6 results on '"Bacchin, R."'
Search Results
2. Cognitive reorganization in patients with Parkinson's Disease and Mild Cognitive Impairment: a neuropsychological network approach.
- Author
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Longo C, Romano DL, Malaguti MC, Bacchin R, and Papagno C
- Subjects
- Humans, Male, Female, Aged, Middle Aged, Parkinson Disease complications, Parkinson Disease psychology, Parkinson Disease physiopathology, Cognitive Dysfunction physiopathology, Neuropsychological Tests, Cognition
- Abstract
Parkinson's Disease (PD) exhibits heterogeneous cognitive deficits that may represent different cognitive phenotypes. While previous studies have described them in a "macro" manner, only one study has applied Network Analysis (NA) in PD. NA represents a model to explore relationships between cognitive abilities, aiding in understanding cognitive phenotypes. This study aims to verify whether the cognitive system undergoes reorganization in PD with Mild Cognitive Impairment (PD-MCI) patients. To explore this, a Level II cognitive assessment was administered to 275 PD patients, who were classified into two diagnostic categories: PD-Cognitive Unimpaired (CU) (n = 171) and PD-MCI (n = 104). NA was applied to construct Gaussian Graphical Models for each diagnostic group, where nodes represent cognitive tests and demographic factors, and edges represent their interconnections. The NA revealed substantial differences between the cognitive networks of PD-CU and PD-MCI patients. Specifically, the network of PD-MCI patients appears less sparse, with some weakened relationships between nodes. Overall, the results support the presence of a cognitive reorganization in PD-MCI patients, potentially indicating a functional compensation mechanism. In conclusion, this study enhances the understanding of the cognitive mechanisms underlying cognitive decline in patients with PD., Competing Interests: Declarations Competing interests The authors declare no competing interests., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
3. Disease Stage and Motor Fluctuation Duration Predict Drug Tolerability: A Real-Life, Prospective Italian Multicenter Study on the Use of Opicapone in Parkinson's Disease.
- Author
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Bacchin R, Liccari M, Catalan M, Antonutti L, Manganotti P, Malaguti MC, and Giometto B
- Abstract
Background: Opicapone is a third-generation catechol-O-methyl-transferase inhibitor currently used for the treatment of motor fluctuations in Parkinson's disease. Its benefit and safety have been established by clinical trials; however, data about its use in a real-life context, and particularly in an Italian population of patients with Parkinson's disease, are missing., Objectives: We aimed to gather data about the real-life tolerability/safety of opicapone when used for the treatment of Parkinson's disease-related motor fluctuations., Methods: We enrolled 152 consecutive patients with Parkinson's disease and followed them for 2 years after opicapone introduction. We obtained baseline clinical and demographical information, including disease duration, stage, phenotype, as well as axial and non-motor symptoms. We collected the reasons for any treatment interruption and adverse events emerging after opicapone introduction., Results: Eighty-nine (58%) patients reported adverse events and 46 (30%) patients discontinued the treatment. Adverse events occurred less frequently in "earlier" patients accordingly to the disease course and L-Dopa treatment pathway; a motor fluctuation duration ≥12 months and Hoehn and Yahr scale score ≥2.5 were the main predictors of therapy withdrawal., Conclusions: This study confirms the good tolerability/safety profile of opicapone in a real-life setting and provides country-specific data for Italian patients with Parkinson's disease., (© 2024. The Author(s).)
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- 2024
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4. Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.
- Author
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Marano M, Zizzo C, Malaguti MC, Bacchin R, Cavallieri F, De Micco R, Spagnolo F, Bentivoglio AR, Schirinzi T, Bovenzi R, Ramat S, Erro R, Sorrentino C, Sucapane P, Pilotto A, Lupini A, Magliozzi A, Di Vico I, Carecchio M, Bonato G, Cilia R, Colucci F, Tamma F, Caputo E, Mostile G, Arabia G, Modugno N, Zibetti M, Ceravolo MG, Tambasco N, Cossu G, Valzania F, Manganotti P, Di Lazzaro V, Zappia M, Fabbrini G, Tinazzi M, Tessitore A, Duro G, and Di Fonzo A
- Subjects
- Humans, Male, Female, Aged, Middle Aged, Mutation, Dried Blood Spot Testing, Adult, Aged, 80 and over, Glucosylceramidase genetics, Gaucher Disease genetics, Gaucher Disease blood, Parkinson Disease genetics, Parkinson Disease blood, Psychosine analogs & derivatives, Psychosine blood
- Abstract
Introduction: Gaucher's disease (GD) is caused by biallelic mutations in the GBA1 gene, leading to reduced glucocerebrosidase (GCase) activity and substrate (glucosylceramide and glucosylsphingosine, GlcSph) accumulation. GBA1 variant carriers are at risk of Parkinson's disease (PD), but only those with biallelic mutations cross the threshold of GCase reduction, leading to substrate accumulation and GD. The link between GBA1 mutations, GD and PD is not fully understood. Here we aimed at reporting the results of a large PD population screening with dried blood spot tests for GD., Methods: We measured GCase activity and GlcSph levels in 1344 PD patients with dried blood spot tests, and performed GBA1 genetic sequencing., Results: While the GCase activity was reduced in GBA1-PD carriers compared to wild type PD, GlcSph was increased in GBA1-PD compared to GBA1-controls, regardless of the underlying type of GBA1 variant. 13.6 % and 0.4 % of PD patients had mono- or biallelic GBA1 mutations respectively. GCase deficiency, lipid accumulation and clinical manifestations of GD was detected in five PD patients with biallelic GBA1 mutations, of whom four had a risk combined with a GD causing variant., Conclusions: GlcSph appearing higher in PD may represent a reliable biomarker of the disease and deserves to be further investigated. This study highlights the importance of screening PD patients for possible underlying GD, which is a treatable condition that should not be missed. We diagnosed GD cases carrying a "risk" variant in one allele, which is an unprecedented finding deserving further investigation., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)
- Published
- 2024
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5. Artificial intelligence of imaging and clinical neurological data for predictive, preventive and personalized (P3) medicine for Parkinson Disease: The NeuroArtP3 protocol for a multi-center research study.
