27 results on '"Tasca, Giorgio"'
Search Results
2. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
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Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’Donnell-Luria, Anne, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, and Straub, Volker
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- 2024
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3. Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy
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Schiava, Marianela, Lofra, Robert Muni, Bourke, John P., James, Meredith K., Díaz-Manera, Jordi, Elseed, Maha A., Michel-Sodhi, Jassi, Moat, Dionne, Mccallum, Michelle, Mayhew, Anna, Ghimenton, Elisabetta, Díaz, Carla Florencia Bolaño, Malinova, Monika, Wong, Karen, Richardson, Mark, Tasca, Giorgio, Grover, Emma, Robinson, Emma-Jayne, Tanner, Stephanie, Eglon, Gail, Behar, Laura, Eagle, Michelle, Turner, Catherine, Verdú-Díaz, José, Heslop, Emma, Straub, Volker, Bettolo, Chiara Marini, and Guglieri, Michela
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- 2024
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4. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
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Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi
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- 2024
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5. Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophy.
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Barzaghi, Leonardo, Paoletti, Matteo, Monforte, Mauro, Bortolani, Sara, Bonizzoni, Chiara, Thorsten, Feiweier, Bergsland, Niels, Santini, Francesco, Deligianni, Xeni, Tasca, Giorgio, Ballante, Elena, Figini, Silvia, Ricci, Enzo, and Pichiecchio, Anna
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Introduction/Aims: Muscle diffusion tensor imaging has not yet been explored in facioscapulohumeral muscular dystrophy (FSHD). We assessed diffusivity parameters in FSHD subjects compared with healthy controls (HCs), with regard to their ability to precede any fat replacement or edema. Methods: Fat fraction (FF), water T2 (wT2), mean, radial, axial diffusivity (MD, RD, AD), and fractional anisotropy (FA) of thigh muscles were calculated in 10 FSHD subjects and 15 HCs. All parameters were compared between FSHD and controls, also exploring their gradient along the main axis of the muscle. Diffusivity parameters were tested in a subgroup analysis as predictors of disease involvement in muscle compartments with different degrees of FF and wT2 and were also correlated with clinical severity scores. Results: We found that MD, RD, and AD were significantly lower in FSHD subjects than in controls, whereas we failed to find a difference for FA. In contrast, we found a significant positive correlation between FF and FA and a negative correlation between MD, RD, and AD and FF. No correlation was found with wT2. In our subgroup analysis we found that muscle compartments with no significant fat replacement or edema (FF < 10% and wT2 < 41 ms) showed a reduced AD and FA compared with controls. Less involved compartments showed different diffusivity parameters than more involved compartments. Discussion: Our exploratory study was able to demonstrate diffusivity parameter abnormalities even in muscles with no significant fat replacement or edema. Larger cohorts are needed to confirm these preliminary findings. [ABSTRACT FROM AUTHOR]
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- 2024
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6. Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene
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Perna, Alessia, primary, Bosco, Luca, additional, Fattori, Fabiana, additional, Torchia, Eleonora, additional, Modoni, Anna, additional, Papacci, Manuela, additional, Petrucci, Antonio, additional, Tasca, Giorgio, additional, Ricci, Enzo, additional, Bertini, Enrico Silvio, additional, and Silvestri, Gabriella, additional
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- 2024
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7. 272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16–18 June 2023, Hoofddorp, The Netherlands
