A5025121561- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Neonatal and fetal brain pathology
- Bipolar Disorder and Treatment
- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Functional Brain Connectivity Studies
- Parkinson's Disease Mechanisms and Treatments
- Advanced Neuroimaging Techniques and Applications
- Fetal and Pediatric Neurological Disorders
- Neurological disorders and treatments
- Cardiomyopathy and Myosin Studies
- Intracranial Aneurysms: Treatment and Complications
- Alzheimer's disease research and treatments
- Transcranial Magnetic Stimulation Studies
- Neonatal Respiratory Health Research
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Cerebrovascular and Carotid Artery Diseases
- Electroconvulsive Therapy Studies
- Genomics and Rare Diseases
- Cellular transport and secretion
- Parkinson's Disease and Spinal Disorders
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
Istituti di Ricovero e Cura a Carattere Scientifico
2001-2024
IRCCS Istituto Auxologico Italiano
2022-2024
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2014-2024
University of Milan
2012-2022
Ospedale Maggiore
2003-2022
IRCCS Policlinico San Donato
2021
Heliophysics
2019
Very preterm (VPT) infants admitted to Neonatal Intensive Care Unit (NICU) are at risk for altered brain growth and less-than-optimal socio-emotional development. Recent research suggests that early NICU-related stress contributes impairments in VPT 3 months through epigenetic regulation (i.e., DNA methylation) of the serotonin transporter gene (SLC6A4). In present longitudinal study we assessed: (a) effects SLC6A4 methylation variations from birth discharge on development term equivalent...
Reporting new cases of enterovirus (EV)-D68-associated acute flaccid myelitis (AFM) is essential to understand how the virus causes neurological damage and characterize EV-D68 strains associated with AFM.A previously healthy 4-year-old boy presented sudden weakness limited mobility in his left arm. Two days earlier, he had an upper respiratory illness mild fever. At admission, physical examination showed that child was febrile (38.5 °C) alert but a stiff neck arm, which hypotonic areflexic....
No treatments are approved for Becker muscular dystrophy (BMD). This study investigated the efficacy and safety of givinostat, a histone deacetylase pan-inhibitor, in adults with BMD.Males aged 18-65 years diagnosis BMD confirmed by genetic testing were randomized 2:1 to 12 months treatment givinostat or placebo. The primary objective was demonstrate statistical superiority over placebo mean change from baseline total fibrosis after months. Secondary endpoints included other histological...
Objectives: To determine the effectiveness of an early intervention program in enhancing visual function very preterm infants. Methods: We conducted a RCT. included infants born between 25+0 and 29+6 weeks gestational age (GA), without severe morbidities, their families. Infants were randomized to either receive Standard Care (SC) or Early Intervention (EI). SC, according NICU protocols, Kangaroo Mother minimal handling. EI included, addition routine care, parental training PremieStart...
Abstract Background Bipolar disorder (BD) may be characterized by the presence of psychotic symptoms and comorbid substance abuse. In this context, structural metabolic dysfunctions have been reported in both BD with psychosis addiction, separately. study, we aimed at identifying neural substrates differentiating BD, or without abuse, versus substance-induced (SIP) coupling, for first time, magnetic resonance imaging (MRI) positron emission tomography (PET). Methods Twenty-seven type I...
OBJECTIVE Recent trials have shown the safety and benefits of fetoscopic treatment myelomeningocele (MMC). The authors’ aim was to report their preliminary results prenatal MMC using a biocellulose patch, focusing on neurological outcomes, fetal maternal complications, neonatal CSF leakage, postnatal hydrocephalus, radiological outcomes. METHODS Preoperative assessment included clinical examination, ultrasound imaging, MRI fetus. Patients underwent purely in utero repair, followed by...
Background: The importance of predicting disease progression in multiple sclerosis (MS) has increasingly been recognized, and hence reliable biomarkers are needed. Objectives: To investigate the prognostic role cerebrospinal fluid (CSF) amyloid beta 1–42 (Aβ) levels by determination a cut-off value to classify patients slow fast progressors. evaluate possible association with white matter (WM) grey (GM) damage at early stages. Methods: Sixty were recruited followed up for 3–5 years. Patients...
The aim of this study was to evaluate the muscle MRI pattern 9 patients (median age: 6.5 ± 2.74 years) affected by classic infantile-onset Pompe disease who were treated with enzyme replacement therapy.We performed and qualitatively scored T1-weighted (T1-w) sequences facial, shoulder girdle, paravertebral, lower limb muscles short-tau inversion recovery (STIR) limbs using Mercuri Morrow scales, respectively.On T1-w images, mild (grade 1) or moderate 2) involvement found in tongue 6 adductor...
We describe the case of a 63-year-old woman who developed coronavirus disease 2019-associated acute encephalopathy with perivascular gadolinium enhancement.
Becker muscular dystrophy (BMD) is a relatively less investigated neuromuscular disease, partially overlapping the phenotype of Duchenne (DMD). Physiopathological and anatomical patterns are still not comprehensively known, despite recent effort in search early biomarkers. Aim this study was to selectively compare normal appearing muscles BMD with healthy controls.
<h3>Objective:</h3> To document perinatal events, brain imaging, neurophysiology and clinical outcome in term infants with early postnatal collapse (PNC). <h3>Design:</h3> Tertiary referral centre, retrospective case review (1993–2006). <h3>Patients:</h3> Infants born at ⩾36 weeks' gestation (<72 h) PNC. Peri-partum post-collapse data were collated clinical, electrophysiological, neuroimaging autopsy neurodevelopmental outcome. <h3>Results:</h3> Twelve studied; median 39 weeks (36–41),...
Background/Objective The loss or preservation of visual imagery in patients with cortical blindness may be helpful resolving the controversial roles assigned by some researchers to early cortex during process imagery. Patient and Methods Here we report a patient complete permanent coupled denial (Anton syndrome) as result bilateral occipital infarction. Results Interestingly, patient's ability visualize objects, color, spatial was preserved, although cerebral computed tomography, magnetic...
Background: Elderly bipolar disorder (BD) and behavioural variant of frontotemporal dementia (bvFTD) may exhibit similar symptoms both disorders are characterized by selective abnormalities in cortical subcortical regions that associated with cognitive emotional impairments. We aimed to investigate common distinct neural substrates BD bvFTD coupling, for the first time, magnetic resonance imaging (MRI) positron emission tomography (PET) techniques. Methods: 3-Tesla MRI 18...