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2. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES

Author

Erazo-Torricelli, R., primary, Gallardo, A., additional, Bertini, E., additional, Fattori, F., additional, Zakharova, A., additional, Arce, C., additional, Alcalde, E., additional, Carrasco, J., additional, and Gómez, P., additional

Published
2021
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3. CONGENITAL MYOPATHIES

Author

Erazo-Torricelli, R., primary, Arce, C., additional, Alcalde, E., additional, Urtizberea, A., additional, Reinbach, K., additional, Bertini, E., additional, Carrasco, J., additional, and Gomez, P., additional

Published
2021
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5. International retrospective natural history study of LMNA-related congenital muscular dystrophy

Author

Ben Yaou, R, Yun, P, Dabaj, I, Norato, G, Donkervoort, S, Xiong, H, Nascimento, A, Maggi, L, Sarkozy, A, Monges, S, Bertoli, M, Komaki, H, Mayer, M, Mercuri, E, Zanoteli, E, Castiglioni, C, Marini-Bettolo, C, D'Amico, A, Deconinck, N, Desguerre, I, Erazo-Torricelli, R, Gurgel-Giannetti, J, Ishiyama, A, Kleinsteuber, KS, Lagrue, E, Laugel, V, Mercier, S, Messina, S, Politano, L, Ryan, MM, Sabouraud, P, Schara, U, Siciliano, G, Vercelli, L, Voit, T, Yoon, G, Alvarez, R, Muntoni, F, Pierson, TM, Gomez-Andres, D, Foley, AR, Quijano-Roy, S, Bonnemann, CG, Bonne, G, Ben Yaou, R, Yun, P, Dabaj, I, Norato, G, Donkervoort, S, Xiong, H, Nascimento, A, Maggi, L, Sarkozy, A, Monges, S, Bertoli, M, Komaki, H, Mayer, M, Mercuri, E, Zanoteli, E, Castiglioni, C, Marini-Bettolo, C, D'Amico, A, Deconinck, N, Desguerre, I, Erazo-Torricelli, R, Gurgel-Giannetti, J, Ishiyama, A, Kleinsteuber, KS, Lagrue, E, Laugel, V, Mercier, S, Messina, S, Politano, L, Ryan, MM, Sabouraud, P, Schara, U, Siciliano, G, Vercelli, L, Voit, T, Yoon, G, Alvarez, R, Muntoni, F, Pierson, TM, Gomez-Andres, D, Foley, AR, Quijano-Roy, S, Bonnemann, CG, and Bonne, G

Abstract

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confi

Published
2021

7. Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy

Author

Conrado, D. J., Larkindale, J., Berg, A., Hill, M., Burton, J., Abrams, K. R., Abresch, R. T., Bronson, A., Chapman, D., Crowther, M., Duong, T., Gordish-Dressman, H., Harnisch, L., Henricson, E., Kim, S., Mcdonald, C. M., Schmidt, S., Vong, C., Wang, X., Wong, B. L., Yong, F., Romero, K., Vishwanathan, V., Chidambaranathan, S., Douglas Biggar, W., Mcadam, L. C., Mah, J. K., Tulinius, M., Cnaan, A., Morgenroth, L. P., Leshner, R., Tesi-Rocha, C., Thangarajh, M., Kornberg, A., Ryan, M., Nevo, Y., Dubrovsky, A., Clemens, P. R., Abdel-Hamid, H., Connolly, A. M., Pestronk, A., Teasley, J., Bertorini, T. E., Webster, R., Kolski, H., Kuntz, N., Driscoll, S., Bodensteiner, J. B., Gorni, K., Lotze, T., Day, J. W., Karachunski, P., Henricson, E. K., Joyce, N. C., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A. N., Schara, U., Sejersen, T., Shieh, P. B., Sweeney, H. L., Topaloglu, H., Vilchez, J. J., Voit, T., Wong, B., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., Devaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. H., Jongno-Gu, D. R., Comi, G. P., Darras, B. T., Dastgir, J., Desguerre, I., Escobar, R. G., Finanger, E., Guglieri, M., Hughes, I., Iannaccone, S. T., Jones, K. J., Kudr, M., Mathews, K., Parsons, J., Pereon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B. D., Selby, K., Tennekoon, G., Vita, G., Apkon, S., Barohn, R., Belousova, E., Brandsema, J., Bruno, C., Burnette, W., Butterfield, R., Byrne, B., Carlo, J., Chandratre, S., Comi, G., Connolly, A., De Groot I, I., Deconinck, N., Dooley, J., Durigneux, J., Finkel, R., Frank, L. M., Harper, A., Hattori, A., Herguner, O., Iannaccone, S., Janas, J., Jong, Y. J., Komaki, H., Lee, W. T., Leung, E., Mah, J., Mercuri, E., Mcmillan, H., Mueller-Felber, W., de Munain A, L., Nakamura, A., Niks, E., Ogata, K., Pascual, S., Pegoraro, E., Renfroe, B., Sanka, R. B., Schallner, J., Sendra, I. I., Servais, L., Smith, E., Sparks, S., Victor, R., Wicklund, M., Wilichoswki, E., Carter, G. T., and Servais, LJP

