and exophthalmos, proptosis of the eyeball, visus 4/10, and limited ocular motility. We made clinical-instrumental investigations with a diagnosis of complex vascular malformation. It expanded in intraorbital and retrorbital space with bulb anterior dislocation and optic nerve involvement. We performed an emptying of the orbital content via transconjunctival and via coronal incision with eyelid preservation. A free vastus lateralis muscle flap was used for reconstruction, filling the orbital cavity. We anastomosed the flap on the superficial temporal artery. An ocular conformator was then positioned.Results: We report the result at 12 months, showing a good orbital rehabilitation with an adequate prosthetic cavity, a good recovery of volume and facial symmetry, guaranteeing balanced orbital and periorbital growth. There were no major or minor complications associated with the procedure.Discussion: The reconstruction of the orbit remains a “surgical challenge” both in adults, whose goal is the restoration of volume, adequate symmetry and facial esthetics, and children, in which correcting the asymmetry has the additional objective to balance orbital growth. Many reconstructive techniques have been proposed, including the use of free flaps. The versatility of the free vastus lateralis muscle flap is well-known. It offers adequate amount of tissue with minimal morbidity to the donor site, provides a long pedicle, gives the possibility of simultaneous work in a double team, and has a constant anatomy and a safe and rapid dissection. There are no descriptions of its use for pediatric orbital reconstructions.Conclusions: In our opinion, the free vastus lateralis flap should be included as one of the best option for orbital pediatric reconstruction after enucleation.

Published
2021
Full Text
View/download PDF

4. The impact of IGF-I, puberty and obesity on early retinopathy in children: a cross-sectional study

Author

Carla Bizzarri, Stefania Pedicelli, Antonino Romanzo, Sarah Bocchini, Giorgia Bottaro, Stefano Cianfarani, and Marco Cappa

Subjects
Obesity, Retinopathy, Puberty, IGF-I, Child, Pediatrics, RJ1-570
Abstract

Abstract Background Childhood obesity has been correlated with coronary heart disease, but the correlation with microvascular disease remains unclear. The retinal microcirculation is affected early in the process of atherosclerosis and it offers the opportunity to indirectly study the effects of obesity on small brain vessels. Insulin-like growth factor 1 (IGF-I) is involved in angiogenesis and it has a crucial role in retinal vascularization. Methods A single-centre cross-sectional study was performed in 268 children and adolescents (116 males; mean age 13.03 ± 1.9 years,) with overweight/obesity, in order to identify risk factors for early retinopathy. Results Nine patients (3.3%) showed signs of retinopathy, defined as arteriovenous crossings and/or papilledema. Body mass index and fat mass, analysed by Dual X-ray Absorptiometry, were not different in patients with or without retinopathy. Patients with retinopathy were pubertal and showed higher waist circumference (107.78 ± 15.83 versus 99.46 ± 10.85 cm; p: 0.027), waist circumference/height ratio (0.66 ± 0.07 versus 0.62 ± 0.05; p: 0.04) and IGF-I SDS (0.03 ± 1.3 versus − 0.66 ± 0.9; p: 0.04). Multivariate analysis (after correction for sex, age, family history of type 2 diabetes mellitus, obesity, cardiovascular disease, hypertension and dyslipidaemia) showed that waist circumference/height ratio and IGF-I SDS were the only variables independently correlated with the presence of retinopathy. Conclusions Retinal vascular changes may become evident as an early complication of overweight and obesity, even during childhood and adolescence. Relatively high levels of IGF-I during this phase may act as an additional risk factor for microvascular damage. The screening for retinopathy should be proposed to all children and adolescents with overweight/obesity.

Published
2019
Full Text
View/download PDF

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

Author

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

Subjects
cardiomyopathies, children, syndromes, heterogeneity, multisystemic, personalized approach, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Cardiomyopathy (CMP) is a rare disease in the pediatric population, with a high risk of morbidity and mortality. The genetic etiology of CMPs in children is extremely heterogenous. These two factors play a major role in the difficulties of establishing standard diagnostic and therapeutic protocols. Isolated CMP in children is a frequent finding, mainly caused by sarcomeric gene variants with a detection rate that can reach up to 50% of analyzed cohorts. Complex multisystemic forms of pediatric CMP are even more heterogenous. Few studies in literature take into consideration this topic as the main core since it represents a rarity (systemic CMP) within a rarity (pediatric population CMP). Identifying etiology in this cohort is essential for understanding prognosis, risk stratification, eligibility to heart transplantation and/or mechanical-assisted procedures, preventing multiorgan complications, and relatives’ recurrence risk calculation. The previous points represent a cornerstone in patients’ empowerment and personalized medical care approach. The aim of this work is to propose a new approach for an algorithm in the setting of the diagnostic framework of systemic pediatric CMP. On the other hand, during the literature review, we noticed a relatively common etiologic pattern in some forms of complex/multisystem CMP. In other words, certain syndromes such as Danon, Vici, Alström, Barth, and Myhre syndrome share a common pathway of directly or indirectly defective “autophagy” process, which appears to be a possible initiating/triggering factor for CMPs. This conjoint aspect could be important for possible prognostic/therapeutic implications in this category of patients. However, multicentric studies detailed functional and experimental models are needed prior to deriving conclusions.

