2,034 results match your criteria: "Clinica Neurologica[Affiliation]"

Using Noncontrast Computed Tomography to Improve Prediction of Intracerebral Hemorrhage Expansion.

Stroke

February 2023

J.P. Kistler Stroke Research Center, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston (A.C., A.D.W., E.M.G., A.V., S.M.G., J.R., J.N.G.).

Background: Noncontrast computed tomography hypodensities are a validated predictor of hematoma expansion (HE) in intracerebral hemorrhage and a possible alternative to the computed tomography angiography (CTA) spot sign but their added value to available prediction models remains unclear. We investigated whether the inclusion of hypodensities improves prediction of HE and compared their added value over the spot sign.

Methods: Retrospective analysis of patients admitted for primary spontaneous intracerebral hemorrhage at the following 8 university hospitals in Boston, US (1994-2015, prospective), Hamilton, Canada (2010-2016, retrospective), Berlin, Germany (2014-2019, retrospective), Chongqing, China (2011-2015, retrospective), Pavia, Italy (2017-2019, prospective), Ferrara, Italy (2010-2019, retrospective), Brescia, Italy (2020-2021, retrospective), and Bologna, Italy (2015-2019, retrospective).

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Regeneration of the neuromuscular junction (NMJ) leverages on extensive exchange of factors released from motor axon terminals (MATs), muscle fibers and perisynaptic Schwann cells (PSCs), among which hydrogen peroxide (HO) is a major pro-regenerative signal. To identify critical determinants of NMJ remodeling in response to injury, we performed temporal transcriptional profiling of NMJs from 2 month-old mice during MAT degeneration/regeneration, and cross-referenced the differentially expressed genes with those elicited by HO in SCs. We identified an enrichment in extracellular matrix (ECM) transcripts, including Connective Tissue Growth Factor (Ctgf), which is usually expressed during development.

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Attention is a core cognitive function that filters and selects behaviourally relevant information in the environment. The cortical mapping of attentional systems identified two segregated networks that mediate stimulus-driven and goal-driven processes, the Ventral and the Dorsal Attention Networks (VAN, DAN). Deep brain electrophysiological recordings, behavioral data from phylogenetic distant species, and observations from human brain pathologies challenge purely corticocentric models.

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Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.

