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9 results on '"Pioppo, Antonino"'

1. RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily

Author

D’Esposito, Fabiana, primary, Randazzo, Viviana, additional, Vega, Maria Igea, additional, Esposito, Gabriella, additional, Maltese, Paolo Enrico, additional, Torregrossa, Salvatore, additional, Scibetta, Paola, additional, Listì, Florinda, additional, Gagliano, Caterina, additional, Scalia, Lucia, additional, Pioppo, Antonino, additional, Marino, Antonio, additional, Piergentili, Marco, additional, Malvone, Emanuele, additional, Fioretti, Tiziana, additional, Vitrano, Angela, additional, Piccione, Maria, additional, Avitabile, Teresio, additional, Salvatore, Francesco, additional, Bertelli, Matteo, additional, Costagliola, Ciro, additional, Cordeiro, Maria Francesca, additional, Maggio, Aurelio, additional, and D’Alcamo, Elena, additional

Published
2024
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3. RP1 Dominant p.Ser740* Pathogenic Variant In 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Founder Effect in Western Sicily

Author

D’Esposito, Fabiana, primary, Randazzo, Viviana, additional, Vega, Maria Igea, additional, Gagliano, Caterina, additional, Esposito, Gabriella, additional, Maltese, Paolo Enrico, additional, Torregrossa, Salvatore, additional, Scibetta, Paola, additional, Listì, Florinda, additional, Scalia, Lucia, additional, Pioppo, Antonino, additional, Marino, Antonio, additional, Piergentili, Marco, additional, Malvone, Emanuele, additional, Fioretti, Tiziana, additional, Vitrano, Angela, additional, Piccione, Maria, additional, Avitabile, Teresio, additional, Salvatore, Francesco, additional, Bertelli, Matteo, additional, Costagliola, Ciro, additional, Cordeiro, Maria Francesca, additional, Maggio, Aurelio, additional, and D'Alcamo, Elena, additional

Published
2023
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4. RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily.

Author

D'Esposito, Fabiana, Randazzo, Viviana, Vega, Maria Igea, Esposito, Gabriella, Maltese, Paolo Enrico, Torregrossa, Salvatore, Scibetta, Paola, Listì, Florinda, Gagliano, Caterina, Scalia, Lucia, Pioppo, Antonino, Marino, Antonio, Piergentili, Marco, Malvone, Emanuele, Fioretti, Tiziana, Vitrano, Angela, Piccione, Maria, Avitabile, Teresio, Salvatore, Francesco, and Bertelli, Matteo

Subjects
DYSTROPHY, GENOME editing, RETINITIS pigmentosa, VISUAL fields, VISUAL acuity
Abstract

Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod–cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs. Among the over 30 genes found to date related to ADRP, RP1 pathogenic variants have been identified in 5–10% of cases. In a cohort of RCD patients from the Palermo province on the island of Sicily, we identified a prevalent nonsense variant in RP1, which was associated with ADRP. The objective of our study was to analyse the clinical and molecular data of this patient cohort and to evaluate the potential presence of a founder effect. Materials and Methods. From 2005 to January 2023, 84 probands originating from Western Sicily (Italy) with a diagnosis of RCD or RP and their relatives underwent deep phenotyping, which was performed in various Italian clinical institutions. Molecular characterisation of patients and familial segregation of pathogenic variants were carried out in different laboratories using Sanger and/or next-generation sequencing (NGS). Results. Among 84 probands with RCD/RP, we found 28 heterozygotes for the RP1 variant c.2219C>G, p.Ser740* ((NM_006269.2)*, which was therefore significantly prevalent in this patient cohort. After a careful interview process, we ascertained that some of these patients shared the same pedigree. Therefore, we were ultimately able to define 20 independent family groups with no traceable consanguinity. Lastly, analysis of clinical data showed, in our patients, that the p.Ser740* nonsense variant was often associated with a late-onset and relatively mild phenotype. Conclusions. The high prevalence of the p.Ser740* variant in ADRP patients from Western Sicily suggests the presence of a founder effect, which has useful implications for the molecular diagnosis of RCD in patients coming from this Italian region. This variant can be primarily searched for in RP-affected subjects displaying compatible modes of transmission and phenotypes, with an advantage in terms of the required costs and time for analysis. Moreover, given its high prevalence, the RP1 p.Ser740* variant could represent a potential candidate for the development of therapeutic strategies based on gene editing or translational read-through therapy for suppression of nonsense variants. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome

Author

D’Esposito, Fabiana, primary, Randazzo, Viviana, additional, Cennamo, Gilda, additional, Centore, Nicola, additional, Maltese, Paolo Enrico, additional, Malesci, Rita, additional, D’Andrea, Luca, additional, Bertelli, Matteo, additional, Marciano, Elio, additional, de Crecchio, Giuseppe, additional, Pioppo, Antonino, additional, Magli, Adriano, additional, and Cordeiro, Maria Francesca, additional

Published
2019
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8. Novel USH1Ghomozygous variant underlying USH2-like phenotype of Usher syndrome

