A5074848198- Peripheral Neuropathies and Disorders
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Hereditary Neurological Disorders
- Glioma Diagnosis and Treatment
- Advanced Neuroimaging Techniques and Applications
- Functional Brain Connectivity Studies
- Chronic Lymphocytic Leukemia Research
- Advanced MRI Techniques and Applications
- Dermatological and Skeletal Disorders
- Genetic Neurodegenerative Diseases
- Multiple Myeloma Research and Treatments
- Peripheral Nerve Disorders
- Cancer Treatment and Pharmacology
- MRI in cancer diagnosis
- EEG and Brain-Computer Interfaces
- Parathyroid Disorders and Treatments
- Brain Metastases and Treatment
- Monoclonal and Polyclonal Antibodies Research
- Myasthenia Gravis and Thymoma
- Orthopedic Surgery and Rehabilitation
- IgG4-Related and Inflammatory Diseases
- Nerve Injury and Rehabilitation
- Spatial Neglect and Hemispheric Dysfunction
- Vestibular and auditory disorders
- DNA Repair Mechanisms
University of Padua
2016-2025
John Wiley & Sons (United States)
2024
Hudson Institute
2024
Veneto Institute of Molecular Medicine
2023
Corbett Hospital
2023
Istituto Oncologico Veneto
2020-2023
Molecular Oncology (United States)
2020-2023
University of Pisa
2023
Synlab Czech (Czechia)
2023
University of Genoa
2021
Abstract Behavioural deficits in stroke reflect both structural damage at the site of injury, and widespread network dysfunction caused by structural, functional, metabolic disconnection. Two recent methods allow for estimation functional disconnection from clinical imaging. This is achieved embedding a patient’s lesion into an atlas connections healthy subjects, deriving ensemble that pass through lesion, thus indirectly estimating its impact on whole brain connectome. indirect assessment...
To assess the prevalence and isotypes of anti-nodal/paranodal antibodies to nodal/paranodal proteins in a large chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) cohort, compare clinical features seronegative vs seropositive patients, gather evidence their isotype-specific pathogenic role.
After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy unknown origin. Since neuropathy/neuronopathy is identified in all with genetically confirmed RFC1 cerebellar ataxia, neuropathy, vestibular areflexia syndrome, we speculated that expansions could underlie fraction neuropathies also diagnosed...
Abstract RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous terms of age onset, disease progression and phenotype. We investigated the role size influencing clinical variables disease. also assessed presence meiotic somatic instability repeat. In this study, we identified 553 patients carrying expansions measured 392 cases. Pearson’s coefficient was calculated to assess correlation between at onset. A Cox model with robust cluster standard errors adopted...
Hereditary amyloid transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, inherited, multisystemic, progressive adult-onset disease, affecting sensorimotor nerves, and various organs. It caused by mutations in the TTR gene, leading to misfolded monomers that aggregate, forming fibrils. Patisiran small, double-stranded interfering RNA encapsulated lipid nanoparticle, designed enter hepatocytes selectively target mRNA reduce both variant wild-type (wt). This study presents...
Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality disease. The aim present study was explore with nerve ultrasound (US) possible red flags early diagnosis in ATTRv patients carpal tunnel syndrome (CTS) and/or polyneuropathy and pre-symptomatic carriers.Patients carriers a TTR gene mutation were enrolled from seven Italian centers. Severity CTS assessed neurophysiology clinical evaluation. Median...
<h3>Objective</h3> To assess whether neuropathy with anti-myelin-associated glycoprotein (MAG) antibody may improve after treatment ibrutinib, an oral inhibitor of Bruton tyrosine kinase, we prospectively treated ibrutinib a cohort 3 patients anti-MAG and Waldenström macroglobulinemia (WM). <h3>Methods</h3> All underwent bone marrow biopsy showing WM, MYD88<sup><i>L265P</i></sup> mutated CXCR4<sup>S338X</sup> wild type, were started on 420 mg/die. Patients assessed at baseline, 3-6-9 months,...
