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33 results on '"Zini, Michela"'

1. Current state-of-the-art and gaps in platform trials: 10 things you should know, insights from EU-PEARL

Author

Sánchez-Montalva, Adrian, Estevez, Ana Belén, Sánchez, Àlex, Sanjuan, Anna, Sena, Elena, Granados, Emma, Arévalo de Andrés, Esther, Nuñez, Fátima, Arteaga, Gara, Fuentes Ruiz, Gabriela Perez, Fernández, Guillermo, Rivera-Esteban, Jesus, Comella, Joan, Ramos-Quiroga, Josep Antoni, Genescà, Joan, Espinosa, Juan, Pericàs, Juan Manuel, Murcia, Lada, Cash-Gibson, Lucinda, de Valles Silvosa, Maria, Barroso de Sousa, María Fernanda, Sánchez-Maroto Carrizo, Olga, Ibañez-Jiménez, Pol, Augustin, Salvador, Perez-Hoyos, Santiago, Rodríguez-Navarro, Sarai, Muñoz-Martínez, Sergio, Serres, Silvia, Kalko, Susana, Michon, Amelie, Ussi, Anton, Lydall, Ben, van de Ketterij, Edwin, Quiles, Ignacio, Carapina, Tamara, Kumaus, Constantin, Ramazanova, Dariga, Meyer, Elias Laurin, Koenig, Franz, Roig, Marta Bofill, Brunner, Martin, Posch, Martin, Krotka, Pavla, Zehetmayer, Sonja, Carton, Charlotte, Legius, Eric, Begum, Amina, Pariante, Carmine, Worrell, Courtney, Lombardo, Giulia, Sforzini, Luca, Brown, Mollie, Gullet, Nancy, Amasi-Hartoonian, Nare, Ferner, Rosalie, Kose, Melisa, Spitaleri, Andrea, Ghodousi, Arash, Di Serio, Clelia, Cirillo, Daniela, Cugnata, Federica, Saluzzo, Francesca, Benedetti, Francesco, Scarale, Maria Giovanna, Zini, Michela, Rancoita, Paola Maria, Alagna, Riccardo, Poletti, Sara, Dhaenens, Britt, Van Der Lei, Johan, de Steenwinkel, Jurriaan, Moinat, Maxim, Oostenbrink, Rianne, Hoogendijk, Witte, Hölscher, Michael, Heinrich, Norbert, Otte, Christian, Potratz, Cornelia, Zocholl, Dario, Kulakova, Eugenia, Tacke, Frank, Brasanac, Jelena, Leubner, Jonas, Krajewska, Maja, Freitag, Michaela Maria, Gold, Stefan, Zoller, Thomas, Chae, Woo Ri, Daniel, Christel, Kara, Leila, Vaterkowski, Morgan, Griffon, Nicolas, Wolkenstein, Pierre, Pais, Raluca, Ratziu, Vlad, Voets, David, Maes, Christophe, Kalra, Dipak, Thienpoint, Geert, Deckerck, Jens, Lea, Nathan, Singleton, Peter, Viele, Kert, Jacko, Peter, Berry, Scott, Parke, Tom, Aydin, Burç, Kubiak, Christine, Demotes, Jacques, Ueda, Keiko, Matei, Mihaela, Contrino, Sergio, Röhl, Claas, Cordero, Estefania, Greenhalgh, Fiona, Jarke, Hannes, Angelova, Juliana, Boudes, Mathieu, Dressler, Stephan, Strammiello, Valentina, Anstee, Quentin, Gutierrez-Ibarluzea, Iñaki, Otte, Maximilian, Heimbach, Natalie, Hofner, Benjamin, Burgwinkel, Cora, Kaestel, Hue, Hees, Katharina, Nguyen, Quynh, Prieto-Alhambra, Daniel, Tan, Eng