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212 results on '"Orsi, Laura"'

1. What Is a Good Model? : With Examples from Endocrinology

Author

Panunzi, Simona, Pompa, Marcello, Borri, Alessandro, D’Orsi, Laura, De Gaetano, Andrea, Castro, Carlos, Editor-in-Chief, Formaggia, Luca, Editor-in-Chief, Groppi, Maria, Series Editor, Larson, Mats G., Series Editor, Lopez Fernandez, Maria, Series Editor, Morales de Luna, Tomás, Series Editor, Pareschi, Lorenzo, Series Editor, Vázquez-Cendón, Elena, Series Editor, Zunino, Paolo, Series Editor, d'Onofrio, Alberto, editor, Fasano, Antonio, editor, Papa, Federico, editor, Sinisgalli, Carmela, editor, Bertuzzi, Alessandro, Foreword by, Pettorossi, Alberto, Foreword by, and Gandolfi, Riccardo, Foreword by

Published
2024
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5. Cerebellum and Emotion Recognition

Author

D’Agata, Federico, Orsi, Laura, Crusio, Wim E., Series Editor, Dong, Haidong, Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Steinlein, Ortrud, Series Editor, Xiao, Junjie, Series Editor, Adamaszek, Michael, editor, Manto, Mario, editor, and Schutter, Dennis J. L. G., editor

Published
2022
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6. "MoSpec": A customized and integrated system for model development, verification and validation.

Author

Pompa, Marcello, Panunzi, Simona, Borri, Alessandro, D'Orsi, Laura, and De Gaetano, Andrea

Subjects
ORDINARY differential equations, RESEARCH personnel, PARAMETER estimation, PHENOMENOLOGICAL biology, MATHEMATICAL models
Abstract

Background and objective: The growing availability of patient data from several clinical settings, fueled by advanced analysis systems and new diagnostics, presents a unique opportunity. These data can be used to understand disease progression and predict future outcomes. However, analysing this vast amount of data requires collaboration between physicians and experts from diverse fields like mathematics and engineering. Methods: Mathematical models play a crucial role in interpreting patient data and enable in-silico simulations for diagnosis and treatment. To facilitate the creation and sharing of such models, the CNR-IASI BioMatLab group developed the "Gemini" (MoSpec/Autocoder) system, a framework allowing researchers with basic mathematical knowledge to quickly and correctly translate biological problems into Ordinary Differential Equations models. The system facilitates the development and computation of mathematical models for the interpretation of medical and biological phenomena, also using data from the clinical setting or laboratory experiments for parameter estimation. Results: Gemini automatically generates code in multiple languages (C++, Matlab, R, and Julia) and automatically creates documentation, including code, figures, and visualizations. Conclusions: This user-friendly approach promotes model sharing and collaboration among researchers, besides vastly increasing group productivity. [ABSTRACT FROM AUTHOR]

Published
2025
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9. A New Mathematical Approach for Hashimoto's Thyroiditis in Children.

Author

Pompa, Marcello, De Gaetano, Andrea, Borri, Alessandro, Farsetti, Antonella, Nanni, Simona, D'Orsi, Laura, and Panunzi, Simona

Subjects
AUTOIMMUNE thyroiditis, THYROTROPIN, THYROID gland, SODIUM iodide, IODIDE peroxidase
Abstract

Hashimoto's thyroiditis (HT) is a prevalent autoimmune disorder marked by chronic inflammation of the thyroid gland, predominantly affecting children and adolescents. In a previous study, we developed a "maximal" mathematical model of thyroid physiology to simulate the complex interactions within the thyroid gland. The present research introduces an enhanced version of the "maximal" model, integrating the pathophysiological impacts of HT. It specifically models the adverse effects of thyroid peroxidase (TPO) and thyroglobulin (Tg) antibodies (TPOAb and TgAb) on TPO, Tg, sodium iodide symporter (NIS), albeit indirectly, and thyroid volume. Additionally, we present a new "minimal" model offering a streamlined interpretation of thyroid physiology and pathophysiology, designed for faster computational analysis while maintaining essential physiological interactions. Both models were fitted against longitudinal clinical data from patients with HT, assessing the concentrations of Thyroid Stimulating Hormone (TSH), Thyroxine (T4), and thyroid volume over 36 months, in both untreated patients and those receiving levothyroxine (LT4) treatment. The adaptation of the models to data shows that both of them accurately reproduce the available observed clinical outcomes, with the "maximal" model providing more detailed physiological insights but requiring extensive data and longer computation times. In contrast, the "minimal" model, despite exhibiting less realistic TSH oscillations, offers rapid parameter estimation and may be more feasible in clinical settings. These models hold significant potential as tools for detailed study and management of HT, enabling simulations of disease progression and therapeutic responses, thus paving the way for personalized treatment strategies. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Recent Advances in Artificial Intelligence to Improve Immunotherapy and the Use of Digital Twins to Identify Prognosis of Patients with Solid Tumors.