Neuropathy with antibodies to myelin-associated glycoprotein (MAG) is the most common paraproteinemic IgM neuropathy. Recently, mutational profile of
Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a dominantly inherited, adult-onset, progressive, and fatal disease caused by mutations in the gene. Therapeutic agents approved for this include TTR stabilizer tafamidis gene-silencing drugs patisiran inotersen. Inotersen an antisense oligonucleotide that suppresses hepatic production of transthyretin. After European Medical Agency approval 2018, early-access program was opened Italy, article, we present long-term outcome cohort Italian...
The prognosis of overall survival (OS) in patients with glioblastoma (GBM) may depend on the underlying structural connectivity brain.To examine association between white matter tracts affected by GBM and patients' OS means a new tract density index (TDI).This prognostic study histopathologic diagnosis examined discovery cohort 112 who underwent surgery February 1, 2015, November 30, 2020 (follow-up to May 31, 2023), Italy 70 replicative (n = 70) September 2012, 2015 Germany. Statistical...
<h2>Abstract</h2><h3>Aim</h3> Defining the epidemiology of systemic and cardiac amyloidosis (CA) is a contemporary challenge. The present study aimed to estimate incidence time trends in amyloidosis-related hospitalizations (AH) Veneto Region (5 million inhabitants, Northeastern Italy). <h3>Methods</h3> International Classification Diseases (ICD-9) codes were used identify AH from 2010 2020. defined as any hospitalization with discharge summary reporting an ICD-9 code for amyloidosis....
Abstract Purpose Bevacizumab is an anti-angiogenetic treatment that can be used in patients with recurrent glioblastoma, but there are limited and controversial data on the optimal dose schedule, associated toxicities survival benefits of different doses. Methods A retrospective analysis IDH wt glioblastoma treated bevacizumab at Veneto Institute Oncology was performed. Patients received 2 schedules (5 mg/kg or 10 q2w), as monotherapy combination chemotherapy. Results 81 were analyzed, 33 5...
To evaluate long-term lenalidomide neurotoxicity and correlation with cumulative dose hematologic response.Nineteen myeloma patients (7 men, mean age 63.2 years) underwent clinical neurophysiologic assessment at baseline 2 (8 patients, group A) or 5 years (11 B) after starting therapy for relapsed/refractory multiple myeloma. Neuropathy was scored Total Score version (TNSc). Lenalidomide correlated severity of neuropathy response.At enrollment, 7/19 (3 in A, 4 had signs secondary to previous...
The relationship between olfactory function, rhinencephalon and forebrain changes in Kallmann syndrome (KS) have not been adequately investigated. We evaluated a large cohort of male KS patients using Sniffin' Sticks MRI order to study bulb (OB) volume, sulcus (OS) depth, cortical thickness close the OS, phenotype.Olfaction was assessed administering Sticks®, 38 17 controls (by means Screening 12 test®). All subjects underwent magnetic resonance imaging (MRI) OB thickness.Compared controls,...
Anosognosia for hemiplegia (AHP) is a complex syndrome whose neural correlates are still under investigation. One hypothesis, mainly based on lesion mapping studies, that AHP reflects breakdown of systems the right hemisphere involved in motor function. However, more recent theories have suggested may represent disorder cognitive belief updating, self-referential or body processing. Two using method to estimate degree white matter disconnection from lesions, indeed shown patients with suffer...
Hereditary transthyretin (ATTRv, v for variant) amyloidosis with polyneuropathy is a rare disease caused by mutations in the gene. In ATTRv amyloidosis, multisystem extracellular deposits of amyloid cause tissue and organ dysfunction. Patisiran small interfering RNA molecule drug that reduces circulating levels mutant wild-type TTR proteins. Prior to its regulatory approval, patisiran was available Italy through compassionate use programme (CUP). The aim this study analyse long-term outcomes...