Hooi (Cheryl), Raviglione, Mario, de Colombani, Pierpaolo, Villa, Simone, Maron, Eduard, Evans, Gareth, Savitz, Adam J., Van Dessel, Ann, Duca, Anna, Kaminski, Anne, Wouters, Bie, Porter, Brandon, Charron, Catherine, Spiertz, Cecile, Zizzamia, Christopher, Millar, Daniel, Hasselbaink, Danny, Orr, David, Kesters, Divya, Hubin, Ellen, Davies, Emma, Didden, Eva-Maria, Guz, Gabriela, Verstraete, Evelyn, Mao, Gary, Capuano, George, Martynowicz, Heddie, De Smedt, Heidi, Larsson, Ingela, Bruegelmans, Ines, Coste, Isabelle, Gonzalez Moreno, Jesus Maria, Niewczas, Julia, Xu, Jiajun, Rombouts, Karin, Woo, Katherine, Wuyts, Kathleen, Hersh, Kathryn, Oldenburg, Khrista, Zhang, Lingjiao, Schmidt, Mark, Szuch, Mark, Todorovic, Marija, Mangelaars, Maartje, Grewal, Melissa, Sandor, Molli, Di Prospero, Nick, Van Houten, Pamela, Minnick, Pansy, Bastos, Polyana, Patrizi, Robert, Morello, Salvatore, De Wilde, Severijn, Sun, Tao, Kline, Timothy, de Marez, Tine, Mielke, Tobias, Reijns, Tom, Popova, Vanina, Flossbach, Yanina, Tymofyeyev, Yevgen, De Groote, Zeger, Sverdlov, Alex, Bobirca, Alexandra, Krause, Annekatrin, Bobrica, Catalin, Heintz, Daniela, Magirr, Dominic, Glimm, Ekkehard, Baffert, Fabienne, Castiglione, Federica, Caruso, Franca, Patalano, Francesco, Bretz, Frank, Heimann, Guenter, Carbarns, Ian, Rodríguez, Ignacio, Ratescu, Ioana, Hampson, Lisa, Pedrosa, Marcos, Hark, Mareile, Mesenbrink, Peter, Penna, Sabina Hernandez, Bergues-Lang, Sarah, Baltes-Engler, Susanne, Arsiwala, Tasneem, Mondragon, Valeria Jordan, Guo, Hua, Da Costa, Jose Leite, Burman, Carl-Fredrik, Kirk, George, Aaes-Jørgensen, Anders, Dirach, Jorgen, Kjær, Mette Skalshøi, Martin, Alexandra, Hristov, Diyan, Rousseaux, Florent, Hittel, Norbert, Dornheim, Robert, Evans, Daniel, Sykes, Nick, Couvert, Camille, Leuven, Catherine, Notelet, Loïc, Gidh-Jain, Madhavi, Jouannin, Mathieu, Ammour, Nadir, Pierre, Suzanne, Haufe, Volker, Dong, Yingwen, Dubanchet, Catherine, de Préville, Nathalie, Baltauss, Tania, Jian, Zhu, Shnider, Sara, Bar-El, Tal, Bakker, Annette, Nievo, Marco, Iloeje, Uche, Conradie, Almari, Auffarrth, Ece, Lombard, Leandra, Benhayoun, Majda, Olugbosi, Morounfolu, Seidel, Stephanie S., Gumí, Berta, Guzmán, Claudia García, Molero, Eva, Pairó, Gisela, Machin, Núria, Cardelús, Raimon, Ramasastry, Saira, Pelzer, Saskia, Kremer, Andreas, Lindfors, Erno, Lynch, Chris, Spiertz, Cécile, Machín, Núria, and Pericàs, Juan M.