Author

D'Orsi, Laura, Capasso, Biagio, Lamacchia, Giuseppe, Pizzichini, Paolo, Ferranti, Sergio, Liverani, Andrea, Fontana, Costantino, Panunzi, Simona, De Gaetano, Andrea, and Lo Presti, Elena

Subjects
*DIGITAL twin, *IMMUNE checkpoint inhibitors, *ARTIFICIAL intelligence, *MACHINE learning, *COMPUTER simulation
Abstract

To date, the public health system has been impacted by the increasing costs of many diagnostic and therapeutic pathways due to limited resources. At the same time, we are constantly seeking to improve these paths through approaches aimed at personalized medicine. To achieve the required levels of diagnostic and therapeutic precision, it is necessary to integrate data from different sources and simulation platforms. Today, artificial intelligence (AI), machine learning (ML), and predictive computer models are more efficient at guiding decisions regarding better therapies and medical procedures. The evolution of these multiparametric and multimodal systems has led to the creation of digital twins (DTs). The goal of our review is to summarize AI applications in discovering new immunotherapies and developing predictive models for more precise immunotherapeutic decision-making. The findings from this literature review highlight that DTs, particularly predictive mathematical models, will be pivotal in advancing healthcare outcomes. Over time, DTs will indeed bring the benefits of diagnostic precision and personalized treatment to a broader spectrum of patients. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Author

Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Darios, Frédéric, Forlani, Sylvie, Site, Pitié-Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Fontaine, Bertrand, Azulay, Jean-Philippe, Boesfplug-Tanguy, Odile, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Laura, Jardim, Guergueltcheva, Velina, Tournev, Ivalo, Pedraza Linarès, Olga Lucia, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Lossos, Alexander, Bassi, Maria-Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Kremer, Berry, Van Roon-Mom, Willeke, Roxburgh, Richard, Erichsen, Anne Kjersti, Tallaksen, Chantal, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Rouco Axpe, Idoia, Elsayed, Liena, Paucar, Martin Arce, Roumani, Samir, Bing-Wen, Soong, Reid, Evan, Suran, Nethisinghe, Warner, Thomas, and Wood, Nicholas

Published
2020
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12. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Author

Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andrea, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Iné, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thoma, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, Mcconville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, Jame, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’Di, Qai, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa, Schaefer, Andrew, Schenone, Angelo, Scriba, Carolin, Shaw, Joseph, Silvestri, Gabriella, Stevens, Jame, Strupp, Michael, Sumner, Charlotte J, Szymura, Agnieszka, Tagliapietra, Matteo, Tassorelli, Cristina, Tessa, Alessandra, Theaudin, Marie, Tomaselli, Pedro, Tozza, Stefano, Tucci, Arianna, Valente, Enza Maria, Versino, Maurizio, Walsh, Richard A, Wood, Nick W, Yau, Way Yan, Zuchner, Stephan, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, Jame, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthi, Stojkovic, Tanya, Hadjivassiliou, Mario, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, Null, Null, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andrea, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Iné, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thoma, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, Mcconville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, Jame, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’Di, Qai, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa, Schaefer, Andrew, Schenone, Angelo, Scriba, Carolin, Shaw, Joseph, Silvestri, Gabriella, Stevens, Jame, Strupp, Michael, Sumner, Charlotte J, Szymura, Agnieszka, Tagliapietra, Matteo, Tassorelli, Cristina, Tessa, Alessandra, Theaudin, Marie, Tomaselli, Pedro, Tozza, Stefano, Tucci, Arianna, Valente, Enza Maria, Versino, Maurizio, Walsh, Richard A, Wood, Nick W, Yau, Way Yan, Zuchner, Stephan, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, Jame, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthi, Stojkovic, Tanya, Hadjivassiliou, Mario, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, Null, Null, and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)

Abstract

RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson's coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-poisson regression model was used to analyse the relationship between phenotype and repeat size. We performed multi-variate linear regression to assess the association of the repeat size with the degree of cerebellar atrophy. Meiotic stability was assessed by Southern blotting on first-degree relatives of 27 probands. Finally, somatic instability was investigated by optical genome mapping on cerebellar and frontal cortex and unaffected peripheral tissue from four post-mortem cases. A larger repeat size of both smaller and larger allele was associated with an earlier age at neurological onset (smaller allele HR = 2.06, p < 0.001; larger allele HR = 1.53, p < 0.001) and with a higher hazard of developing disabling symptoms, such as dysarthria or dysphagia (smaller allele HR = 3.40, p < 0.001; larger allele HR = 1.71, p = 0.002) or loss of independent walking (smaller allele HR = 2.78, p < 0.001; larger allele HR = 1.60; p < 0.001) earlier in disease course. Patients with more complex phenotypes carried larger expansions (smaller allele: complex neuropathy RR = 1.30, p = 0.003; CANVAS RR = 1.34, p < 0.001; larger allele: complex neuropathy RR = 1.33, p = 0.008; CANVAS RR = 1.31, p = 0

Published
2024

14. Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis

Author

Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, and Brusco, Alfredo

Published
2018
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17. La Alfabetizaciones Múltiples como Dispositivo de Inclusión en la Universidad