Published
2022
Full Text
View/download PDF

6. Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome

Author

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

Subjects
hemangioblastomas, endolymphatic sac tumor, MRI, Von Hippel–Lindau syndrome, Medicine (General), R5-920
Abstract

Von Hippel–Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). A majority of individuals (60–80%) with VHL disease will develop CNS hemangioblastomas (HMG). Endolymphatic sac tumor (ELST) is an uncommon, locally aggressive tumor located in the medial and posterior petrosal bone region. Its diagnosis is based on clinical, radiological, and pathological correlation, and it can occur in the setting of VHL in up to 10–15% of individuals. We describe a 17-year-old male who presented with a chief complaint of hearing loss. Brain and spine Magnetic Resonance Imaging documented the presence of an expansive lesion in the left cerebellar hemisphere, compatible with HMG in association with a second cerebellopontine lesion compatible with ELST. The peculiarity of the reported case is due to the simultaneous presence of two typical characteristics of VHL, which led to performing comprehensive genetic testing, thus allowing for the diagnosis of VHL. Furthermore, ELST is rare before the fourth decade of life. Early detection of these tumors plays a key role in the optimal management of this condition.

Published
2021
Full Text
View/download PDF

7. Screening eye diseases in babies: an italian experience on 5000 healthy, consecutive newborns

Author

Roberto Perilli, Modesto Lanci, Antonino Romanzo, Laura Sabatini, and Paola Fusilli

Subjects
congenital eye diseases, congenital cataract, congenital glaucoma, red reflex test, newborn eye examination, Public aspects of medicine, RA1-1270
Abstract

INTRODUCTION: Visual performance of eyes with congenital pathologies is conditioned by an early diagnosis. Families having problems in accessing health services risk to delay or miss both an early diagnosis and an early treatment and amblyopia (lazy eye) prevention. METHODS: In our hospital, all full-term, healthy newborns are thoroughly examined by an ophthalmologist in the maternal ward, 1 to 3 days after birth. RESULTS: Among the first 5000 newborns examined, a high incidence of congenital pathologies compared to international literature was reported, with differences between Caucasians and non-Caucasians. CONCLUSION: Performing an early in-hospital thorough eye examination in all newborns as a screening would be an effective way to miss none and to start an early and effective pathway of disease treatment.

Published
2015
Full Text
View/download PDF

8. Proteomics of Aqueous Humor as a Source of Disease Biomarkers in Retinoblastoma

Author

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

Subjects
Proteomics, Proteome, Retinal Neoplasms, Organic Chemistry, General Medicine, Catalysis, retinoblastoma, Humans, Retinoblastoma/metabolism, Aqueous Humor/metabolism, Proteome/metabolism, Prospective Studies, Biomarkers/metabolism, Retinal Neoplasms/metabolism, aqueous humor, proteomic, tumor biomarker, Computer Science Applications, Inorganic Chemistry, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Physical and Theoretical Chemistry, Molecular Biology, Biomarkers, Spectroscopy
Abstract

Aqueous humor (AH) can be easily and safely used to evaluate disease-specific biomarkers in ocular disease. The aim of this study was to identify specific proteins biomarkers in the AH of retinoblastoma (RB) patients at various stages of the disease. We analyzed the proteome of 53 AH samples using high-resolution mass spectrometry. We grouped the samples according to active vitreous seeding (Group 1), active aqueous seeding (Group 2), naive RB (group 3), inactive RB (group 4), and congenital cataracts as the control (Group 5). We found a total of 889 proteins in all samples. Comparative parametric analyses among the different groups revealed three additional proteins expressed in the RB groups that were not expressed in the control group. These were histone H2B type 2-E (HISTH2B2E), InaD-like protein (PATJ), and ubiquitin conjugating enzyme E2 V1 (UBE2V1). Upon processing the data of our study with the OpenTarget Tool software, we found that glyceraldehyde 3-phosphate dehydrogenase (GAPDH) and CD44 were more highly expressed in the RB groups. Our results provide a proteome database regarding AH related to RB disease that may be used as a source of biomarkers. Further prospective studies should validate our finding in a large cohort of RB patients.

