19 results on '"De Nadai K"'
Search Results
2. Inflammatory mediators and angiogenic factors in choroidal neovascularization: pathogenetic interactions and therapeutic implications. Mediators Inflamm
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Campa, C, Costagliola, Ciro, Incorvaia, C, Sheridan, C, Semeraro, F, DE NADAI, K, Sebastiani, A, Parmeggiani, F., Campa, C, Costagliola, Ciro, Incorvaia, C, Sheridan, C, Semeraro, F, DE NADAI, K, Sebastiani, A, and Parmeggiani, F.
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- 2010
3. Gestione clinica della retinite pigmentosa: up-to.date
- Author
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Parmeggiani, F, Chizzolini, M, De Nadai, K, Costagliola, C, Semeraro, Francesco, and Sebastiani, A.
- Published
- 2010
4. Perspectives of Choroidal Neovascularization Therapy
- Author
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Caputo, M., primary, Zirpoli, H., additional, Di Benedetto, R., additional, De Nadai, K., additional, and F. Tecce, M., additional
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- 2011
- Full Text
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5. Effect of COVID-19-related lockdown on ophthalmic practice in Italy: A report from 39 institutional centers
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Roberto dell’Omo, Mariaelena Filippelli, Gianni Virgili, Francesco Bandello, Giuseppe Querques, Paolo Lanzetta, Teresio Avitabile, Francesco Viola, Michele Reibaldi, Francesco Semeraro, Luciano Quaranta, Stanislao Rizzo, Edoardo Midena, Giuseppe Campagna, Ciro Costagliola, Paola Marolo, Carlo Enrico Traverso, Michele Iester, Carlo Alberto Cutolo, Claudio Azzolini, Simone Donati, Elias Premi, Paolo Nucci, Stela Vujosevic, Giovanni Staurenghi, Ferdinando Bottoni, Francesco Romano, Domenico Grosso, Enrico Borrelli, Riccardo Sacconi, Paolo Milella, Simone Ganci, Mario R. Romano, Gabriella Ricciardelli, Davide Allegrini, Marco Casaluci, Davide Romano, Giorgio Marchini, Francesca Chemello, Camilla Amantea, Rino Frisina, Elisabetta Pilotto, Raffaele Parrozzani, Daniele Veritti, Valentina Sarao, Tognetto Daniele, Massimo Busin, Francesco Parmeggiani, Katia De Nadai, Luca Furiosi, Rodolfo Mastropasqua, Bruno Battaglia, Matteo Gironi, Stefano Gandolfi, Enrico Luciani, Paolo Mora, Costantino Schiavi, Patrizia Bertaccini, Alessandro Finzi, Matilde Roda, Carlo Cagini, Marco Lupidi, Fabrizio Giansanti, Daniela Bacherini, Gianmarco Tosi, Elena De Benedetto, Marco Nardi, Michele Figus, Chiara Posarelli, Cesare Mariotti, Vittorio Pirani, Michele Nicolai, Stefano Bonini, Marco Coassin, Antonio Di Zazzo, Mariacristina Savastano, Alfonso Savastano, Gloria Gambini, Umberto De Vico, Leopoldo Spadea, Andrea Iannaccone, Carlo Nucci, Federico Ricci, Francesco Aiello, Gabriele Gallo Afflitto, Leonardo Mastropasqua, Giada D’Onofio, Federica Evangelista, Lorenza Brescia, Pasquale Napolitano, Paolo Polisena, Nicolina Gianfrancesco, Domenico Trivisonno, Francesco Petti, Francesca Simonelli, Settimio Rossi, Antonio Tartaglione, Nicola Rosa, Maddalena De Bernardo, Cristiana Iaculli, Anna Valeria Bux, Giulia Maggiore, Francesco Boscia, Giancarlo Sborgia, Maria Oliva Grassi, Vincenzo Scorcia, Giuseppe Giannaccare, Guglielmo Parisi, Salvatore Cillino, Francesco Alaimo, Pasquale Aragona, Alessandro Meduri, Antonio Pinna, Andrea Sollazzo, Enrico Peiretti, Emanuele Siotto, dell’Omo, Roberto, Filippelli, Mariaelena, Virgili, Gianni, Bandello, Francesco, Querques, Giuseppe, Lanzetta, Paolo, Avitabile, Teresio, Viola, Francesco, Reibaldi, Michele, Semeraro, Francesco, Quaranta, Luciano, Rizzo, Stanislao, Midena, Edoardo, Campagna, Giuseppe, Costagliola, Ciro, Marolo, Paola, Traverso, Carlo