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11. Italian Economics and Fascism: An Institutional View

Author

Augello, Massimo M., Guidi, Marco E. L., Bientinesi, Fabrizio, Cohen, Avi J., Series Editor, Harcourt, G.C., Series Editor, Kriesler, Peter, Series Editor, Toporowski, Jan, Series Editor, Augello, Massimo M., editor, Guidi, Marco E.L., editor, and Bientinesi, Fabrizio, editor

Published
2019
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15. Contributing Authors

Author

Abe, Yukio, primary, Aita, Márcio Aurélio, additional, Perez Alba, Jose Manuel, additional, Axelrod, Daniel, additional, Axelsson, Peter, additional, Bauer, Thomas, additional, Bell, Katrina R., additional, Bessems, J.H.J.M., additional, Bhandari, Mohit, additional, Blackburn, Julia, additional, Blokhuis, Taco J., additional, Boeckstyns, Michel E.H., additional, Bouyer, Michael, additional, Carratalá Baixauli, Vicente, additional, Calcagni, Maurizio, additional, Chan, Andrea, additional, Chantelot, Christophe, additional, Chiche, Léo, additional, Chung, Kevin C., additional, Colaris, Joost W., additional, Corella Montoya, Fernando, additional, Davis, Elissa S., additional, Piñal, Francisco del, additional, Dias, Joseph, additional, Doornberg, Job N., additional, Drijfhout van Hooff, C.C., additional, Duckworth, Andrew D., additional, Ehlinger, Matthieu, additional, Esposito, K.R., additional, Facca, Sybille, additional, Farnebo, Simon, additional, Fredrikson, Per, additional, Freibott, C.E., additional, Gómez, Ignacio Miranda, additional, Gouzou, Stéphanie, additional, Grewal, Ruby, additional, Guidi, Marco, additional, Hannemann, Pascal F.W., additional, Harper, Carl M., additional, Haynes, Sara F., additional, Jaarsma, R.L., additional, Johal, Herman, additional, Johnson, Nick, additional, Jung, Hyoung-Seok, additional, Kadar, Assaf, additional, Kim, Jong Pil, additional, Koehler, Steven M., additional, Laane, C.L.E., additional, Lafosse, Thibault, additional, Lee, Hyun Il, additional, Lee, Jae-Sung, additional, Lindau, Tommy R., additional, Lindqvist, Sandra, additional, Liverneaux, Philippe, additional, Loisel, François, additional, Lucas García, Francisco J., additional, Luchetti, Riccardo, additional, Meaike, Jesse D., additional, Meaike, Joshua J., additional, Medoff, Robert J., additional, Michielsen, Maartje, additional, Miller, Andrew, additional, Molyneux, Samuel G., additional, Obert, Laurent, additional, Osterman, A. Lee, additional, Paul, Ryan, additional, Pientka, William F., additional, Ploegmakers, J.J.W., additional, Pocnetz, Sasa, additional, Poublon, A.R., additional, Ring, D., additional, Rozental, Tamara, additional, Saab, Marc, additional, Saka, Natsumi, additional, Sandow, Michael J., additional, Schep, Niels W.L., additional, Schoolmeesters, B.J.A., additional, Shin, Alexander Y., additional, Shoap, S.C., additional, Sims, Laura, additional, Strauch, R.J., additional, Strelzow, Jason A., additional, Suh, Nina, additional, Takahashi, Youhei, additional, Tang, Jin Bo, additional, Ten Bosch, Jan A., additional, The, B., additional, Tosti, Rick, additional, van der Windt, A.E., additional, Vanhees, Matthias, additional, Vernet, Paul, additional, Verstreken, Frederik, additional, White, Timothy O., additional, Wijffels, M.M.E., additional, Woolnough, Taylor, additional, Xiong, Grace, additional, Zenke, Yukichi, additional, and Zhang, Yiyang, additional

Published
2021
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17. LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