Published
2022

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

Author

Maria Cristina Artesani, Mariacristina Esposito, Marta Sacchetti, Maurizio Mennini, antonino romanzo, Luca Buzzonetti, Alessandro Fiocchi, and andrea sansone

Subjects
Pulmonary and Respiratory Medicine, Immunology, Immunology and Allergy
Abstract

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.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.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.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.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
Full Text
View/download PDF

10. Incidence of Retinoblastoma Has Increased: Results from 40 European Countries

Author

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

Published
2021
Full Text
View/download PDF

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

Author

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

Subjects
Pathology, medicine.medical_specialty, Medicine (General), Tumor suppressor gene, Hearing loss, Clinical Biochemistry, Case Report, endolymphatic sac tumor, urologic and male genital diseases, hemangioblastomas, Lesion, Cancer syndrome, 03 medical and health sciences, 0302 clinical medicine, R5-920, Cerebellar hemisphere, Von Hippel–Lindau syndrome, medicine, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Cerebellopontine angle, medicine.disease, 030220 oncology & carcinogenesis, medicine.symptom, business, Endolymphatic sac tumor, 030217 neurology & neurosurgery, MRI
Abstract

Von Hippel–Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). A majority of individuals (60–80%) with VHL disease will develop CNS hemangioblastomas (HMG). Endolymphatic sac tumor (ELST) is an uncommon, locally aggressive tumor located in the medial and posterior petrosal bone region. Its diagnosis is based on clinical, radiological, and pathological correlation, and it can occur in the setting of VHL in up to 10–15% of individuals. We describe a 17-year-old male who presented with a chief complaint of hearing loss. Brain and spine Magnetic Resonance Imaging documented the presence of an expansive lesion in the left cerebellar hemisphere, compatible with HMG in association with a second cerebellopontine lesion compatible with ELST. The peculiarity of the reported case is due to the simultaneous presence of two typical characteristics of VHL, which led to performing comprehensive genetic testing, thus allowing for the diagnosis of VHL. Furthermore, ELST is rare before the fourth decade of life. Early detection of these tumors plays a key role in the optimal management of this condition.

Published
2021

13. Health-related quality of life in children at the diagnosis of Vernal Keratoconjunctivitis

Author

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

Subjects
Male, medicine.medical_specialty, Visual analogue scale, Immunology, Disease, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Patient age, Internal medicine, Surveys and Questionnaires, medicine, Immunology and Allergy, Humans, Clinical severity, 030212 general & internal medicine, quality-of-Life, Child, Conjunctivitis, Allergic, Health related quality of life, business.industry, allergy diagnosis, IgE, vernal keratoconjunctivitis, Significant difference, medicine.disease, Settore MED/38, humanities, eye diseases, 030228 respiratory system, Child, Preschool, Pediatrics, Perinatology and Child Health, Quality of Life, Female, business, Vernal keratoconjunctivitis, Vernal Keratoconjunctivitis
Abstract

Background Vernal keratoconjunctivitis (VKC) is a bilateral, chronic, allergic condition mostly affecting children. Clinical evaluations may not necessarily reflect the impact of the disease on the patients' health-related quality of life (HRQoL). We aimed to evaluate HRQoL in children at VKC diagnosis and to analyze correlations between HRQoL and clinical and laboratory variables. Methods We studied 5- to 12-year-old patients with VKC. Data on clinical history, instrumental eye evaluations, blood examinations, and visual analog scale (VAS) for the subjective symptoms were collected. HRQoL was assessed through a disease-specific validated Quality of Life in Children with Vernal Keratoconjunctivitis (QUICK) questionnaire. Results Seventy subjects were included in the analysis (female/male: 10/60; tarsal/mixed VKC form: 36/34). Clinical severity of VKC according to the Bonini scale was as follows: 14, mild; 36, moderate; and 20, severe. No significant difference was found concerning the distribution of patient age, gender, and history of allergic manifestations between tarsal and mixed VKC. A significant positive correlation was found between all QUICK scores and VAS scores, including different VAS subscale, while no significant correlation was found between QUICK scores and total sign scores, Schirmer's test, and corneal thickness. The presence of active severe VKC was not associated with worse HRQoL. Conclusions Our evidence shows that VKC patients experience impairment of HRQoL, especially in relation to the perception of symptoms independently of the ophthalmologic changes found, and that the QUICK questionnaire could be a useful tool to evaluate HRQoL in children with VKC, which may improve patients' classification and management.

Published
2021

14. Diencephalic Tumor: a rare coincidence in retinoblastoma survivors?

Author

Luca Buzzonetti, Paola Valente, Andrea Carai, Iside Alessi, Ida Russo, Maria Antonietta De Ioris, Antonino Romanzo, Giovanna Stefania Colafati, and Angela Mastronuzzi

Subjects
Oncology, Retrospective review, medicine.medical_specialty, Biological studies, Retinoblastoma, business.industry, medicine.medical_treatment, medicine.disease, Radiation therapy, Diencephalon, Germline mutation, Internal medicine, Diencephalic Tumor, medicine, Previously treated, business
Abstract

Retinoblastoma(RB) patients have a high risk to develop second malignant neoplasm (SMN). Diencephalic tumors(DT) are rare in paediatric age. A retrospective review was performed over 21 years period. Out of 169 RB patients, 3 presented a DT. Two patients presented a Rb1 germline mutation and none received radiotherapy. DT in previously treated RB patients seems a peculiar SMN. However, considering the site, the short time interval from RB and the absence of radiotherapy, an alternative pathogenic mechanism could be supposed. The same embryological origin of the retina and the diencephalon should be considered and biological studies are needed.