Enrico, Iester, Michele, Cutolo, Carlo Alberto, Azzolini, Claudio, Donati, Simone, Premi, Elia, Nucci, Paolo, Vujosevic, Stela, Staurenghi, Giovanni, Bottoni, Ferdinando, Romano, Francesco, Grosso, Domenico, Borrelli, Enrico, Sacconi, Riccardo, Milella, Paolo, Ganci, Simone, Romano, Mario R., Ricciardelli, Gabriella, Allegrini, Davide, Casaluci, Marco, Romano, Davide, Marchini, Giorgio, Chemello, Francesca, Amantea, Camilla, Frisina, Rino, Pilotto, Elisabetta, Parrozzani, Raffaele, Veritti, Daniele, Sarao, Valentina, Daniele, Tognetto, Busin, Massimo, Parmeggiani, Francesco, De Nadai, Katia, Furiosi, Luca, Mastropasqua, Rodolfo, Battaglia, Bruno, Gironi, Matteo, Gandolfi, Stefano, Luciani, Enrico, Mora, Paolo, Schiavi, Costantino, Bertaccini, Patrizia, Finzi, Alessandro, Roda, Matilde, Cagini, Carlo, Lupidi, Marco, Giansanti, Fabrizio, Bacherini, Daniela, Tosi, Gianmarco, De Benedetto, Elena, Nardi, Marco, Figus, Michele, Posarelli, Chiara, Mariotti, Cesare, Pirani, Vittorio, Nicolai, Michele, Bonini, Stefano, Coassin, Marco, Di Zazzo, Antonio, Savastano, Mariacristina, Savastano, Alfonso, Gambini, Gloria, Vico, Umberto De, Spadea, Leopoldo, Iannaccone, Andrea, Nucci, Carlo, Ricci, Federico, Aiello, Francesco, Afflitto, Gabriele Gallo, Mastropasqua, Leonardo, D’Onofio, Giada, Evangelista, Federica, Brescia, Lorenza, Napolitano, Pasquale, Polisena, Paolo, Gianfrancesco, Nicolina, Trivisonno, Domenico, Petti, Francesco, Simonelli, Francesca, Rossi, Settimio, Tartaglione, Antonio, Rosa, Nicola, Bernardo, Maddalena De, Iaculli, Cristiana, Valeria Bux, Anna, Maggiore, Giulia, Boscia, Francesco, Sborgia, Giancarlo, Grassi, Maria Oliva, Scorcia, Vincenzo, Giannaccare, Giuseppe, Parisi, Guglielmo, Cillino, Salvatore, Alaimo, Francesco, Aragona, Pasquale, Meduri, Alessandro, Pinna, Antonio, Sollazzo, Andrea, Peiretti, Enrico, Siotto, Emanuele, Dell'Omo, R., Filippelli, M., Virgili, G., Bandello, F., Querques, G., Lanzetta, P., Avitabile, T., Viola, F., Reibaldi, M., Semeraro, F., Quaranta, L., Rizzo, S., Midena, E., Campagna, G., Costagliola, C., Marolo, P., Traverso, C. E., Iester, M., Cutolo, C. A., Azzolini, C., Donati, S., Premi, E., Nucci, P., Vujosevic, S., Staurenghi, G., Bottoni, F., Romano, F., Grosso, D., Borrelli, E., Sacconi, R., Milella, P., Ganci, S., Romano, M. R., Ricciardelli, G., Allegrini, D., Casaluci, M., Romano, D., Marchini, G., Chemello, F., Amantea, C., Frisina, R., Pilotto, E., Parrozzani, R., Veritti, D., Sarao, V., Daniele, T., Busin, M., Parmeggiani, F., De Nadai, K., Furiosi, L., Mastropasqua, R., Battaglia, B., Gironi, M., Gandolfi, S., Luciani, E., Mora, P., Schiavi, C., Bertaccini, P., Finzi, A., Roda, M., Cagini, C., Lupidi, M., Giansanti, F., Bacherini, D., Tosi, G., De Benedetto, E., Nardi, M., Figus, M., Posarelli, C., Mariotti, C., Pirani, V., Nicolai, M., Bonini, S., Coassin, M., Di Zazzo, A., Savastano, M., Savastano, A., Gambini, G., Vico, U. D., Spadea, L., Iannaccone, A., Nucci, C., Ricci, F., Aiello, F., Afflitto, G. G., Mastropasqua, L., D'Onofio, G., Evangelista, F., Brescia, L., Napolitano, P., Polisena, P., Gianfrancesco, N., Trivisonno, D., Petti, F., Simonelli, F., Rossi, S., Tartaglione, A., Rosa, N., Bernardo, M. D., Iaculli, C., Valeria Bux, A., Maggiore, G., Boscia, F., Sborgia, G., Grassi, M. O., Scorcia, V., Giannaccare, G., Parisi, G., Cillino, S., Alaimo, F., Aragona, P., Meduri, A., Pinna, A., Sollazzo, A., Peiretti, E., and Siotto, E.
