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1. Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy

Author

Simonelli F, Sodi A, Falsini B, Bacci G, Iarossi G, Di Iorio V, Giorgio D, Placidi G, Andrao A, Reale L, Fiorencis A, and Aoun M

Subjects
irds management, multidisciplinary, inherited retinal dystrophies, diagnosis, patient’s pathway, Ophthalmology, RE1-994
Abstract

Francesca Simonelli,1 Andrea Sodi,2 Benedetto Falsini,3,4 Giacomo Bacci,5 Giancarlo Iarossi,6 Valentina Di Iorio,1 Dario Giorgio,2 Giorgio Placidi,3,4 Assia Andrao,7 Luigi Reale,8 Alessandra Fiorencis,8 Manar Aoun9 1Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania “L. Vanvitelli”, Naples, Italy; 2Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy; 3UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; 4Dipartimento Testa-collo e organi di senso, Università Cattolica del Sacro Cuore, Rome, Italy; 5Paediatric Ophthalmology Unit, Children’s Hospital “A. Meyer”, University of Florence, Florence, Italy; 6Ophthalmology Department, Bambino Gesù IRCCS Paediatric Hospital, Rome, Italy; 7Retina Italia Onlus Association, Milan, Italy; 8Healthcare Department, Fondazione ISTUD, Milan, Italy; 9Medical Department, Novartis Farma, Origgio, ItalyCorrespondence: Luigi RealeHealthcare Department, Fondazione ISTUD, via Paolo Lomazzo 19, Milano, 20124, ItalyTel +390323933801Email lreale@istud.itFrancesca Simonelli Tel +390817704501Email francesca.simonelli@unicampania.itPurpose: Timely detection and multidisciplinary management of RPE65-related inherited retinal disorders (IRDs) can significantly improve both disease management and patient care. Thus, this Narrative Medicine (NM) project aimed to investigate the evolution of the care pathway and the expectations on genetic counseling and gene therapy by patients, caregivers, and healthcare professionals.Patients and Methods: This project was conducted between July and December 2020, involving five Italian eye clinics specialized in IRDs, targeted pediatric and adult patients, their caregivers, attending retinologists and multidisciplinary healthcare professionals. Narratives and parallel charts, together with a sociodemographic survey, were collected through the project webpage. In-depth interviews were conducted with Patient Association (PA) members and multidisciplinary healthcare professionals. All data were entered into the Nvivo Software for coding and analysis.Results: Three pediatric and five adult patients with early-onset RPE65-related IRDs as well as eight caregivers were enrolled; 11 retinologists globally wrote 27 parallel charts; in-depth interviews were done with five multidisciplinary healthcare professionals and one PA member. Early diagnosis remains challenging, and patients reported to have changed up to 10 healthcare professionals before accessing their specialized center. Despite the oftentimes lack of awareness of patients and caregivers on the purpose of genetic testing, participants generally consider gene therapy as a therapeutic chance and a historic breakthrough for the management of RPE65-related IRDs. Well-organized networks to support the patient’s referral to specialized centers – as well as a proper communication of the clinical and genetic diagnosis and the multidisciplinary approach – emerge as crucial aspects in facilitating an early diagnosis and management and a timely initiation of the rehabilitation pathway.Conclusion: The project investigated the RPE65-related IRDs care pathway while integrating the different perspectives involved through NM. The analysis explored the patient’s pathway in Italy and confirmed the need for a well-organized network and multidisciplinary care while highlighting several preliminary areas of improvement in the management of RPE65-related IRDs.Keywords: IRDs management, multidisciplinary, inherited retinal dystrophies, diagnosis, patient’s pathway

Published
2021

2. Large System Analysis of Game-Theoretic Power Control in UWB Wireless Networks with Rake Receivers

Author

Bacci, G., Luise, M., and Poor, H. V.

Subjects
Computer Science - Information Theory, Computer Science - Computer Science and Game Theory
Abstract

This paper studies the performance of partial-Rake (PRake) receivers in impulse-radio ultrawideband wireless networks when an energy-efficient power control scheme is adopted. Due to the large bandwidth of the system, the multipath channel is assumed to be frequency-selective. By using noncooperative game-theoretic models and large system analysis, explicit expressions are derived in terms of network parameters to measure the effects of self- and multiple-access interference at a receiving access point. Performance of the PRake is compared in terms of achieved utilities and loss to that of the all-Rake receiver., Comment: To appear in the Proceedings of the 8th IEEE International Workshop on Signal Processing Advances in Wireless Communications (SPAWC), Helsinki, Finland, June 17-20, 2007

Published
2007
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9. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