Neurology

March 2023

From the Pediatric Neurology (Giorgia Coratti, M.R., A.C., M.C.P., M.D.P., E.M.), Università Cattolica del Sacro Cuore, Rome; Centro Clinico Nemo (Giorgia Coratti, M.R., A.C., M.C.P., M.D.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome; Department of Neurosciences (A.D.), Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome; The NEMO Center in Milan (V.S.), Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Italy; Center of Translational and Experimental Myology (C.B.), and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini; Department of Clinical and Experimental Medicine (S.M.), University of Messina; AOU Città della Salute e della Scienza di Torino (F.R., T.M.), presidio Molinette e OIRM (SS Malattie Neuromuscolari e SC Neuropsichiatria Infantile), Turin; Department of Neurological Sciences (M.C.), AOU Ospedali Riuniti di Ancona; AOU Pisana (Department of Clinical and Experimental Medicine) (G.S.), Neurology Unit, Pisa; Neurology Unit (E.P.), Azienda Ospedale Padova, Padua; Department of Neurology/Stroke Unit (M.T.), Bolzano Hospital, Trentino-Alto Adige; Department of Clinical and Experimental Sciences (M.F.), University of Brescia; NeMO-Brescia Clinical Center for Neuromuscular Diseases (M.F.), Brescia; Neurology Unit (Giacomo Comi), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan; Dino Ferrari Center (Giacomo Comi), Department of Pathophysiology and Transplantation, University of Milan; Fondazione IRCCS Istituto Neurologico Carlo Besta Developmental Neurology Unit (R.M.), Milan; Neuroimmunology and Neuromuscular Disorders Unit (L.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Institute for Maternal and Child Health (I.B.), IRCCS, Burlo Garofolo, Trieste; NeuroMuscular Unit (M.G.D.A.), Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco; Scientific Institute IRCCS "E. Medea" (A.T.), Unit for Severe disabilities in developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Brindisi; UOC Clinica Neurologica (V.V.), IRCCS Institute of Neurological Sciences of Bologna, Emilia-Romagna; Metabolic Unit (M.D.), A. Meyer Children's Hospital, Florence; Neurology Unit (I.S.), Azienda Ospedaliero-Universitaria, Policlinico Bari "Amaducci", Bari; Department of Neurosciences (L.R.), Reproductive Sciences and Odontostomatology, University of Naples Federico II; Department of Neurosciences (A.V.), Pediatric Neurology, Santobono-Pausilipon Children's Hospital, Naples; Neurology Unit (L.V.), Department of Neurosciences, University Hospital Santa Maria della Misericordia, Udine, Friuli-Venezia Giulia; Department of Child Neuropsychiatry (A.B.), Fondazione Istituto Neurologico Nazionale C Mondino Istituto di Ricovero e Cura a Carattere Scientifico, Pavia; Dipartimento di Salute della Donna e del Bambino (C.A.), Università di Padova, Padua; IRCCS Istituto delleScienze Neurologiche di Bologna-UOC Neuropsichiatria Infantile (A.P.); Centro Sclerosi Multipla (M.A.M.), P.O. Binaghi, ASSL Cagliari; Cardiomyology and Medical Genetics Unit (L.P.), Università degli Studi della Campania Luigi Vanvitelli Scuola di Medicina e Chirurgia, Napoli; Section of Neurology (F.B.), Department of Biomedicine, Neuroscience, and Advanced Diagnostics (BiND), University of Palermo; Neurology Department (N.C.), Hospital San Francesco of Nuoro; Department of Neuroscience (M.G.), Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant'Andrea Hospital; Neuromuscular Omnicentre (NeMO) Trento-Fondazione Serena Onlus (R.Z.), Pergine Valsugana; Pediatric Neurology Unit (D.G.), Pediatric Hospital "Giovanni XXIII", Bari; Child Neuropsychiatry Unit (S.S.), Paediatric Hospital G Salesi, Ancona; Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan; National Centre for Rare Diseases (D.T.), Istituto Superiore di Sanità, Rome; and Sezione di Igiene (S.B.), Istituto di Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.

Article Synopsis
  • - The study focuses on spinal muscular atrophy (SMA), a genetic neurodegenerative disorder, aiming to determine its prevalence and treatment rates in Italy.
  • - An online survey was conducted across 36 Italian referral centers, revealing 1,255 SMA patients with an estimated prevalence of 2.12 per 100,000 people, categorized by SMA type and severity.
  • - Around 85% of patients received treatment, but the percentage varied by severity, showing higher treatment rates in more severe cases (95.77% for type I compared to 79.01% for type III).
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Abnormalities in cortical sources of resting-state eyes closed electroencephalographic (rsEEG) rhythms recorded by hospital settings (10-20 montage) with 19 scalp electrodes characterized Alzheimer's disease (AD) from preclinical to dementia stages. An intriguing rsEEG application is the monitoring and evaluation of AD progression in large populations with few electrodes in low-cost devices. Here we evaluated whether the above-mentioned abnormalities can be observed from fewer scalp electrodes in patients with mild cognitive impairment due to AD (ADMCI).

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Background: Hematoma expansion (HE) is an appealing therapeutic target in intracerebral hemorrhage (ICH) and non-contrast computed tomography (NCCT) features are promising predictors of HE.

Aims: We investigated whether onset-to-CT time influences the diagnostic performance of NCCT markers for HE.

Methods: Retrospective multicentre analysis of patients with primary ICH.

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Longitudinal prediction of motor dysfunction after stroke: a disconnectome study.

Brain Struct Funct

December 2022

Groupe d'Imagerie Neurofonctionnelle, Institut Des Maladies Neurodégénératives-UMR 5293, CNRS, CEA, University of Bordeaux, Bordeaux, France.

Motricity is the most commonly affected ability after a stroke. While many clinical studies attempt to predict motor symptoms at different chronic time points after a stroke, longitudinal acute-to-chronic studies remain scarce. Taking advantage of recent advances in mapping brain disconnections, we predict motor outcomes in 62 patients assessed longitudinally two weeks, three months, and one year after their stroke.