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Lilleker, James B., primary, Naddaf, Elie, additional, Saris, Christiaan G.J., additional, Schmidt, Jens, additional, de Visser, Marianne, additional, Weihl, Conrad C., additional, Alexandersson, Helene, additional, Alfano, Lindsay, additional, Allenbach, Yves, additional, Badrising, Umesh, additional, Benveniste, Olivier, additional, Bhai, Salman, additional, De Bleecker, Jan, additional, Breeveld, Marie Christine, additional, Chinoy, Hector, additional, Diederichsen, Louise, additional, Dimachkie, Mazen, additional, Greenberg, Steven, additional, Johari, Mridul, additional, Lilleker, James, additional, Lindgren, Ulrika, additional, Lloyd, Tom, additional, Machado, Pedro, additional, Mozaffar, Tahseen, additional, Mischke, Roland, additional, Needham, Merrilee, additional, Nishino, Ichizo, additional, Oldfors, Anders, additional, Saris, Christiaan, additional, Stenzel, Werner, additional, Tasca, Giorgio, additional, and Weihl, Conrad, additional
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- 2024
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8. Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids
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Schiava, Marianela, primary, Lofra, Robert Muni, additional, Bourke, John P., additional, Díaz‐Manera, Jordi, additional, James, Meredith K., additional, Elseed, Maha A., additional, Malinova, Monika, additional, Michel‐Sodhi, Jassi, additional, Moat, Dionne, additional, Ghimenton, Elisabetta, additional, Mccallum, Michelle, additional, Díaz, Carla Florencia Bolaño, additional, Mayhew, Anna, additional, Wong, Karen, additional, Richardson, Mark, additional, Tasca, Giorgio, additional, Eglon, Gail, additional, Eagle, Michelle, additional, Turner, Cathy, additional, Heslop, Emma, additional, Straub, Volker, additional, Bettolo, Chiara Marini, additional, and Guglieri, Michela, additional
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- 2024
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9. Models of practice and training in psychotherapy: cross-national perspectives from Italy and Canada
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Klimkowski, Victoria, primary, McRae, Sofia, additional, Blick, Alexia, additional, Beaulieu, Laurence, additional, Handley, J. Reese S., additional, Hopley, Anara A., additional, Hyde, Caroline A., additional, Jain, Devika M., additional, Kolodziejczyk, Sylvia, additional, Laliberté, Josiane, additional, Lévesque, Alexa, additional, Masri, Lara M., additional, Monet, Anya M., additional, Nediu, Reagan S., additional, Valihrach, Rachel, additional, and Tasca, Giorgio, additional
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- 2024
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10. Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation
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McNiff, Megan M., primary, Hawkins, Sheila, additional, Haase, Bine, additional, Bullivant, Joanne, additional, McIver, Tammy, additional, Mitelman, Olga, additional, Emery, Nicholas, additional, Tasca, Giorgio, additional, Voermans, Nicol, additional, and Diaz-Manera, Jordi, additional
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- 2024
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11. Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration
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Piñol-Jurado, Patricia, primary, Verdú-Díaz, José, additional, Fernández-Simón, Esther, additional, Domínguez-González, Cristina, additional, Hernández-Lain, Aurelio, additional, Lawless, Conor, additional, Vincent, Amy, additional, González-Chamorro, Alejandro, additional, Villalobos, Elisa, additional, Monceau, Alexandra, additional, Laidler, Zoe, additional, Mehra, Priyanka, additional, Clark, James, additional, Filby, Andrew, additional, McDonald, David, additional, Rushton, Paul, additional, Bowey, Andrew, additional, Alonso Pérez, Jorge, additional, Tasca, Giorgio, additional, Marini-Bettolo, Chiara, additional, Guglieri, Michela, additional, Straub, Volker, additional, Suárez-Calvet, Xavier, additional, and Díaz-Manera, Jordi, additional
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- 2024
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12. Hospital admissions from the emergency department of adult patients affected by myopathies