Author

Bonifati, Vincenzo, Quadri, Marialuisa, Mandemakers, Wim, Kievit, Anneke J.A., Boon, Agnita J.W., Rood, Janneke P.A, Vergouw, Leonie J.M., de Jong, Frank J., van Swieten, John C., Mattace-Raso, Francesco U.S., Leenders, Klaus L., Ferreira, Joaquim J., Correia Guedes, Leonor, Puschmann, Andreas, Ygland, Emil, Nilsson, Christer, Chien, Hsin F., Barbosa, Egberto, Bannach Jardim, Laura, Rieder, Carlos R.M., Chang, Hsiu-Chen, Lu, Chin-Song, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Lopiano, Leonardo, Tassorelli, Cristina, Pacchetti, Claudio, Riboldazzi, Giulio, Bono, Giorgio, Comi, Cristoforo, Padovani, Alessandro, Borroni, Barbara, Raudino, Francesco, Fincati, Emiliana, Tinazzi, Michele, Bonizzato, Alberto, Ferracci, Carlo, Dalla Libera, Alessio, Abbruzzese, Giovanni, Cortelli, Pietro, Capellari, Sabina, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabrizio, Edito, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Vacca, Laura, Barone, Paolo, Picillo, Marina, De Michele, Giuseppe, Criscuolo, Chiara, De Mari, Michele, Dell'Aquila, Claudia, Iliceto, Gianni, Toni, Vincenzo, Trianni, Giorgio, Gagliardi, Monica, Annesi, Grazia, Quattrone, Aldo, Saddi, Valeria, Cossu, Gianni, Melis, Maurizio, Grochowska, Martyna M, Masius, Roy, Geut, Hanneke, Breedveld, Guido J, Kuipers, Demy, Minneboo, Michelle, Vergouw, Leonie J M, Carreras Mascaro, Ana, Yonova-Doing, Ekaterina, Simons, Erik, Zhao, Tianna, Di Fonzo, Alessio B, Parchi, Piero, Melis, Marta, Brouwer, Rutger W W, Heijsman, Daphne, Ingrassia, Angela M T, Calandra Buonaura, Giovanna, Rood, Janneke P, Rozemuller, Annemieke J, Sarchioto, Marianna, Fen Chien, Hsin, Olgiati, Simone, Boon, Agnita J W, Hoogers, Susanne E, Ghazvini, Mehrnaz, IJpma, Arne S, van IJcken, Wilfred F J, Nicholl, David J, Kievit, Anneke J, Majoor-Krakauer, Danielle, van Swieten, John C, de Jong, Frank J, Ferreira, Joaquim J, Cossu, Giovanni, and van de Berg, Wilma D J

Published
2018
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18. PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Author

Fevga, Christina, Tesson, Christelle, Carreras Mascaro, Ana, Courtin, Thomas, Van Coller, Riaan, Sakka, Salma, Ferraro, Federico, Farhat, Nouha, Bardien, Soraya, Damak, Mariem, Carr, Jonathan, Ferrien, Melanie, Boumeester, Valerie, Hundscheid, Jasmijn, Grillenzoni, Nicola, Kessissoglou, Irini A., Kuipers, Demy J.S., Quadri, Marialuisa, Agid, Yves, Anheim, Mathieu, Borg, Michel, Brice, Alexis, Broussolle, Emmanuel, Corvol, Jean Christophe, Damier, Philippe, Defebvre, Luc, Dürr, Alexandra, Durif, Franck, Houeto, Jean Luc, Krack, Paul, Klebe, Stephan, Lesage, Suzanne, Lohmann, Ebba, Martinez, Maria, Mangone, Graziella, Mariani, Louise Laure, Pollak, Pierre, Rascol, Olivier, Tison, François, Tranchant, Christine, Verin, Marc, Viallet, François, Vidailhet, Marie, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Lu, Bedia Marangozog, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouchetara, Sofiane A., Benhassine, Traki, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Romdhan, Sawssan Ben, Mhiri, Chokri, Bouhouche, Ahmed, Bonifati, Vincenzo, Mandemakers, Wim, Kievit, Anneke J.A., Boon, Agnita J.W., Ferreira, Joaquim J., Guedes, Leonor Correia, Hanagasi, Hasmet A., Tufekcioglu, Zeynep, Elibol, Bulent, Dog.u, Okan, Gultekin, Murat, Chien, Hsin F., Barbosa, Egberto, Jardim, Laura Bannach, Rieder, Carlos R.M., Chang, Hsiu Chen, Lu, Chin Song, Wu-Chou, Yah Huei, Yeh, Tu Hsueh, Lopiano, Leonardo, Tassorelli, Cristina, Pacchetti, Claudio, Comi, Cristoforo, Raudino, Francesco, Bertolasi, Laura, Tinazzi, Michele, Bonizzato, Alberto, Ferracci, Carlo, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabrizio, Edito, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Vacca, Laura, Barone, Paolo, Picillo, Marina, De Michele, Giuseppe, Criscuolo, Chiara, De Mari, Michele, Dell'aquila, Claudia, Iliceto, Giovanni, Toni, Vincenzo, Trianni, Giorgio, Saddi, Valeria, Cossu, Gianni, Melis, Maurizio, Hassan, Bassem A., Breedveld, Guido J., Erasmus University Medical Center [Rotterdam] (Erasmus MC), 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), Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Faculty of Health Sciences [Pretoria], University of Pretoria [South Africa], Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Stellenbosch University, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Motivation, cerveau et comportement = Motivation, Brain and Behavior [ICM Paris] (MBB), 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)-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], Tesson, Christelle, Clinical Genetics, and Neurology