Subjects
Orphan Drug Production, Duchenne muscular dystrophy, Pharmacy, Model-informed drug development, 030226 pharmacology & pharmacy, Models, Biological, Food and drug administration, 03 medical and health sciences, 0302 clinical medicine, Models, medicine, Humans, Regulatory science, Computer Simulation, Muscular Dystrophy, Drug development tools, Duchenne muscular dystrophy consortium (D-RSC), Rare diseases, Regulatory endorsement, Clinical Trials as Topic, Muscular Dystrophy, Duchenne, United States, United States Food and Drug Administration, Pharmacology, Protocol (science), business.industry, Duchenne, Biological, medicine.disease, Clinical trial, Risk analysis (engineering), Drug development, 030220 oncology & carcinogenesis, Aggregate data, Business
Abstract

Drug development for rare diseases is challenged by small populations and limited data. This makes development of clinical trial protocols difficult and contributes to the uncertainty around whether or not a potential therapy is efficacious. The use of data standards to aggregate data from multiple sources, and the use of such integrated databases to develop statistical models can inform protocol development and reduce the risks in developing new therapies. Achieving regulatory endorsement of such models through defined pathways at the US Food and Drug Administration and European Medicines Authority allows such tools to be used by the drug development community for defined contexts of use without further need for discussion of the underlying model(s). The Duchenne Regulatory Science Consortium (D-RSC) has brought together multiple stakeholders to develop a clinical trial simulation tool for Duchenne muscular dystrophy using such an approach. Here we describe the work of D-RSC as an example of how such an approach may be effective at reducing uncertainty in drug development for rare diseases, and thus bringing effective therapies to patients faster.

Published
2019

11. Evaluation of the prevalence of skin prick test positivity toAlternaria and Cladosporium in patients with suspected respiratory allergy : A European multicenter study promoted by the Subcommittee on Aerobiology and Environmental Aspects of Inhalant Allergens of the European Academy of Allergology and Clinical Immunology

Author

D'Amato, G., Chatzigeorgiou, G., Corsico, R., Gioulekas, D., Jäger, L., Jäger, S., Kontou-Fili, K., Kouridakis, S., Liccardi, G., Meriggi, A., Palma-Carlos, A., Palma-Carlos, M. L., Aleman, A. Pagan, Parmiani, S., Puccinelli, P., Russo, M., Spieksma, F. Th. M., Torricelli, R., and Wüthrich, B.

Published
1997

16. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

Author

Goemans, Nathalie, primary, Mercuri, Eugenio, additional, Belousova, Elena, additional, Komaki, Hirofumi, additional, Dubrovsky, Alberto, additional, McDonald, Craig M., additional, Kraus, John E., additional, Lourbakos, Afrodite, additional, Lin, Zhengning, additional, Campion, Giles, additional, Wang, Susanne X., additional, Campbell, Craig, additional, Araujo, A., additional, Bertini, E., additional, Born, P., additional, Cances, C., additional, Chabrol, B., additional, Chae, J.-H., additional, Colomer Oferil, J., additional, Comi, G.P., additional, Cuisset, J.-M., additional, D'Anjou, G., additional, Desguerre, I., additional, Erazo Torricelli, R., additional, Escobar, R., additional, Feder, D., additional, Ferlini, A., additional, Giugliani, R., additional, Henricson, E., additional, Herczegfalvi, A., additional, Jong, Y.-J., additional, Kimura, S., additional, Kirschner, J.-B., additional, Kleinsteuber, K., additional, Kostera-Pruszczyk, A., additional, Kudr, M., additional, Mueller-Felber, W., additional, Niks, E.H., additional, Ogata, K., additional, Palermo, C., additional, Pane, M., additional, Pascual, I., additional, Pereon, Y., additional, Raskin, S., additional, Rasmussen, M., additional, Reed, U., additional, Schara, U., additional, Selby, K., additional, Sobreira, C., additional, Takeshima, Y., additional, Vilchez Padilla, J.J., additional, Vita, G., additional, Vondracek, P., additional, Wiegand, G., additional, and Wilichowski, E., additional

Published
2018
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17. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

McDonald, C. M., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A. N., Schara, U., Sejersen, T., Shieh, P. B., Sweeney, H. L., Topaloglu, H., Tulinius, M., Vilchez, J. J., Voit, T., Wong, B., Elfring, G., Kroger, H., Luo, X., McIntosh, J., Ong, T., Riebling, P., Souza, M., Spiegel, R. J., Peltz, S. W., Mercuri, E., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., de Vaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. -H., Jongno-gu, D. -R., Comi, G. P., Darras, B. T., Dastgir, J., Desguerre, I., Escobar, R. G., Finanger, E., Guglieri, M., Hughes, I., Iannaccone, S. T., Jones, K. J., Karachunski, P., Kudr, M., Lotze, T., Mah, J. K., Mathews, K., Nevo, Y., Parsons, J., Pereon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B. D., Ryan, M., Selby, K., Tennekoon, G., Vita, G., Mercuri E. (ORCID:0000-0002-9851-5365), McDonald, C. M., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A. N., Schara, U., Sejersen, T., Shieh, P. B., Sweeney, H. L., Topaloglu, H., Tulinius, M., Vilchez, J. J., Voit, T., Wong, B., Elfring, G., Kroger, H., Luo, X., McIntosh, J., Ong, T., Riebling, P., Souza, M., Spiegel, R. J., Peltz, S. W., Mercuri, E., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., de Vaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. -H., Jongno-gu, D. -R., Comi, G. P., Darras, B. T., Dastgir, J., Desguerre, I., Escobar, R. G., Finanger, E., Guglieri, M., Hughes, I., Iannaccone, S. T., Jones, K. J., Karachunski, P., Kudr, M., Lotze, T., Mah, J. K., Mathews, K., Nevo, Y., Parsons, J., Pereon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B. D., Ryan, M., Selby, K., Tennekoon, G., Vita, G., and Mercuri E. (ORCID:0000-0002-9851-5365)