Published
2020
Full Text
View/download PDF

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

Author

Chiara Lavarello, Angela Galardi, Angela Di Giannatale, Virginia Di Paolo, Paolo Mascio, Héctor Peinado, Ida Russo, Andrea Petretto, Marta Colletti, Raffaele Cozza, Antonino Romanzo, Franco Locatelli, Rita De Vito, Angel M. Carcaboso, Luisa Pascucci, Paola Valente, Fondazione Umberto Veronesi (FUV)-2020 post-doctoral fellowships, and Fondazione Umberto Veronesi

Subjects
0301 basic medicine, Cancer Research, exosomes, Biology, Proteomics, lcsh:RC254-282, Article, retinoblastoma, Metastasis, Extracellular matrix, 03 medical and health sciences, 0302 clinical medicine, proteomics, Downregulation and upregulation, medicine, Anoikis, Retinoblastoma, Proteomic Profiling, biomarkers, exosomes, proteomics, retinoblastoma, biomarkers, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Microvesicles, 030104 developmental biology, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Oncology, 030220 oncology & carcinogenesis, Cancer research
Abstract

Retinoblastoma (RB) is the most common tumor of the eye in early childhood. Although recent advances in conservative treatment have greatly improved the visual outcome, local tumor control remains difficult in the presence of massive vitreous seeding. Traditional biopsy has long been considered unsafe in RB, due to the risk of extraocular spread. Thus, the identification of new biomarkers is crucial to design safer diagnostic and more effective therapeutic approaches. Exosomes, membrane-derived nanovesicles that are secreted abundantly by aggressive tumor cells and that can be isolated from several biological fluids, represent an interesting alternative for the detection of tumor-associated biomarkers. In this study, we defined the protein signature of exosomes released by RB tumors (RBT) and vitreous seeding (RBVS) primary cell lines by high resolution mass spectrometry. A total of 5666 proteins were identified. Among these, 5223 and 3637 were expressed in exosomes RBT and one RBVS group, respectively. Gene enrichment analysis of exclusively and differentially expressed proteins and network analysis identified in RBVS exosomes upregulated proteins specifically related to invasion and metastasis, such as proteins involved in extracellular matrix (ECM) remodeling and interaction, resistance to anoikis and the metabolism/catabolism of glucose and amino acids. M.C. and V.D.P. are recipients of Fondazione Umberto Veronesi (FUV)-2020 post-doctoral fellowships. We thank Valentina Polcini for proofreading the manuscript. Sí

Published
2020

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

Author

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

Published
2020
Full Text
View/download PDF

17. The impact of IGF-I, puberty and obesity on early retinopathy in children: a cross-sectional study

Author

Stefano Cianfarani, Sarah Bocchini, Antonino Romanzo, Giorgia Bottaro, Carla Bizzarri, Marco Cappa, and Stefania Pedicelli

Subjects
Male, Pediatric Obesity, medicine.medical_specialty, Waist, Adolescent, Blood Pressure, Overweight, Childhood obesity, Body Mass Index, Cohort Studies, 03 medical and health sciences, Child, IGF-I, Obesity, Puberty, Retinopathy, Cross-Sectional Studies, Female, Humans, Insulin-Like Growth Factor I, Retinal Diseases, Risk Factors, 0302 clinical medicine, 030225 pediatrics, Internal medicine, Medicine, 030212 general & internal medicine, Risk factor, business.industry, Research, lcsh:RJ1-570, Type 2 Diabetes Mellitus, lcsh:Pediatrics, medicine.disease, Settore MED/38, medicine.symptom, business, Body mass index
Abstract

Background Childhood obesity has been correlated with coronary heart disease, but the correlation with microvascular disease remains unclear. The retinal microcirculation is affected early in the process of atherosclerosis and it offers the opportunity to indirectly study the effects of obesity on small brain vessels. Insulin-like growth factor 1 (IGF-I) is involved in angiogenesis and it has a crucial role in retinal vascularization. Methods A single-centre cross-sectional study was performed in 268 children and adolescents (116 males; mean age 13.03 ± 1.9 years,) with overweight/obesity, in order to identify risk factors for early retinopathy. Results Nine patients (3.3%) showed signs of retinopathy, defined as arteriovenous crossings and/or papilledema. Body mass index and fat mass, analysed by Dual X-ray Absorptiometry, were not different in patients with or without retinopathy. Patients with retinopathy were pubertal and showed higher waist circumference (107.78 ± 15.83 versus 99.46 ± 10.85 cm; p: 0.027), waist circumference/height ratio (0.66 ± 0.07 versus 0.62 ± 0.05; p: 0.04) and IGF-I SDS (0.03 ± 1.3 versus − 0.66 ± 0.9; p: 0.04). Multivariate analysis (after correction for sex, age, family history of type 2 diabetes mellitus, obesity, cardiovascular disease, hypertension and dyslipidaemia) showed that waist circumference/height ratio and IGF-I SDS were the only variables independently correlated with the presence of retinopathy. Conclusions Retinal vascular changes may become evident as an early complication of overweight and obesity, even during childhood and adolescence. Relatively high levels of IGF-I during this phase may act as an additional risk factor for microvascular damage. The screening for retinopathy should be proposed to all children and adolescents with overweight/obesity.