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Monforte, Mauro, Torchia, Eleonora, Bortolani, Sara, Ravera, Beatrice, Ricci, Enzo, Silvestri, Gabriella, Servidei, Serenella, Primiano, Guido Alessandro, Mirabella, Massimiliano, Sabatelli, Mario, Mercuri, Eugenio Maria, Franceschi, Francesco, Calabresi, Paolo, Covino, Marcello, Tasca, Giorgio, Ricci, Enzo (ORCID:0000-0003-3092-3597), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido, Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Franceschi, Francesco (ORCID:0000-0001-6266-445X), Calabresi, Paolo (ORCID:0000-0003-0326-5509), Covino, Marcello (ORCID:0000-0002-6709-2531), Monforte, Mauro, Torchia, Eleonora, Bortolani, Sara, Ravera, Beatrice, Ricci, Enzo, Silvestri, Gabriella, Servidei, Serenella, Primiano, Guido Alessandro, Mirabella, Massimiliano, Sabatelli, Mario, Mercuri, Eugenio Maria, Franceschi, Francesco, Calabresi, Paolo, Covino, Marcello, Tasca, Giorgio, Ricci, Enzo (ORCID:0000-0003-3092-3597), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido, Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Franceschi, Francesco (ORCID:0000-0001-6266-445X), Calabresi, Paolo (ORCID:0000-0003-0326-5509), and Covino, Marcello (ORCID:0000-0002-6709-2531)
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Background and purposeMyopathies are associated with classic signs and symptoms, but also with possible life-threatening complications that may require assistance in an emergency setting. This phenomenon is understudied in the literature. We aimed to assess the presentation, management, and outcomes of clinical manifestations potentially related to a muscle disorder requiring referral to the adult emergency department (ED) and hospitalization.MethodsAnonymized patient data retrieved using the International Classification of Diseases, Ninth Revision codes related to muscle disorders over 4 years were retrospectively analyzed. Medical reports were evaluated to extract demographic and clinical variables, along with outcomes. Two groups were defined based on the presence (known diagnosis [KD] group) or absence (unknown diagnosis [UD] group) of a diagnosed muscle disorder at arrival.ResultsA total of 244 patients were included, 51% of whom were affected by a known myopathy, predominantly limb-girdle muscular dystrophies and myotonic dystrophies. The main reasons for ED visits in the KD group were respiratory issues, worsening of muscle weakness, and gastrointestinal problems. Heart complications were less prevalent. In the UD group, 27 patients received a new diagnosis of a specific primary muscle disorder after the ED access, mostly an inflammatory myopathy. Death during hospitalization was recorded in 26 patients, with a higher rate in the KD group and in patients affected by mitochondrial and inflammatory myopathies. Sepsis and dyspnea were associated with increased death risk.ConclusionsRespiratory complications are the most common reason for myopathic patients accessing the ED, followed by gastrointestinal issues. Infections are severe threats and, once hospitalized, these patients have relatively high mortality.
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- 2024
13. Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene
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Perna, Alessia, Bosco, Luca, Fattori, Fabiana, Torchia, Eleonora, Modoni, Anna, Papacci, Manuela, Petrucci, Antonio, Tasca, Giorgio, Ricci, Enzo, Bertini, Enrico Silvio, Silvestri, Gabriella, Ricci, Enzo (ORCID:0000-0003-3092-3597), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Perna, Alessia, Bosco, Luca, Fattori, Fabiana, Torchia, Eleonora, Modoni, Anna, Papacci, Manuela, Petrucci, Antonio, Tasca, Giorgio, Ricci, Enzo, Bertini, Enrico Silvio, Silvestri, Gabriella, Ricci, Enzo (ORCID:0000-0003-3092-3597), and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
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This report describes a novel TTN -related phenotype in two brothers, both affected by a childhood onset, very slowly progressive myopathy with cores, associated with dilated cardiomyopathy only in their late disease stages. Clinical exome sequencing documented in both siblings the heterozygous c.2089A>T and c.19426+2T>A variants in TTN. The c.2089A>T, classified in ClinVar as possibly pathogenic, introduces a premature stop codon in exon 14, whereas the c.19426+2T>A affects TTN alternative splicing. The unfeasibility of segregation studies prevented us from establishing the inheritance mode of the muscle disease in this family, although the lack of any reported muscle or heart symptoms in both parents might support an autosomal recessive transmission. In this view, the occurrence of cardiomyopathy in both probands might be related to the c.2089A>T truncating variant in exon 14, and the childhood onset, slowly progressive myopathy to the c.19426+2T>A splicing variant, possibly allowing translation of an almost full length TTN protein.
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- 2024
14. Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy.
