674 results match your criteria: "Scientific Institute "Eugenio Medea"[Affiliation]"

Hemiparesis as a term refers to a neurological disorder that can be extremely variable, especially with regard to walking abilities. Few works have assessed the use of virtual reality and biofeedback in children and adolescents with hemiparesis. The aim of this study is to provide insights about the rehabilitation of hemiparetic children and teenagers with visual biofeedback in a virtual reality environment.

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RACK1 is evolutionary conserved in satellite stem cell activation and adult skeletal muscle regeneration.

Cell Death Discov

November 2022

Department for Innovation in Biological, Agro-food and Forest systems (DIBAF), Università degli Studi della Tuscia, largo dell'Università snc, 01100, Viterbo, Italy.

Skeletal muscle growth and regeneration involves the activity of resident adult stem cells, namely satellite cells (SC). Despite numerous mechanisms have been described, different signals are emerging as relevant in SC homeostasis. Here we demonstrated that the Receptor for Activated C-Kinase 1 (RACK1) is important in SC function.

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Purpose: In awake surgery, the patient is sedated, but is also required to be sufficiently alert and collaborative during extensive neurocognitive testing. In the present preliminary report of a retrospective single-center study, a continuous series of 168 patients who underwent awake surgery for brain tumor located near eloquent areas, was investigated to observe the effect of dexmedetomidine (n = 58) compared with propofol (n = 110) on vigilance and collaboration required to perform extensive intra-operatory Real Time Neuropsychological Testing (RTNT).

Methods: We assigned a score to each patient, by using a scale that combines vigilance and collaboration in a 5 levels score (the higher score denoting higher level).

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Analysis of Running Gait in Children with Cerebral Palsy: Barefoot vs. a New Ankle Foot Orthosis.

Int J Environ Res Public Health

October 2022

Department of Electronics Information Technology and Bioengineering, Politecnico di Milano, 20133 Milan, Italy.

Running is an essential activity for children with cerebral palsy (CP). This study aims to characterize the locomotor pattern of running in hemiplegic children with new generation ankle foot orthosis (AFOs) conceived to foster intense motor activities such as running. A group of 18 children with spastic hemiplegia was recruited.

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Shared genetic influences between depression and conduct disorder in children and adolescents: A systematic review.

J Affect Disord

February 2023

Department of Biological & Experimental Psychology, School of Biological & Behavioural Sciences, Queen Mary University of London, UK; Department of Psychiatry & Biobehavioral Sciences, Semel Institute for Neuroscience & Human Behavior, University of California Los Angeles, USA. Electronic address:

Introduction: The co-occurrence between major depression disorder (MDD) and conduct disorder (CD) is common across development and represents a significant risk factor for future psychiatric problems and long-term impairment. Large-scale quantitative genetic studies suggest that the MDD-CD co-occurrence may be partly explained by shared genetic vulnerability factors, in line with transdiagnostic models of psychopathology, but no systematic synthesis of the literature is currently available.

Methods: We therefore conducted a systematic review of the available genetic literature on the co-occurrence between MDD and CD in children and adolescents.

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Neural entrainment is defined as the process whereby brain activity, and more specifically neuronal oscillations measured by EEG, synchronize with exogenous stimulus rhythms. Despite the importance that neural oscillations have assumed in recent years in the field of auditory neuroscience and speech perception, in human infants the oscillatory brain rhythms and their synchronization with complex auditory exogenous rhythms are still relatively unexplored. In the present study, we investigate infant neural entrainment to complex non-speech (musical) and speech rhythmic stimuli; we provide a developmental analysis to explore potential similarities and differences between infants' and adults' ability to entrain to the stimuli; and we analyze the associations between infants' neural entrainment measures and the concurrent level of development.

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Article Synopsis
  • The study investigates spinal cord damage in Friedreich's ataxia (FRDA) using MRI data from a large cohort, revealing significant reductions in cervical spinal cord cross-sectional area compared to controls.
  • There is a strong correlation between decreased cross-sectional area and disease severity, while despite increased eccentricity, it does not correlate with clinical symptoms.
  • The findings suggest that damage in the dorsal column and corticospinal tract progresses differently in FRDA, indicating that cross-sectional area could serve as a potential biomarker for monitoring disease progression.
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Children with cerebral palsy (CP) suffer deficits in their motor, sensory, and cognitive abilities, as well as in their visuospatial competences. In the last years, several authors have tried to correlate the visuospatial abilities with the navigational ones. Given their importance in everyday functions, navigation skills have been deeply studied using increasingly cutting-edge techniques such as virtual reality (VR).