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What a single electroencephalographic (EEG) channel can tell us about patients with dementia due to Alzheimer's disease.

Int J Psychophysiol

December 2022

Department of Physiology and Pharmacology "Vittorio Erspamer", Sapienza University of Rome, Rome, Italy; Hospital San Raffaele Cassino, Cassino, FR, Italy.

Abnormalities in cortical sources of resting-state eyes-closed electroencephalographic (rsEEG) rhythms recorded by hospital settings (10-20 electrode montage) with 19 scalp electrodes provide useful markers of neurophysiological dysfunctions in the vigilance regulation in patients with Alzheimer's disease dementia (ADD). Here we tested whether these markers may be effective from a few scalp electrodes towards the use of low-cost recording devices. Clinical and rsEEG data acquired in hospital settings (10-20 electrode montage) from 88 ADD participants and 68 age-, education-, and sex-matched normal elderly controls (Nold) were available in an international Eurasian database.

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Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by a (CTG) expansion in the DM protein kinase (DMPK) gene, representing the most common adult muscular dystrophy, characterized by a multisystem involvement with predominantly skeletal muscle and brain affection. Neuroimaging studies showed widespread white matter changes and brain atrophy in DM1, but only a few studies investigated the role of white matter metabolism in the pathophysiology of central nervous system impairment. We aim to reveal the relationship between the metabolic profile of parieto-occipital white matter (POWM) as evaluated with proton MR spectroscopy technique, with the visuoperceptual and visuoconstructional dysfunctions in DM1 patients.

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Correction: Machado et al. Cognitive Intervention Strategies Directed to Speech and Language Deficits in Primary Progressive Aphasia: Practice-Based Evidence from 18 Cases. 2021, , 1268.

Brain Sci

October 2022

Programa de Pós-Graduação em Ciências Aplicadas à Saúde do Adulto, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte 30130-100, MG, Brazil.

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Background: Migraine affects 1 billion people worldwide and > 30 million Brazilians; besides, it is an underdiagnosed and undertreated disorder.

Objective: The need to disseminate knowledge about the prophylactic treatment of migraine is known, so the Brazilian Headache Society (SBCe, in the Portuguese acronym) appointed a committee of authors with the objective of establishing a consensus with recommendations on the prophylactic treatment of episodic migraine based on articles from the world literature as well as from personal experience.

Methods: Meetings were held entirely online, with the participation of 12 groups that reviewed and wrote about the pharmacological categories of drugs and, at the end, met to read and finish the document.

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The Brazilian Headache Society (Sociedade Brasileira de Cefaleia, SBCe, in Portuguese) nominated a Committee of Authors with the aim of establishing a consensus with recommendations regarding prophylactic treatment for episodic migraine based on articles published in the worldwide literature, as well as personal experience. Migraine affects 1 billion people around the world and more than 30 million Brazilians. In addition, it is an underdiagnosed and undertreated disorder.

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Fabry disease is a rare X-linked lysosomal storage disorder due to pathogenic variants of the galactosidase alpha (GLA) gene, leading to a deficiency of alpha-galactosidase A. The inadequate enzymatic activity leads to progressive glycosphingolipids accumulation within tissues and subsequent multi-systemic dysfunction, with predominant involvement of heart, kidney, and nervous system. Two subtypes are recognized: the classic type and the late-onset type.

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Autism spectrum disorders (ASDs) and functional neurological disorders (FNDs) share some clinical characteristics such as alexithymia, sensory sensitivity and interoceptive issues. Recent evidence shows that both the disorders present symptoms compatible with a diagnosis of hypermobile Ehlers-Danlos Syndrome and hypermobile spectrum disorders (hEDS/HSD), a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Here we compared the prevalence of hEDS/HSD-related symptoms in a group of patients with FNDs, of people with ASDs without intellectual disabilities, and a non-clinical comparison group (NC).