Author

Castro Fox, Guillermina, Palmucci, Daniela, Zangla, Alicia, Orsi, Laura, Castro Fox, Guillermina, Palmucci, Daniela, Zangla, Alicia, and Orsi, Laura

Abstract

El presente proyecto aborda la alfabetización en la universidad para analizar un conjunto de prácticas comunicativas contextualizadas y generar propuestas de producción de significados como procesos inclusivos, asentados en el reconocimiento de la diversidad humana, social y cultural de los actores del mundo académico. Partiendo de un diagnóstico de debilidades en la comunicación académica y de la experiencia ganada en investigación y enseñanza de lecto-escritura especializada, nos situamos en una perspectiva de alfabetizaciones múltiples. Desde allí focalizamos los procesos de enculturación propios del ingreso a la universidad, el género discursivo como recurso situado entre texto y sociedad y el carácter multimodal de la comunicación. Nuestro objetivo último es articular una reflexión crítica sobre los géneros académicos con el desarrollo de propuestas interdisciplinares e inclusivas para trabajar en el aula.

Published
2023

19. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network

Author

Rossi, Salvatore, Rubegni, Anna, Riso, Vittorio, Barghigiani, Melissa, Bassi, Maria Teresa, Battini, Roberta, Bertini, Enrico, Cereda, Cristina, Cioffi, Ettore, Criscuolo, Chiara, Dal Fabbro, Beatrice, Dato, Clemente, D'Angelo, Maria Grazia, Di Muzio, Antonio, Diamanti, Luca, Dotti, Maria Teresa, Filla, Alessandro, Gioiosa, Valeria, Liguori, Rocco, Martinuzzi, Andrea, Massa, Roberto, Mignarri, Andrea, Moroni, Rossana, Musumeci, Olimpia, Nicita, Francesco, Orologio, Ilaria, Orsi, Laura, Pegoraro, Elena, Petrucci, Antonio, Plumari, Massimo, Ricca, Ivana, Rizzo, Giovanni, Romano, Silvia, Rumore, Roberto, Sampaolo, Simone, Scarlato, Marina, Seri, Marco, Stefan, Cristina, Straccia, Giulia, Tessa, Alessandra, Travaglini, Lorena, Trovato, Rosanna, Ulgheri, Lucia, Vazza, Giovanni, Orlacchio, Antonio, Silvestri, Gabriella, Santorelli, Filippo Maria, Melone, Mariarosa Anna Beatrice, Casali, Carlo, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Rossi, Salvatore, Rubegni, Anna, Riso, Vittorio, Barghigiani, Melissa, Bassi, Maria Teresa, Battini, Roberta, Bertini, Enrico, Cereda, Cristina, Cioffi, Ettore, Criscuolo, Chiara, Dal Fabbro, Beatrice, Dato, Clemente, D'Angelo, Maria Grazia, Di Muzio, Antonio, Diamanti, Luca, Dotti, Maria Teresa, Filla, Alessandro, Gioiosa, Valeria, Liguori, Rocco, Martinuzzi, Andrea, Massa, Roberto, Mignarri, Andrea, Moroni, Rossana, Musumeci, Olimpia, Nicita, Francesco, Orologio, Ilaria, Orsi, Laura, Pegoraro, Elena, Petrucci, Antonio, Plumari, Massimo, Ricca, Ivana, Rizzo, Giovanni, Romano, Silvia, Rumore, Roberto, Sampaolo, Simone, Scarlato, Marina, Seri, Marco, Stefan, Cristina, Straccia, Giulia, Tessa, Alessandra, Travaglini, Lorena, Trovato, Rosanna, Ulgheri, Lucia, Vazza, Giovanni, Orlacchio, Antonio, Silvestri, Gabriella, Santorelli, Filippo Maria, Melone, Mariarosa Anna Beatrice, Casali, Carlo, and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)

Abstract

Background and objectives: Hereditary spastic paraplegias (HSPs) are a group of inherited rare neurologic disorders characterized by length-dependent degeneration of the corticospinal tracts and dorsal columns, whose prominent clinical feature is represented by spastic gait. Spastic paraplegia type 4 (SPG4, SPAST-HSP) is the most common form. We present both clinical and molecular findings of a large cohort of patients, with the aim of (1) defining the clinical spectrum of SPAST-HSP in Italy; (2) describing their molecular features; and (3) assessing genotype-phenotype correlations to identify features associated with worse disability. Methods: A cross-sectional retrospective study with molecular and clinical data collected in an anonymized database was performed. Results: A total of 723 Italian patients with SPAST-HSP (58% men) from 316 families, with a median age at onset of 35 years, were included. Penetrance was 97.8%, with men showing higher Spastic Paraplegia Rating Scale (SPRS) scores (19.67 ± 12.58 vs 16.15 ± 12.61, p = 0.009). In 26.6% of patients with SPAST-HSP, we observed a complicated phenotype, mainly including intellectual disability (8%), polyneuropathy (6.7%), and cognitive decline (6.5%). Late-onset cases seemed to progress more rapidly, and patients with a longer disease course displayed a more severe neurologic disability, with higher SPATAX (3.61 ± 1.46 vs 2.71 ± 1.20, p < 0.001) and SPRS scores (22.63 ± 11.81 vs 12.40 ± 8.83, p < 0.001). Overall, 186 different variants in the SPAST gene were recorded, of which 48 were novel. Patients with SPAST-HSP harboring missense variants displayed intellectual disability (14.5% vs 4.4%, p < 0.001) more frequently, whereas patients with truncating variants presented more commonly cognitive decline (9.7% vs 2.6%, p = 0.001), cerebral atrophy (11.2% vs 3.4%, p = 0.003), lower limb spasticity (61.5% vs 44.5%), urinary symptoms (50.0% vs 31.3%, p < 0.001), and sensorimotor polyneuropathy (11.1% vs 1