Author

Black G. C., Sergouniotis P., Sodi A., Leroy B. P., Van Cauwenbergh C., Liskova P., Gronskov K., Klett A., Kohl S., Taurina G., Sukys M., Haer-Wigman L., Nowomiejska K., Marques J. P., Leroux D., Cremers F. P. M., De Baere E., Dollfus H., Ashworth J., Audo I., Bacci G., Balciuniene V. J., Bargiacchi S., Bertelsen M., Black G., Boon C., Bremond-Gignac D., Buzzonetti L., Calvas P., Thomsen A. C., Chirita-Emandi A., Chokoshvili D., Cremers F., Daly A., Downes S., Fasolo A., Fasser C., Fischer D., Fortunato P., Gelzinis A., Hall G., Hamann S., Heon E., Iarossi G., Iberg C., Jouanjan G., Kaariainen H., Kahn K., Keegan D., Laengsfeld M., Leon A., Leroux B., Lorenz B., Maggi R., Mauring L., Melico P., Meunier I., Mohand-Said S., Monterosso C., Morandi P., Parmeggiani F., Passerini I., Pelletier V., Peluso F., Perdomo Y., Rapizzi E., Roos L., Roosing S., Rozet J. -M., Simonelli F., Sowden J., Stingl K., Suppiej A., Testa F., Tracewska A., Traficante G., Valeina S., Wheeler-Schilling T., Yu-Wai-Man P., Zeitz C., Zemaitiene R., Leroux, Dorothée [0000-0002-1412-6611], Apollo - University of Cambridge Repository, Ophthalmology, ANS - Complex Trait Genetics, Black, G. C., Sergouniotis, P., Sodi, A., Leroy, B. P., Van Cauwenbergh, C., Liskova, P., Gronskov, K., Klett, A., Kohl, S., Taurina, G., Sukys, M., Haer-Wigman, L., Nowomiejska, K., Marques, J. P., Leroux, D., Cremers, F. P. M., De Baere, E., Dollfus, H., Ashworth, J., Audo, I., Bacci, G., Balciuniene, V. J., Bargiacchi, S., Bertelsen, M., Black, G., Boon, C., Bremond-Gignac, D., Buzzonetti, L., Calvas, P., Thomsen, A. C., Chirita-Emandi, A., Chokoshvili, D., Cremers, F., Daly, A., Downes, S., Fasolo, A., Fasser, C., Fischer, D., Fortunato, P., Gelzinis, A., Hall, G., Hamann, S., Heon, E., Iarossi, G., Iberg, C., Jouanjan, G., Kaariainen, H., Kahn, K., Keegan, D., Laengsfeld, M., Leon, A., Leroux, B., Lorenz, B., Maggi, R., Mauring, L., Melico, P., Meunier, I., Mohand-Said, S., Monterosso, C., Morandi, P., Parmeggiani, F., Passerini, I., Pelletier, V., Peluso, F., Perdomo, Y., Rapizzi, E., Roos, L., Roosing, S., Rozet, J. -M., Simonelli, F., Sowden, J., Stingl, K., Suppiej, A., Testa, F., Tracewska, A., Traficante, G., Valeina, S., Wheeler-Schilling, T., Yu-Wai-Man, P., Zeitz, C., and Zemaitiene, R.

Subjects
0301 basic medicine, Eye Diseases, lcsh:Medicine, CHILDREN, Position statement, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], MOLECULAR-GENETICS, 0302 clinical medicine, HISTORY, Health care, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), medicine.diagnostic_test, General Medicine, Genomics, Europe, TRIALS, ERN-EYE, Rare eye diseases, medicine.symptom, Genetic and genomic testing, Human, medicine.medical_specialty, Visual impairment, LEBER CONGENITAL AMAUROSIS, Socio-culturale, DIAGNOSIS, 03 medical and health sciences, Rare Diseases, medicine, Humans, Genetic Testing, Intensive care medicine, Genetic testing, business.industry, CLINICAL-FEATURES, lcsh:R, Rare eye disease, Eye Disease, Human genetics, Clinical trial, 030104 developmental biology, Genomic, 030221 ophthalmology & optometry, Personalized medicine, business, Rare disease
Abstract

Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN–EYE) is to facilitate improvement in diagnosis of RED in European member states. Main body Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. Short conclusion Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.

Published
2021

10. Nonmetastatic Ewing family tumors: high-dose chemotherapy with stem cell rescue in poor responder patients. Results of the Italian Sarcoma Group/Scandinavian Sarcoma Group III protocol

Author

Ferrari, S., Sundby Hall, K., Luksch, R., Tienghi, A., Wiebe, T., Fagioli, F., Alvegard, T.A., Brach del Prever, A., Tamburini, A., Alberghini, M., Gandola, L., Mercuri, M., Capanna, R., Mapelli, S., Prete, A., Carli, M., Picci, P., Barbieri, E., Bacci, G., and Smeland, S.