Published
2019
Full Text
View/download PDF

18. Advanced unilateral retinoblastoma: a case of sparing enucleation treatment failure

Author

Luca Buzzonetti, Gianluigi Natali, Raffaele Cozza, Maria Antonietta De Ioris, Antonino Romanzo, and Paola Valente

Subjects
Melphalan, medicine.medical_specialty, Retinal Neoplasm, Retinoblastoma, business.industry, Enucleation, Eye Enucleation, General Medicine, medicine.disease, Treatment failure, Surgery, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, 030221 ophthalmology & optometry, Intra arterial, medicine, business, Unilateral Retinoblastoma, 030217 neurology & neurosurgery, medicine.drug
Published
2016
Full Text
View/download PDF

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

Author

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

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-nai¨ve patients with retinoblastoma residing in 40 European countries and 1024 treatment-nai¨ve 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, p<0.001), had fewer cases of familial retinoblastoma (95% CI 2.0 to 5.3, p<0.001) and presented with more advanced disease (95% CI 6.0 to 9.8, p<0.001); 43.4% and 15.4% of Africans had extraocular retinoblastoma and distant metastasis at the time of diagnosis, respectively, compared to 2.9% and 1.0% of the Europeans. To reach a retinoblastoma centre, European patients travelled 421.8 km compared to Africans who travelled 185.7 km (p<0.001). On regression analysis, lower-national income level, African residence and older age (p<0.001), but not travel distance (p=0.19), were risk factors for advanced disease.ConclusionsFewer 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
2021
Full Text
View/download PDF