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Fernández-Simón, Esther, Piñol-Jurado, Patricia, Gokul-Nath, Rasya, Unsworth, Adrienne, Alonso-Pérez, Jorge, Schiava, Marianela, Nascimento, Andres, Tasca, Giorgio, Queen, Rachel, Cox, Dan, Suarez-Calvet, Xavier, and Díaz-Manera, Jordi
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DUCHENNE muscular dystrophy ,RNA sequencing ,DYSTROPHIN genes ,GENE expression profiling ,SATELLITE cells ,FACIOSCAPULOHUMERAL muscular dystrophy ,NEMALINE myopathy - Abstract
Background: Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. Muscle degeneration involves a complex interplay between multiple cell lineages spatially located within areas of damage, termed the degenerative niche, including inflammatory cells, satellite cells (SCs) and fibro-adipogenic precursor cells (FAPs). FAPs are mesenchymal stem cell which have a pivotal role in muscle homeostasis as they can either promote muscle regeneration or contribute to muscle degeneration by expanding fibrotic and fatty tissue. Although it has been described that FAPs could have a different behavior in DMD patients than in healthy controls, the molecular pathways regulating their function as well as their gene expression profile are unknown. Methods: We used single-cell RNA sequencing (scRNAseq) with 10X Genomics and Illumina technology to elucidate the differences in the transcriptional profile of isolated FAPs from healthy and DMD patients. Results: Gene signatures in FAPs from both groups revealed transcriptional differences. Seurat analysis categorized cell clusters as proliferative FAPs, regulatory FAPs, inflammatory FAPs, and myofibroblasts. Differentially expressed genes (DEGs) between healthy and DMD FAPs included upregulated genes CHI3L1, EFEMP1, MFAP5, and TGFBR2 in DMD. Functional analysis highlighted distinctions in system development, wound healing, and cytoskeletal organization in control FAPs, while extracellular organization, degradation, and collagen degradation were upregulated in DMD FAPs. Validation of DEGs in additional samples (n = 9) using qPCR reinforced the specific impact of pathological settings on FAP heterogeneity, reflecting their distinct contribution to fibro or fatty degeneration in vivo. Conclusion: Using the single-cell RNA seq from human samples provide new opportunities to study cellular coordination to further understand the regulation of muscle homeostasis and degeneration that occurs in muscular dystrophies. [ABSTRACT FROM AUTHOR]
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- 2024
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15. RareACTN2Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation
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Ranta-aho, Johanna, primary, Felice, Kevin J., additional, Jonson, Per Harald, additional, Sarparanta, Jaakko, additional, Palmio, Johanna, additional, Tasca, Giorgio, additional, Sabatelli, Mario, additional, Yvorel, Cédric, additional, Harzallah, Ines, additional, Touraine, Renaud, additional, Pais, Lynn, additional, Austin-Tse, Christina A., additional, Ganesh, Vijay, additional, O’Leary, Melanie C., additional, Rehm, Heidi L., additional, Hehir, Michael K., additional, Subramony, Sub, additional, Wu, Qian, additional, Udd, Bjarne, additional, and Savarese, Marco, additional
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- 2024
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16. Hospital admissions from the emergency department of adult patients affected by myopathies
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Monforte, Mauro, primary, Torchia, Eleonora, additional, Bortolani, Sara, additional, Ravera, Beatrice, additional, Ricci, Enzo, additional, Silvestri, Gabriella, additional, Servidei, Serenella, additional, Primiano, Guido, additional, Mirabella, Massimiliano, additional, Sabatelli, Mario, additional, Mercuri, Eugenio, additional, Franceschi, Francesco, additional, Calabresi, Paolo, additional, Covino, Marcello, additional, and Tasca, Giorgio, additional
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- 2024
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17. Predictors of Psychological Well-Being and Quality of Life in Patients with Hypertension: A Longitudinal Study.
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Crepaldi, Maura, Giannì, Jessica, Brugnera, Agostino, Greco, Andrea, Compare, Angelo, Rusconi, Maria Luisa, Poletti, Barbara, Omboni, Stefano, Tasca, Giorgio Angelo, and Parati, Gianfranco
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LOCUS of control ,RISK assessment ,SCALE analysis (Psychology) ,REPEATED measures design ,PERSONALITY development ,BODY mass index ,MENTAL health ,HEALTH status indicators ,CRONBACH'S alpha ,RESEARCH funding ,HYPERTENSION ,QUESTIONNAIRES ,ANXIETY ,EMOTIONS ,DESCRIPTIVE statistics ,LONGITUDINAL method ,METABOLIC syndrome ,PERSONALITY ,QUALITY of life ,RESEARCH ,PSYCHOMETRICS ,SOCIODEMOGRAPHIC factors ,COMPARATIVE studies ,COMORBIDITY ,SELF-perception ,WELL-being ,BLOOD pressure measurement ,EVALUATION - Abstract