Published
2022

21. Clinical and genetic features of a large cohort of Italian SPG4 patients from the D.A.I.S.Y. collaborative network

Author

Rossi, Salvatore, Santorelli, Filippo Maria, Silvestri, Gabriella, Riso, Vittorio, Moroni, Rossana, Ulgheri, Lucia, Cereda, Cristina, Diamanti, Luca, Plumari, Massimo, Fabbro, Beatrice Dal, Straccia, Giulia, Orologio, Ilaria, Dato, Clemente, Filla, Alessandro, Criscuolo, Chiara, Dotti, Maria Teresa, Mignarri, Andrea, Orsi, Laura, D'Angelo, Maria Grazia, Bassi, Maria Teresa, Martinuzzi, Andrea, Stefan, Cristina, Scarlato, Marina, Musumeci, Olimpia, Bertini, Enrico, Nicita, Francesco, Massa, Roberto, Liguori, Rocco, Rizzo, Giovanni, Seri, Marco, Romano, Silvia, Di Muzio, Antonio, Petrucci, Antonio, Vazza, Giovanni, Pegoraro, Elena, Orlacchio, Antonio, Melone, Mariarosa, and Casali, Carlo

Published
2021
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22. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4

Author

Rossi, Salvatore, primary, Rubegni, Anna, additional, Riso, Vittorio, additional, Barghigiani, Melissa, additional, Bassi, Maria Teresa, additional, Battini, Roberta, additional, Bertini, Enrico, additional, Cereda, Cristina, additional, Cioffi, Ettore, additional, Criscuolo, Chiara, additional, Dal Fabbro, Beatrice, additional, Dato, Clemente, additional, D'Angelo, Maria Grazia, additional, Di Muzio, Antonio, additional, Diamanti, Luca, additional, Dotti, Maria Teresa, additional, Filla, Alessandro, additional, Gioiosa, Valeria, additional, Liguori, Rocco, additional, Martinuzzi, Andrea, additional, Massa, Roberto, additional, Mignarri, Andrea, additional, Moroni, Rossana, additional, Musumeci, Olimpia, additional, Nicita, Francesco, additional, Orologio, Ilaria, additional, Orsi, Laura, additional, Pegoraro, Elena, additional, Petrucci, Antonio, additional, Plumari, Massimo, additional, Ricca, Ivana, additional, Rizzo, Giovanni, additional, Romano, Silvia, additional, Rumore, Roberto, additional, Sampaolo, Simone, additional, Scarlato, Marina, additional, Seri, Marco, additional, Stefan, Cristina, additional, Straccia, Giulia, additional, Tessa, Alessandra, additional, Travaglini, Lorena, additional, Trovato, Rosanna, additional, Ulgheri, Lucia, additional, Vazza, Giovanni, additional, Orlacchio, Antonio, additional, Silvestri, Gabriella, additional, Santorelli, Filippo Maria, additional, Melone, Mariarosa Anna Beatrice, additional, and Casali, Carlo, additional

Published
2022
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23. Pensar las prácticas. Entre la investigación y la extensión universitaria. Una experiencia con migrantes y descendientes de migrantes en una escuela primaria para adultos

Author

Orsi, Laura, Ivars, María Jorgelina, Ulloa, Sandro Emanuel, Canoni, Juan, Turpaud Barnes, Helen, Hernández, Graciela Beatriz, Bertoni, María Belén, and Méndez, Laura Marcela

Subjects
Alimentos, Inmigración, Educación de Adultos, Personas Migrantes, Feminismos, Religión, Migrantes bolivianas, Alfabetización
Abstract