20. Global Retinoblastoma Presentation and Analysis by National Income Level

Author

Fabian, Ido Didi, Abdallah, Elhassan, Abdullahi, Shehu U., Abdulqader, Rula A., Adamou Boubacar, Sahadatou, Ademola-Popoola, Dupe S., Adio, Adedayo, Afshar, Armin R., Aggarwal, Priyanka, Aghaji, Ada E., Ahmad, Alia, Akib, Marliyanti N. R., Al Harby, Lamis, Al Ani, Mouroge H., Alakbarova, Aygun, Portabella, Silvia Alarcón, Al-Badri, Safaa A. F., Alcasabas, Ana Patricia A., Al-Dahmash, Saad A., Alejos, Amanda, Alemany-Rubio, Ernesto, Alfa Bio, Amadou I., Alfonso Carreras, Yvania, Al-Haddad, Christiane, Al-Hussaini, Hamoud H. Y., Ali, Amany M., Alia, Donjeta B., Al-Jadiry, Mazin F., Al-Jumaly, Usama, Alkatan, Hind M., All-Eriksson, Charlotta, Al-Mafrachi, Ali A. R. M., Almeida, Argentino A., Alsawidi, Khalifa M., Al-Shaheen, Athar A. S. M., Al-Shammary, Entissar H., Amiruddin, Primawita O., Antonino, Romanzo, Astbury, Nicholas J., Atalay, Hatice T., Atchaneeyasakul, La-ongsri, Atsiaya, Rose, Attaseth, Taweevat, Aung, Than H., Ayala, Silvia, Baizakova, Baglan, Balaguer, Julia, Balayeva, Ruhengiz, Balwierz, Walentyna, Barranco, Honorio, Bascaran, Covadonga, Beck Popovic, Maja, Benavides, Raquel, Benmiloud, Sarra, Bennani Guebessi, Nissrine, Berete, Rokia C., Berry, Jesse L., Bhaduri, Anirban, Bhat, Sunil, Biddulph, Shelley J., Biewald, Eva M., Bobrova, Nadia, Boehme, Marianna, Boldt, H.C., Bonanomi, Maria Teresa B. C., Bornfeld, Norbert, Bouda, Gabrielle C., Bouguila, Hédi, Boumedane, Amaria, Brennan, Rachel C., Brichard, Bénédicte G., Buaboonnam, Jassada, Calderón-Sotelo, Patricia, Calle Jara, Doris A., Camuglia, Jayne E., Cano, Miriam R., Capra, Michael, Cassoux, Nathalie, Castela, Guilherme, Castillo, Luis, Català-Mora, Jaume, Chantada, Guillermo L., Chaudhry, Shabana, Chaugule, Sonal S., Chauhan, Argudit, Chawla, Bhavna, Chernodrinska, Violeta S., Chiwanga, Faraja S., Chuluunbat, Tsengelmaa, Cieslik, Krzysztof, Cockcroft, Ruellyn L., Comsa, Codruta, Correa, Zelia M., Correa Llano, Maria G., Corson, Timothy W., Cowan-Lyn, Kristin E., Csóka, Monika, Cui, Xuehao, Da Gama, Isac V., Dangboon, Wantanee, Das, Anirban, Das, Sima, Davanzo, Jacquelyn M., Davidson, Alan, De Potter, Patrick, Delgado, Karina Q., Demirci, Hakan, Desjardins, Laurence, Diaz Coronado, Rosdali Y., Dimaras, Helen, Dodgshun, Andrew J., Donaldson, Craig, Donato Macedo, Carla R., Dragomir, Monica D., Du, Yi, Du Bruyn, Magritha, Edison, Kemala S., Eka Sutyawan, I. Wayan, El Kettani, Asmaa, Elbahi, Amal M., Elder, James E., Elgalaly, Dina, Elhaddad, Alaa M., Elhassan, Moawia M. Ali, Elzembely, Mahmoud M., Essuman, Vera A., Evina, Ted Grimbert A., Fadoo, Zehra, Fandiño, Adriana C., Faranoush, Mohammad, Fasina, Oluyemi, Fernández, Delia D. P. G., Fernández-Teijeiro, Ana, Foster, Allen, Frenkel, Shahar, Fu, Ligia D., Fuentes-Alabi, Soad L., Gallie, Brenda L., Gandiwa, Moira, Garcia, Juan L., García Aldana, David, Gassant, Pascale Y., Geel, Jennifer A., Ghassemi, Fariba, Girón, Ana V., Gizachew, Zelalem, Goenz, Marco A., Gold, Aaron S., Goldberg-Lavid, Maya, Gole, Glen A., Gomel, Nir, Gonzalez, Efren, Gonzalez Perez, Graciela, González-Rodríguez, Liudmira, Garcia Pacheco, Henry N., Graells, Jaime, Green, Liz, Gregersen, Pernille A., Grigorovski, Nathalia D. A. K., Guedenon, Koffi M., Gunasekera, D. Sanjeeva, Gündüz, Ahmet K., Gupta, Himika, Gupta, Sanjiv, Hadjistilianou, Theodora, Hamel, Patrick, Hamid, Syed A., Hamzah, Norhafizah, Hansen, Eric D., Harbour, J. William, Hartnett, M. Elizabeth, Hasanreisoglu, Murat, Hassan, Sadiq, Hassan, Shadab, Hederova, Stanislava, Hernandez, Jose, Hernandez, Lorelay Marie Carcamo, Hessissen, Laila, Hordofa, Diriba F., Huang, Laura C., Hubbard, G. B., Hummlen, Marlies, Husakova, Kristina, Hussein Al-Janabi, Allawi N., Ida, Russo, Ilic, Vesna R., Jairaj, Vivekaraj, Jeeva, Irfan, Jenkinson, Helen, Ji, Xunda, Jo, Dong Hyun, Johnson, Kenneth P., Johnson, William J., Jones, Michael M., Kabesha, Theophile B. Amani, Kabore, Rolande L., Kaliki, Swathi, Kalinaki, Abubakar, Kantar, Mehmet, Kao, Ling-Yuh, Kardava, Tamar, Kebudi, Rejin, Kepak, Tomas, Keren-Froim, Naama, Khan, Zohora J., Khaqan, Hussain A., Khauv, Phara, Kheir, Wajiha J., Khetan, Vikas, Khodabande, Alireza, Khotenashvili, Zaza, Kim, Jonathan W., Kim, Jeong Hun, Kiratli, Hayyam, Kivelä, Tero T., Klett, Artur, Komba Palet, Jess Elio Kosh, Krivaitiene, Dalia, Kruger, Mariana, Kulvichit, Kittisak, Kuntorini, Mayasari W., Kyara, Alice, Lachmann, Eva S., Lam, Carol P. S., Lam, Geoffrey C., Larson, Scott A., Latinovic, Slobodanka, Laurenti, Kelly