- Subjects
medicine.medical_specialty ,2019-20 coronavirus outbreak ,Coronavirus disease 2019 (COVID-19) ,medicine.medical_treatment ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,Trauma, phacoemulsification, glaucoma, retinal detachment, choroidal neovascular membranes, venous occlusive disease, corneal transplantation ,Trauma ,choroidal neovascular membranes ,retinal detachment ,Retrospective Studie ,Settore MED/30 ,medicine ,Retrospective analysis ,choroidal neovascular membrane ,Humans ,venous occlusive disease ,Retrospective Studies ,corneal transplantation ,glaucoma ,phacoemulsification ,Communicable Disease Control ,SARS-CoV-2 ,COVID-19 ,Retinal Detachment ,Settore MED/30 - Malattie Apparato Visivo ,business.industry ,Retinal detachment ,General Medicine ,Phacoemulsification ,Surgical procedures ,medicine.disease ,Surgery ,Ophthalmology ,business ,trauma ,Human - Abstract
Background/objectives: To compare the number of eye surgical procedures performed in Italy in the 2 months following the beginning of lockdown (study period) because of COVID-19 epidemic with those performed in the two earlier months of the same year (intra-year control) and in the period of 2019 corresponding to the lockdown (inter-year control). Methods: Retrospective analysis of surgical procedures carried out at 39 Academic hospitals. A distinction was made between elective and urgent procedures. Intravitreal injections were also considered. Percentages for all surgical procedures and incidence rate ratios (IRR) for rhegmatogenous retinal detachment (RRD) events were calculated. A p value Results: A total of 20,886 versus 55,259 and 56,640 patients underwent surgery during the lockdown versus intra-and inter-year control periods, respectively. During the lockdown, only 70% of patients for whom an operation/intravitreal injection was recommended, finally underwent surgery; the remaining patients did not attend because afraid of getting infected at the hospital (23%), taking public transportation (6.5%), or unavailable swabs (0.5%). Elective surgeries were reduced by 96.2% and 96.4%, urgent surgeries by 49.7% and 50.2%, and intravitreal injections by 48.5% and 48.6% in the lockdown period in comparison to intra-year and inter-year control periods, respectively. IRRs for RRDs during lockdown dropped significantly in comparison with intra- and inter-year control periods (CI: 0.65–0.80 and 0.61–0.75, respectively, p Conclusion: This study provides a quantitative analysis of the reduction of eye surgical procedures performed in Italy because of the COVID-19 epidemic.
- Published
- 2022
6. Mechanism of inflammation in age-related macular degeneration: An up-to-date on genetic landmarks
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Adolfo Sebastiani, Elia Bonomo Roversi, Paola Franceschelli, Francesco Sorrentino, Paolo Perri, Michele Rubini, Carlo Incorvaia, Sergio D'Angelo, Katia De Nadai, Mario R. Romano, Ciro Costagliola, Francesco Semeraro, Francesco Parmeggiani, Parmeggiani, F, Sorrentino, Sf, Romano, Mario, Costagliola, C, Semeraro, F, Incorvaia, C, D’Angelo, S, Perri, P, De Nadai, K, Bonomo Roversi, E, Franceschelli, P, Sebastiani, A, and Rubini, M.
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Aging ,genetic structures ,Immunology ,Inflammation ,Review Article ,Disease ,Biology ,medicine.disease_cause ,Proinflammatory cytokine ,Pathogenesis ,Macular Degeneration ,Risk Factors ,lcsh:Pathology ,medicine ,Homeostasis ,Humans ,Tissue Inhibitor of Metalloproteinase-3 ,Retinal pigment epithelium ,Mechanism (biology) ,Chromosome Mapping ,Genetic Variation ,Complement System Proteins ,Lipase ,Cell Biology ,Macular degeneration ,medicine.disease ,eye diseases ,Oxidative Stress ,medicine.anatomical_structure ,Cholesterol ,sense organs ,medicine.symptom ,Oxidative stress ,lcsh:RB1-214 - Abstract
Age-related macular degeneration (AMD) is the most common cause of irreversible visual impairment among people over 50 years of age, accounting for up to 50% of all cases of legal blindness in Western countries. Although the aging represents the main determinant of AMD, it must be considered a multifaceted disease caused by interactions among environmental risk factors and genetic backgrounds. Mounting evidence and/or arguments document the crucial role of inflammation and immune-mediated processes in the pathogenesis of AMD. Proinflammatory effects secondary to chronic inflammation (e.g., alternative complement activation) and heterogeneous types of oxidative stress (e.g., impaired cholesterol homeostasis) can result in degenerative damages at the level of crucial macular structures, that is photoreceptors, retinal pigment epithelium, and Bruch’s membrane. In the most recent years, the association of AMD with genes, directly or indirectly, involved in immunoinflammatory pathways is increasingly becoming an essential core for AMD knowledge. Starting from the key basic-research notions detectable at the root of AMD pathogenesis, the present up-to-date paper reviews the best-known and/or the most attractive genetic findings linked to the mechanisms of inflammation of this complex disease.
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- 2013
7. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.
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Di Iorio E, Adamo GG, Sorrentino U, De Nadai K, Barbaro V, Mura M, Pellegrini M, Boaretto F, Tavolato M, Suppiej A, Nasini F, Salviati L, and Parmeggiani F
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- Humans, Female, Male, Adult, Middle Aged, High-Throughput Nucleotide Sequencing, Mutation, Frameshift Mutation, Genes, Dominant, Exons genetics, Heterozygote, Retinitis Pigmentosa genetics, Pedigree, Eye Proteins genetics, DNA Copy Number Variations
- Abstract
Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance. The female proband, her brother, and both her sons showed typical RP, with diminished or non-recordable full-field electroretinogram, narrowing of visual field, and variable losses of central vision. To investigate this apparently autosomal dominant pedigree, next generation sequencing (NGS) of a custom panel of RP-related genes was performed, further enhanced by bioinformatic detection of copy-number variations (CNVs). Unexpectedly, all patients had a compound heterozygosity involving two known pathogenic EYS variants i.e., the exon 33 frameshift mutation c.6714delT and the exon 29 deletion c.(5927þ1_5928-1)_(6078þ1_6079-1)del, with the exception of the youngest son who was homozygous for the above-detailed frameshift mutation. No pathologic eye conditions were instead observed in the proband's husband, who was a heterozygous healthy carrier of the same c.6714delT variant in exon 33 of EYS gene. These findings provide evidence that pseudodominant pattern of inheritance can hide an autosomal recessive RP partially or totally due to CNVs, recommending CNVs study in those pedigrees which remain genetically unsolved after the completion of NGS or whole exome sequencing analysis., (© 2024. The Author(s).)