Abstract

Background Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. Methods We did this multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 54 sites in 18 countries located in North America, Europe, the Asia-Pacific region, and Latin America. Boys aged 7–16 years with nonsense mutation DMD and a baseline 6-minute walk distance (6MWD) of 150 m or more and 80% or less of the predicted normal value for age and height were randomly assigned (1:1), via permuted block randomisation (block size of four) using an interactive voice-response or web-response system, to receive ataluren orally three times daily (40 mg/kg per day) or matching placebo. Randomisation was stratified by age (<9 years vs ≥9 years), duration of previous corticosteroid use (6 months to <12 months vs ≥12 months), and baseline 6MWD (<350 m vs ≥350 m). Patients, parents and caregivers, investigational site personnel, PTC Therapeutics employees, and all other study personnel were masked to group allocation until after database lock. The primary endpoint was change in 6MWD from baseline to week 48. We additionally did a prespecified subgroup analysis of the primary endpoint, based on baseline 6MWD, which is reflective of anticipated rates of disease progression over 1 year. The primary analysis was by intention to treat. This study is registered with ClinicalTrials.gov, number NCT01826487. Findings Between March 26, 2013, and Aug 26, 2014, we randomly assigned 230 patients to receive ataluren (n=115) or placebo (n=115); 228 patients comprised the intention-to-treat population. The least-squares mean change in 6MWD from baseline to week 48 was −47·7 m (SE 9·3

Published
2017

19. Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies

Author

Dabaj, I., primary, Ben Yaou, R., additional, Bönnemann, C., additional, Nascimento, A., additional, Rutkowski, A., additional, Erazo Torricelli, R., additional, Muntoni, F., additional, Lagrue, E., additional, Dowling, J., additional, Bushby, K., additional, Casteglioni, C., additional, Kleinsteuber, K., additional, Lorenzo, M., additional, Ishiyama, A., additional, Sejersen, T., additional, Gurgel-Giannetti, J., additional, Monges, S., additional, Bonne, G., additional, and Quijano-roy, S., additional

Published
2017
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21. Impact of digital dermoscopy analysis on the decision to follow up or to excise a pigmented skin lesion: a multicentre study

Author

Burroni, M, Wollina, U, Torricelli, R, Gilardi, S, Dell'Eva, G, Helm, C, Bardey, W, Nami, N, Nobile, F, Ceccarini, M, Pomponi, A, Alessandro, B, and Rubegni, Pietro

Subjects
Adult, Aged, 80 and over, Male, Nevus, Pigmented, Skin Neoplasms, Adolescent, Reproducibility of Results, Dermoscopy, Middle Aged, Young Adult, Predictive Value of Tests, paper 4 centres, Multivariate Analysis, Image Processing, Computer-Assisted, Humans, False Positive Reactions, Female, Child, Dysplastic Nevus Syndrome, Melanoma, Aged, Follow-Up Studies
Abstract

The quality of early malignant melanoma (MM) diagnosis is dependent on the experience of dermatologists, tools like dermoscopy and histopathology, and awareness and education of the studied population. Does a higher rate of excision of pigmented skin lesions (PSL) increase the rate of detected melanomas?The DB-MIPS objective tool, able to evaluate mathematical defined variables, has been used to verify the variability of measurements among PSL stored by five different centres located in Italy, Switzerland, and Germany.The objective analysis showed low differences in terms of moles' features among the different groups, arguing for robustness of the dermatological patient's PSL inspection. Differences in terms of false positives and predictive positive values have been detected. The tendency to follow up a lesion was proportional to the percentage of thin MM (0.75 mm tumour thickness), while the interventism was proportional to the percentage of dysplastic moles. Similar percentage of thin melanoma has been observed in all the centres, indicating a standardization in early diagnosing among experienced dermatologists. The main difference among the centres was their mode of action, i.e. to follow up or remove suspicious PSL.Interventism depends neither on the geographic site nor on the features of the observed moles. Higher removal rates do not correspond to higher MM detections: this means that an in-depth knowledge of melanoma patterns is required and follow-up of suspicious moles is highly suggested.

Published
2011

22. La conservazione ex situ della biodiversità delle specie vegetali spontanee e coltivate in Italia. Stato dell'arte, criticità e azioni da compiere