Published
2024
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2. Onset and mortality of Parkinson’s disease in relation to type II diabetes

Author

Pezzoli, Gianni, Cereda, Emanuele, Amami, Paolo, Colosimo, Santo, Barichella, Michela, Sacilotto, Giorgio, Zecchinelli, Anna, Zini, Michela, Ferri, Valentina, Bolliri, Carlotta, Calandrella, Daniela, Bonelli, Maria Grazia, Cereda, Viviana, Reali, Elisa, Caronni, Serena, Cassani, Erica, Canesi, Margherita, del Sorbo, Francesca, Soliveri, Paola, Zecca, Luigi, Klersy, Catherine, Cilia, Roberto, and Isaias, Ioannis U.

Published
2023
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3. A Core Outcome Set for Inflammatory Bowel Diseases: Development and Recommendations for Implementation in Clinical Practice Through an International Multi-stakeholder Consensus Process.

Author

Fierens, Liselotte, Carney, Nicholas, Novacek, Gottfried, Woude, C Janneke van der, Siegmund, Britta, Casellas, Francesc, Borruel, Natalia, Huberts, Anouk S, Sonnenberg, Elena, Gerold, Nathalie, Primas, Christian, Hedin, Charlotte R H, Stamm, Tanja, Julsgaard, Mette, Fiorino, Gionata, Radice, Simona, Zini, Michela Luciana Luisa, Gross, Evelyn, Sander, Cornelia, and Arijs, Ingrid

Abstract

Background and Aims Standardising health outcome measurements supports delivery of care and enables data-driven learning systems and secondary data use for research. As part of the Health Outcomes Observatory [H2O] initiative, and building on existing knowledge, a core outcome set [COS] for inflammatory bowel diseases [IBD] was defined through an international modified Delphi method. Methods Stakeholders rated 90 variables on a 9-point importance scale twice, allowing score modification based on feedback displayed per stakeholder group. Two consecutive consensus meetings were held to discuss results and formulate recommendations for measurement in clinical practice. Variables scoring 7 or higher by ≥80% of the participants, or based on consensus meeting agreement, were included in the final set. Results In total, 136 stakeholders (45 IBD patients [advocates], 74 health care professionals/researchers, 13 industry representatives, and four regulators) from 20 different countries participated. The final set includes 18 case-mix variables, three biomarkers [haemoglobin to detect anaemia, C-reactive protein and faecal calprotectin to detect inflammation] for completeness, and 28 outcomes (including 16 patient-reported outcomes [PROs] and one patient-reported experience). The PRO-2 and IBD-Control questionnaires were recommended to collect disease-specific PROs at every contact with an IBD practitioner, and the Subjective Health Experience model questionnaire, PROMIS Global Health and Self-Efficacy short form, to collect generic PROs annually. Conclusions A COS for IBD, including a recommendation for use in clinical practice, was defined. Implementation of this set will start in Vienna, Berlin, Barcelona, Leuven, and Rotterdam, empowering patients to better manage their care. Additional centres will follow worldwide. [ABSTRACT FROM AUTHOR]

Published
2024
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4. The Clinical Spectrum of ANO3—Report of a New Family and Literature Review.

Author

Percetti, Marco, Zini, Michela, Soliveri, Paola, Cogiamanian, Filippo, Ferrara, Mariarosa, Orunesu, Eva, Ranghetti, Alessandra, Ferrarese, Carlo, Pezzoli, Gianni, Garavaglia, Barbara, Isaias, Ioannis Ugo, and Sacilotto, Giorgio

Subjects
*LITERATURE reviews, *PERCEPTUAL motor learning, *GENETIC variation, *MOVEMENT disorders, *AGE of onset, *FAMILIES
Abstract

Background: Mutations in ANO3 are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood. Cases: We extensively characterize a new, large ANO3 family with six affected carriers. The proband is a young girl who had suffered from tremor and painful dystonic movements in her right arm since the age of 11 years. She later developed a diffuse dystonic tremor and mild extrapyramidal signs (ie, rigidity and hypodiadochokinesis) in her right arm. She also suffered from psychomotor delay and learning difficulties. Repeated structural and functional neuroimaging were unremarkable. A dystonic tremor was also present in her two sisters. Her paternal aunt, father, and a third older sister presented episodic postural tremor in the arms. The father and one sister also presented learning difficulties. The heterozygous p.G6V variant in ANO3 was identified in all affected subjects. Literature review: Stratification by age at onset divided ANO3 cases into two major groups, where younger patients displayed a more severe phenotype, probably due to variants near the scrambling domain. Conclusions: We describe the phenotype of a new ANO3 family and highlight the need for functional studies to explore the impact of ANO3 variants on its phospholipid scrambling activity. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Dementia in Parkinson's disease: Is male gender a risk factor?

