267 results match your criteria: "Scientific Institute IRCCS Eugenio Medea[Affiliation]"
Front Pediatr
November 2024
NeuroImaging Lab, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
Acta Paediatr
December 2024
Department of Clinical Medicine, University of Turku, Turku, Finland.
J Med Genet
November 2024
Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCSS, Florence, Italy
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.
Drug Des Devel Ther
November 2024
Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, LC, Italy.
Trofinetide is a first-in-class pharmacological treatment proposed for patients with Rett Syndrome. It is a long half-life derivative of glycine-proline-glutamate, the tripeptide normally excided from Insulin-like Growth Factor 1 upon degradation. Due to containing glutamate and glycine in its structure, trofinetide is thought to act through NMDA receptor modulation, thus providing a normalization of neuronal activity and survival.
View Article and Find Full Text PDFEur Child Adolesc Psychiatry
November 2024
Clinic for Child and Adolescent Psychiatry, Psychotherapy and Psychosomatic Medicine, University Hospital Muenster, Schmeddingstrasse 50, 48149, Muenster, Germany.
The aim of this study was to examine the neurocognitive deficits associated with the first episode of major depressive disorder (recent onset depression, ROD) in adolescents as compared to adult patients. Cross-sectional neurocognitive data from the baseline assessments of the PRONIA study with N = 650 (55.31% females) were analyzed.
View Article and Find Full Text PDFBrain
November 2024
Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy.
Acta Paediatr
October 2024
0-3 Center for the At-Risk Infant, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini (Lecco), Italy.
Children (Basel)
September 2024
Department of Life and Health Sciences, and Health Professions, Link Campus University, Via del Casale di S. Pio V, 44, 00165 Rome, Italy.
Background/objectives: Rett syndrome is a rare neurodevelopmental disorder that can severely affect motor functioning, particularly walking. Previous training programs proposed treadmills as tools to increase walking endurance of patients with Rett syndrome, but these trainings did not include virtual reality (VR). The aim of this study was to assess the feasibility of a short treadmill training coupled to VR in girls with Rett syndrome.
View Article and Find Full Text PDFCurr Oncol
September 2024
Pediatric Oncohematology, Stem Cell Transplantation and Cell Therapy Division, A.O.U. Città della Salute e della Scienza-Regina Margherita Children's Hospital, 10126 Turin, Italy.
Children/adolescents with cancer can develop adverse effects impacting gross motor function. There is a lack of gross motor function assessment tools that have been validated for this population. The aim of this multicenter cross-sectional study was to preliminary validate the 88-item Gross Motor Function Measure (GMFM-88) for use in children/adolescents with cancer, exploring internal consistency and floor/ceiling effect.
View Article and Find Full Text PDFNeuroimage Clin
September 2024
Clinical Neurology, Azienda Sanitaria Universitaria Friuli Centrale, Presidio Ospedaliero Santa Maria della Misericordia, Udine, Italy; Neurology Unit, Department of Medicine (DMED), University of Udine, Italy.
Fatigue, defined as a subjective lack of physical and/or mental energy, is a clinical symptom highly characterizing multiple sclerosis (MS). The present study utilized a novel approach to the study of fatigue, examining first person-mental imagery of the symptom. Eighteen right-handed patients with MS (14F, 4 M, mean age 45.
View Article and Find Full Text PDFSchizophr Res
September 2024
Department of Neurosciences and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:
JMIR Form Res
July 2024
Child Psychopathology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
Genes (Basel)
June 2024
Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, 70125 Bari, Italy.
J Affect Disord
October 2024
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; Department of Neurosciences and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:
Background: Strategies of prevention for psychiatric disorders need a deep understanding of the aetiological factors involved in the psychopathological processes. Our twin study aims at disentangling the contributions of genes and environment to schizotypal and hypomanic dimensions, considering the role of stressful life events (LEs) and the quality of family relationships.
Methods: The Magical Ideation Scale (MIS) and Perceptual Aberration Scale (PAS) were used to assess positive schizotypy, while Hypomanic Personality Scale (HPS) and its sub-scales were used to investigate proneness to affective disorders.
Bioengineering (Basel)
June 2024
Neuroimaging Unit, Scientific Institute IRCCS Eugenio Medea, 23842 Bosisio Parini, Lecco, Italy.
Muscular dystrophies present diagnostic challenges, requiring accurate classification for effective diagnosis and treatment. This study investigates the efficacy of deep learning methodologies in classifying these disorders using skeletal muscle MRI scans. Specifically, we assess the performance of the Swin Transformer (SwinT) architecture against traditional convolutional neural networks (CNNs) in distinguishing between healthy individuals, Becker muscular dystrophy (BMD), and limb-girdle muscular Dystrophy type 2 (LGMD2) patients.
View Article and Find Full Text PDFBehav Brain Funct
June 2024
Neuroimaging Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini (LC), Italy.