Author

Acosta, A., Alonzi, A., Annicchiarico, P., Antonacci, D., Aprile, S., Avanzato, D., Bacchetta, G., Bacchetta, L., Bagella, S., Baiocco, M., Baldi, M., Barbera, G., Bartolini, G., Baruzzi, G., Bedini, G., Belletti, P., Benvenuti, S., Bergamaschi, M., Bergamo, P., Bertin, L., Bianchi, P. G., Biscotti, N., Blando, F., Bonito, A., Bonomi, C., Borgo, M., Branca, F., Brandoni, L., Bretzel, F., Brundu, G., Bullitta, S., Burchi, G., Bussotti, F., Caboni, E., Calvo, E., Camarda, I., Camoriano, L., Cantini, C., Capriolo, A., Capuana, M., Carrabba, P., Casti, M., Cattabriga, A., Ceriani, R., Cervelli, C., Civale, P., Clerici, F., Colletti, L., Contri, M. L., Converio, F., Crescente, M. F., Crinó, P., Crosti, R., Damiano, C., Danti, R., DE GIORGIO, D., DE LISI, A., D'Egidio, M. G., DE MATTEIS TORTORA, M., DE STEFANIS, E., Delfine, S., DE ROGATIS, A., DI CANDILO, M., DI GIUSEPPE, E., D’Ovidio, C., Dominione, V., Ducci, F., Engel, P., Ercole, S., Esposito, S., Falcinelli, M., Farina, E., Fenu, G., Ferrari, V., Ferroni, F., Ficcadenti, N., Fideghelli, C., Filigheddu, R., Fineschi, S., Fiorentin, R., Franca, A., Forte, L., Fusaro, E., Gardiman, M., Gentile, A., Gentili, R., Germanà, M. A., Giacanelli, V., Giannini, M., Giannini, R., Giardina, F., Giovannini, A., Giovannini, D., Gironi, R., Giust, M., Gorian, F., Gras, M., Grassotti, A., Gratani, L., Grossoni, P., Guidi, S., Ianni, G., Inglese, P., Insero, O., Izzi, F., LA MALFA, S., LA MANTIA, T., Labra, M., Laghetti, G., Lamastra, S., Lambardi, M., LI DESTRI NICOSIA, O., Lioi, L., Liverani, A., Logozzo, G., Longhi, E., Lorenzetti, F., Lorenzetti, S., Lupotto, E., Macculi, M., Magaldi, T., Malfanti, F., Malvolti, M. E., Mameli, G., Margiotta, B., Marino, D., Marino, M., Mariotti, M. G., Mascolo, R. A., Mattana, E., Meloni, F., Milan, C., Montanari, I., Montesano, V., Moraldi, M., Mucciarelli, M., Mughini, G., Mulè, P., Negri, V., Negro, D., Nepi, M., Nervo, G., Nesti, U., Nobili, P., Notarmuzi, M. C., Orru, M., Pacini, E., Padulosi, S., Pallotta, L., Palmieri, M., Palumbo, M., Paolucci, G., Paris, P. L., Pasqua, G., Pasqui, M., Pasquini, M., Pavone, P., Pelillo, R., Pepe, R., Peratoner, G., Perri, E., Perrino, P., Petrucci, B., Pettenella, D., Piccini, C., Piergiovanni, A. R., Piffanelli, P., Pignone, D., Piluzza, G., Piotto, B., Podda, L., Polignano, G., Pollutri, A., Pontecorvo, C., Porceddu, E., Porqueddu, C., Puglisi, S., Quarta, R., Rainini, F., G. A., Re, Recupero, S., Redaelli, R., REFORGIATO RECUPERO, G., Resta, P., Romano, D., Ronchi, B., Rosellini, D., Rossi, G., Sabatti, M., Sabatini, A. G., Saccardo, F., Salvati, R., Salvioni, C., Santini, A., Saporito, L., Sarli, G., SCARASCIA MUGNOZZA, G. T., SCARASCIA MUGNOZZA, G., Scarpa, G. M., Schiavella, P., Schiavi, M., Schiavon, L., Schirone, B., Scippa, G., Sgarbi, Elisabetta, Sgorbati, S., Sgrulletta, D., Simeone, A. M., Sonnante, G., Sorrentino, C., Sottile, F., Spada, P., Speranza, M., Stanca, M., Stanisci, A., Sulas, L., Terzi, M., Terzi, V., Tomaselli, V., Tomat, E., Torricelli, R., Tugliozzi, C., Urbano, M., Vaccino, P., Valletta, A., Varone, L., Vender, C., Vento, D., Veronesi, F., Veronesi, M., Vettori, C., Vietto, L., Villa, M., Villani, G., Vlahov, G., Zanatta, K., and Zizzo, G.

Subjects
biodiversità vegetale, banche del germoplasma, conservazione ex situ, conservazione "on farm"
Published
2010

24. La conservazione ex situ della biodiversità delle specie vegetalispontanee e coltivate in Italia Stato dell’arte, criticità e azioni da compiere