El libro, cuya lectura iniciamos, nos propone —como su título lo indica— repensar las prácticas en el entramado que surge entre los procesos investigativos y las actividades de extensión de la Universidad Nacional del Sur. Las palabras que se recogen para construir un nuevo lenguaje suce-dieron, principalmente, en los Talleres de Historia, Memoria y Producción de Textos que se reali-zaron en una escuela primaria de adultos de la localidad de Hilario Ascasubi, partido de Villarino, provincia de Buenos Aires. A esa escuela concurren adultos y adultas, en su mayoría migrantes o hijos/as de migrantes, cuyas historias y vidas son el centro de esta conversación escrita. Si bien este libro narra trayectorias e historias particulares, en especial de mujeres migrantes bolivianas pobres en las últimas tres décadas, también arroja luz a un proceso migratorio pro-veniente de Bolivia en el sudoeste bonaerense de larga duración, preexistente al proceso de for-mación del Estado nacional argentino. Esta migración, cada vez más numerosa y más femenina, trajo aparejados procesos de discriminación, estigmatización y xenofobia. (Parte del prólogo de la Dra. Laura Marcela Méndez -CONICET/UNCO) Fil: Ulloa, Sandro Emanuel. Universidad Nacional del Sur. Departamento de Humanidades; Argentina. Fil: Méndez, Laura Marcela. Universidad Nacional del Comahue; Argentina. Fil: Turpaud Barnes, Helen. Universidad Nacional del Sur; Argentina. Fil: Canoni, Juan. Universidad Nacional del Sur; Argentina. Fil: Ivars, María Jorgelina. Universidad Nacional del Sur. Departamento de Humanidades; Argentina. Fil: Orsi, Laura. Universidad Nacional del Sur. Departamento de Humanidades; Argentina. Fil: Bertoni, María Belén. Universidad Nacional del Sur. Departamento de Humanidades; Argentina. Fil: Hernández, Graciela Beatriz. Universidad Nacional del Sur. Departamento de Humanidades; Argentina.

Published
2021

25. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Author

Roux, Thomas, primary, Barbier, Mathieu, additional, Papin, Mélanie, additional, Davoine, Claire-Sophie, additional, Sayah, Sabrina, additional, Coarelli, Giulia, additional, Charles, Perrine, additional, Marelli, Cecilia, additional, Parodi, Livia, additional, Tranchant, Christine, additional, Goizet, Cyril, additional, Klebe, Stephan, additional, Lohmann, Ebba, additional, Van Maldergem, Lionel, additional, van Broeckhoven, Christine, additional, Coutelier, Marie, additional, Tesson, Christelle, additional, Stevanin, Giovanni, additional, Duyckaerts, Charles, additional, Brice, Alexis, additional, Durr, Alexandra, additional, Darios, Frédéric, additional, Forlani, Sylvie, additional, Site, Pitié-Salpêtrière, additional, Banneau, Guillaume, additional, Cazeneuve, Cécile, additional, Fontaine, Bertrand, additional, Azulay, Jean-Philippe, additional, Boesfplug-Tanguy, Odile, additional, Hannequin, Didier, additional, Hazan, Jamilé, additional, Burgo, Andrea, additional, Verny, Christophe, additional, Koenig, Michel, additional, Labauge, Pierre, additional, N’guyen, Karine, additional, Rodriguez, Diana, additional, Belarbi, Soraya, additional, Hamri, Abdelmadjid, additional, Tazir, Meriem, additional, Boesch, Sylvia, additional, Pandolfo, Massimo, additional, Laura, Jardim, additional, Guergueltcheva, Velina, additional, Tournev, Ivalo, additional, Pedraza Linarès, Olga Lucia, additional, Nielsen, Jørgen E., additional, Svenstrup, Kirsten, additional, Zaki, Maha, additional, Bauer, Peter, additional, Schöls, Lüdger, additional, Schüle, Rebecca, additional, Lossos, Alexander, additional, Bassi, Maria-Teresa, additional, Basso, Manuela, additional, Bertini, Enrico, additional, Brusco, Alfredo, additional, Casali, Carlo, additional, Casari, Giorgio, additional, Criscuolo, Chiara, additional, Filla, Alessandro, additional, Orsi, Laura, additional, Santorelli, Filippo M., additional, Valente, Enza Maria, additional, Vavla, Marinela, additional, Vazza, Giovanni, additional, Megarbane, André, additional, Benomar, Ali, additional, Kremer, Berry, additional, Van Roon-Mom, Willeke, additional, Roxburgh, Richard, additional, Erichsen, Anne Kjersti, additional, Tallaksen, Chantal, additional, Alonso, Isabel, additional, Coutinho, Paula, additional, Loureiro, José Léal, additional, Sequeiros, Jorge, additional, Salih, Mustapha, additional, Kostic, Vladimir S, additional, Rouco Axpe, Idoia, additional, Elsayed, Liena, additional, Paucar, Martin Arce, additional, Roumani, Samir, additional, Bing-Wen, Soong, additional, Reid, Evan, additional, Suran, Nethisinghe, additional, Warner, Thomas, additional, and Wood, Nicholas, additional

Published
2021
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30. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Author

Tezenas du Montcel, Sophie, Durr, Alexandra, Bauer, Peter, Figueroa, Karla P., Ichikawa, Yaeko, Brussino, Alessandro, Forlani, Sylvie, Rakowicz, Maria, Schöls, Ludger, Mariotti, Caterina, van de Warrenburg, Bart P.C., Orsi, Laura, Giunti, Paola, Filla, Alessandro, Szymanski, Sandra, Klockgether, Thomas, Berciano, José, Pandolfo, Massimo, Boesch, Sylvia, Melegh, Bela, Timmann, Dagmar, Mandich, Paola, Camuzat, Agnès, Goto, Jun, Ashizawa, Tetsuo, Cazeneuve, Cécile, Tsuji, Shoji, Pulst, Stefan-M., Brusco, Alfredo, Riess, Olaf, Brice, Alexis, and Stevanin, Giovanni

