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10 results on '"Casalini, Sara"'

3. DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia

Author

Traverso, Monica, primary, Baratto, Serena, additional, Iacomino, Michele, additional, Di Duca, Marco, additional, Panicucci, Chiara, additional, Casalini, Sara, additional, Grandis, Marina, additional, Falace, Antonio, additional, Torella, Annalaura, additional, Picillo, Esther, additional, Onore, Maria Elena, additional, Politano, Luisa, additional, Nigro, Vincenzo, additional, Innes, A. Micheil, additional, Barresi, Rita, additional, Bruno, Claudio, additional, Zara, Federico, additional, Fiorillo, Chiara, additional, and Scala, Marcello, additional

Published
2024
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6. Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

Author

Panicucci, Chiara, additional, Casalini, Sara, additional, Traverso, Monica, additional, Brolatti, Noemi, additional, Baratto, Serena, additional, Raffaghello, Lizzia, additional, Pedemonte, Marina, additional, Doglio, Luca, additional, Derchi, Maria, additional, Tasca, Giorgio, additional, Damasio, Beatrice M., additional, Fiorillo, Chiara, additional, and Bruno, Claudio, additional

Published
2023
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7. DAG1haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia

Author

Traverso, Monica, Baratto, Serena, Iacomino, Michele, Di Duca, Marco, Panicucci, Chiara, Casalini, Sara, Grandis, Marina, Falace, Antonio, Torella, Annalaura, Picillo, Esther, Onore, Maria Elena, Politano, Luisa, Nigro, Vincenzo, Innes, A. Micheil, Barresi, Rita, Bruno, Claudio, Zara, Federico, Fiorillo, Chiara, and Scala, Marcello

Abstract

DAG1encodes for dystroglycan, a key component of the dystrophin-glycoprotein complex (DGC) with a pivotal role in skeletal muscle function and maintenance. Biallelic loss-of-function DAG1variants cause severe muscular dystrophy and muscle-eye-brain disease. A possible contribution of DAG1deficiency to milder muscular phenotypes has been suggested. We investigated the genetic background of twelve subjects with persistent mild-to-severe hyperCKemia to dissect the role of DAG1in this condition. Genetic testing was performed through exome sequencing (ES) or custom NGS panels including various genes involved in a spectrum of muscular disorders. Histopathological and Western blot analyses were performed on muscle biopsy samples obtained from three patients. We identified seven novel heterozygous truncating variants in DAG1segregating with isolated or pauci-symptomatic hyperCKemia in all families. The variants were rare and predicted to lead to nonsense-mediated mRNA decay or the formation of a truncated transcript. In four cases, DAG1variants were inherited from similarly affected parents. Histopathological analysis revealed a decreased expression of dystroglycan subunits and Western blot confirmed a significantly reduced expression of beta-dystroglycan in muscle samples. This study supports the pathogenic role of DAG1haploinsufficiency in isolated or pauci-symptomatic hyperCKemia, with implications for clinical management and genetic counseling.

Published
2024
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8. Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients

Author

Panicucci, Chiara, primary, Casalini, Sara, additional, Damasio, Beatrice M., additional, Brolatti, Noemi, additional, Pedemonte, Marina, additional, Biolcati Rinaldi, Alessandra, additional, Morando, Simone, additional, Doglio, Luca, additional, Raffaghello, Lizzia, additional, Fiorillo, Chiara, additional, Zara, Federico, additional, Tasca, Giorgio, additional, and Bruno, Claudio, additional

Published
2023
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10. The use of essential oils in chitosan or cellulose-based materials for the production of active food packaging solutions: a review.

Author

Casalini, Sara and Baschetti, Marco Giacinti

Subjects
*ACTIVE food packaging, *ESSENTIAL oils, *CHITOSAN, *FOOD packaging, *FOOD production, *PACKAGING materials
Abstract

In recent decades, interest in sustainable food packaging systems with additional functionality, able to increase the shelf life of products, has grown steadily. Following this trend, the present review analyzes the state of the art of this active renewable packaging. The focus is on antimicrobial systems containing nanocellulose and chitosan, as support for the incorporation of essential oils. These are the most sustainable and readily available options to produce completely natural active packaging materials. After a brief overview of the different active packaging technologies, the main features of nanocellulose, chitosan, and of the different essential oils used in the field of active packaging are introduced and described. The latest findings about the nanocellulose- and chitosan-based active packaging are then presented. The antimicrobial effectiveness of the different solutions is discussed, focusing on their effect on other material properties. The effect of the different inclusion strategies is also reviewed considering both in vivo and in vitro studies, in an attempt to understand more promising solutions and possible pathways for further development. In general, essential oils are very successful in exerting antimicrobial effects against the most diffused gram-positive and gram-negative bacteria, and affecting other material properties (tensile strength, water vapor transmission rate) positively. Due to the wide variety of biopolymer matrices and essential oils available, it is difficult to create general guidelines for the development of active packaging systems. However, more attention should be dedicated to sensory analysis, release kinetics, and synergetic action of different essential oils to optimize the active packaging on different food products. [ABSTRACT FROM AUTHOR]

Published
2023
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