Author

Cereda, Emanuele, Cilia, Roberto, Klersy, Catherine, Siri, Chiara, Pozzi, Beatrice, Reali, Elisa, Colombo, Aurora, Zecchinelli, Anna Lena, Mariani, Claudio Bruno, Tesei, Silvana, Canesi, Margherita, Sacilotto, Giorgio, Meucci, Nicoletta, Zini, Michela, Isaias, Ioannis Ugo, Barichella, Michela, Cassani, Erica, Goldwurm, Stefano, and Pezzoli, Gianni

Published
2016
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6. Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene

Author

Chumarina, Margarita, Russ, Kaspar, Azevedo, Carla, Heuer, Andreas, Pihl, Maria, Collin, Anna, Frostner, Eleonor Åsander, Elmer, Eskil, Hyttel, Poul, Cappelletti, Graziella, Zini, Michela, Goldwurm, Stefano, and Roybon, Laurent

Published
2019
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11. Parkinsonʼs disease beyond 20 years

Author

Cilia, Roberto, Cereda, Emanuele, Klersy, Catherine, Canesi, Margherita, Zecchinelli, Anna L, Mariani, Claudio B, Tesei, Silvana, Sacilotto, Giorgio, Meucci, Nicoletta, Zini, Michela, Ruffmann, Claudio, Isaias, Ioannis U, Goldwurm, Stefano, and Pezzoli, Gianni

Published
2015
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13. Parkin analysis in early onset Parkinson's disease

Author

Sironi, Francesca, Primignani, Paola, Zini, Michela, Tunesi, Sara, Ruffmann, Claudio, Ricca, Sara, Brambilla, Tiziana, Antonini, Angelo, Tesei, Silvana, Canesi, Margherita, Zecchinelli, Anna, Mariani, Claudio, Meucci, Nicoletta, Sacilotto, Giorgio, Cilia, Roberto, Isaias, Ioannis U., Garavaglia, Barbara, Ghezzi, Daniele, Travi, Maurizio, Decarli, Adriano, Coviello, Domenico A., Pezzoli, Gianni, and Goldwurm, Stefano

Published
2008
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15. Su1797 THE COLLECTION OF THE PATIENT-REPORTED OUTCOMES INCLUDED IN THE CORE DATA SET FOR PATIENTS WITH INFLAMMATORY BOWEL DISEASE: PRACTICAL RECOMMENDATIONS

Author

Fierens, Liselotte, Novacek, Gottfried, Gerold, Nathalie, Casellas, Francesc, Borruel, Natalia, Van Der Woude, Christien Janneke, Huberts, Anouk S., Siegmund, Britta, Sonnenberg, Elena, Stamm, Tanja, Hedin, Charlotte R., Julsgaard, Mette, Fiorino, Gionata, Simona, Radice, Zini, Michela Luciana Luisa, Gross, Evelyn, Sander, Cornelia, Arijs, Ingrid, Vakouftsi, Vasiliki-Rafaela, Carney, Nicholas, Charlafti, Ilias, and Ferrante, Marc

Published
2023
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17. LRRK2 G2019S mutation and Parkinson's disease: A clinical, neuropsychological and neuropsychiatric study in a large Italian sample

Author

Goldwurm, Stefano, Zini, Michela, Di Fonzo, Alessio, De Gaspari, Danilo, Siri, Chiara, Simons, Erik J., van Doeselaar, Marina, Tesei, Silvana, Antonini, Angelo, Canesi, Margherita, Zecchinelli, Anna, Mariani, Claudio, Meucci, Nicoletta, Sacilotto, Giorgio, Cilia, Roberto, Isaias, Ioannis U., Bonetti, A., Sironi, Francesca, Ricca, Sara, Oostra, Ben A., Bonifati, Vincenzo, and Pezzoli, Gianni

Published
2006
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21. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