Previous research has highlighted the positive impact of greater health-related quality of life (Hr-QoL) and subjective well-being (SWB) on chronic diseases' severity and progression. There is a paucity of studies investigating the long-term trajectories of these variables among hypertensive patients. The present study aims to investigate the relationships between psychological variables (Type A and D personality, locus of control—LoC, self-esteem, and trait anxiety) with SWB and Hr-QoL in patients with hypertension and comorbid metabolic syndrome. A total of 185 volunteer patients (130 males, 70.3%; mean age 54 ± 10.93) were enrolled. Patients filled out measures of Hr-QoL and SWB, LoC, and self-esteem at three time points—Type A and D behaviors and anxiety measures only at baseline. Analyses were run through two-level hierarchical mixed models with repeated measures (Level 1) nested within participants (Level 2), controlling for sociodemographic and clinical confounders. Neither Hr-QoL nor SWB changed over time. Patients with greater self-esteem and internal LoC (and lower external LoC) increased their SWB and Hr-QoL up to 1-year follow-up. A greater Type A behavior and trait anxiety at baseline predicted a longitudinal increase in most of the dependent variables. Results suggest that it could be useful to tailor interventions targeting specific variables to increase Hr-QoL and SWB among hypertensive patients. [ABSTRACT FROM AUTHOR]
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- 2024
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18. Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
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Strafella, Claudia, Colantoni, Luca, Megalizzi, Domenica, Trastulli, Giulia, Piorgo, Emma Proietti, Primiano, Guido, Sancricca, Cristina, Ricci, Giulia, Siciliano, Gabriele, Caltagirone, Carlo, Filosto, Massimiliano, Tasca, Giorgio, Ricci, Enzo, Cascella, Raffaella, and Giardina, Emiliano
- Abstract
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease, although 10%–30% of cases are sporadic. However, this percentage may include truly de novo patients (carrying a reduced D4Z4 allele that is not present in either of the parents) and patients with apparently sporadic disease resulting from mosaicism, non‐penetrance, or complex genetic situations in either patients or parents. In this study, we characterized the D4Z4 Reduced Alleles (DRA) and evaluated the frequency of truly de novo cases in FSHD1 in a cohort of DNA samples received consecutively for FSHD‐diagnostic from 100 Italian families. The D4Z4 testing revealed that 60 families reported a DRA compatible with FSHD1 (1–10 RU). The DRA co‐segregated with the disease in most cases. Five families with truly de novo cases were identified, suggesting that this condition may be slightly lower (8%) than previously reported. In addition, D4Z4 characterization in the investigated families showed 4% of mosaic cases and 2% with translocations. This study further highlighted the importance of performing family studies for clarifying apparently sporadic FSHD cases, with significant implications for genetic counseling, diagnosis, clinical management, and procreative choices for patients and families. [ABSTRACT FROM AUTHOR]
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- 2024
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19. Psychophysiological Responses to Stress Related to Anxiety in Healthy Aging
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Adorni, Roberta, Brugnera, Agostino, Gatti, Alessia, Tasca, Giorgio A., Sakatani, Kaoru, and Compare, Angelo
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Abstract.The aim of the study was to explore the effects of situational stress and anxiety in a group of healthy elderly, both in terms of psychophysiological correlates and cognitive performance. Eighteen participants (Mage= 70 ± 6.3; range 60–85) were assessed for anxiety and were instructed to perform a computerized math task, under both a stressful and a control condition, while near-infrared spectroscopy (NIRS) signal and electrocardiography (ECG) were recorded. NIRS results evidenced an increased activation of right PFC during the entire procedure, even if effect sizes between left and right channels were larger during the experimental condition. The amount of right activation during the stressful condition was positively correlated with anxiety. Response times (RTs) were slower in more anxious than in less anxious individuals, both during the control and stressful conditions. Accuracy was lower in more anxious than in less anxious individuals, only during the stressful condition. Moreover, heart rate (HR) was not modulated by situational stress, nor by anxiety. Overall, the present study suggests that in healthy elderly, anxiety level has a significant impact on cerebral responses, and both on the amount of cognitive resources and the quality of performance in stressful situations.
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- 2024
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20. 272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16–18 June 2023, Hoofddorp, The Netherlands
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Alexanderson, Helene, Alfano, Lindsay, Allenbach, Yves, Badrising, Umesh, Benveniste, Olivier, Bhai, Salman, De Bleecker, Jan, Breeveld, Marie Christine, Chinoy, Hector, Diederichsen, Louise, Dimachkie, Mazen, Greenberg, Steven, Johari, Mridul, Lilleker, James, Lindgren, Ulrika, Lloyd, Tom, Machado, Pedro, Mozaffar, Tahseen, Mischke, Roland, Naddaf, Elie, Needham, Merrilee, Nishino, Ichizo, Oldfors, Anders, Saris, Christiaan, Schmidt, Jens, Stenzel, Werner, Tasca, Giorgio, de Visser, Marianne, Weihl, Conrad, Lilleker, James B., Saris, Christiaan G.J., and Weihl, Conrad C.