Published
2011
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13. X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.

Author

Fortunato, P., Pagliazzi, A., Bargiacchi, S., Marziali, E., Sodi, A., Caputo, R., Passerini, I., Pelo, E., and Bacci, G. M.

Subjects
OPTICAL coherence tomography, OLDER patients, VISUAL acuity, DEGENERATION (Pathology), GENE therapy, IMMUNOSENESCENCE
Abstract

X-linked juvenile retinoschisis (×LRS) is an X-linked vitreoretinal degenerative disease that consists of variable phenotypes ranging from severe early-onset defects to subtle abnormalities diagnosed in elderly patients. XLRS is caused by a loss of function of the protein Retinoschisin (RS1), which is essential to preserve retinal integrity and function of photoreceptor-bipolar synapse. The literature data so far mostly agree on the absence of a clear genotype-phenotype correlation in XLRS. We reviewed clinical and molecular characteristics of a cohort of Italian pediatric XLRS patients to assess the presence of a correlation between genotype and phenotype severity. We retrospectively examined clinical and genetic features of a cohort of 27 XLRS patients. In this study we included patients with a diagnosis of XLRS confirmed by fundus photography, spectral domain optical coherence tomography, and molecular analysis and with an onset of less than 10 years of age. We sorted RS1 variants according to their effect of RS1 structure and function in three separate groups. According to previous studies, we did not observe a conclusive genotype-phenotype correlation in our cohort; nevertheless, we noticed that patients harboring RS1 variants leading to RS1-secreted mutants show a more homogeneous phenotype, with an overall good visual acuity, compared to the other two groups. Our data support the hypothesis that secretion profile of RS1 could influence the severity of the phenotype. More extensive and functional studies are needed to acquire notions in view of the opportunity of gene replacement therapy for XLRS patients. [ABSTRACT FROM AUTHOR]

Published
2023
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14. Visual assessment in Down Syndrome: The relevance of early visual functions

Author

Purpura, G, Bacci, G, Bargagna, S, Cioni, G, Caputo, R, Tinelli, F, Purpura G., Bacci G. M., Bargagna S., Cioni G., Caputo R., Tinelli F., Purpura, G, Bacci, G, Bargagna, S, Cioni, G, Caputo, R, Tinelli, F, Purpura G., Bacci G. M., Bargagna S., Cioni G., Caputo R., and Tinelli F.

Abstract

Background: Children with Down Syndrome (DS) have a high prevalence of ocular disorders, and even when ophthalmological deficits (i.e. refractive errors or strabismus) are corrected, visual acuity seems to have a different developmental trend compared to typical children. Unfortunately, there is no consensus about the age at which it is fundamental to perform a first comprehensive visual assessment in this population. Aims: We analyzed early visual functions in a sample of 42 Italian children with DS, in order to achieve new insights for early surveillance and intervention. Material and methods: DS children were evaluated with the Early Neurovisual Assessment, including Teller Acuity Cards (at 6, 12 and 18 months of age) and the Pediatric Ophthalmological Examination (within the 36th months of age). Results: Visual acuity in our sample was lower than findings reported in the literature on healthy Italian children, but the values were within the confidence interval reported in previous studies on DS children. Moderate or severe refractive errors (> 3diopters) were present in five children (four had hyperopia and one myopia). Abnormalities in ocular motility were observed in 15 children and pathological findings for fundus oculi or lens were found in another eight. Furthermore, ophthalmological findings correlated with visual acuity at 18 months of age. Conclusion: According to our results, the Early Neurovisual Assessment at 18 months of life is a reliable tool for early detection of visual disorders in children with DS and it is useful for programming early intervention to promote their neurodevelopment.

Published
2019

18. Neo-adjuvant Chemotherapy for Osteosarcoma of the Extremities: The Experience at the Rizzoli Institute in 210 Patients Treated with Two Successively Activated Preoperative Protocols Using High-Dose or Moderate-Dose Methotrexate + Cisplatin or High-Dose Methotrexate + Cisplatin + Doxorubicin

Author

Bacci, G., Picci, P., Mercuri, M., Avella, M., Fontana, M., Mancini, A., Gherlinzoni, F., Brach del Prever, A., Ferraro, A., Ferruzzi, A., Caldora, P., Campanacci, M., Jakesz, Raimund, editor, and Rainer, Hugo, editor

Published
1990
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31. Significant and conflicting correlation of IL-9 withPrevotellaandBacteroidesin human colorectal cancer

Author

Niccolai, E, primary, Russo, E, additional, Baldi, S, additional, Ricci, F, additional, Nannini, G, additional, Pedone, M, additional, Stingo, FC, additional, Taddei, A, additional, Ringressi, MN, additional, Bechi, P, additional, Mengoni, A, additional, Fani, R, additional, Bacci, G, additional, Fagorzi, C, additional, Chiellini, C, additional, Prisco, D, additional, Ramazzotti, M, additional, and Amedei, A, additional