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, intellectual disability, PTPA, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], PPP2R4, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, parkinsonism, PP2A
Abstract

The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification of variants in the PTPA/PPP2R4 gene, encoding a major PP2A activator, in two families with early-onset parkinsonism and intellectual disability. We carried out clinical studies and genetic analyses, including genome-wide linkage analysis, whole-exome sequencing, and Sanger sequencing of candidate variants. We next performed functional studies on the disease-associated variants in cultured cells and knock-down of ptpa in Drosophila melanogaster. We first identified a homozygous PTPA variant, c.893T>G (p.Met298Arg), in patients from a South African family with early-onset parkinsonism and intellectual disability. Screening of a large series of additional families yielded a second homozygous variant, c.512C>A (p.Ala171Asp), in a Libyan family with a similar phenotype. Both variants co-segregate with disease in the respective families. The affected subjects display juvenile-onset parkinsonism and intellectual disability. The motor symptoms were responsive to treatment with levodopa and deep brain stimulation of the subthalamic nucleus. In overexpression studies, both the PTPA p.Ala171Asp and p.Met298Arg variants were associated with decreased PTPA RNA stability and decreased PTPA protein levels; the p.Ala171Asp variant additionally displayed decreased PTPA protein stability. Crucially, expression of both variants was associated with decreased PP2A complex levels and impaired PP2A phosphatase activation. PTPA orthologue knock-down in Drosophila neurons induced a significant impairment of locomotion in the climbing test. This defect was age-dependent and fully reversed by L-DOPA treatment. We conclude that bi-allelic missense PTPA variants associated with impaired activation of the PP2A phosphatase cause autosomal recessive early-onset parkinsonism with intellectual disability. Our findings might also provide new insights for understanding the role of the PP2A complex in the pathogenesis of more common forms of neurodegeneration.

Published
2023
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24. How to measure success in lower extremity reconstruction, which outcome measurements do we use a systematic review and metanalysis

Author

Besmens, Inga S; https://orcid.org/0000-0002-3821-7163, Zoller, Florence E, Guidi, Marco; https://orcid.org/0000-0002-4005-0331, Giovanoli, Pietro, Calcagni, Maurizio; https://orcid.org/0000-0003-4372-0561, Besmens, Inga S; https://orcid.org/0000-0002-3821-7163, Zoller, Florence E, Guidi, Marco; https://orcid.org/0000-0002-4005-0331, Giovanoli, Pietro, and Calcagni, Maurizio; https://orcid.org/0000-0003-4372-0561

Abstract

Different factors have to be considered and weighted in the treatment algorithm of lower extremity reconstruction. A combination of both clinicians' and patients' perspectives is necessary to provide a conclusive picture. Currently, there aren't any standardized and validated measurement data sets for lower extremity reconstructions. This makes it necessary to identify the relevant domains. We, therefore, performed a systematic review and metanalysis of outcome measurements and evaluated their ability to measure outcomes after lower extremity reconstruction. A systematic review and metanalysis according to the 'Preferred Reporting Items for Systematic Reviews and Meta-Analyses' protocol were performed for studies reporting at least one structured outcome measurement of lower extremity reconstruction. Both Patient (PROMs)- and Clinician reported outcome measurements (CROMs)were analyzed. Of the 2827 identified articles, 102 were included in the final analysis. In total 86 outcome measurements were identified, 34 CROMs, 44 PROMs and 8 (9.3%) outcome measurements that have elements of both. Twenty-four measure functional outcome, 3 pain, 10 sensations and proprioception, 9 quality of life, 8 satisfaction with the result, 5 measure the aesthetic outcome, 6 contours and flap stability and 21 contain multidomain elements. A multitude of different outcome measurements is currently used in lower extremity reconstruction So far, no consensus has been reached on what to measure and how. Validation and standardization of both PROMs and CROMs in plastic surgery is needed to improve the outcome of our patients, better meet their needs and expectations and eventually optimize extremity reconstruction by enabling a direct comparison of studies' results.