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- 2024
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21. Biological biomarkers in muscle diseases relevant for follow-up and evaluation of treatment.
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Stemmerik MG, Tasca G, Gilhus NE, Servais L, Vicino A, Maggi L, Sansone V, and Vissing J
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Muscle diseases cover a diverse group of disorders that in most cases are hereditary. The rarity of the individual muscle diseases provides a challenge for researchers when wanting to establish natural history of the conditions and when trying to develop diagnostic tools, therapies, and outcome measures to evaluate disease progression. With emerging molecular therapies in many genetic muscle diseases, as well as biological therapies for the immune-mediated ones, biological biomarkers play an important role in both drug development and evaluation. In this review, we focus on the role of biological biomarkers in muscle diseases and discuss their utility as surrogate endpoints in therapeutic trials. We categorise these as either 1) disease unspecific markers, 2) markers of specific pathways that may be used for more than one disease or 3) disease-specific markers. We also propose that evaluation of specific therapeutic interventions benefits from biological markers that match the intervention., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
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- 2024
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22. Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
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Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, and Weihl CC
- Abstract
Objective: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD., Methods: The ClinGen Muscular Dystrophies and Myopathies gene curation expert panel (MDM GCEP, formerly Limb Girdle Muscular Dystrophy GCEP) convened to evaluate the strength of evidence supporting gene-disease relationships (GDR) using the ClinGen gene-disease clinical validity framework to evaluate 31 genes implicated in LGMD., Results: The GDR was exclusively LGMD for 17 genes, whereas an additional 14 genes were related to a broader phenotype encompassing congenital weakness. Four genes (CAPN3, COL6A1, COL6A2, and COL6A3) were split into two separate disease entities, based on each displaying both dominant and recessive inheritance patterns, resulting in curation of 35 GDRs. Of these, 30 (86%) were classified as definitive, 4 (11%) as moderate, and 1 (3%) as limited. Two genes, POMGNT1 and DAG1, though definitively related to myopathy, currently have insufficient evidence to support a relationship specifically with LGMD., Interpretation: The expert-reviewed assertions on the clinical validity of genes implicated in LGMDs form an invaluable resource for clinicians and molecular geneticists. We encourage the global neuromuscular community to publish case-level data that help clarify disputed or novel LGMD associations., (© 2024 The Author(s). Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)
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- 2024
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23. Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
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Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone YM, Pugliese A, Primiano G, Sancricca C, Lopergolo D, Greco G, Gemelli C, Ravaglia S, Bencivenga RP, Velardo D, Magri F, Valentino ML, Cheli M, Torchia E, Lucchini M, Petrucci A, Ricci G, Garibaldi M, Astrea G, Rubegni A, Angelini CI, Ariatti A, Santorelli FM, Ruggieri A, Antonini G, Siciliano G, Filosto M, Mirabella M, Liguori R, Comi GP, Ruggiero L, Grandis M, Massa R, Malandrini A, Servidei S, Mongini TE, Rodolico C, Toscano A, Previtali SC, Tonin P, Diaz-Manera J, Monforte M, Ricci E, Maggi L, and Tasca G
- Subjects
- Humans, Female, Male, Middle Aged, Italy, Adult, Retrospective Studies, Aged, Distal Myopathies genetics, Distal Myopathies pathology, Distal Myopathies epidemiology, Myopathies, Structural, Congenital genetics, Myopathies, Structural, Congenital pathology
- Abstract
Background and Objectives: The diagnostic process for myofibrillar myopathies (MFM) and distal myopathies (DM) is particularly complex because of the large number of causative genes, the existence of still molecularly undefined disease entities, and the overlapping features between the 2 categories. This study aimed to characterize a large cohort of patients affected by MFM and DM and identify the most important diagnostic and prognostic aspects of these diseases., Methods: Patients with either a myopathological diagnosis of MFM or a clinical diagnosis of DM were included in this retrospective multicentric national study. Demographic, genetic, clinical, and histopathologic data of anonymized patients were collected from the neuromuscular centers of the Italian Association of Myology network., Results: Data regarding 132 patients with MFM (mean age 57.0 ± 15.8 years, 49% female) and 298 patients with DM (mean age 50.7 ± 15.9 years, 40% female) were gathered from 20 neuromuscular centers. 