Published
2020
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33. Syntactic markovian bisimulation for chemical reaction networks

Author

Cardelli, L, Tribastone, M, Tschaikowski, M, Vandin, A, Aceto, L, Bacci, G, Ingólfsdóttir, A, Legay, A, Mardare, R, Aceto, L, Bacci, G, Ingólfsdóttir, A, Legay, A, and Mardare, R

Subjects
FOS: Computer and information sciences, 0301 basic medicine, Bisimulation, Computer Science - Logic in Computer Science, Markov chain, Lumpability, Ode, 020207 software engineering, 02 engineering and technology, Logic in Computer Science (cs.LO), 03 medical and health sciences, 030104 developmental biology, Computer Science::Logic in Computer Science, 0202 electrical engineering, electronic engineering, information engineering, Applied mathematics, Equivalence relation, State space, Equivalence class, Equivalence (measure theory), Mathematics
Abstract

In chemical reaction networks (CRNs) with stochastic semantics based on continuous-time Markov chains (CTMCs), the typically large populations of species cause combinatorially large state spaces. This makes the analysis very difficult in practice and represents the major bottleneck for the applicability of minimization techniques based, for instance, on lumpability. In this paper we present syntactic Markovian bisimulation (SMB), a notion of bisimulation developed in the Larsen-Skou style of probabilistic bisimulation, defined over the structure of a CRN rather than over its underlying CTMC. SMB identifies a lumpable partition of the CTMC state space a priori, in the sense that it is an equivalence relation over species implying that two CTMC states are lumpable when they are invariant with respect to the total population of species within the same equivalence class. We develop an efficient partition-refinement algorithm which computes the largest SMB of a CRN in polynomial time in the number of species and reactions. We also provide an algorithm for obtaining a quotient network from an SMB that induces the lumped CTMC directly, thus avoiding the generation of the state space of the original CRN altogether. In practice, we show that SMB allows significant reductions in a number of models from the literature. Finally, we study SMB with respect to the deterministic semantics of CRNs based on ordinary differential equations (ODEs), where each equation gives the time-course evolution of the concentration of a species. SMB implies forward CRN bisimulation, a recently developed behavioral notion of equivalence for the ODE semantics, in an analogous sense: it yields a smaller ODE system that keeps track of the sums of the solutions for equivalent species., Extended version (with proofs), of the corresponding paper published at KimFest 2017 (http://kimfest.cs.aau.dk/)

Published
2018

41. Osteosarcoma of the pelvis

Author

Donati, D, Giacomini, S, Gozzi, E, Ferrari, S, Sangiorgi, L, Tienghi, A, DeGroot, H, Bertoni, F, Bacchini, P, Bacci, G, and Mercuri, M

Published
2004
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43. Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM)

Author

Murro, V., Mucciolo, D. P., Giorgio, D., Sodi, A., Passerini, I., Bacci, G., Bargiacchi, S., Virgili, Gianni, Rizzo, Stanislao, Virgili G., Rizzo S. (ORCID:0000-0001-6302-063X), Murro, V., Mucciolo, D. P., Giorgio, D., Sodi, A., Passerini, I., Bacci, G., Bargiacchi, S., Virgili, Gianni, Rizzo, Stanislao, Virgili G., and Rizzo S. (ORCID:0000-0001-6302-063X)

Abstract

Purpose: To investigate the prevalence and features of cystoid spaces (CS) in patients with confirmed genetic diagnosis of choroideremia (CHM) using swept source optical coherence tomography (OCT). Methods: We retrospectively reviewed CHM patients examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. We took into consideration genetically confirmed CHM patients with ophthalmological and swept source optical coherence tomography (OCT) examinations. The presence/absence and location of cystoid spaces in the retina of each eye were reported. Results: A total of 42 eyes of 21 CHM patients were included in our series. The average age of the patients was 36.5 ± 20.1 (range, 13–73 years). The average best-corrected visual acuity (BCVA) for all patients was 0.63 ± 1.00 logMar (range, 0–2,80). CS were present in 15 eyes of eight patients (8/21, 38%). In all cases, CS were located in inner nuclear layer (INL); in five eyes of three patients, CS were detected also in ganglion cell layer (GCL). CS appeared as microcistoyd abnormalities and were detected in retinal areas characterized by retinal pigment epithelium (RPE) and outer retinal layers atrophy at the transition zone. Conclusions: Cystoid spaces in choroideremia showed peculiar features; they are clusters of small-size extrafoveal degenerative cysts mainly located in inner nuclear layer at the transition zone where outer retinal layers and RPE are severely damaged.

Published
2019

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