D., Le, Bao Han A., Lecuona, Karin, Leverant, Amy A., Li, Cairui, Limbu, Ben, Long, Quah Boon, López, Juan P., Lukamba, Robert M., Lumbroso, Livia, Luna-Fineman, Sandra, Lutfi, Delfitri, Lysytsia, Lesia, Magrath, George N., Mahajan, Amita, Majeed, Abdul Rahim, Maka, Erika, Makan, Mayuri, Makimbetov, Emil K., Manda, Chatonda, Martín Begue, Nieves, Mason, Lauren, Mason, John O., Matende, Ibrahim O., Materin, Miguel, Mattosinho, Clarissa C. D. S., Matua, Marchelo, Mayet, Ismail, Mbumba, Freddy B., McKenzie, John D., Medina-Sanson, Aurora, Mehrvar, Azim, Mengesha, Aemero A., Menon, Vikas, Mercado, Gary John V. D., Mets, Marilyn B., Midena, Edoardo, Mishra, Divyansh K. C., Mndeme, Furahini G., Mohamedani, Ahmed A., Mohammad, Mona T., Moll, Annette C., Montero, Margarita M., Morales, Rosa A., Moreira, Claude, Mruthyunjaya, Prithvi, Msina, Mchikirwa S., Msukwa, Gerald, Mudaliar, Sangeeta S., Muma, Kangwa I., Munier, Francis L., Murgoi, Gabriela, Murray, Timothy G., Musa, Kareem O., Mushtaq, Asma, Mustak, Hamzah, Muyen, Okwen M., Naidu, Gita, Nair, Akshay Gopinathan, Naumenko, Larisa, Ndoye Roth, Paule Aïda, Nency, Yetty M., Neroev, Vladimir, Ngo, Hang, Nieves, Rosa M., Nikitovic, Marina, Nkanga, Elizabeth D., Nkumbe, Henry, Nuruddin, Murtuza, Nyaywa, Mutale, Obono-Obiang, Ghislaine, Oguego, Ngozi C., Olechowski, Andrzej, Oliver, Scott C. N., Osei-Bonsu, Peter, Ossandon, Diego, Paez-Escamilla, Manuel A., Pagarra, Halimah, Painter, Sally L, Paintsil, Vivian, Paiva, Luisa, Pal, Bikramjit P., Palanivelu, Mahesh Shanmugam, Papyan, Ruzanna, Parrozzani, Raffaele, Parulekar, Manoj, Pascual Morales, Claudia R., Paton, Katherine E., Pawinska-Wasikowska, Katarzyna, Pe'er, Jacob, Peña, Armando, Peric, Sanja, Pham, Chau T. M., Philbert, Remezo, Plager, David A., Pochop, Pavel, Polania, Rodrigo A., Polyakov, Vladimir G., Pompe, Manca T., Pons, Jonathan J., Prat, Daphna, Prom, Vireak, Purwanto, Ignatius, Qadir, Ali O., Qayyum, Seema, Qian, Jiang, Rahman, Ardizal, Rahman, Salman, Rahmat, Jamalia, Rajkarnikar, Purnima, Ramanjulu, Rajesh, Ramasubramanian, Aparna, Ramirez-Ortiz, Marco A., Raobela, Léa, Rashid, Riffat, Reddy, M. Ashwin, Reich, Ehud, Renner, Lorna A., Reynders, David, Ribadu, Dahiru, Riheia, Mussagy M., Ritter-Sovinz, Petra, Rojanaporn, Duangnate, Romero, Livia, Roy, Soma R., Saab, Raya H., Saakyan, Svetlana, Sabhan, Ahmed H, Sagoo, Mandeep S., Said, Azza M. A., Saiju, Rohit, Salas, Beatriz, San Román Pacheco, Sonsoles, Sánchez, Gissela L., Sayalith, Phayvanh, Scanlan, Trish A., Schefler, Amy C., Schoeman, Judy, Sedaghat, Ahad, Seregard, Stefan, Seth, Rachna, Shah, Ankoor S., Shakoor, Shawkat A., Sharma, Manoj K., Sherief, Sadik T., Shetye, Nandan G., Shields, Carol L., Siddiqui, Sorath Noorani, Sidi Cheikh, Sidi, Silva, Sónia, Singh, Arun D., Singh, Niharika, Singh, Usha, Singha, Penny, Sitorus, Rita S., Skalet, Alison H., Soebagjo, Hendrian D., Sorochynska, Tetyana, Ssali, Grace, Stacey, Andrew W., Staffieri, Sandra E., Stahl, Erin D., Stathopoulos, Christina, Stirn Kranjc, Branka, Stones, David K., Strahlendorf, Caron, Suarez, Maria Estela Coleoni, Sultana, Sadia, Sun, Xiantao, Sundy, Meryl, Superstein, Rosanne, Supriyadi, Eddy, Surukrattanaskul, Supawan, Suzuki, Shigenobu, Svojgr, Karel, Sylla, Fatoumata, Tamamyan, Gevorg, Tan, Deborah, Tandili, Alketa, Tarrillo Leiva, Fanny F., Tashvighi, Maryam, Tateshi, Bekim, Tehuteru, Edi S., Teixeira, Luiz F., Teh, Kok Hoi, Theophile, Tuyisabe, Toledano, Helen, Trang, Doan L., Traoré, Fousseyni, Trichaiyaporn, Sumalin, Tuncer, Samuray, Tyau-Tyau, Harba, Umar, Ali B., Unal, Emel, Uner, Ogul E., Urbak, Steen F., Ushakova, Tatiana L., Usmanov, Rustam H., Valeina, Sandra, van Hoefen Wijsard, Milo, Varadisai, Adisai, Vasquez, Liliana, Vaughan, Leon O., Veleva-Krasteva, Nevyana V., Verma, Nishant, Victor, Andi A., Viksnins, Maris, Villacís Chafla, Edwin G., Vishnevskia-Dai, Vicktoria, Vora, Tushar, Wachtel, Antonio E., Wackernagel, Werner, Waddell, Keith, Wade, Patricia D., Wali, Amina H., Wang, Yi-Zhuo, Weiss, Avery, Wilson, Matthew W., Wime, Amelia D. C., Wiwatwongwana, Atchareeya, Wiwatwongwana, Damrong, Wolley Dod, Charlotte, Wongwai, Phanthipha, Xiang, Daoman, Xiao, Yishuang, Yam, Jason C., Yang, Huasheng, Yanga, Jenny M., Yaqub, Muhammad A, Yarovaya, Vera A., Yarovoy, Andrey A., Ye, Huijing, Yousef, Yacoub A., Yuliawati, Putu, Zapata López, Arturo M., Zein, Ekhtelbenina, Zhang, Chengyue, Zhang, Yi, Zhao, Junyang, Zheng, Xiaoyu, Zhilyaeva, Katsiaryna, Zia, Nida, Ziko, Othman A. O., Zondervan, Marcia, and Bowman, Richard

