705 results match your criteria: "Scientific Institute "IRCCS E. Medea"[Affiliation]"

Background/objectives: Ventriculoperitoneal shunting is a validated procedure for the treatment of idiopathic normal-pressure hydrocephalus. To select shunt-responsive patients, infusion and tap tests can be used. Only gait is evaluated after the procedure to establish a potential improvement.

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Introduction: Cognitive symptoms are common in Parkinson's Disease (PD), and digital interventions like telerehabilitation other an accessible way to manage these symptoms. This study aimed to assess the effectiveness of a Home-Based Computerized Cognitive Training (HB-CCT) program in individuals with PD using a pilot randomized cross-over design.

Methods: Twenty-five participants (mean age 69.

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Background: Hikikomori, or prolonged social withdrawal, is a clinical condition usually emerging during adolescence or young adulthood, characterized by severe self-isolation in one's home, and often associated with other psychiatric disorders and symptoms.

Objective: The study summarized evidence of hikikomori diagnostic criteria, clinical manifestations, and comorbidity with psychiatric disorders and symptoms in adolescents and young adults.

Methods: A scoping review was conducted following PRISMA guidelines, with four electronic databases searched for original works in English, French, and Italian published since 2010.

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Multiparametric MRI Assessment of Morpho-Functional Muscle Changes Following a 6-Month FES-Cycling Training Program: Pilot Study in People With a Complete Spinal Cord Injury.

JMIR Rehabil Assist Technol

January 2025

Istituto di Sistemi e Tecnologie Industriali Intelligenti per il Manifatturiero Avanzato, Consiglio Nazionale delle Ricerche, via Alfonso Corti, 12, Milan, 20133, Italy, 39 02 2369 993.

Background: Spinal cord injuries (SCIs) cause debilitating secondary conditions such as severe muscle deterioration, cardiovascular, and metabolic dysfunctions, significantly impacting patients' quality of life. Functional electrical stimulation (FES) combined with cycling exercise (FES-cycling) has shown promise in improving muscle function and health in individuals with SCI.

Objective: This pilot study aimed to investigate the potential role of multiparametric magnetic resonance imaging (MRI) to assess muscle health during and after an FES-cycling rehabilitation program.

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: Chronobiology has gained attention in the context of paediatric neurological and neuropsychiatric disorders, including migraine, epilepsy, autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and post-traumatic stress disorder (PTSD). Disruptions in circadian rhythms are associated with key symptoms such as sleep disturbances, mood dysregulation, and cognitive impairments, suggesting a potential for chronobiology-based therapeutic approaches. : This narrative review employs a systematic approach to identify relevant studies through searches of three major scientific databases, NCBI/PubMed, ScienceDirect, and Scopus, up to July 2024.

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Temporal lobe epilepsy (TLE) is characterized by alterations of brain dynamic on a large-scale associated with altered cognitive functioning. Here, we aimed at analyzing dynamic reconfiguration of brain activity, using the neural fingerprint approach, to delineate subject-specific characteristics and their cognitive correlates in TLE. We collected 10 min of resting-state scalp-electroencephalography (EEG, 128 channels), free from epileptiform activity, from 68 TLE patients and 34 controls.

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Background: Tractography allows the in vivo study of subcortical white matter, and it is a potential tool for providing predictive indices on post-operative outcomes. We aim at establishing whether there is a relation between cognitive outcome and the status of the inferior fronto-occipital fasciculus's (IFOF's) microstructure.

Methods: The longitudinal neuropsychological data of thirty young (median age: 35 years) patients operated on for DLGG in the left temporo-insular cortex along with pre-surgery tractography data were processed.

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Background: Under standard therapies, the incidence of drug-induced liver injury (DILI) in patients with tuberculosis ranges from 2% to 28%. Numerous studies have identified the risk factors for antituberculosis DILI; however, none have been conducted in a multiethnic real-world setting. The primary outcome of the current study was to identify the risk factors that could be used as the best predictors of DILI in a multiethnic cohort.