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- 2024
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8. Dexamethasone Implant Produces Better Outcomes than Oral Acetazolamide in Patients with Cystoid Macular Edema Secondary to Retinitis Pigmentosa.
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Veritti D, Sarao V, De Nadai K, Chizzolini M, Parmeggiani F, Perissin L, and Lanzetta P
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- Acetazolamide administration & dosage, Administration, Oral, Adult, Anti-Inflammatory Agents administration & dosage, Anti-Inflammatory Agents therapeutic use, Carbonic Anhydrase Inhibitors administration & dosage, Carbonic Anhydrase Inhibitors therapeutic use, Case-Control Studies, Dexamethasone administration & dosage, Drug Implants administration & dosage, Drug Implants therapeutic use, Female, Follow-Up Studies, Humans, Intravitreal Injections, Macular Edema diagnosis, Macular Edema etiology, Male, Middle Aged, Propensity Score, Prospective Studies, Retinitis Pigmentosa complications, Retinitis Pigmentosa diagnosis, Treatment Outcome, Acetazolamide therapeutic use, Dexamethasone therapeutic use, Macular Edema drug therapy, Retinitis Pigmentosa drug therapy, Visual Acuity drug effects
- Abstract
Purpose: To compare the clinical outcome of intravitreal dexamethasone implant versus oral acetazolamide in patients with cystoid macular edema (CME) secondary to retinitis pigmentosa (RP). Design: Multicenter, prospective, propensity-score-matched, comparative study. Methods: Eyes with RP and CME were treated either with intravitreal dexamethasone implant or with oral acetazolamide (500 mg/day). Patients were evaluated monthly and followed up for 12 months. Primary outcome measures were changes in central retinal thickness and best corrected visual acuity (BCVA). Adverse events were recorded. Results: Propensity score matching resulted in 2 groups of 30 eyes each. All patients completed 12 months of follow-up. Mean central retinal thickness decreased from 535 μm at baseline to 208 μm at month 12 in the dexamethasone implant group and from 519 to 339 μm in the oral acetazolamide group ( P < 0.001, Student's t -test). Mean BCVA average change from baseline during the study (area-under-the-curve approach) was -0.084 logarithm of the minimum angle of resolution (logMAR) (+4.2 letters) in the dexamethasone implant group and -0.032 (+1.6 letters) in the oral acetazolamide group ( P < 0.05, Mann-Whitney U test). Patients in the dexamethasone implant group required on average 1.7 treatments during 1 year of therapy. Conclusions: In this study, intravitreal dexamethasone implant produced better anatomic and functional improvements over oral acetazolamide in patients affected by CME secondary to RP. Larger, randomized clinical trials with longer follow-up are warranted to confirm these data.
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- 2020
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9. Application of Artificial Intelligence in Targeting Retinal Diseases.
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Sorrentino FS, Jurman G, De Nadai K, Campa C, Furlanello C, and Parmeggiani F
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- Angiogenesis Inhibitors therapeutic use, Humans, Tomography, Optical Coherence, Vascular Endothelial Growth Factor A antagonists & inhibitors, Artificial Intelligence, Diabetic Retinopathy diagnostic imaging, Diabetic Retinopathy drug therapy, Macular Degeneration diagnostic imaging, Macular Degeneration drug therapy, Retinopathy of Prematurity diagnostic imaging, Retinopathy of Prematurity drug therapy
- Abstract
Retinal diseases affect an increasing number of patients worldwide because of the aging population. Request for diagnostic imaging in ophthalmology is ramping up, while the number of specialists keeps shrinking. Cutting-edge technology embedding artificial intelligence (AI) algorithms are thus advocated to help ophthalmologists perform their clinical tasks as well as to provide a source for the advancement of novel biomarkers. In particular, optical coherence tomography (OCT) evaluation of the retina can be augmented by algorithms based on machine learning and deep learning to early detect, qualitatively localize and quantitatively measure epi/intra/subretinal abnormalities or pathological features of macular or neural diseases. In this paper, we discuss the use of AI to facilitate efficacy and accuracy of retinal imaging in those diseases increasingly treated by intravitreal vascular endothelial growth factor (VEGF) inhibitors (i.e. anti-VEGF drugs), also including integration and interpretation features in the process. We review recent advances by AI in diabetic retinopathy, age-related macular degeneration, and retinopathy of prematurity that envision a potentially key role of highly automated systems in screening, early diagnosis, grading and individualized therapy. We discuss benefits and critical aspects of automating the evaluation of disease activity, recurrences, the timing of retreatment and therapeutically potential novel targets in ophthalmology. The impact of massive employment of AI to optimize clinical assistance and encourage tailored therapies for distinct patterns of retinal diseases is also discussed., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
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- 2020
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10. Impact of methylenetetrahydrofolate reductase C677T polymorphism on the efficacy of photodynamic therapy in patients with neovascular age-related macular degeneration.