69 patients fulfilled the criteria for both groups (distal myopathies with myofibrillar pathology, DM-MP). Molecular confirmation was achieved in 63% of the patients. Fifty-two percent of the patients with MFM carried pathogenic variants in either DES (n = 30), MYOT (n = 20), or DNAJB6 (n = 18), which were also the most frequent disease-causing genes in DM-MP, while GNE (n = 44) and MYH7 (n = 23) were the genes most commonly carrying pathogenic variants in DM. The mean age at onset varied from <25 years in patients with causative variants in MYH7 and DYSF to 59 years in patients with myotilinopathies. Cardiac involvement was reported in 29% of patients with MFM and 16% of patients with DM, with DES and MYH7 variants significantly associated with the development of cardiomyopathy. Respiratory impairment was more prevalent in patients with TTN and DES variants and rare in other disorders such as GNE myopathy and dysferlinopathies, which were instead associated, together with DNAJB6 -related and PLIN4 -related myopathies, with the risk of losing ambulation during the disease course., Discussion: The Italian cohort of patients with MFM and DM recapitulates the phenotypic heterogeneity and the partial overlap between the 2 groups. However, in relative contrast to the encountered phenotypic variability, only 5 genes accounted for most of the molecular diagnoses. Specific genetic entities are associated with significantly increased risk of developing cardiorespiratory complications or loss of ambulation, which has relevant prognostic implications.
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- 2024
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24. Decoding the muscle transcriptome of patients with late onset Pompe disease reveals markers of disease progression.
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Monceau A, Gokul Nath R, Suárez-Calvet X, Musumeci O, Toscano A, Kierdaszuk B, Kostera-Pruszczyk A, Domínguez-González C, Hernández-Lain A, Paradas C, Rivas E, Papadimas G, Papadopoulos C, Chrysanthou-Piterou M, Gallardo E, Olivé M, Lilleker J, Roberts ME, Marchese D, Lunazzi G, Heyn H, Fernández-Simón E, Villalobos E, Clark J, Katsikis P, Collins C, Mehra P, Laidler Z, Vincent A, Tasca G, Marini-Bettolo C, Guglieri M, Straub V, Raben N, and Díaz-Manera J
- Abstract
Late-onset Pompe Disease (LOPD) is a rare genetic disorder caused by the deficiency of acid alpha-glucosidase leading to progressive cellular dysfunction due to the accumulation of glycogen in the lysosome. The mechanism of relentless muscle damage - a classic manifestation of the disease - has been extensively studied by analysing the whole muscle tissue; however, little, if any, is known about transcriptional heterogeneity among nuclei within the multinucleated skeletal muscle cells. This is the first report of application of single nuclei RNA sequencing to uncover changes in the gene expression profile in muscle biopsies from eight patients with LOPD and four muscle samples from age and gender matched healthy controls. We matched these changes with histology findings using GeoMx Spatial Transcriptomics to compare the transcriptome of control myofibers from healthy individuals with non-vacuolated (histologically unaffected) and vacuolated (histologically affected) myofibers of LODP patients. We observed an increase in the proportion of slow and regenerative muscle fibers and macrophages in LOPD muscles. The expression of the genes involved in glycolysis was reduced, whereas the expression of the genes involved in the metabolism of lipids and amino acids was increased in non-vacuolated fibers, indicating early metabolic abnormalities. Additionally, we detected upregulation of autophagy genes, and downregulation of the genes involved in ribosomal and mitochondrial function leading to defective oxidative phosphorylation. The upregulation of the genes associated with inflammation, apoptosis and muscle regeneration was observed only in vacuolated fibers. Notably, enzyme replacement therapy - the only available therapy for the disease - showed a tendency to restore metabolism dysregulation, particularly within slow fibers. A combination of single nuclei RNA sequencing and spatial transcriptomics revealed the landscape of normal and the diseased muscle, and highlighted the early abnormalities associated with the disease progression. Thus, the application of these two new cutting-edge technologies provided insight into the molecular pathophysiology of muscle damage in LOPD and identified potential avenues for therapeutic intervention., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)
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- 2024
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25. Models of practice and training in psychotherapy: cross-national perspectives from Italy and Canada.