Author

D’Esposito, Fabiana, Randazzo, Viviana, Cennamo, Gilda, Centore, Nicola, Maltese, Paolo Enrico, Malesci, Rita, D’Andrea, Luca, Bertelli, Matteo, Marciano, Elio, de Crecchio, Giuseppe, Pioppo, Antonino, Magli, Adriano, and Cordeiro, Maria Francesca

Abstract

Purpose: Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with the USH1Ggene being an uncommon cause of USH. We describe an atypical USH1G-related phenotype caused by a novel homozygous missense variation in a patient with profound hearing impairment and relatively mild retinitis pigmentosa, but no vestibular dysfunction.Methods: A 26-year-old female patient with profound congenital sensorineural hearing loss, nyctalopia and retinitis pigmentosa was studied. Audiometric, vestibular and ophthalmologic examination was performed. A panel of 13 genes was tested by next-generation sequencing (NGS).Results: While the hearing loss was confirmed to be profound, the vestibular function resulted normal. Although typical retinitis pigmentosa was present, the age at onset was unusually late for USH1 syndrome. A novel homozygous missense variation (c.1187T>A, p.Leu396Gln) in the USH1Ggene has been identified as causing the disease in our patient.Conclusions: Genetic and phenotypic heterogeneity are very common in both isolated and syndromic retinal dystrophies and sensorineural hearing loss. Our findings widen the spectrum of USH allelic disorders and strength the concept that variants in genes that are classically known as underlying one specific clinical USH subtype might result in unexpected phenotypes.

Published
2021
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9. One week of levofloxacin plus dexamethasone eye drops for cataract surgery: an innovative and rational therapeutic strategy

Author

Bandello, Francesco, Coassin, Marco, Di Zazzo, Antonio, Rizzo, Stanislao, Biagini, Ilaria, Pozdeyeva, Nadezhda, Sinitsyn, Maksim, Verzin, Alexander, De Rosa, Pasquale, Calabrò, Francesco, Avitabile, Teresio, Bonfiglio, Vincenza, Fasce, Francesco, Barraquer, Rafael, Mateu, Josè Lamarca, Kohnen, Thomas, Carnovali, Marino, Malyugin, Boris, Pasquale, Aragona, Paolo, Arvedi, Carlo, Cagini, Luigi, Caretti, Gian Maria Cavallini, Salvatore, Cillino, Innocente, Figini, Livio Marco Franco, Alberto La Mantia, Antonio, Laborante, Paolo, Lanzetta, Mattia, Marcigaglia, Cesare, Mariotti, Enrico, Martini, Leonardo, Mastropasqua, Simonetta, Morselli, Franco, Passani, Alfredo, Pece, Grazia, Pertile, Antonino, Pioppo, Cesare, Pirondini, Marcello, Prantera, Antonio, Rapisarda, Romano, Mario R., Giuseppe, Scarpa, Domenico, Schiano-Lomoriello, Vincenzo, Scorcia, Gianluca, Scuderi, Francesco, Semeraro, Franco, Spedale, Giovanni, Staurenghi, Tognetto, Daniele, Marco, Tosi, Giuseppe, Trabucchi, Fausto, Trivella, Edoardo, Villani, Andrea, Vento, Paolo, Vinciguerra, Alió, Jorge L., Alfonso Sanchez, Josè F., Francisco Arnalich Montiel, Katrin, Lorenz, Irina, Panova, Alena, Eremina, Giorgio, Ciprandi, Bandello F., Coassin M., Di Zazzo A., Rizzo S., Biagini I., Pozdeyeva N., Sinitsyn M., Verzin A., De Rosa P., Calabro F., Avitabile T., Bonfiglio V., Fasce F., Barraquer R., Mateu J.L., Kohnen T., Carnovali M., Malyugin B., Aragona P., Arvedi P., Cagini C., Caretti L., Cavallini G.M., Cillino S., Figini I., Franco L.M., La Mantia A., Laborante A., Lanzetta P., Marcigaglia M., Mariotti C., Martini E., Mastropasqua L., Morselli S., Passani F., Pece A., Pertile G., Pioppo A., Pirondini C., Prantera M., Rapisarda A., Romano M.R., Scarpa G., Schiano-Lomoriello D., Scorcia V., Scuderi G., Semeraro F., Spedale F., Staurenghi G., Tognetto D., Tosi M., Trabucchi G., Trivella F., Villani E., Vento A., Vinciguerra P., Alio J.L., Alfonso Sanchez J.F., Montiel F.A., Lorenz K., Panova I., Eremina A., Ciprandi G., Francesco, Bandello, Marco, Coassin, Antonio, Di Zazzo, Stanislao, Rizzo, Ilaria, Biagini, Nadezhda, Pozdeyeva, Maksim, Sinitsyn, Alexander, Verzin, Pasquale, De Rosa, Francesco, Calabrò, Teresio, Avitabile, Vincenza, Bonfiglio, Francesco, Fasce, Rafael, Barraquer, Josè Lamarca, Mateu, Thomas, Kohnen, Marino, Carnovali, Boris, Malyugin, Aragona, Pasquale, Arvedi, Paolo, Cagini, Carlo, Caretti, Luigi, Maria Cavallini, Gian, Cillino, Salvatore, Figini, Innocente, Marco Franco, Livio, La Mantia, Alberto, Laborante, Antonio, Lanzetta, Paolo, Marcigaglia, Mattia, Mariotti, Cesare, Martini, Enrico, Mastropasqua, Leonardo, Morselli, Simonetta, Passani, Franco, Pece, Alfredo, Pertile, Grazia, Pioppo, Antonino, Pirondini, Cesare, Prantera, Marcello, Rapisarda, Antonio, Romano, Mario R., Scarpa, Giuseppe, Schiano-Lomoriello, Domenico, Scorcia, Vincenzo, Scuderi, Gianluca, Semeraro, Francesco, Spedale, Franco, Staurenghi, Giovanni, Tognetto, Daniele, Tosi, Marco, Trabucchi, Giuseppe, Trivella, Fausto, Villani, Edoardo, Vento, Andrea, Vinciguerra, Paolo, Alió, Jorge L., Alfonso Sanchez, Josè F., Arnalich Montiel, Francisco, Lorenz, Katrin, Panova, Irina, Eremina, Alena, Ciprandi, Giorgio, Bandello, F., Coassin, M., Di Zazzo, A., Rizzo, S., Biagini, I., Pozdeyeva, N., Sinitsyn, M., Verzin, A., De Rosa, P., Calabro, F., Avitabile, T., Bonfiglio, V., Fasce, F., Barraquer, R., Mateu, J. L., Kohnen, T., Carnovali, M., Malyugin, B., Aragona, P., Arvedi, P., Cagini, C., Caretti, L., Cavallini, G. M., Cillino, S., Figini, I., Franco, L. M., La Mantia, A., Laborante, A., Lanzetta, P., Marcigaglia, M., Mariotti, C., Martini, E., Mastropasqua, L., Morselli, S., Passani, F., Pece, A., Pertile, G., Pioppo, A., Pirondini, C., Prantera, M., Rapisarda, A., Romano, M. R., Scarpa, G., Schiano-Lomoriello, D., Scorcia, V., Scuderi, G., Semeraro, F., Spedale, F., Staurenghi, G., Tognetto, D., Tosi, M., Trabucchi, G., Trivella, F., Villani, E., Vento, A., Vinciguerra, P., Alio, J. L., Alfonso Sanchez, J. F., Montiel, F. A., Lorenz, K., Panova, I., Eremina, A., and Ciprandi, G.