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Parmeggiani F, Gallenga CE, Costagliola C, Semeraro F, Romano MR, Dell'Omo R, Russo A, De Nadai K, Gemmati D, D'Angelo S, Bolletta E, and Sorrentino FS
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- Aged, Aged, 80 and over, Choroidal Neovascularization enzymology, Female, Humans, Logistic Models, Male, Middle Aged, Multivariate Analysis, Wet Macular Degeneration enzymology, Choroidal Neovascularization drug therapy, Choroidal Neovascularization genetics, Methylenetetrahydrofolate Reductase (NADPH2) genetics, Photochemotherapy, Polymorphism, Single Nucleotide genetics, Wet Macular Degeneration drug therapy, Wet Macular Degeneration genetics
- Abstract
The most severe visual impairments due to age-related macular degeneration (AMD) are frequently caused by the occurrence of choroidal neovascularization (CNV). Although photodynamic therapy with verteporfin (PDT-V) is currently a second-line treatment for neovascular AMD, it can be conveniently combined with drugs acting against vascular endothelial growth factor (anti-VEGF) to reduce the healthcare burden associated with the growing necessity of anti-VEGF intravitreal re-injection. Because the common 677 C > T polymorphism of the methylenetetrahydrofolate reductase gene (MTHFR-C677T; rs1801133) has been described as predictor of satisfactory short-term responsiveness of AMD-related CNV to PDT-V, we retrospectively examined the outcomes of 371 Caucasian patients treated with standardized, pro-re-nata, photodynamic regimen for 24 months. Responder (R) and non-responder (NR) patients were distinguished on the basis of the total number of scheduled PDT-V (TN-PDT-V) and change of best-corrected visual acuity (∆-BCVA). The risk for both TN-PDT-V and ∆-BCVA to pass from R to NR group was strongly correlated with CT and TT genotypes of MTHFR-C677T variant resulting, respectively, in odd ratios of 0.19 [95% CI, 0.12-0.32] and 0.09 [95% CI, 0.04-0.21] (P < 0.001), and odd ratios of 0.24 [95% CI, 0.15-0.39] and 0.03 [95% CI, 0.01-0.11] (P < 0.001). These pharmacogenetic findings indicate a rational basis to optimize the future clinical application of PDT-V during the combined treatments of AMD-related CNV, highlighting the role of thrombophilia to be aware of the efficacy profile of photodynamic therapy.
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- 2019
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11. Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
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Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, and Di Iorio E
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- Adult, DNA Mutational Analysis, Exons, Female, GTP-Binding Proteins, Genetic Association Studies, Genetic Diseases, X-Linked, Genotype, Humans, Male, Microtubule-Associated Proteins, Middle Aged, Pedigree, Phenotype, Visual Acuity, Young Adult, Eye Proteins genetics, Intracellular Signaling Peptides and Proteins genetics, Membrane Proteins genetics, Mutation, Retinitis Pigmentosa genetics
- Abstract
Purpose: To identify novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene and retinitis pigmentosa 2 (RP2) gene underlying X-linked retinitis pigmentosa (XLRP) and assess genotype-phenotype correlations., Methods: The patient cohort, consisting of 13 individuals from 3 unrelated XLRP families, underwent comprehensive ophthalmologic examination. The open reading frames of RPGR and RP2 were analyzed with Sanger sequencing in each patient. The identified genetic variants were defined as mutations or polymorphisms on the basis of their pathological effect., Results: We found 3 genetic variants: a novel mutation c.1591G>T in exon 14 and a novel polymorphism c.1105C>T in exon 10, resulting in p.Glu531* and p.Arg369Cys of RPGR gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 gene. Considering our XLRP probands, RPGR-related phenotypic damages were similar and less severe than those of the patient with the RP2 mutation. On the other hand, the female carriers of XLRP variants showed different RPGR-related consequences, ranging from rods hypofunctionality in c.1591G>T nonsense heterozygosity to no retinal changes in c.1105C>T polymorphic heterozygosity., Conclusions: These findings broaden the spectrum of RPGR mutations and phenotypic variability of the disease, which will be useful for genetic consultation and diagnosis in the future.
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- 2017
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12. Optical coherence tomography imaging in the management of the Argus II retinal prosthesis system.
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Parmeggiani F, De Nadai K, Piovan A, Binotto A, Zamengo S, and Chizzolini M
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- Adult, Blindness diagnostic imaging, Choroideremia surgery, Female, Humans, Male, Middle Aged, Postoperative Care, Preoperative Care, Retinitis Pigmentosa surgery, Blindness rehabilitation, Choroideremia diagnostic imaging, Prosthesis Implantation, Retinitis Pigmentosa diagnostic imaging, Tomography, Optical Coherence, Visual Prosthesis
- Abstract
Purpose: To report a real-life experience with the Argus II retinal prosthesis system in blind patients with end-stage retinitis pigmentosa (RP) or choroideremia (CHM), focusing on the pivotal role of optical coherence tomography (OCT) in both preoperative and postoperative management., Methods: This hospital-based case series included 3 blind patients who were uneventfully implanted with Argus II epiretinal device. These patients (2 with RP and 1 with CHM) were selected during the Argus™ II Retinal Prosthesis System PostMarket Surveillance Study Protocol. Complete screening procedures had involved 66 eyes of 33 patients afferent to the Center for Retinitis Pigmentosa of the Veneto Region., Results: Preoperative OCT examination resulted in the exclusion of 8 eyes in 4 patients with bilateral posterior staphyloma diagnosing unexpected staphylomatous macular patterns in 2 patients with RP and no sign of pathologic myopia. Postoperative OCT study of Argus II proximity to retinal surface indicated a plausible correlation between electrode-retina distance and perceptual threshold in 2 of our 3 patients. In particular, during the first 6 months of follow-up, the patient with the closest contact between device and macula showed a continuous vision-related improvement in the performance of several real-life tasks., Conclusions: The present findings illustrate the modalities by which each different OCT examination is an essential tool to optimize safety and efficacy profiles during Argus II protocol. Optical coherence tomography will be crucial for future investigative approaches on patient selection criteria and next-generation implant design.