Author

Corbett Alastair, Nicholson Garth, Litvan Irene, Itin Ilia, Baker Kenneth B, DeStefano Anita L, Laramie Jason M, Huskey Karen W, Massood Tiffany, Wilk Jemma B, Nagle Michael W, Williamson Sally, Hendricks Audrey E, Saint-Hilaire Marie H, Zini Michela, Pezzoli Gianni, Goldwurm Stefano, Singer Carlos, Shill Holly A, Ahmed Anwar, Perlmutter Joel S, Guttman Mark, Racette Brad A, Watts Ray L, Wooten G Frederick, Growdon John H, Mark Margery H, Golbe Lawrence I, Klein Christine, Suchowersky Oksana, Lew Mark F, Sun Mei, Latourelle Jeanne C, Nance Martha, Drasby Edward, Isaacson Stuart, Burn David J, Chinnery Patrick F, Pramstaller Peter P, Al-hinti Jomana, Moller Anette T, Ostergaard Karen, Sherman Scott J, Roxburgh Richard, Snow Barry, Slevin John T, Cambi Franca, Gusella James F, and Myers Richard H

Subjects
Medicine
Abstract

Abstract Background We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser (G2019S), is associated with approximately 5 to 6% of familial PD cases and 1 to 2% of idiopathic cases, making it the most common known genetic cause of PD. Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD. Methods A sample, including 903 affected and 58 unaffected members from 509 families ascertained for having two or more PD-affected members, 126 randomly ascertained PD patients and 197 controls, was screened for five different LRRK2 mutations. Penetrance was estimated in families of LRRK2 carriers with consideration of the inherent bias towards increased penetrance in a familial sample. Results Thirty-one out of 509 families with multiple cases of PD (6.1%) were found to have 58 LRRK2 mutation carriers (6.4%). Twenty-nine of the 31 families had G2019S mutations while two had R1441C mutations. No mutations were identified among controls or unaffected relatives of PD cases. Nine PD-affected relatives of G2019S carriers did not carry the LRRK2 mutation themselves. At the maximum observed age range of 90 to 94 years, the unbiased estimated penetrance was 67% for G2019S families, compared with a baseline PD risk of 17% seen in the non-LRRK2-related PD families. Conclusion Lifetime penetrance of LRRK2 estimated in the unascertained relatives of multiplex PD families is greater than that reported in studies of sporadically ascertained LRRK2 cases, suggesting that inherited susceptibility factors may modify the penetrance of LRRK2 mutations. In addition, the presence of nine PD phenocopies in the LRRK2 families suggests that these susceptibility factors may also increase the risk of non-LRRK2-related PD. No differences in penetrance were found between men and women, suggesting that the factors that influence penetrance for LRRK2 carriers are independent of the factors which increase PD prevalence in men.

Published
2008
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27. Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.

Author

Cilia, Roberto, Tunesi, Sara, Marotta, Giorgio, Cereda, Emanuele, Siri, Chiara, Tesei, Silvana, Zecchinelli, Anna L., Canesi, Margherita, Mariani, Claudio B., Meucci, Nicoletta, Sacilotto, Giorgio, Zini, Michela, Barichella, Michela, Magnani, Corrado, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia, Seresini, Agostino, Seia, Manuela, and Pezzoli, Gianni

Abstract

Objective: The objective of this work was to investigate survival, dementia, and genotype-phenotype correlations in patients with Parkinson's disease (PD) with and without mutations on the glucocerebrosidase gene (GBA).Methods: We included 2,764 unrelated consecutive PD patients: 123 GBA carriers (67 mild-p.N370S and 56 severe mainly p.L444P) and 2,641 noncarriers. Brain perfusion and dopamine transporter imaging was analyzed, including dementia with Lewy Bodies (DLB) as an additional control group.Results: Multivariable analysis adjusted by sex, age at onset, and disease duration attributed to GBA carriers a greater risk for dementia (hazard ratio [HR] = 3.16; p < 0.001) and death (HR = 1.85; p = 0.002) than noncarriers. When dementia was introduced in the model as a time-dependent covariate, the mortality risk remained greater in carriers (HR = 1.65; p = 0.016), suggesting that other clinical features are likely to contribute to reduced survival. At last examination, GBA carriers had worse motor symptoms, particularly nondopaminergic features. Carriers of severe mutations had greater risk for dementia compared to mild mutations (p < 0.001), but similar mortality risk. Consistent with clinical data, GBA carriers showed reduced posterior parietal and occipital cortical synaptic activity and nigrostriatal function than PD noncarriers. Neuroimaging features of carriers of mild mutations overlapped with PD noncarriers, whereas carriers of severe mutations were closer to DLB.Interpretation: Survival is reduced in GBA carriers compared to noncarriers; this seems to be partially independent from the increased risk for early dementia. The risk for dementia is strongly modulated by type of mutation. In the clinical continuum between PD and DLB, patients with GBA mutations seem to localize midway, with carriers of severe mutations closer to DLB than to idiopathic PD. Ann Neurol 2016;80:662-673. [ABSTRACT FROM AUTHOR]