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To understand the role of experience in parenting beliefs about caring for infants, we examined the parenting beliefs of pregnant women who were expecting their first child with those of pregnant women who already had at least one other child. A culturally diverse sample of 550 British and Italian women completed self-report measures evaluating their beliefs about the value of attunement and structure in caregiving, parenting self-efficacy, and home chaos. Psychometric evaluation confirmed the two-factor structure of the Baby Care Questionnaire (BCQ) for measuring attunement and structure but did not support configural invariance across the different samples.

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Purpose: Triple X syndrome, is an often undiagnosed chromosomal abnormality with an incidence of 1/1000 females. Main associated disorders are urogenital malformations, premature ovarian failure or primary amenorrhea, gastrointestinal problems, psychiatric disorders and epilepsy. To date, triple X is not related to a specific epileptic syndrome.

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As the interest in the beneficial effects of positive touch experiences is rapidly growing, having reliable and valid tools to its assessment is essential. The Tactile Biography Questionnaire (TBQ) allows to quantify individual differences in affective touch experiences throughout life. The aim of this article is to present a contribution to its validation in the Italian population.

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Objective: Perampanel (PER) is indicated as adjunctive antiseizure medication (ASM) in adolescents and adults with epilepsy. Data from clinical trials show good efficacy and tolerability, while limited information is available on the routine clinical use of PER, especially when used as only add-on treatment.

Methods: We performed an observational, retrospective, multicenter study on people with focal or generalized epilepsy aged >12 years, consecutively recruited from 52 Italian epilepsy centers.

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Article Synopsis
  • A 5-year-old girl with a de novo homogeneous deletion of chromosome 18q was diagnosed at birth, presenting symptoms such as hypotonia, short stature, psychomotor retardation, and deafness due to ear canal anomalies.
  • Genetic analysis revealed a complex 18q deletion involving segmental mosaicism, indicating a combination of varying copy numbers of chromosome segments in different cells.
  • The findings suggest that the observed chromosomal abnormalities likely resulted from complications during cell division in early embryonic development, specifically involving a mirror chromosome mechanism, and emphasize the clinical significance of these genetic variations on development.
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EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.

Clin Neurophysiol

October 2022

Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy; Department of Biomedical and Clinical Sciences, L. Sacco, University of Milan, Italy. Electronic address:

Objective: Descriptions of electroencephalographic (EEG) patterns in Aicardi syndrome (AIC) have to date referred to small cohorts of up to six cases and indicated severe derangement of electrical activity in all cases. The present study was conducted to describe the long-term EEG evolution in a larger AIC cohort, followed for up to 23 years, and identify possible early predictors of the clinical and EEG outcomes.

Methods: In a retrospective study, two experienced clinical neurophysiologists systematically reviewed all EEG traces recorded in 12 AIC cases throughout their follow-up, from epilepsy onset to the present.

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Duchenne muscular dystrophy (DMD) is a rare genetic disease leading to progressive muscle wasting, respiratory failure, and cardiomyopathy. Although muscle fibrosis represents a DMD hallmark, the organisation of the extracellular matrix and the molecular changes in its turnover are still not fully understood. To define the architectural changes over time in muscle fibrosis, we used an mdx mouse model of DMD and analysed collagen and glycosaminoglycans/proteoglycans content in skeletal muscle sections at different time points during disease progression and in comparison with age-matched controls.

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A bidirectional relationship exists between hypertension and psychiatric disorders, including unipolar and bipolar depression, anxiety, post-traumatic stress disorder (PTSD), psychosis, schizophrenia, mania, and dementia/cognitive decline. Repurposing of antihypertensive drugs to treat mental disorders is thus being explored. A systematic knowledge of the mechanisms of action and clinical consequences of the use of antihypertensive agents on neuropsychiatric functions has not been achieved yet.

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DBB - A Distorted Brain Benchmark for Automatic Tissue Segmentation in Paediatric Patients.

Neuroimage

October 2022

NeuroInformatics Laboratory (NILab), Bruno Kessler Foundation (FBK), Trento, Italy; Center for Mind and Brain Sciences (CIMeC), University of Trento, Italy.