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- 2017
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13. Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.
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Parmeggiani F, Barbaro V, De Nadai K, Lavezzo E, Toppo S, Chizzolini M, Palù G, Parolin C, and Di Iorio E
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- Adult, Child, DNA Mutational Analysis, Exons, Eye Proteins chemistry, Female, Frameshift Mutation, Genetic Association Studies, Genotype, Hemizygote, Heterozygote, Humans, Italy, Male, Middle Aged, Myopia pathology, Open Reading Frames genetics, Pedigree, Protein Structure, Tertiary, Retinitis Pigmentosa pathology, Eye Proteins genetics, Genes, X-Linked genetics, Myopia genetics, Retinitis Pigmentosa genetics, White People genetics
- Abstract
The aim of this study was to describe a new pathogenic variant in the mutational hot spot exon ORF15 of retinitis pigmentosa GTPase regulator (RPGR) gene within an Italian family with X-linked retinitis pigmentosa (RP), detailing its distinctive genotype-phenotype correlation with pathologic myopia (PM). All members of this RP-PM family underwent a complete ophthalmic examination. The entire open reading frames of RPGR and retinitis pigmentosa 2 genes were analyzed by Sanger sequencing. A novel frame-shift mutation in exon ORF15 of RPGR gene (c.2091_2092insA; p.A697fs) was identified as hemizygous variant in the male proband with RP, and as heterozygous variant in the females of this pedigree who invariably exhibited symmetrical PM in both eyes. The c.2091_2092insA mutation coherently co-segregated with the observed phenotypes. These findings expand the spectrum of X-linked RP variants. Interestingly, focusing on Caucasian ethnicity, just three RPGR mutations are hitherto reported in RP-PM families: one of these is located in exon ORF15, but none appears to be characterized by a high penetrance of PM trait as observed in the present, relatively small, pedigree. The geno-phenotypic attributes of this heterozygosity suggest that gain-of-function mechanism could give rise to PM via a degenerative cell-cell remodeling of the retinal structures.
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- 2016
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14. Effect of Factor XIII-A G185T Polymorphism on Visual Prognosis after Photodynamic Therapy for Neovascular Macular Degeneration.
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Parmeggiani F, Costagliola C, Semeraro F, Romano MR, Rinaldi M, Gallenga CE, Serino ML, Incorvaia C, D'Angelo S, De Nadai K, Dell'Omo R, Russo A, Gemmati D, and Perri P
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- Adult, Aged, Aged, 80 and over, Choroidal Neovascularization genetics, Choroidal Neovascularization pathology, Female, Humans, Macular Degeneration complications, Male, Middle Aged, Myopia, Degenerative complications, Photochemotherapy methods, Photosensitizing Agents pharmacology, Porphyrins pharmacology, Retrospective Studies, Treatment Outcome, Verteporfin, Visual Acuity drug effects, White People genetics, Choroidal Neovascularization drug therapy, Choroidal Neovascularization etiology, Factor VIII genetics, Photosensitizing Agents administration & dosage, Polymorphism, Single Nucleotide, Porphyrins administration & dosage
- Abstract
Macular degenerations represent leading causes of central blindness or low vision in developed countries. Most of these severe visual disabilities are due to age-related macular degeneration (AMD) and pathologic myopia (PM), both of which are frequently complicated by subfoveal choroidal neovascularization (CNV). Photodynamic therapy with verteporfin (PDT-V) is still employed for CNV treatment in selected cases or in combined regimen. In Caucasian patients, the common polymorphism G185T of factor XIII-A gene (FXIII-A-G185T; rs5985) has been described as predictor of poor angiographic CNV responsiveness to PDT-V. Nevertheless, the prognostic implications of this pharmacogenetic determinant on long-term visual outcome after a PDT-V regimen have not been evaluated. We retrospectively selected Caucasian patients presenting with treatment-naive CNV and receiving standardized PDT-V protocol for two years. The study population included patients affected by subfoveal CNV secondary to AMD or PM. We assessed the correlations between the polymorphic allele T of FXIII-A-G185T and: (1) total number of photodynamic treatments; and (2) change in visual acuity from baseline to the end of the follow-up period. Considering a total study population of 412 patients with neovascular AMD or PM, the carriers of 185 T-allele of FXIII-A (GT or TT genotype) received a higher number of photodynamic treatments than patients without it (GG wild-type genotype) (p < 0.01; mean number of PDT-V: 5.51 vs. 3.76, respectively). Moreover, patients with 185 T-allele of FXIII-A had a more marked worsening of visual acuity at 24 months than those with the GG-185 wild genotype (p < 0.01; mean difference in logMAR visual acuity: 0.22 vs. 0.08, respectively). The present findings show that the G185T polymorphism of the FXIII-A gene is associated with significant differences in the long-term therapeutic outcomes of patients treated with standardized PDT-V protocol. The comprehensive appraisal of both anti-thrombophilic effects due to FXIII-A G185T variant and photo-thrombotic action of PDT-V toward CNV provides several clues about the rationale of this intriguing pharmacogenetic correlation. Further investigations are warranted to outline the appropriate paradigm for guiding PDT-V utilization in the course of the combined therapeutic protocol for neovascular macular degeneration.