Published
2014
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31. Seven Mathematical Models of Hemorrhagic Shock

Author

Curcio, Luciano, D'Orsi, Laura, and De Gaetano, Andrea

Subjects
Article Subject
Abstract

Although mathematical modelling of pressure-flow dynamics in the cardiocirculatory system has a lengthy history, readily finding the appropriate model for the experimental situation at hand is often a challenge in and of itself. An ideal model would be relatively easy to use and reliable, besides being ethically acceptable. Furthermore, it would address the pathogenic features of the cardiovascular disease that one seeks to investigate. No universally valid model has been identified, even though a host of models have been developed. The object of this review is to describe several of the most relevant mathematical models of the cardiovascular system: the physiological features of circulatory dynamics are explained, and their mathematical formulations are compared. The focus is on the whole-body scale mathematical models that portray the subject’s responses to hypovolemic shock. The models contained in this review differ from one another, both in the mathematical methodology adopted and in the physiological or pathological aspects described. Each model, in fact, mimics different aspects of cardiocirculatory physiology and pathophysiology to varying degrees: some of these models are geared to better understand the mechanisms of vascular hemodynamics, whereas others focus more on disease states so as to develop therapeutic standards of care or to test novel approaches. We will elucidate key issues involved in the modeling of cardiovascular system and its control by reviewing seven of these models developed to address these specific purposes.

Published
2021
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38. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

Author

Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, De Broucker, Thomas, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexis, Singleton, Andrew, Durr, Alexandra, Belarabi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Ullmann, Urielle, Jardim, Laura, Guergueltcheva, Velina, Tournev, Ivalo, Soong, Bing-Wen, Linarès, Olga Lucia Pedraza, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Azulay, Jean-Philippe, Banneau, Guillaume, Boesfplug-Tanguy, Odile, Burgo, Andrea, Cazeneuve, Cécile, Darios, Frédéric, Depienne, Christel, Duyckaerts, Charles, Fontaine, Bertrand, Hazan, Jamilé, Koenig, Michel, Marelli, Cecilia, N'Guyen, Karine, Rodriguez, Diana, Sittler, Annie, Verny, Christophe, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Koutsis, Georgios, Lossos, Alexander, Antenora, Antonella, Bassi, Maria Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Lieto, Maria, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Roxburgh, Richard, Erichsen, Anne Kjersti, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Axpe, Idoia Rouco, Roumani, Samir, Kremer, Berry, Van Roon-Mom, Willeke, Boukhris, Amir, Mhiri, Chokri, Karabay, Arzu, Nethisinghe, Suran, Okane, Cahir, Oliva, Megan, Reid, Evan, Warner, Thomas, Wood, Nicholas, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Université de Montpellier (UM), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of New Haven [Connecticut], Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, CHU Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), CHU Toulouse [Toulouse], Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Hôpital de la Croix-Rousse [CHU - HCL], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Filière Neuromusculaire (FILNEMUS), UCL - SSS/DDUV/GEHU - Génétique, Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, De Broucker, Thoma, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexi, Singleton, Andrew, Durr, Alexandra, Belarabi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Ullmann, Urielle, Jardim, Laura, Guergueltcheva, Velina, Tournev, Ivalo, Soong, Bing-Wen, Linarès, Olga Lucia Pedraza, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Azulay, Jean-Philippe, Banneau, Guillaume, Boesfplug-Tanguy, Odile, Burgo, Andrea, Cazeneuve, Cécile, Darios, Frédéric, Depienne, Christel, Duyckaerts, Charle, Fontaine, Bertrand, Hazan, Jamilé, Koenig, Michel, Marelli, Cecilia, N'Guyen, Karine, Rodriguez, Diana, Sittler, Annie, Verny, Christophe, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Koutsis, Georgio, Lossos, Alexander, Antenora, Antonella, Bassi, Maria Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Lieto, Maria, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Roxburgh, Richard, Erichsen, Anne Kjersti, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Axpe, Idoia Rouco, Roumani, Samir, Kremer, Berry, Van Roon-Mom, Willeke, Boukhris, Amir, Mhiri, Chokri, Karabay, Arzu, Nethisinghe, Suran, Okane, Cahir, Oliva, Megan, Reid, Evan, Warner, Thoma, Wood, Nicholas, École Pratique des Hautes Études (EPHE), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (ISC-MJ), and Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)