- Author
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Malaguti MC, Gios L, Giometto B, Longo C, Riello M, Ottaviani D, Pellegrini M, Di Giacopo R, Donner D, Rozzanigo U, Chierici M, Moroni M, Jurman G, Bincoletto G, Pardini M, Bacchin R, Nobili F, Di Biasio F, Avanzino L, Marchese R, Mandich P, Garbarino S, Pagano M, Campi C, Piana M, Marenco M, Uccelli A, and Osmani V
- Subjects
- Humans, Retrospective Studies, Prospective Studies, Public Health, Observational Studies as Topic, Multicenter Studies as Topic, Artificial Intelligence, Parkinson Disease diagnosis
- Abstract
Background: The burden of Parkinson Disease (PD) represents a key public health issue and it is essential to develop innovative and cost-effective approaches to promote sustainable diagnostic and therapeutic interventions. In this perspective the adoption of a P3 (predictive, preventive and personalized) medicine approach seems to be pivotal. The NeuroArtP3 (NET-2018-12366666) is a four-year multi-site project co-funded by the Italian Ministry of Health, bringing together clinical and computational centers operating in the field of neurology, including PD., Objective: The core objectives of the project are: i) to harmonize the collection of data across the participating centers, ii) to structure standardized disease-specific datasets and iii) to advance knowledge on disease's trajectories through machine learning analysis., Methods: The 4-years study combines two consecutive research components: i) a multi-center retrospective observational phase; ii) a multi-center prospective observational phase. The retrospective phase aims at collecting data of the patients admitted at the participating clinical centers. Whereas the prospective phase aims at collecting the same variables of the retrospective study in newly diagnosed patients who will be enrolled at the same centers., Results: The participating clinical centers are the Provincial Health Services (APSS) of Trento (Italy) as the center responsible for the PD study and the IRCCS San Martino Hospital of Genoa (Italy) as the promoter center of the NeuroartP3 project. The computational centers responsible for data analysis are the Bruno Kessler Foundation of Trento (Italy) with TrentinoSalute4.0 -Competence Center for Digital Health of the Province of Trento (Italy) and the LISCOMPlab University of Genoa (Italy)., Conclusions: The work behind this observational study protocol shows how it is possible and viable to systematize data collection procedures in order to feed research and to advance the implementation of a P3 approach into the clinical practice through the use of AI models., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Malaguti et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
- Published
- 2024
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6. Parkinsonism may aggravate dysphagia in myotonic dystrophy type 1: two case reports.
- Author
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Stano S, Barp A, Bacchin R, and Zuccarino R
- Subjects
- Humans, Muscle, Skeletal, Muscle Weakness etiology, Myotonic Dystrophy complications, Myotonic Dystrophy diagnosis, Myotonic Dystrophy genetics, Deglutition Disorders diagnosis, Deglutition Disorders etiology, Parkinsonian Disorders etiology, Parkinsonian Disorders complications
- Abstract
Introduction: Weakness of trunk muscles, fatigue and reduced mobility are features of myotonic dystrophy type 1 (DM1) and may also characterize patients with extrapyramidal disorders.Dysphagia is common in DM1 and parkinsonism and can be predominant compared to other symptom, often requiring surgical tratment., Methods: We describe two cases of patients with DM1 and parkinsonism who arrived at our Center for worsening dysphagia and who showed very similar and peculiar clinical features., Case Reports: The first patient presented initially at the outpatient clinic reporting a 7 year history of progressive difficulties in swallowing and movement slowness. Neurologic examination showed a general bradykinesia, plastic rigidity of upper limbs, diffuse hypotrophy and deep tendon reflexes weakness. MRI scan of brain and spine was unremarkable, but neurophysiological evaluation revealed diffuse myotonic discharges on distal limb muscles. Genetic testing confirmed DM1 diagnosis (CTG range E1).The second patient, presented with an initial diagnosis of parkinsonism due to a 10 years history of gait impairment, generalized weakness and dysphagia. Due to low back pain a neurophysiological study was performed after 5 years from diagnosis of parkinsonism detecting diffuse myotonic discharges and genetic testing confirmed diagnosis of DM1 (CTG range E2).Percutaneous endoscopic gastrostomy (PEG) was severe and burdensome for both patients.To date, only one case of molecularly confirmed DM1 along with parkinsonism has been described. We have described two cases of DM1 and parkinsonism in which swallowing function has been affected by a synergic effect triggered by both muscle condition and extrapyramidal disease., Competing Interests: The authors declare no conflict of interest., (©2023 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.)
- Published
- 2023
- Full Text
- View/download PDF
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