Published
2023

25. Six-Strand Flexor Pollicis Longus Tendon Repairs With and Without Circumferential Sutures: A Multicenter Study

Author

Lautenbach, Géraldine; https://orcid.org/0000-0002-3962-3905, Guidi, Marco, Tobler-Ammann, Bernadette, Beckmann-Fries, Vera, Oberfeld, Elisabeth, Schrepfer, Lorena, Hediger, Sebastian, Kaempfen, Alexandre; https://orcid.org/0000-0002-7926-3502, Vögelin, Esther, Calcagni, Maurizio, Lautenbach, Géraldine; https://orcid.org/0000-0002-3962-3905, Guidi, Marco, Tobler-Ammann, Bernadette, Beckmann-Fries, Vera, Oberfeld, Elisabeth, Schrepfer, Lorena, Hediger, Sebastian, Kaempfen, Alexandre; https://orcid.org/0000-0002-7926-3502, Vögelin, Esther, and Calcagni, Maurizio

Abstract

BACKGROUND The purpose of this study is to assess outcomes in flexor pollicis longus tendon repairs with 6-strand core sutures with and without circumferential sutures. METHODS A 6-strand core suture technique with and without circumferential sutures was used. Thirty-three patients were summarized in the C group (circumferential group) and 16 patients in the NC group (non-circumferential group). After the surgery, the wrist was stabilized with a dorsal blocking splint and a controlled early active motion protocol was applied. At weeks 6, 13, and 26 data on demographics, type of injury, surgery, postoperative rehabilitation, complications such as re-rupture and the following outcome measurements were collected: range of motion and its recovery according to the Tang criteria, Kapandji score, thumb and hand strengths, Disabilities of the Arm, Shoulder and Hand score, and satisfaction. RESULTS There were no significant differences in range of motion and strength between the 2 treatment groups. In both groups, the outcome measurements increased over time and they expressed similar satisfaction with the surgical treatment. In 4 patients of the C group tendon repair ruptured and in 1 patient of the NC group. CONCLUSIONS Six-strand repair technique is an effective procedure to assure early active motion after flexor pollicis longus tendon injuries and good results can also be achieved by omitting the circumferential suture.

Published
2023

28. Distraction Arthroplasty for Basal Thumb Osteoarthritis: 10-Year Follow-Up

Author

Guidi, Marco, Bufalini, Carlo, Guzzini, Matteo, Koverech, Guido, Cenci, Giulia, Lucchina, Stefano, Kim, Bong Sung, Calcagni, Maurizio, Perugia, Dario, University of Zurich, and Guidi, Marco

Subjects
2732 Orthopedics and Sports Medicine, Orthopedics and Sports Medicine, Surgery, 610 Medicine & health, 10266 Clinic for Reconstructive Surgery, 2746 Surgery
Abstract

Trapeziectomy has frequently been used to treat basal thumb osteoarthritis. However, complications, such as shortening of the thumb ray and reduced mobility and strength, can occur. The aim of this study was to present a 10-year follow-up of distraction arthroplasty without trapeziectomy.Fifteen patients were followed for a mean of 121 months (range, 121-124 months). Subjective outcomes were evaluated with the Disabilities of the Arm, Shoulder, and Hand questionnaire, while the pain intensity was assessed with a Visual Analog Scale both before surgery and at the end of follow-up. Objective outcomes were obtained using the Kapandji score and an assessment of grip and pinch strength. Preoperative and final postoperative x-rays were obtained to evaluate metacarpal subsidence and progression of trapezial-metacarpal joint arthritis.The Visual Analog Scale score was reduced from 9.4 ± 0.5 before surgery to 2.5 ± 1 at follow-up. The mean Disabilities of the Arm, Shoulder, and Hand questionnaire score was 75.6 ± 12.6 before surgery and 16.9 ± 4 at 10 years. Hand grip strength of the operated side (26 ± 5.5 kg) achieved 95% of functionality compared to the opposite side, while key pinch strength (6.4 ± 1.6 kg) reached 93%. A Kapandji opposition score of 10 points was found in 12 patients, a score of 9 was found in 1, and a score of 8 was found in 2.Distraction arthroplasty of the trapeziometacarpal joint ensures good results in long-term follow-up, when performed in patients with stage I-II basal thumb osteoarthritis.Therapeutic IV.