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Background: Robot-Assisted Gait Rehabilitation (RAGR) is an established clinical practice to encourage neuroplasticity in patients with neuromotor disorders. Nevertheless, tasks repetition imposed by robots may induce boredom, affecting clinical outcomes. Thus, quantitative assessment of engagement towards rehabilitation using physiological data and subjective evaluations is increasingly becoming vital.

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Article Synopsis
  • The study aimed to assess the prevalence, age distribution, and functional status of Duchenne muscular dystrophy (DMD) in Italy, highlighting improvements in care recommendations.
  • The survey involved data collection from 31 reference centers across the country, identifying key demographic and functional factors among 972 diagnosed individuals aged 6 months to 48 years.
  • Results showed a prevalence of 1.65/100,000 people, with 43% ambulant and 57% non-ambulant, and most patients did not require significant respiratory or nutritional support.
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Introduction: Individuals with diverse motor abilities often benefit from intensive and specialized rehabilitation therapies aimed at enhancing their functional recovery. Nevertheless, the challenge lies in the restricted availability of neurorehabilitation professionals, hindering the effective delivery of the necessary level of care. Robotic devices hold great potential in reducing the dependence on medical personnel during therapy but, at the same time, they generally lack the crucial human interaction and motivation that traditional in-person sessions provide.

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Objective: Individuals diagnosed with Spinal Muscular Atrophy (SMA), particularly those presenting with the most severe phenotypes, have long contended with significant swallowing dysfunction. The recent emergence of efficacious advanced therapy has fundamentally altered the landscape of SMA management. By encompassing both the pre and post gene-based therapy eras within our analysis, we endeavour to elucidate the potential impact of these novel therapeutic interventions on this function.

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Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.

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Neurodevelopmental disability (ND) poses a significant challenge to infants' socio-emotional and cognitive development, as well as to caregiving dynamics, such as parental sensitivity and mother-infant interaction. Prior research highlights the crucial role of early parenting support interventions in enhancing parental behaviors, serving as a protective developmental factor for children at risk for or diagnosed with ND. This single-cohort, multicentric study aims to evaluate the efficacy of early video-feedback intervention (VFI) in improving maternal parenting behaviors.

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: Seizure prediction could greatly improve the quality of life of people suffering from epilepsy. Modern prediction systems leverage artificial intelligence (AI) techniques to automatically analyze neurophysiological data, most commonly the electroencephalogram (EEG), in order to anticipate upcoming epileptic events. However, the performance of these systems is normally assessed using randomized splitting methods, which can suffer from data leakage and thus result in an optimistic evaluation.

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Epilepsy is one of the most diffused neurological disorders, affecting 50 million people worldwide. Around 30% of patients have drug-resistant epilepsy (DRE), defined as failure of at least two tolerated antiseizure medications (ASMs) to achieve sustained seizure freedom. Brain surgery is an effective therapeutic approach in this group, hinging on the accurate localization of the epileptic focus.

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Although the uneven neuropsychological profile of William Syndrome (WS) is well established, less is known about social perception and how profile characteristics may affect the ability to predict other's intentions, a main hallmark of social cognition. This study aimed at examining the neuropsychological profile, including social perception, of adolescents and adults with WS, and at verifying which neuropsychological outcome might account for their social prediction ability. Twenty-six individuals with WS were administered a comprehensive neuropsychological assessment, and a virtual reality scenario designed to assess social prediction in a dynamic, everyday life-like context.

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Neurophysiological evidence of motor contribution to vicarious affective touch.

Cereb Cortex

November 2024

School of Psychology, Faculty of Health, Liverpool John Moores University, Tom Reilly Building, Byrom Street, Liverpool L3 3AF, United Kingdom.

Understanding observed interpersonal touch, particularly the so-called affective touch targeting the CT fibers, is essential for social interactions. Research has documented that observing other people being touched activates the same cortical areas involved in direct tactile experiences. However, observing interpersonal touch also activates an inner simulation of the movements in the observer's motor system.

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Tonic and tonic-clonic seizures in the first year of life: Insights from electrographic features.

Epilepsy Behav

December 2024

Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù, IRCCS Children's Hospital, Full Member of European Reference Network EpiCARE, Rome, Italy.