Author

Acosta, Alonzi, A., Annicchiarico, P., Antonacci, D., Aprile, S., Avanzato, D., Bacchetta, G., Bacchetta, L., Bagella, S., Baiocco, M., Baldi, M., Barbera, G., Bartolini, G., Baruzzi, G., Bedini, G., Belletti, P., Benvenuti, S., Bergamaschi, M., Bergamo, P., Bertin, L., Bianchi, Pg, Biscotti, N., Blando, F., Bonito, A., Bonomi, C., Borgo, M., Branca, F., Brandoni, L., Bretzel, F., Brundu, G., Bullitta, S., Burchi, G., Bussotti, F., Caboni, E., Calvo, E., Camarda, I., Camoriano, L., Cantini, C., Capriolo, A., Capuana, M., Carrabba, P., Casti, M., Cattabriga, A., Ceriani, R., Cervelli, C., Civale, P., Clerici, F., Colletti, L., Contri, Ml, Converio, F., Crescente, M. F., Crinó, P., Crosti, R., Damiano, C., Danti, R., DE GIORGIO, D., DE LISI, A., D'Egidio, M. G., DE MATTEIS TORTORA, M., DE STEFANIS, E., Delfine, S., DE ROGATIS, A., DI CANDILO, M., DI GIUSEPPE, E., D’Ovidio, C., Dominione, V., Ducci, F., Engel, P., Ercole, S., Esposito, S., Falcinelli, M., Farina, E., Fenu, G., Ferrari, V., Ferroni, F., Ficcadenti, N., Fideghelli, C., Filigheddu, R., Fineschi, S., Fiorentin, R., Franca, A., Forte, L., Fusaro, E., Gardiman, M., Gentile, A., Gentili, R., Germanà, M., Giacanelli, V., Giannini, M., Giannini, R., Giardina, F., Agiovannini, Giovannini, D., Gironi, R., Giust, M., Gorian, F., Gras, M., Grassotti, A., Gratani, L., Grossoni, P., Guidi, S., Ianni, G., Inglese, P., Insero, O., Izzi, F., LA MALFA, S., LA MANTIA, T., Labra, M., Laghetti, G., Lamastra, S., Lambardi, M., Lanza, B., LI DESTRI NICOSIA, O., Lioi, L., Liverani, A., Logozzo, G., Longhi, E., Lorenzetti, F., Lorenzetti, S., Lupotto, E., Macculi, M., Magaldi, T., Malfanti, F., Malvolti, M. E., Mameli, G., Margiotta, B., Marino, D., Marino, M., Mariotti, Mauro, Mascolo, R. A., Mattana, E., Meloni, F., Milan, C., Montanari, I., Montesano, V., Moraldi, M., Mucciarelli, M., Mughini, G., Mulè, P., Negri, V., Negro, D., Nepi, M., Nervo, G., Nesti, U., Nobili, P., Notarmuzi, M. C., Orru, M., Pacini, E., Padulosi, S., Pallotta, L., Palmieri, M., Palumbo, M., Paolucci, G., Paris, P. L., Pasqua, G., Pasqui, M., Pasquini, M., Pavone, P., Pelillo, R., Pepe, R., Peratoner, G., Perri, E., Perrino, P., Petrucci, B., Pettenella, D., Piccini, C., Piergiovanni, A. R., Piffanelli, P., Pignone, D., Piluzza, G., Piotto, B., Podda, L., Polignano, G., Pollutri, A., Pontecorvo, C., Porceddu, E., Porqueddu, C., Puglisi, S., Quarta, R., Rainini, F., G. A., Re, Recupero, S., Redaelli, R., REFORGIATO RECUPERO, G., Resta, P., Romano, D., Ronchi, B., Rosellini, D., Rossi, G., Sabatti, M., Sabatini, A. G., Saccardo, F., Salvati, R., Salvioni, C., Santini, A., Saporito, L., Sarli, G., SCARASCIA MUGNOZZA, G. T., SCARASCIA MUGNOZZA, G., Scarpa, G. M., Schiavella, P., Schiavi, M., Schiavon, L., Schirone, B., Scippa, G., Sgarbi, E., Sgorbati, S., Sgrulletta, D., Simeone, A. M., Sonnante, G., Sorrentino, C., Sottile, F., Spada, P., Speranza, M., Stanca, M., Stanisci, A., Sulas, L., Terzi, M., Terzi, V., Tomaselli, V., Tomat, E., Torricelli, R., Tugliozzi, C., Urbano, M., Vaccino, P., Valletta, A., Varone, L., Vender, C., Vento, D., Veronesi, F., Veronesi, M., Vettori, C., Vietto, L., Villa, M., Villani, G., Vlahov, G., Zanatta, K., and Zizzo, G.

Published
2010

34. Phenotypic variation and performance of diploid subspecies of Dactylis glomerata L.

Author

Falistocco, E. and Torricelli, R.

Subjects
*ORCHARD grass, *DIPLOIDY, *PHENOTYPES, *PLANT genetics, *PHYSIOLOGICAL adaptation, *PLANT morphology, *PLANTS, *PLANT chromosomes
Abstract

Dactylis glomerataL. is one of the best known examples of a polyploid complex that includes diploid (2n = 14), tetraploid (2n = 28) and hexaploid (2n = 42) types. The diploids, descending from the ancestors of the genus, are numerous, distinct forms adapted to specific environments and include all the morphological variation and ecological adaptation found inDactylis. The objective of the present study was to shed more light on the differentiation of diploids and to obtain information for better exploiting the genetic resources of this species. To this end we carried out a discriminant analysis in the most widespread diploid subspecies based on a large number of morpho-physiological traits. We found that some characteristics, such as time to heading, time to flowering, vegetative regrowth, plant height and seed shattering are the most discriminant and enabled us to realize a more exact differentiation of the diploids with respect to the morphological criterion generally adopted. The results demonstrated that diploid taxa offer an interesting combination of relevant agronomical and ecological characteristics which could be useful in breeding programs to promote the use of this species in sustainable agriculture systems. We also performed cytological investigations and defined a general karyotype representative of the diploidDactylisconsidered in this study. [ABSTRACT FROM AUTHOR]

Published
2016
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38. Actualización en distrofias musculares

Author

Erazo-Torricelli R

Subjects
business.industry, Diagnostico diferencial, Medicine, Neurology (clinical), General Medicine, business, Humanities
Abstract