Subjects
0301 basic medicine, Male, Candidate gene, [SDV]Life Sciences [q-bio], ataxia, exome sequencing, disease genes, spastic ataxia, oculomotor apraxia, Gene mutation, Whole Exome Sequencing, Cohort Studies, disease genes, 0302 clinical medicine, Oculomotor apraxia, Exome, Exome sequencing, Heat-Shock Proteins, Original Investigation, oculomotor apraxia, Nuclear Proteins, Metalloendopeptidases, Middle Aged, 3. Good health, Phenotype, Female, medicine.symptom, RNA Helicases, Adult, medicine.medical_specialty, Ataxia, Adolescent, Cerebellar Ataxia, Nerve Tissue Proteins, Consanguinity, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Cerebellar ataxia, business.industry, ataxia, DNA Helicases, Computational Biology, medicine.disease, Multifunctional Enzymes, Cytoskeletal Proteins, spastic ataxia, 030104 developmental biology, Mutation, ATPases Associated with Diverse Cellular Activities, Calcium Channels, Neurology (clinical), business, exome sequencing, 030217 neurology & neurosurgery
Abstract

International audience; Importance: Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion. Objectives: To assess the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to CA in a large cohort of undiagnosed patients and to investigate their prevalence. Design, Setting, and Participants: Three hundred nineteen index patients with CA and without a history of dominant transmission were included in the this cohort study by the Spastic Paraplegia and Ataxia Network. Centralized storage was in the DNA and cell bank of the Brain and Spine Institute, Salpetriere Hospital, Paris, France. Patients were classified into 6 clinical groups, with the largest being those with spastic ataxia (ie, CA with pyramidal signs [n = 100]). Sequencing was performed from January 1, 2014, through December 31, 2016. Detected variants were classified as very probably or definitely causative, possibly causative, or of unknown significance based on genetic evidence and genotype-phenotype considerations. Main Outcomes and Measures: Identification of variants in genes broadly linked to CA, classified in pathogenicity groups. Results: The 319 included patients had equal sex distribution (160 female [50.2%] and 159 male patients [49.8%]; mean [SD] age at onset, 27.9 [18.6] years). The age at onset was younger than 25 years for 131 of 298 patients (44.0%) with complete clinical information. Consanguinity was present in 101 of 298 (33.9%). Very probable or definite diagnoses were achieved for 72 patients (22.6%), with an additional 19 (6.0%) harboring possibly pathogenic variants. The most frequently mutated genes were SPG7 (n = 14), SACS (n = 8), SETX (n = 7), SYNE1 (n = 6), and CACNA1A (n = 6). The highest diagnostic rate was obtained for patients with an autosomal recessive CA with oculomotor apraxia-like phenotype (6 of 17 [35.3%]) or spastic ataxia (35 of 100 [35.0%]) and patients with onset before 25 years of age (41 of 131 [31.3%]). Peculiar phenotypes were reported for patients carrying KCND3 or ERCC5 variants. Conclusions and Relevance: Exome capture followed by targeted analysis allows the molecular diagnosis in patients with highly heterogeneous mendelian disorders, such as CA, without prior assumption of the inheritance mode or causative gene. Being commonly available without specific design need, this procedure allows testing of a broader range of genes, consequently describing less classic phenotype-genotype correlations, and post hoc reanalysis of data as new genes are implicated in the disease.

Published
2018
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39. SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

Author

Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, Brusco, Alfredo, Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, and Brusco, Alfredo

Subjects
ataxia, method, sca
Abstract

Spinocerebellar ataxias (SCA) type 1, 2, 3, 6, and 7, associated with a (CAG)n repeat expansion in coding sequences, are the most prevalent autosomal dominant ataxias worldwide (approximately 60% of the cases). In addition, the phenotype of SCA2 expansions has been now extended to Parkinson's disease and amyotrophic lateral sclerosis. Their diagnosis is presently based on a PCR to identify small expanded alleles, followed by a second-level test whenever the suspect of false normal homozygous, or a CAT interruption in SCA1 needs to be verified. Next-generation sequencing still does not allow efficient detection of these repeats. Here, we show the efficacy of a novel, rapid, and cost-effective method to identify and size pathogenic expansions in SCA1-3, 6, and 7 and recognize large alleles or interruptions without a second-level test. Twenty-five healthy controls and 33 expansion carriers were analyzed: alleles migrated consistently in different PCRs/capillary runs, and homozygous subjects were always distinguishable from heterozygous carriers of both common and large (>100 repeats) pathogenic CAG expansions. Repeat number could be calculated counting the number of peaks, except for the largest SCA2 and SCA7 alleles. Interruptions in SCA1 were always visible. Overall, our method allows a simpler, cost-effective, and sensibly faster SCA diagnostic protocol compared to the standard technique and to the still unadapted next-generation sequencing.

Published
2018

41. mathematical model of cardiovascular dynamics for the diagnosis and prognosis of hemorrhagic shock.