Objective: We studied the electrographic features of tonic seizures (TS) with bilateral contraction and tonic-clonic seizures (TCS) without focal signs occurring during the first year of life to evaluate if there is a correlation with outcome.

Methods: We retrospectively reviewed patients aged 1 to 12 months with at least one TS or TCS recorded with video-EEG between 2011 and 2021 in our Epilepsy Monitoring Unit. We analyzed the following electrographic features: seizure duration, presence and duration of focal ictal EEG onset, and post-ictal generalized EEG suppression (PGES).

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We explored the functional outcome following awake surgery and Real-Time Neuropsychological Testing (RTNT) in the left insula. We carried out a longitudinal investigation by comparing the patients' language profile, and, in particular, the object-naming skills and the associated fMRI network, of pre-surgery and follow-up (i.e.

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Update on Inherited Pediatric Motor Neuron Diseases: Clinical Features and Outcome.

Genes (Basel)

October 2024

Associazione "La Nostra Famiglia", IRCCS "E. Medea", Scientific Hospital for Neurorehabilitation, Unit for Severe Disabilities in Developmental Age and Young Adults, Developmental Neurology and Neurorehabilitation, 72100 Brindisi, Italy.

Background: Inherited pediatric motor neuron diseases (MNDs) are a group of neurodegenerative disorders characterized by the degeneration of motor neurons in the brain and the spinal cord. These diseases can manifest as early as infancy and originate from inherited pathogenic mutations in known genes. Key clinical features of MNDs include muscle weakness, hypotonia, and atrophy due to the degeneration of lower motor neurons or spasticity, hypertonia, and hyperreflexia caused by upper motor neuron dysfunction.

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Article Synopsis
  • The study aimed to evaluate the risk of developing anemia in older Danish individuals (aged 65 and above) who used low-dose aspirin (LDA) for cardiovascular prevention between 2008 and 2013.
  • Using Danish health registers, researchers tracked over 313,000 participants and found that LDA users had a significantly higher incidence of both hematinic deficiency (9.6%) and anemia (5.9%) compared to non-users.
  • The results suggest that approximately 6 to 10 out of every 100 older adults using LDA may develop anemia within the first five years of treatment, highlighting the risks associated with LDA usage in this demographic.
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Ictal and Postictal Central Apnea in -Related Epilepsy.

Neurol Genet

October 2024

From the Department of Biomedical Metabolic Sciences and Neurosciences (S.M., M.B., E.M., A.E.V.), University of Modena and Reggio Emilia; Neurophysiology Unit and Epilepsy Centre (S.M., M.B., G.G., M.P., A.E.V.), Neuroscience Department, Modena AOU; Epilepsy Unit (G.M.D., A.D., E.O., P.B.), IRCCS E. Medea Scientific Institute, Conegliano; Neurophysiology Unit and Epilepsy Centre (E.M.), IRCCS Ospedale Policlinico San Martino, Genoa; and Laboratory of Molecular Genetics (F.M.), IRCCS E. Medea Scientific Institute, Bosisio Parini, Lecco, Italy.

Article Synopsis
  • Study examines the risk of sudden unexpected death in epilepsy patients related to ictal central apnea (ICA) occurrences and features.
  • Data from 108 patients with focal epilepsy were reviewed, who underwent extensive monitoring including video-EEG and genetic testing; 5 patients had pathogenic mutations detected.
  • Results indicate a significant correlation between ICA and genetic variants, highlighting the importance of respiratory monitoring and genetic evaluation in focal epilepsy cases with unknown causes.
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Sensory features are included in the diagnostic criteria of autism and atypical sensory responsiveness may produce "cascading effects" on later development. Similarly, autistic individuals often struggle with motor coordination and early delays in the motor domain appear to be linked to later development. However, the longitudinal interrelation between early sensory profiles and motor features on later socio-communicative skills remains to be defined.

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Structural Maintenance of Chromosomes (SMC) complexes are an evolutionary conserved protein family. In most eukaryotes, three SMC complexes have been characterized, as follows: cohesin, condensin, and SMC5/6 complexes. These complexes are involved in a plethora of functions, and defects in SMC genes can lead to an increased risk of chromosomal abnormalities, infertility, and cancer.

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