- Published
- 2015
- Full Text
- View/download PDF
15. Mechanism of inflammation in age-related macular degeneration: an up-to-date on genetic landmarks.
- Author
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Parmeggiani F, Sorrentino FS, Romano MR, Costagliola C, Semeraro F, Incorvaia C, D'Angelo S, Perri P, De Nadai K, Bonomo Roversi E, Franceschelli P, Sebastiani A, and Rubini M
- Subjects
- Aging, Cholesterol metabolism, Chromosome Mapping, Complement System Proteins metabolism, Genetic Variation, Homeostasis, Humans, Lipase genetics, Macular Degeneration immunology, Oxidative Stress, Risk Factors, Tissue Inhibitor of Metalloproteinase-3 genetics, Inflammation pathology, Macular Degeneration diagnosis, Macular Degeneration genetics
- Abstract
Age-related macular degeneration (AMD) is the most common cause of irreversible visual impairment among people over 50 years of age, accounting for up to 50% of all cases of legal blindness in Western countries. Although the aging represents the main determinant of AMD, it must be considered a multifaceted disease caused by interactions among environmental risk factors and genetic backgrounds. Mounting evidence and/or arguments document the crucial role of inflammation and immune-mediated processes in the pathogenesis of AMD. Proinflammatory effects secondary to chronic inflammation (e.g., alternative complement activation) and heterogeneous types of oxidative stress (e.g., impaired cholesterol homeostasis) can result in degenerative damages at the level of crucial macular structures, that is photoreceptors, retinal pigment epithelium, and Bruch's membrane. In the most recent years, the association of AMD with genes, directly or indirectly, involved in immunoinflammatory pathways is increasingly becoming an essential core for AMD knowledge. Starting from the key basic-research notions detectable at the root of AMD pathogenesis, the present up-to-date paper reviews the best-known and/or the most attractive genetic findings linked to the mechanisms of inflammation of this complex disease.
- Published
- 2013
- Full Text
- View/download PDF
16. Mechanism of inflammation in age-related macular degeneration.
- Author
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Parmeggiani F, Romano MR, Costagliola C, Semeraro F, Incorvaia C, D'Angelo S, Perri P, De Palma P, De Nadai K, and Sebastiani A
- Subjects
- Animals, C-Reactive Protein physiology, Complement System Proteins physiology, Humans, Inflammation complications, Macular Degeneration etiology
- Abstract
Age-related macular degeneration (AMD) is a multifactorial disease that represents the most common cause of irreversible visual impairment among people over the age of 50 in Europe, the United States, and Australia, accounting for up to 50% of all cases of central blindness. Risk factors of AMD are heterogeneous, mainly including increasing age and different genetic predispositions, together with several environmental/epigenetic factors, that is, cigarette smoking, dietary habits, and phototoxic exposure. In the aging retina, free radicals and oxidized lipoproteins are considered to be major causes of tissue stress resulting in local triggers for parainflammation, a chronic status which contributes to initiation and/or progression of many human neurodegenerative diseases such as AMD. Experimental and clinical evidences strongly indicate the pathogenetic role of immunologic processes in AMD occurrence, consisting of production of inflammatory related molecules, recruitment of macrophages, complement activation, microglial activation and accumulation within those structures that compose an essential area of the retina known as macula lutea. This paper reviews some attractive aspects of the literature about the mechanisms of inflammation in AMD, especially focusing on those findings or arguments more directly translatable to improve the clinical management of patients with AMD and to prevent the severe vision loss caused by this disease.
- Published
- 2012
- Full Text
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17. Genetic predictors of response to photodynamictherapy.