Published
2022

30. JaCa-Android: An Agent-Based Platform for Building Smart Mobile Applications

Author

Santi, Andrea, Guidi, Marco, Ricci, Alessandro, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Sudan, Madhu, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Vardi, Moshe Y., Series editor, Weikum, Gerhard, Series editor, Goebel, Randy, editor, Siekmann, Jörg, editor, Wahlster, Wolfgang, editor, Dastani, Mehdi, editor, El Fallah Seghrouchni, Amal, editor, Hübner, Jomi, editor, and Leite, João, editor

Published
2011
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43. Distraction Arthroplasty for Basal Thumb Osteoarthritis: 10-Year Follow-Up.

Author

Guidi, Marco, Bufalini, Carlo, Guzzini, Matteo, Koverech, Guido, Cenci, Giulia, Lucchina, Stefano, Kim, Bong Sung, Calcagni, Maurizio, and Perugia, Dario

Abstract

Trapeziectomy has frequently been used to treat basal thumb osteoarthritis. However, complications, such as shortening of the thumb ray and reduced mobility and strength, can occur. The aim of this study was to present a 10-year follow-up of distraction arthroplasty without trapeziectomy. Fifteen patients were followed for a mean of 121 months (range, 121–124 months). Subjective outcomes were evaluated with the Disabilities of the Arm, Shoulder, and Hand questionnaire, while the pain intensity was assessed with a Visual Analog Scale both before surgery and at the end of follow-up. Objective outcomes were obtained using the Kapandji score and an assessment of grip and pinch strength. Preoperative and final postoperative x-rays were obtained to evaluate metacarpal subsidence and progression of trapezial-metacarpal joint arthritis. The Visual Analog Scale score was reduced from 9.4 ± 0.5 before surgery to 2.5 ± 1 at follow-up. The mean Disabilities of the Arm, Shoulder, and Hand questionnaire score was 75.6 ± 12.6 before surgery and 16.9 ± 4 at 10 years. Hand grip strength of the operated side (26 ± 5.5 kg) achieved 95% of functionality compared to the opposite side, while key pinch strength (6.4 ± 1.6 kg) reached 93%. A Kapandji opposition score of 10 points was found in 12 patients, a score of 9 was found in 1, and a score of 8 was found in 2. Distraction arthroplasty of the trapeziometacarpal joint ensures good results in long-term follow-up, when performed in patients with stage I–II basal thumb osteoarthritis. Therapeutic IV. [ABSTRACT FROM AUTHOR]

Published
2023
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44. Six-Strand Flexor Pollicis Longus Tendon Repairs With and Without Circumferential Sutures: A Multicenter Study.

Author

Lautenbach, Géraldine, Guidi, Marco, Tobler-Ammann, Bernadette, Beckmann-Fries, Vera, Oberfeld, Elisabeth, Schrepfer, Lorena, Hediger, Sebastian, Kaempfen, Alexandre, Vögelin, Esther, and Calcagni, Maurizio

Abstract

Background: The purpose of this study is to assess outcomes in flexor pollicis longus tendon repairs with 6-strand core sutures with and without circumferential sutures. Methods: A 6-strand core suture technique with and without circumferential sutures was used. Thirty-three patients were summarized in the C group (circumferential group) and 16 patients in the NC group (non-circumferential group). After the surgery, the wrist was stabilized with a dorsal blocking splint and a controlled early active motion protocol was applied. At weeks 6, 13, and 26 data on demographics, type of injury, surgery, postoperative rehabilitation, complications such as re-rupture and the following outcome measurements were collected: range of motion and its recovery according to the Tang criteria, Kapandji score, thumb and hand strengths, Disabilities of the Arm, Shoulder and Hand score, and satisfaction. Results: There were no significant differences in range of motion and strength between the 2 treatment groups. In both groups, the outcome measurements increased over time and they expressed similar satisfaction with the surgical treatment. In 4 patients of the C group tendon repair ruptured and in 1 patient of the NC group. Conclusions: Six-strand repair technique is an effective procedure to assure early active motion after flexor pollicis longus tendon injuries and good results can also be achieved by omitting the circumferential suture. [ABSTRACT FROM AUTHOR]

Published
2023
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