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Article Synopsis
  • - The FARPRESTO study aims to comprehensively assess and predict the phenoconversion risk in patients with idiopathic REM sleep behavior disorder (iRBD), as many will eventually develop α-synucleinopathy, with a 73.5% conversion rate over 12 years.
  • - This multicentric study involves both new and existing iRBD patients and focuses on the systematic collection of various biomarkers through electronic case report forms to better understand the condition's progression and impact.
  • - Secondary goals include analyzing patient demographics, monitoring health impacts on quality of life and sleep, linking cognitive performance to sleep behavior, classifying iRBD phenotypes, and validating diagnostic criteria, contributing valuable data to both research and clinical practice
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Introduction: Although stroke occurs frequently in patients with cancer, there is scarce evidence regarding the safety and efficacy of endovascular treatment (EVT) in patients with acute ischemic stroke and concurrent cancer. We performed a systematic review and meta-analysis to summarize the existing literature.

Methods: We searched for English written observational studies reporting data on safety and efficacy of EVT in patients with acute ischemic stroke and concurrent cancer.

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What's new in insomnia? Diagnosis and treatment.

Arq Neuropsiquiatr

May 2022

Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Divisão de Clínica Neurológica, Ambulatório de Medicina do Sono, São Paulo, SP, Brazil.

Although, insomnia is one of the most common diseases that health professionals face in their practice, it receives little attention in medical training. Diagnosis is based on a careful history taking, and physicians must be aware of the diagnostic criteria. Insomnia should not be considered a symptom, but a comorbid condition.

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Genetic investigation of dementias in clinical practice.

Arq Neuropsiquiatr

May 2022

, Faculdade de Medicina, Hospital das Clinicas, Divisão de Clínica Neurológica, São Paulo SP, Brazil.

Background: The field of neurodegenerative dementia genetics has advanced significantly over the past two decades, but there are still more to be discovered (such as the gene mutation in some familial forms of dementia).

Objective: to provide a brief review of the most recent discoveries regarding monogenic dementia, and covering the most frequent genetic diseases that can cause dementia (neurodegenerative or not).

Methods: a review of the literature will be carried out.

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Background: Definitions for reliable identification of transition from relapsing-remitting multiple sclerosis (MS) to secondary progressive (SP)MS in clinical cohorts are not available.

Objectives: To compare diagnostic performances of two different data-driven SPMS definitions.

Methods: Data-driven SPMS definitions based on a version of Lorscheider's algorithm (DDA) and on the EXPAND trial inclusion criteria were compared, using the neurologist's definition (ND) as gold standard, in terms of sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), Akaike information criterion (AIC) and area under the curve (AUC).

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A Second Case With the V374A Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia.

Neurol Genet

October 2022

IRCCS Istituto delle Scienze Neurologiche di Bologna (F.P., C.L.M., C.F., L.C., M.L.V., V.C.), Programma di Neurogenetica, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (C.L.M., V.D., R.L.), UOC Clinica Neurologica, Italy; and Department of Biomedical and NeuroMotor Sciences (DIBINEM) (M.L.V., R.L., V.C.), University of Bologna, Italy.

Background And Objectives: To date, approximately 20 heterozygous mainly loss-of-function variants in have been associated with spinocerebellar ataxia (SCA) type 19 and 22, a clinically heterogeneous group of neurodegenerative disorders. We aimed at reporting the second patients with the V374A mutation from an independent family, confirming its pathogenic role.

Methods: We describe the clinical history of a patient with SCA and conducted genetic investigations including mitochondrial DNA analysis and exome sequencing.

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A misleading presentation of Mohr-Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?

Parkinsonism Relat Disord

September 2022

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Largo P. Daneo 3, 16132, Genova, Italy; IRCCS Ospedale Policlinico San Martino - UOC Genetica Medica, Largo R. Benzi 10, 16132, Genova, Italy. Electronic address:

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EEG Evaluation of Stress Exposure on Healthcare Workers During COVID-19 Emergency: Not Just an Impression.

Front Syst Neurosci

July 2022

Unità di Neurofisiopatologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Psychological distress among healthcare professionals, although already a common condition, was exacerbated by the COVID-19 pandemic. This effect has been generally self-reported or assessed through questionnaires. We aimed to identify potential abnormalities in the electrical activity of the brain of healthcare workers, operating in different roles during the pandemic.

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