Introduccion. Los avances en genetica molecular de los ultimos quince anos han modificado profundamente nuestros conocimientos con relacion a las distrofias musculares. La clarificacion de la patogenia, debida a deficit de una proteina especifica que altera el complejo de proteinas asociadas a la distrofina en la mayoria de las distrofias, ha generado una nueva clasificacion basada en el defecto proteico y genomico. Desarrollo. En esta revision se describe la clinica, la genetica, el diagnostico y el tratamiento de las principales distrofias musculares. Las distrofias de cinturas con fenotipo similar a Duchenne (sarcoglicanopatias) se detectan por inmunohistoquimica, igual que la distrofia muscular de Emery-Dreifuss ligada al cromosoma X (deficit de emerina) y la distrofia muscular congenita clasica (deficit de merosina). Las demas distrofias de cinturas, de fenotipo heterogeneo, se confirman por inmunotincion en el musculo (disferlinopatias, caveolinopatias) y por Western blot (especialmente calpainopatias). Las distrofias musculares congenitas con malformaciones cerebrales (Fukuyama, musculo-ojo-cerebro y sindrome Walker-Warburg), y la distrofia por defecto de FKRP (del ingles fukutin related protein), solo pueden diferenciarse mediante un estudio genetico. Todas ellas muestran deplecion de a-distroglicano en el musculo. La distrofia muscular de Emery-Dreifuss autosomica dominante y la distrofia facioescapulohumeral se confirman mediante el estudio del ADN. La distrofia muscular de Duchenne/Becker, finalmente, se detecta por inmunohistoquimica, Western blot y/o analisis de ADN. El tratamiento de las distrofias musculares se basa en fisioterapia, apoyo ventilatorio, cirugia, y farmacos (especialmente corticoides, beneficiosos en la distrofia muscular de Duchenne/Becker). Conclusion. La terapia genicocelular se mantiene en un plano experimental y todavia es una posibilidad futura. Por ahora, el diagnostico preciso de la distrofia muscular permite efectuar un plan de manejo, un pronostico y un consejo genetico adecuado.

Published
2004
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40. Evaluation of the prevalence of skin prick test positivity to Alternaria and Cladosporium in patients with suspected respiratory allergy.

Author

D'Amato, G., primary, Chatzigeorgiou, G., additional, Corsico, R., additional, Gioulekas, D., additional, Jäger, L., additional, Jäger, S., additional, Kontou-Fili, K., additional, Kouridakis, S., additional, Liccardi, G., additional, Meriggi, A., additional, Palma-Carlos, A., additional, Palma-Carlos, M. L., additional, Aleman, A. Pagan, additional, Parmiani, S., additional, Puccinelli, P., additional, Russo, M., additional, Spieksma, F. Th. M., additional, Torricelli, R., additional, and Wuthrich, B., additional

Published
1997
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41. Impact of landrace germplasm, non-conventional habit and regional cultivar selection on forage and seed yield of organically grown lucerne in Italy.

Author

ANNICCHIARICO, P., PECETTI, L., and TORRICELLI, R.

Abstract

Organically grown lucerne (Medicago sativa L.) should ensure sufficiently high forage and seed yields to sustain the profitability of organic production chains. Twenty lucerne populations were evaluated for forage dry matter (DM) yield over 3 years (2005–7), and for seed yield and its components in the third year, under organic management and a mowing regime in Lodi (sub-continental climate with sandy-loam soil) and Perugia (sub-Mediterranean climate with silty-clay soil). The objectives were to assess the impact on lucerne forage and seed yield of: (i) type of germplasm (landrace or commercial cultivar); (ii) plant growth habit (erect or non-conventional); (iii) area of germplasm origin or selection (northern Italy north of the Po river, NI-N; northern Italy south of the Po river, NI-S; central Italy, CI). The populations included seven cultivars selected under conventional management and one selected under organic management, seven landraces and five breeding selections, of which one was semi-erect and one was semi-prostrate. On average, cultivar and landrace germplasm types did not differ for forage or seed yield in any geographic set of populations (NI-N, NI-S or CI), except for the higher seed yield of landraces in one set. Compared with erect germplasm, semi-prostrate germplasm exhibited distinctly lower forage and seed yield, especially where weed competition was severe (Lodi) because of poor competitive ability. Semi-erect germplasm tended to have lower forage yield across locations. Specific adaptation was the main determinant of forage and seed yield responses of landraces and cultivars. Erect populations originated in NI-N were high yielding in the test site similar to NI-N environments (Lodi) and low yielding in the location representing CI environments (Perugia). Populations that originated in CI, including the cultivar selected under organic management, displayed the opposite adaptive response. Populations that originated in NI-S, whose major environmental characteristics were somewhat intermediate between NI-N and CI, tended to be mid-ranking for forage and seed yield in each site. The large cross-over population×location interaction was confirmed by the lack of genetic correlation for forage yield (rg=−0·25, P>0·20) and the negative genetic correlation for seed yield (rg=−0·68, P<0·05) of populations across locations. No genetic correlation across locations was found for density of fertile tillers and pod fertility. The association of population seed yield with its component traits was site-specific. Cropping and seed multiplication of locally adapted erect cultivars have paramount importance for mown organically grown lucerne in Italy. [ABSTRACT FROM PUBLISHER]

Published
2012
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42. Ingestive and inhalative allergy to the mushroom <em>Boletus edulis</em>.

Author

Torricelli, R., Johansson, S. G. O., and Wuthrich, B.

Subjects
ALLERGIES, MUSHROOMS, FUNGI, BASIDIOMYCETES, PATIENTS, ANAPHYLAXIS
Abstract

This is the first report on inhalative and ingestive allergy to the common edible mushroom Boletus edulis (Be) (English, edible boletus; German, Steinpilz; French, boler; Italian, porcino or boleto) belonging to the class - Basidiomycetes. Four cases observed in our allergy unit are presented, showing different clinical manifestations of this rare allergy: as an occupational problem or life-threatening anaphylactic reactions after eating Be. In all cases, skin prick-to-prick tests with raw Be were strongly positive; in three cases, specific IgE against Be could be found. The symptoms were reproducible after an inhalation challenge test. It is noteworthy that not only can Basidiomycetes cause airborne allergy but also that edible mushrooms from this class can cause inhalative and intestinal allergy. The two patients. with strong anaphylactic reactions demonstrate that Be may have great allergenic potential. [ABSTRACT FROM AUTHOR]

Published
1997
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43. Evaluation of the prevalence of skin prick test positivity to <em>Alternaria</em> and <em>Cladosporium</em> in patients with suspected respiratory allergy.