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Klimkowski V, McRae S, Blick A, Beaulieu L, Handley JRS, Hopley AA, Hyde CA, Jain DM, Kolodziejczyk S, Laliberté J, Lévesque A, Masri LM, Monet AM, Nediu RS, Valihrach R, and Tasca G
- Abstract
Internationally, there is ongoing concern about accessibility to mental health care and training. The goal of this study was to explore commonalities and differences within models of clinical psychology and psychotherapy in Ontario, Canada, and Lombardia, Italy, respectively, to inform improvements to the accessibility of mental health care and training. Using key informant sampling, we recruited ten students and professionals in Italy and Canada who study or work in psychology for semi-structured interviews. We analyzed the interview content using an inductive approach for thematic analysis within countries and meta-theme analysis across countries. The findings indicated three cross-national meta-themes: the need to integrate evidence with practice, the limited accessibility of training for students and treatment for patients, and the importance of the quality of training programs. Despite some differences regarding the amount of scientific training, personal therapy for trainees, and the prominence of cultural diversity training, Canadian and Italian psychology professionals and students shared experiences of psychotherapy practice and clinical psychology training. The three cross-national meta-themes indicate which issues in training and practice may be relevant worldwide and where to focus resources. The findings can inform international collaborations regarding training model structures that may increase access to psychology training and may increase consensus on professional recognition standards to improve mobility for professionals. These changes could reduce barriers to mental healthcare services for patients.
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- 2024
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26. Group member attachment style interacts with actor and partner helping alliance to predict decreasing binge eating episodes.
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Lo Coco G, Brugnera A, Salerno L, Compare A, Tasca GA, and Kivlighan DM Jr
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Objective: An individual's attachment style may impact how they interact with their therapy group. This study examined the moderating role of a group member's attachment on the dynamic relationships between that group member's (actor) and other group members' (partner) therapeutic alliances and symptom outcomes. Method: This is a secondary analysis of data from a trial testing the outcome of emotionally-focused group therapy for binge-eating disorder. The sample consisted of 2,360 sessions nested within 118 group members who attended a 20-session treatment. Patients recorded binge eating episodes (BEE), their body weight and an alliance measure session-by-session., Results: Dynamic structural equation modelling showed decreases in BEE and weight over the therapy. When attachment style was not included in the model, higher-than-average partner's alliance scores in the previous session were related to decreases in BEE in the current session. Attachment style moderated these actor and partner effects. For patients with preoccupied attachments, higher-than-average actor alliance in the previous session was related to subsequent decreases in BEE. For patients with dismissing or disorganized attachments, higher partner alliance in the previous session was related to subsequent decreases in BEE., Conclusion: Group members' attachment characteristics can play a role in the development of alliance-outcome patterns in group therapy.
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- 2024
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27. Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
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Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Palmio J, Tasca G, Sabatelli M, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh V, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, and Savarese M
- Abstract
Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begins in the distal parts of arms and legs. Recently, variants in a new disease gene, ACTN2 , have been shown to cause distal myopathy. ACTN2 , a gene previously only associated with cardiomyopathies, encodes alpha-actinin-2, a protein expressed in both cardiac and skeletal sarcomeres. The primary function of alpha-actinin-2 is to link actin and titin to the sarcomere Z-disk. New ACTN2 variants are continuously discovered, however, the clinical significance of many variants remains unknown. Thus, lack of clear genotype-phenotype correlations in ACTN2 -related diseases, actininopathies, persists., Objective: The objective of the study is to characterize the pathomechanisms underlying actininopathies., Methods: Functional characterization in C2C12 cell models of several ACTN2 variants is conducted, including frameshift and missense variants associated with dominant actininopathies. We assess the genotype-phenotype correlations of actininopathies using clinical data from several patients carrying these variants., Results: The results show that the missense variants associated with a recessive form of actininopathy do not cause detectable alpha-actinin-2 aggregates in the cell model. Conversely, dominant frameshift variants causing a protein extension do produce alpha-actinin-2 aggregates., Interpretation: The results suggest that alpha-actinin-2 aggregation is the disease mechanism underlying some dominant actininopathies, and thus we recommend that protein-extending frameshift variants in ACTN2 should be classified as pathogenic. However, this mechanism is likely elicited by only a limited number of variants. Alternative functional characterization methods should be explored to further investigate other molecular mechanisms underlying actininopathies.
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- 2024
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