Subjects
medicine.medical_specialty, medicine.medical_treatment, Levofloxacin, Article, Dexamethasone, Cataract, 03 medical and health sciences, 0302 clinical medicine, Endophthalmitis, Pharmacotherapy, Postoperative Complications, Internal medicine, medicine, Tobramycin, Clinical endpoint, Humans, Endophthalmitis, Cataract, Intracameral cefuroxime, Adverse effect, business.industry, Cataract surgery, Intracameral cefuroxime, medicine.disease, not applicable, Anti-Bacterial Agents, Ophthalmology, Italy, Spain, 030221 ophthalmology & optometry, Ophthalmic Solutions, business, 030217 neurology & neurosurgery, medicine.drug
Abstract

Background: Cataract surgery is the most common operation performed worldwide. A fixed topical corticosteroid-antibiotic combination is usually prescribed in clinical practice for 2 or more weeks to treat post surgical inflammation and prevent infection. However, this protracted schedule may increase the incidence of corticosteroid-related adverse events and notably promote antibiotic resistance. Methods: This International, multicentre, randomized, blinded-assessor, parallel-group clinical study evaluated the non-inferiority of 1-week levofloxacin/dexamethasone eye drops, followed by 1-week dexamethasone alone, vs. 2-week gold-standard tobramycin/dexamethasone (one drop QID for all schedules) to prevent and treat ocular inflammation and prevent infection after uncomplicated cataract surgery. Non-inferiority was defined as the lower limit of the 95% confidence interval (CI) around a treatment difference >–10%. The study randomized 808 patients enrolled in 53 centres (Italy, Germany, Spain and Russia). The primary endpoint was the proportion of patients without anterior chamber inflammation on day 15 defined as the end of treatment. Endophthalmitis was the key secondary endpoint. This study is registered with EudraCT code: 2018-000286-36. Results: After the end of treatment, 95.2% of the patients in the test arm vs. 94.9% of the control arm had no signs of inflammation in the anterior chamber (difference between proportions of patients = 0.028; 95% CI: −0.0275/0.0331). No case of endophthalmitis was reported. No statistically significant difference was evident in any of the other secondary endpoints. Both treatments were well tolerated. Conclusions: Non-inferiority of the new short pharmacological strategy was proven. One week of levofloxacin/dexamethasone prevents infection, ensures complete control of inflammation in almost all patients and may contain antibiotic resistance.

Published
2020

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