Author

D'Amato, G., Chatzigeorgiou, G., Corsico, R., Gioulekas, D., Jäger, L., Jäger, S., Kontou-Fili, K., Kouridakis, S., Liccardi, G., Meriggi, A., Palma-Carlos, A., L.# Palma-Carlos, M., Aleman, A. Pagan, Parmiani, S., Puccinelli, P., Russo, M., Spieksma, F. Th. M., Torricelli, R., and Wüthrich, B.

Subjects
EVALUATION, SKIN, ALTERNARIA, PATIENTS, RESPIRATION, ALLERGIES
Abstract

This trial was undertaken to study, in several geographically spread European countries, the prevalence of skin prick test (SPT) positivity to Alternaria (A ) and Cladosporium (C) in subjects with nasal and/or bronchial symptoms of suspected allergic cause. Each patient completed an anamnestic questionnaire and underwent SPT with a panel of common inhalant allergens and also A and C supplied by three different laboratories, to allow for manufacturer bias. Specific serum IgE determination was carried out only in subjects with SPT positivity to A and/or C with an immunoassay system. In nine European allergology centers, a total of 877 subjects was enrolled in the trial; 83 of them showed SPT positivity to A and/or C; only nine patients showed monosensitization to A, and none to C. The highest percentage of positive subjects was found in Spain (20%); the lowest in Portugal (3%). In the oilier seven centers, the variation was 7-10%, The age range of mold-positive subjects was 5-60 years. Rhinitis was by far the most common symptom, whether associated or not with asthma and/or conjunctivitis. [ABSTRACT FROM AUTHOR]

Published
1997
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44. The Triticeae Genetic Resources of Central Italy: Collection, Evaluation and Conservation

Author

Porfiri, O., Torricelli, R., Silveri, D. D., Papa, R., Barcaccia, G., and Negri, V.

Abstract

One hundred and sk landraces belonging to 7 species of the Triticeae tribe were collected in central Italy by DBVBA (Perugia University), DIBIAGA (Ancona University) and ARSSA (Abruzzo Region Agricultural Development Agency) in different individual and joint missions. A few accessions were supplied by private and other public organisations. Triticum dicoccum Schubler is the most widespread species, followed by T. aestioum L., T. monococcum L., T. spelta L., T. turgidum var. durum Desf, Secale cereale L. and Hordeum vulgare L. Besides the presence of landraces reproduced by farmers over generations, information related to on-farm management and to qualitative/organoleptic traits as well as information related to their local names, uses, traditions and social context was gathered during the missions.The majority of the accessions was characterised by morphological and phonological traits and molecular markers.This work shows the presence of morpho-phenologic and genetic differences among landraces and the importance of some species in the agricultural systems and food customs of the investigated area. Particularly for emmer three well distinct landraces are present, “Farro Italia Centrale”, “Farro della Garfagnana” and “Farro Italia Meridionale”. Other interesting and traditional landraces are the “Solina” common wheat in Abruzzo and the “Orzo mondo” naked barley in Marche.Most of the populations are still cultivated in marginal lands and under low input or organic agronomic conditions; nevertheless, in many cases, they are found near modem varieties in conventional agriculture systems. Moreover, the in situ (on-farm) conservation of Triticeae landraces in central Italy is strictly linked to elderly farmers.

Published
2001
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45. Enhancement of Micronuclei Frequency in the Tradescantia/Micronuclei Test Using a Long Recovery Time

Author

Falistocco, E., Torricelli, R., Feretti, D., Zerbini, I., Zani, C., and Monarca, S.

Abstract

The Tradescantia/micronuclei test (TRAD/MCN) is a well-validated test for monitoring environmental genotoxicants. These pollutants induce at the early meiotic stage of pollen mother cells chromosome fragments which become micronuclei at the tetrad stage. The standard test protocol requires some hours of exposure of the inflorescences and a recovery time of about 24 hours to reach the early tetrad stage. Since the recovery period represents a critical step of the TRAD/MCN, experiments were performed to establish its length in plants of clone # 4430 of the hybrid T. hirsutiflora×T. subacaulis which is widely used in environmental monitoring. The aim of the present research was to ascertain the exact duration of recovery time in order to improve the sensitivity of the TRAD/MCN test. First, studies were performed to select the flowers at the beginning of the meiosis, and then anthers were sampled and studied for a period of 48–86 hours. The complete meiosis in the plants examined required about 80 hours. Second, exposure to genotoxic substances followed by different recovery times was carried out to demonstrate that effectiveness of the TRAD/MCN test is closely related to the duration of the recovery time. The test was carried out by exposing inflorescences to known mutagens (sodium azide and maleic hydrazide) for six hours followed by different recovery times (24–72 hours). The results showed that the frequency of micronuclei in the pollen mother cells increased with the length of the recovery time.

Published
2000
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48. Discrimination of potato (solanum tuberosum l.) accessions collected in majella national park (abruzzo, italy) using mid-infrared spectroscopy and chemometrics combined with morphological and molecular analysis

Author

Fabio Veronesi, Luciano Di Martino, Valter Di Cecco, Marco Di Santo, Angelo Antonio D’Archivio, Renzo Torricelli, Francesca Di Donato, Riccardo Aversano, Giuseppe Marcantonio, Raffaele Garramone, Emidio Albertini, Donato, F. D., Cecco, V. D., Torricelli, R., Antonio D'Archivio, A., Santo, M. D., Albertini, E., Veronesi, F., Garramone, R., Aversano, R., Marcantonio, G., and Martino, L. D.