Author

D'Orsi, Laura, Curcio, Luciano, Cibella, Fabio, Borri, Alessandro, Gavish, Lilach, Eisenkraft, Arik, and Gaetano, Andrea De

Subjects
*HEMORRHAGIC shock, *PROGNOSIS, *DIAGNOSIS, *MATHEMATICAL models, *CARDIAC output
Abstract

A variety of mathematical models of the cardiovascular system have been suggested over several years in order to describe the time-course of a series of physiological variables (i.e. heart rate, cardiac output, arterial pressure) relevant for the compensation mechanisms to perturbations, such as severe haemorrhage. The current study provides a simple but realistic mathematical description of cardiovascular dynamics that may be useful in the assessment and prognosis of hemorrhagic shock. The present work proposes a first version of a differential-algebraic equations model, the model dynamical ODE model for haemorrhage (dODEg). The model consists of 10 differential and 14 algebraic equations, incorporating 61 model parameters. This model is capable of replicating the changes in heart rate, mean arterial pressure and cardiac output after the onset of bleeding observed in four experimental animal preparations and fits well to the experimental data. By predicting the time-course of the physiological response after haemorrhage, the dODEg model presented here may be of significant value for the quantitative assessment of conventional or novel therapeutic regimens. The model may be applied to the prediction of survivability and to the determination of the urgency of evacuation towards definitive surgical treatment in the operational setting. [ABSTRACT FROM AUTHOR]

Published
2021
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42. The largest caucasian kindred with dentatorubral‐pallidoluysian atrophy: A founder mutation in italy

Author

Grimaldi, Silvia, primary, Cupidi, Chiara, additional, Smirne, Nicoletta, additional, Bernardi, Livia, additional, Giacalone, Fabio, additional, Piccione, Giuseppina, additional, Basiricò, Salvatore, additional, Mangano, Giuseppe Donato, additional, Nardello, Rosaria, additional, Orsi, Laura, additional, Grosso, Enrico, additional, Laganà, Valentina, additional, Mitolo, Micaela, additional, Maletta, Raffaele Giovanni, additional, and Bruni, Amalia Cecilia, additional

Published
2019
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44. Las migraciones desde Chile y Bolivia a Bahía Blanca. Delimitar un campo e identificar las prácticas en la historia oral (2007-2013)

Author

Hernández, Graciela, Bertoni, Belén, Canoni, Juan, Fernández, Bruno, and Orsi, Laura

Subjects
Ethnic Studies, migrations, cultural studies, fronteras, migraciones, JHMC, borders, interculturality, prácticas sociales, migration, interculturalidad, frontière, estudios culturales, pratiques sociales, Patagonia, JFFN, études culturelles, interculturalité, Patagonie, Sociology & Anthropology, social practices, SOC002010, SOC007000
Abstract

Introducción El presente trabajo tiene como objetivo realizar la historia de los procesos migratorios desde países limítrofes (en este caso desde Chile y Bolivia) a Bahía Blanca, una ciudad ubicada en las puertas de la Patagonia argentina. Tales flujos han sido y continúan siendo estigmatizados. El tema que abordamos, con sus genealogías difusas y difíciles de encuadrar, en los pares argentino/ extranjero, indio/blanco, negro/blanco, queda excluido del relato oficial de la constitución del Es...

Published
2018

45. ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia

Author

Rubino, Elisa, primary, Mancini, Cecilia, additional, Boschi, Silvia, additional, Ferrero, Patrizia, additional, Ferrone, Marina, additional, Bianca, Stefano, additional, Zucca, Milena, additional, Orsi, Laura, additional, Pinessi, Lorenzo, additional, Govone, Flora, additional, Vacca, Alessandro, additional, Gai, Annalisa, additional, Giordana, Maria Teresa, additional, Brusco, Alfredo, additional, and Rainero, Innocenzo, additional

Published
2019
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48. Chemotherapy effects on brain glucose metabolism at rest

Author

Baudino, Bruno, D’Agata, Federico, Castellano, Giancarlo, Caroppo, Paola, Cauda, Simona, Parente, Antonella, Manfredi, Matteo, Geda, Elisabetta, Orsi, Laura, Cauda, Franco, Castelli, Lorys, Sacco, Katiuscia, Ardito, Rita, Torta, Riccardo, and Bisi, Gianni

Published
2011
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49. Modelling the ventilator-patient interaction: a pressure-cycled control strategy

Author

D'Orsi Laura, Borri Alessandro, and De Gaetano Andrea

Subjects
healthcare and medical systems, modeling, control applications
Abstract

In the last few years, mathematical models of lung ventilation have often been used to support the Anesthesiologists and Resuscitators choices in the mechanical ventilator parameters setting. In this context, a real-time control strategy is doubtless crucial to avoid the occurrence of induced pressurederived trauma. In the present work, we develop a first version of a simple but realistic physiological lung ventilation mathematical model. The patient-ventilator complex is taken into account by modeling the pressure wave provided by the mechanical lung ventilator as an external (control) input. With the aim of reaching the correct amplitude for the pressure wave at the mouth provided by the mechanical ventilator, hence limiting the risk of Acute Respiratory Distress Syndrome (ARDS), we consider two different scenarios: the patient who needs to be ventilated as a consequence of having an insufficient respiratory drift (assisted ventilation) and the patient without a spontaneous breathing (controlled ventilation). An output-feedback control law is proposed, based on the flow measurements provided by the ventilator, and not exploiting the full knowledge of the model equations and parameters. The considered approach looks promising, since a preliminary in-silico validation of the resulting patient-ventilator system shows that the target value of the tidal volume is readily tracked in both scenarios, without dangerous oscillations and with limited control effort.

Published
2017

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