T1-weighted magnetic resonance images provide a comprehensive view of the morphology of the human brain at the macro scale. These images are usually the input of a segmentation process that aims detecting the anatomical structures labeling them according to a predefined set of target tissues. Automated methods for brain tissue segmentation rely on anatomical priors of the human brain structures.

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KETASER01 protocol: What went right and what went wrong.

Epilepsia Open

September 2022

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.

Objective: To discuss the results of the KETASER01 trial and the reasons for its failure, particularly in view of future studies.

Methods: KETASER01 is a multicenter, randomized, controlled, open-label, sequentially designed, non-profit Italian study that aimed to assess the efficacy of ketamine compared with conventional anesthetics in the treatment of refractory convulsive status epilepticus (RCSE) in children.

Results: During the 5-year recruitment phase, a total of 76 RCSEs treated with third-line therapy were observed in five of the 10 participating Centers; only 10 individuals (five for each study arm; five females, mean age 6.

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Article Synopsis
  • Theory of Mind (ToM) helps us understand how other people feel and what they think.
  • Scientists studied how our brains react when we focus on someone else's emotions versus their body sensations while people were in a special scanner.
  • They found that thinking about body sensations activates a specific area of the brain, which shows it affects how we see ourselves in relation to others.
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The inositol 1,4,5-triphosphate receptor type 1 () gene encodes an InsP-gated calcium channel that modulates intracellular Ca release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the gene are associated with different types of autosomal dominant spinocerebellar ataxia: SCA15 (adult onset), SCA29 (early-onset), and Gillespie syndrome. Cerebellar atrophy/hypoplasia is invariably detected, but a recognizable neuroradiological pattern has not been identified yet.

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The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?

Eur J Med Genet

August 2022

Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. Electronic address:

De novo distal deletions are structural variants considered to be already present in the zygote. However, investigations especially in the prenatal setting have documented that they are often in mosaic with cell lines in which the same deleted chromosome shows different types of aberrations such as: 1) neutral copy variants with loss of heterozygosity that replace the deleted region with equivalent portions of the homologous chromosome and create distal uniparental disomy (UPD); 2) derivative chromosomes where the deleted one ends with the distal region of another chromosome or has the shape of a ring; 3) U-type mirror dicentric or inv-dup del rearrangements. Unstable dicentrics had already been entailed as causative of terminal deletions even when no trace of the reciprocal inv-dup del had been detected.

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Cortical activation and motor body representations in a patient with subacute sclerosing panencephalitis.

Neuropsychologia

August 2022

Clinical Neurology, Azienda Sanitaria Universitaria Friuli Centrale, Presidio Ospedaliero Santa Maria della Misericordia, Udine, Italy; Neurology Unit, Department of Medicine (DAME), University of Udine, Italy.

The current neuroimaging study investigated the sensorimotor maps during hand, feet and lips movements at one year after diagnosis of of subacute sclerosing panencephalitis (SSPE) in a 17 years-old patient. A lesion prediction algorithm showed that the posterior thalamic radiations, the splenium of the corpus callosum, the posterior and superior corona radiate, and the cingolum, showed a high lesion probability. Comparing the fMRI activations of the left and right hemisphere, we found that the representation of the left hand movement was more inferior/anterior and less represented than the representation of the right one; and the representation of the right foot movement was more superior, less represented than the representation of the left one and poorly activated at the predefined statistical threshold.

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Pesticides groundwater modelling relies on input data characterised by a high intrinsic variability: Is the resulting risk for groundwater credible?

Sci Total Environ

September 2022

International Centre for Pesticide and Health Prevention, L. Sacco University Hospital, via Giovanni Battista Grassi, 74, 20157 Milano, Italy. Electronic address:

In the framework of Regulation (EC) 1107/2009, concerning the placing of plant protection products (PPP) on the market, FOCUS models are used to predict active substances concentration in groundwater. The predicted environmental concentration in groundwater (PEC) are influenced by active substance specific parameters, namely DT, K and Freundlich coefficient (1/n), whose minimal variation in certain combinations of intervals significantly affects PEC output. Considering that minimal variation are intrinsic in all laboratory studies, this approach may lead to not acceptable variations in the results for regulatory purposes.

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