- Author
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Parmeggiani F, Gemmati D, Costagliola C, Semeraro F, Perri P, D'Angelo S, Romano MR, De Nadai K, Sebastiani A, and Incorvaia C
- Subjects
- Angiogenesis Inhibitors therapeutic use, C-Reactive Protein genetics, Choroidal Neovascularization etiology, Choroidal Neovascularization genetics, Humans, Macular Degeneration complications, Macular Degeneration genetics, Pharmacogenetics, Photosensitizing Agents therapeutic use, Porphyrins therapeutic use, Vascular Endothelial Growth Factor A antagonists & inhibitors, Verteporfin, Choroidal Neovascularization drug therapy, Photochemotherapy, Polymorphism, Single Nucleotide
- Abstract
In Western countries, therapeutic management of patients affected by choroidal neovascularization (CNV) secondary to different typologies of macular degeneration represents a major health care problem. Age-related macular degeneration is the disease most frequently associated with CNV development. Schematically, CNVs can be distinguished into classic and occult subtypes, which are characterized by variable natural history and different responsiveness to some therapeutic procedures. At present, the dramatic vision loss due to CNV can be mainly treated by two interventional strategies, which are utilizable in either single or combined modalities: photodynamic therapy with verteporfin (PDT-V), and intravitreal administration of drugs acting against vascular endothelial growth factor. The combined use of PDT-V and anti-angiogenic drugs represents one of the most promising strategies against neovascular macular degeneration, but it unavoidably results in an expensive increase in health resource utilization. However, the positive data from several studies serve as a basis for reconsidering the role of PDT-V, which has undergone a renaissance prompted by the need for a more rational therapeutic approach toward CNV. New pharmacogenetic knowledge of PDT-V points to exploratory prospects to optimize the clinical application of this intriguing photothrombotic procedure. In fact, a Medline search provides data regarding the role of several single nucleotide polymorphisms (SNPs) as genetic predictors of CNV responsiveness to PDT-V. Specifically, correlations between SNPs and different levels of PDT-V efficacy have been detected by examining the gene variants influencing (i) thrombo-coagulative pathways, i.e. methylenetetrahydrofolate reductase (MTHFR) 677C>T (rs1801133), factor V (F5) 1691G>A (rs6025), prothrombin (F2) 20210G>A (rs1799963), and factor XIII-A (F13A1) 185G>T (rs5985); (ii) complement activation and/or inflammatory processes, i.e. complement factor H (CFH) 1277T>C (rs1061170), high-temperature requirement factor A1 (HTRA1) promoter -512G>A (rs11200638), and two variants of the C-reactive protein (CRP) gene (rs2808635 and rs876538); and (iii) production and bioavailability of vascular endothelial growth factor (VEGFA -2578C>A [rs699947] and rs2146323). This article critically evaluates both the clinical plausibility and the opportunity to utilize the most important SNP-response interactions of PDT-V for an effective upgrade of the current anti-CNV therapeutic scenario. In addition, the pharmacogenetics of a very severe post-PDT-V adverse event, i.e. a decrease in acute vision, is briefly discussed. A comprehensive appraisal of the findings reviewed in this article should be carefully considered to design future trials aimed at verifying (after proper genotypic stratification of the enrolled patients) whether these innovative pharmacogenetic approaches will be able to improve the multifaceted interventional management of neovascular macular degeneration.
- Published
- 2011
- Full Text
- View/download PDF
18. Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date.
- Author
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Parmeggiani F, Sato G, De Nadai K, Romano MR, Binotto A, and Costagliola C
- Abstract
The term retinitis pigmentosa (RP) indicates a heterogeneous group of genetic rare ocular diseases in which either rods or cones are prevalently damaged. RP represents the most common hereditary cause of blindness in people from 20 to 60 years old. In general, the different RP forms consist of progressive photo-receptorial neuro-degenerations, which are characterized by variable visual disabilities and considerable socio-sanitary burden. Sometimes, RP patients do not become visually impaired or legally blind until their 40-50 years of age and/or maintain a quite acceptable sight for all their life. Other individuals with RP become completely blind very early or in middle childhood. Although there is no treatment that can effectively cure RP, in some case-series the disease's progression seems to be reducible by specific preventive approaches. In the most part of RP patients, the quality of vision can be considerably increased by means of nanometer-controlled filters. In the present review, the main aspects of the routine clinical and rehabilitative managements for RP patients are described, particularly focusing on the importance of specific referral Centers to practice a real multidisciplinary governance of these dramatic diseases.
- Published
- 2011
- Full Text
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19. Inflammatory mediators and angiogenic factors in choroidal neovascularization: pathogenetic interactions and therapeutic implications.
- Author
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Campa C, Costagliola C, Incorvaia C, Sheridan C, Semeraro F, De Nadai K, Sebastiani A, and Parmeggiani F
- Subjects
- Animals, Choroidal Neovascularization etiology, Choroidal Neovascularization pathology, Humans, Macular Degeneration complications, Macular Degeneration metabolism, Macular Degeneration pathology, Angiogenesis Inducing Agents metabolism, Angiogenesis Inhibitors therapeutic use, Choroidal Neovascularization drug therapy, Choroidal Neovascularization physiopathology, Inflammation Mediators metabolism
- Abstract
Choroidal neovascularization (CNV) is a common and severe complication in heterogeneous diseases affecting the posterior segment of the eye, the most frequent being represented by age-related macular degeneration. Although the term may suggest just a vascular pathological condition, CNV is more properly definable as an aberrant tissue invasion of endothelial and inflammatory cells, in which both angiogenesis and inflammation are involved. Experimental and clinical evidences show that vascular endothelial growth factor is a key signal in promoting angiogenesis. However, many other molecules, distinctive of the inflammatory response, act as neovascular activators in CNV. These include fibroblast growth factor, transforming growth factor, tumor necrosis factor, interleukins, and complement. This paper reviews the role of inflammatory mediators and angiogenic factors in the development of CNV, proposing pathogenetic assumptions of mutual interaction. As an extension of this concept, new therapeutic approaches geared to have an effect on both the vascular and the extravascular components of CNV are discussed.
- Published
- 2010
- Full Text
- View/download PDF
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