Background: An intronic deletion within intron 2 of the DCDC2 gene encompassing the entire READ1 (hereafter, READ1d) has been associated in both children with developmental dyslexia (DD) and typical readers (TRs), with interindividual variation in reading performance and motion perception as well as with structural and functional brain alterations. Visual motion perception -- specifically processed by the magnocellular (M) stream -- has been reported to be a solid and reliable endophenotype of DD. Hence, we predicted that READ1d should affect neural activations in brain regions sensitive to M stream demands as reading proficiency changes.
View Article and Find Full Text PDFPaediatr Perinat Epidemiol
September 2024
Department of Population Health Sciences, George Davies Centre, University of Leicester, Leicester, UK.
Background: Preterm birth (before 37 completed weeks of gestation) is associated with an increased risk of adverse health and developmental outcomes relative to birth at term. Existing guidelines for data collection in cohort studies of individuals born preterm are either limited in scope, have not been developed using formal consensus methodology, or did not involve a range of stakeholders in their development. Recommendations meeting these criteria would facilitate data pooling and harmonisation across studies.
View Article and Find Full Text PDFPLoS One
May 2024
Unit of Epidemiological and Evaluation Psychiatry, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Introduction: The RISKMet project aims to: (1) identify risk factors for metabolic syndrome (MetS) by comparing patients with and without MetS; (2) characterise patients treated with second-generation antipsychotics (SGAs) about MetS diagnosis; (3) study behavioural patterns, including physical activity (PA) and dietary habits, in patients and healthy individuals using a prospective cohort design.
Method: The RISKMet project investigates MetS in individuals treated with SGAs, focusing on both adult and paediatric populations. The study utilizes a case-control design to examine potential risk factors for MetS, categorizing participants as MetS+ considered as "Cases" and MetS- considered as "Controls" matched by sex and age.
BMC Psychol
April 2024
Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
Background: The COVID-19 pandemic substantially affected the lives of persons with inherited neuromuscular disorders (INMD), causing disruption in clinical and support services. While several studies have investigated mental health, distress and psychosocial resources in the general population during the pandemic, little is known about the experience of persons with INMD.
Methods: This study was aimed to fill this gap by jointly investigating both psychopathological symptoms and psychosocial resources - specifically, resilience and perceived social support - among persons with INMD during the pandemic, taking into account demographic and clinical factors.
Neuroimage
April 2024
NeuroImaging Lab, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
Fetal brain development is a complex process involving different stages of growth and organization which are crucial for the development of brain circuits and neural connections. Fetal atlases and labeled datasets are promising tools to investigate prenatal brain development. They support the identification of atypical brain patterns, providing insights into potential early signs of clinical conditions.
View Article and Find Full Text PDFJ Neuromuscul Dis
April 2024
Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
Background: Duchenne Muscular Dystrophy (DMD) is a genetic disease in which lack of the dystrophin protein causes progressive muscular weakness, cardiomyopathy and respiratory insufficiency. DMD is often associated with other cognitive and behavioral impairments, however the correlation of abnormal dystrophin expression in the central nervous system with brain structure and functioning remains still unclear.
Objective: To investigate brain involvement in patients with DMD through a multimodal and multivariate approach accounting for potential comorbidities.
Children (Basel)
March 2024
Scientific Institute IRCCS Eugenio Medea, 23842 Bosisio Parini, Italy.
Traumatic brain injury is often accompanied by defects in hormone levels, caused by either peripheral gland dysfunctions or by an insufficient central stimulation of hormone production. The epidemiology of endocrinological defects after traumatic brain injury is quite well described, but the consequences of hormone defects are largely unknown, especially in paediatric patients undergoing neurological rehabilitation. Only one previous study reported on a cohort of 20 children with traumatic brain injury and found a low incidence of hormone defects and a correlation between some hormone levels and neurological recovery.
View Article and Find Full Text PDFBioengineering (Basel)
March 2024
Department of Electronics Information Technology and Bioengineering, Politecnico di Milano, 20133 Milan, Italy.
Cerebral palsy poses challenges in walking, necessitating ankle foot orthoses (AFOs) for stability. Gait analysis, particularly on slopes, is crucial for effective AFO assessment. The study aimed to compare the performance of commercially available AFOs with a new sports-specific AFO in children with hemiplegic cerebral palsy and to assess the effects of varying slopes on gait.
View Article and Find Full Text PDFNMR Biomed
August 2024
Neuroimaging Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
Complementary aspects of tissue microstructure can be studied with diffusion-weighted imaging (DWI). However, there is no consensus on how to design a diffusion acquisition protocol for multiple models within a clinically feasible time. The purpose of this study is to provide a flexible framework that is able to optimize the shell acquisition protocol given a set of DWI models.
View Article and Find Full Text PDFMol Psychiatry
July 2024
Department of Neurosciences and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Prenatal and perinatal complications represent well-known risk factors for the future development of psychiatric disorders. Such influence might become manifested during childhood and adolescence, as key periods for brain and behavioral changes. Internalizing and externalizing behaviors in adolescence have been associated with the risk of psychiatric onset later in life.
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