Published
2016
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32. A Narrative Literature Review of Bias in Collecting Patient Reported Outcomes Measures (PROMs)

Author

Giuseppe Banfi, Michela Luciana Luisa Zini, Zini, Michela Luciana Luisa, and Banfi, Giuseppe

Subjects
Correction method, bias, Health, Toxicology and Mutagenesis, Cost-Benefit Analysis, Applied psychology, Review, Prom, patient reported outcomes, patient reported outcomes measures, PROMs, Recall bias, Humans, Narrative, Patient Reported Outcome Measures, Proxy (statistics), Collection methods, Data Collection, Public Health, Environmental and Occupational Health, Response bias, Orthopedics, Economic evaluation, Quality of Life, PROs, Medicine, Psychology
Abstract

There is a growing interest in the collection and use of patient reported outcomes because they not only provide clinicians with crucial information, but can also be used for economic evaluation and enable public health decisions. During the collection phase of PROMs, there are several factors that can potentially bias the analysis of PROM data. It is crucial that the collected data are reliable and comparable. The aim of this paper was to analyze the type of bias that have already been taken into consideration in the literature. A literature review was conducted by the authors searching on PubMed database, after the selection process, 24 studies were included in this review, mostly regarding orthopedics. Seven types of bias were identified: Non-response bias, collection method related bias, fatigue bias, timing bias, language bias, proxy response bias, and recall bias. Regarding fatigue bias and timing bias, only one study was found; for non-response bias, collection mode related bias, and recall bias, no agreement was found between studies. For these reasons, further research on this subject is needed in order to assess each bias type in relation to each medical specialty, and therefore find correction methods for reliable and comparable data for analysis.

Published
2021

33. Levodopa in Parkinson's disease: from the past to the future.

Author

Pezzoli G and Zini M

Subjects
Antiparkinson Agents pharmacokinetics, Humans, Levodopa pharmacokinetics, MEDLINE, Parkinson Disease metabolism, Parkinson Disease physiopathology, Treatment Outcome, Antiparkinson Agents therapeutic use, Levodopa therapeutic use, Parkinson Disease drug therapy
Abstract

Importance of the Field: Levodopa is the mainstay of symptomatic treatment for Parkinson's disease (PD). Although other treatments have been developed in the last 30 years, most patients use levodopa in view of its superior efficacy in controlling PD symptoms. Unfortunately, levodopa is associated with long-term motor complications (motor fluctuations and dyskinesias). The main causes of these undesirable effects are the narrowing of the therapeutic window with the natural progression of the disease, pulsatile dopaminergic stimulation due to the short half-life of the drug and erratic absorption. Several studies suggest that PD control could be enhanced by changing the mode of levodopa delivery so as to ensure continuous and stable supply of the drug to the brain. The objective of this text is to review the ascertained strengths and limitations of levodopa in PD, starting from its history, and propose novel modes of usage designed to cover currently unmet medical needs., Areas Covered in This Review: Medline literature search (from 1973 to date)., What the Reader Will Gain: A perspective on the evolution of PD pharmacological treatment., Take Home Message: Levodopa still is the best treatment for PD. Truly stable and controlled formulations that ensure clinical response should be developed to reduce the undesirable effects that restrict its efficacy.

Published
2010
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