Subjects
Germplasm, Infrared spectroscopy, Landraces, Microsatellite (SSR)DNAanalysis, Morpho-agronomic characterization, PLS-DA, Potato, Varietal discrimination, Biology, lcsh:Technology, 01 natural sciences, Mid infrared spectroscopy, lcsh:Chemistry, Chemometrics, 0404 agricultural biotechnology, General Materials Science, lcsh:QH301-705.5, Instrumentation, Fluid Flow and Transfer Processes, lcsh:T, National park, Process Chemistry and Technology, 010401 analytical chemistry, General Engineering, microsatellite (SSR) DNA analysis, 04 agricultural and veterinary sciences, Infrared spectroscopy, Landraces, Microsatellite (SSR) DNAanalysis, Morpho-agronomic characterization, PLS-DA, Potato, Varietal discrimination, Solanum tuberosum, 040401 food science, lcsh:QC1-999, 0104 chemical sciences, Computer Science Applications, Molecular analysis, Horticulture, potato, landraces, morpho-agronomic characterization, microsatellite (SSR)DNAanalysis, infrared spectroscopy, varietal discrimination, lcsh:Biology (General), lcsh:QD1-999, lcsh:TA1-2040, Genetic marker, Microsatellite, lcsh:Engineering (General). Civil engineering (General), lcsh:Physics
Abstract

Development of local plant genetic resources grown in specific territories requires approaches that are able to discriminate between local and alien germplasm. In this work, three potato (Solanum tuberosum L.) local accessions grown in the area of Majella National Park (Abruzzo, Italy) and five commercial varieties cultivated in the same area were characterized using 22 morphological descriptors and microsatellite (SSR) DNA markers. Analysis of the DNA and of the plant, leaf, flower, and tuber morpho-agronomic traits allowed for a reliable discrimination of the local potato accessions, and provided a clear picture of their genetic relationships with the commercial varieties. Moreover, infrared spectroscopy was used to acquire a fingerprint of the tuber flesh composition. A total of 279 spectra, 70% of which were used in calibration and the remaining 30% for prediction, were processed using partial least squares discriminant analysis. About 97% of the calibration samples and 80% of the prediction samples were correctly classified according to the potato origin. In summary, the combination of the three approaches were useful in the characterization and valorization of local germplasm. In particular, the molecular markers suggest that the potato accession named Montenerodomo, cultivated in Majella National Park, can be considered a local variety and can be registered into the Regional Voluntary GR Register and entered into the foreseen protection scheme, as reported by the Italian regional laws.

Published
2020

49. Gene-Environment Interactions for Parkinson's Disease.

Author

Reynoso A, Torricelli R, Jacobs BM, Shi J, Aslibekyan S, Norcliffe-Kaufmann L, Noyce AJ, and Heilbron K

Subjects
Humans, Gene-Environment Interaction, Caffeine, Risk Factors, Genetic Predisposition to Disease genetics, Genetic Risk Score, Parkinson Disease etiology, Parkinson Disease genetics, Diabetes Mellitus, Type 2 complications, Craniocerebral Trauma complications, Pesticides
Abstract

Objective: Parkinson's disease (PD) is a neurodegenerative disorder with complex etiology. Multiple genetic and environmental factors have been associated with PD, but most PD risk remains unexplained. The aim of this study was to test for statistical interactions between PD-related genetic and environmental exposures in the 23andMe, Inc. research dataset., Methods: Using a validated PD polygenic risk score and common PD-associated variants in the GBA gene, we explored interactions between genetic susceptibility factors and 7 lifestyle and environmental factors: body mass index (BMI), type 2 diabetes (T2D), tobacco use, caffeine consumption, pesticide exposure, head injury, and physical activity (PA)., Results: We observed that T2D, as well as higher BMI, caffeine consumption, and tobacco use, were associated with lower odds of PD, whereas head injury, pesticide exposure, GBA carrier status, and PD polygenic risk score were associated with higher odds. No significant association was observed between PA and PD. In interaction analyses, we found statistical evidence for an interaction between polygenic risk of PD and the following environmental/lifestyle factors: T2D (p = 6.502 × 10 -8 ), PA (p = 8.745 × 10 -5 ), BMI (p = 4.314 × 10 -4 ), and tobacco use (p = 2.236 × 10 -3 ). Although BMI and tobacco use were associated with lower odds of PD regardless of the extent of individual genetic liability, the direction of the relationship between odds of PD and T2D, as well as PD and PA, varied depending on polygenic risk score., Interpretation: We provide preliminary evidence that associations between some environmental and lifestyle factors and PD may be modified by genotype. ANN NEUROL 2024;95:677-687., (© 2023 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)

Published
2024
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50. [Update on spinal muscular atrophy treatment].

Author

Erazo Torricelli R

Subjects
Child, Humans, Muscular Atrophy, Spinal genetics, Muscular Atrophy, Spinal therapy
Abstract

Spinal muscular atrophy (SMA) has been known as a clinical entity for 130 yearsis still recognized today as the most severe autosomal recessive neuromuscular disease (5q,13,2) in pediatrics. Until 2015, SMA treatment was limited to ventilatory, nutritional, and physical therapy support. Currently, the existence of genetic treatments: gene modification by inclusion of exon 7 to the SMN2 gene (nusinersen and risdiplam) or insertion of the SMN1 gene through the adeno-associated viral transporter (onasemnogene) have radically modified the clinical evolution of children with SMA,especially if they are treated early. This review details the effects of the 3 treatments currently in use worldwide.

Published
2022

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