Abstract

IMPORTANCE: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child’s life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. OBJECTIVES: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. DESIGN, SETTING, AND PARTICIPANTS: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. MAIN OUTCOMES AND MEASURES: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. RESULTS: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle–income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle–income countries vs upper-middle–income countries and HICs, 5.74 [95% CI, 4.30-7.68]). CONCLUSIONS AND RELEVANCE: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs.

Published
2020
Full Text
View/download PDF

21. Sporadic Retinoblastoma and Pilocytic Astrocytoma: A Rare Association of Two Tumors

Author

Raffaele Cozza, Adriano Angioni, Angela Mastronuzzi, Andrea Carai, Francesco Randisi, Carlo Efisio Marras, Paola Valente, Maria Antonietta De Ioris, and Antonino Romanzo

Subjects
Pathology, medicine.medical_specialty, Oncology, Pilocytic astrocytoma, Sporadic Retinoblastoma, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Hematology, business, medicine.disease
Published
2015
Full Text
View/download PDF

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

Author

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

Subjects
Pathology, medicine.medical_specialty, genetic structures, Case Report, Nervous System Malformations, Diagnosis, Differential, Glioma, Cerebellum, Biopsy, medicine, Orbital Diseases, Humans, Anophthalmia, Spontaneous regression, medicine.diagnostic_test, business.industry, Cysts, Invagination, Anophthalmos, Brain, Infant, Magnetic resonance imaging, General Medicine, Optic vesicle, medicine.disease, Cerebellar lesion, Magnetic Resonance Imaging, eye diseases, Ophthalmology, Brain lesion, Brain lesions, Female, business, Congenital cystic eye
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 wait-and-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.

Full Text
View/download PDF

23. Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

Author

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

Subjects
Male, Next-Generation Sequencing, Cancer Research, Retinoblastoma Protein, DNA sequencing, symbols.namesake, RB1 custom aCGH, Genetics, Humans, Medicine, Multiplex, Multiplex ligation-dependent probe amplification, Pathology, Molecular, Alleles, Chromosome Aberrations, Sanger sequencing, Comparative Genomic Hybridization, biology, business.industry, Retinoblastoma, Retinoblastoma protein, High-Throughput Nucleotide Sequencing, Chromosome, Exons, medicine.disease, eye diseases, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Oncology, Mutation, biology.protein, symbols, Female, business, Gene Deletion, Research Article, Comparative genomic hybridization
Abstract

Background Retinoblastoma (RB) is the most common malignant childhood tumor of the eye and results from inactivation of both alleles of the RB1 gene. Nowadays RB genetic diagnosis requires classical chromosome investigations, Multiplex Ligation-dependent Probe Amplification analysis (MLPA) and Sanger sequencing. Nevertheless, these techniques show some limitations. We report our experience on a cohort of RB patients using a combined approach of Next-Generation Sequencing (NGS) and RB1 custom array-Comparative Genomic Hybridization (aCGH). Methods A total of 65 patients with retinoblastoma were studied: 29 cases of bilateral RB and 36 cases of unilateral RB. All patients were previously tested with conventional cytogenetics and MLPA techniques. Fifty-three samples were then analysed using NGS. Eleven cases were analysed by RB1 custom aCGH. One last case was studied only by classic cytogenetics. Finally, it has been tested, in a lab sensitivity assay, the capability of NGS to detect artificial mosaicism series in previously recognized samples prepared at 3 different mosaicism frequencies: 10, 5, 1 %. Results Of the 29 cases of bilateral RB, 28 resulted positive (96.5 %) to the genetic investigation: 22 point mutations and 6 genomic rearrangements (four intragenic and two macrodeletion). A novel germline intragenic duplication, from exon18 to exon 23, was identified in a proband with bilateral RB. Of the 36 available cases of unilateral RB, 8 patients resulted positive (22 %) to the genetic investigation: 3 patients showed point mutations while 5 carried large deletion. Finally, we successfully validated, in a lab sensitivity assay, the capability of NGS to accurately measure level of artificial mosaicism down to 1 %. Conclusions NGS and RB1-custom aCGH have demonstrated to be an effective combined approach in order to optimize the overall diagnostic procedures of RB. Custom aCGH is able to accurately detect genomic rearrangements allowing the characterization of their extension. NGS is extremely accurate in detecting single nucleotide variants, relatively simple to perform, cost savings and efficient and has confirmed a high sensitivity and accuracy in identifying low levels of artificial mosaicisms.

Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results