A5029951909- Tuberous Sclerosis Complex Research
- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Polyomavirus and related diseases
- Genomic variations and chromosomal abnormalities
- Genetic and Kidney Cyst Diseases
- Pharmacological Effects and Toxicity Studies
- Autism Spectrum Disorder Research
- Histiocytic Disorders and Treatments
- Neuroscience and Neuropharmacology Research
- Medical Imaging and Pathology Studies
- Neonatal and fetal brain pathology
- Ion channel regulation and function
- Child Nutrition and Feeding Issues
- Fetal and Pediatric Neurological Disorders
- Mitochondrial Function and Pathology
- Chromosomal and Genetic Variations
- Pharmacology and Obesity Treatment
- Hemoglobinopathies and Related Disorders
- Infectious Encephalopathies and Encephalitis
- Neurofibromatosis and Schwannoma Cases
- Sleep and Wakefulness Research
- Language Development and Disorders
- Soft tissue tumor case studies
- Genetic Syndromes and Imprinting
Ospedale San Paolo
2014-2024
University of Milan
2012-2024
Azienda Socio Sanitaria Territoriale Santi Paolo e Carlo
2017-2023
Azienda Socio Sanitaria Territoriale Lariana
2020
Fondazione IRCCS Istituto Neurologico Carlo Besta
2020
University of Pavia
2020
Ospedale San Paolo
2016
Ospedale San Paolo
2011-2015
Neuropsychiatric disorders are present in up to 90 % of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobehavioral disease, affecting 61 patients. The aims this study were: 1) assess prevalence ASD a TSC population; 2) describe severity ASD; 3) identify potential risk factors associated development We selected 42 individuals over age 4 years definite diagnosis followed at clinic Northern...
Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated the development benign tumors in several organs. It also characterized by high rates neurological neuropsychiatric abnormalities, including epilepsy affecting 70–90% patients being one major risk factors intellectual disability. The first seizures TSC appear usually between 4th 6th months life. Recent studies have shown beneficial role preventative antiepileptic treatment patients,...
Prevalence and long-term outcome of epilepsy in tuberous sclerosis complex (TSC) is reported to be variable, the reasons for this variability are still controversial.We reviewed clinical characteristics patients with TSC who were regularly followed since 2000 at San Paolo Multidisciplinary Tuberous Sclerosis Centre Milan, Italy. From patient charts we collected data about age onset, seizure frequency type, history infantile spasms (IS), epileptic syndrome, evolution refractory or freedom...
Summary Purpose: To classify the grade of antiepileptic drug (AED) resistance in a cohort patients with focal epilepsies, to recognize risk factors for AED resistance, and estimate helpfulness “new‐generation” AEDs. Methods: We included 1,155 adults epilepsies who were observed consecutively after 1990 followed regularly at two epilepsy centers. systematically collected clinical, diagnostic, therapeutic data using custom‐written database. classified as seizure‐free or resistant according...
Tuberous Sclerosis Complex (TSC) is generally characterized by the presence of benign tumors, but some patients with malignancies have been reported in literature. We examined a large Italian TSC population (240 individuals followed from 2001 to 2015, aged 3 months–74 years), assessing frequency determine whether there an increased risk for cancer this disorder, and looking possible features associated development neoplasia. Fifteen had (6.25%); median age at diagnosis was 37.5 years (range...
The characteristics of 1,124 consecutive adults and children with refractory epilepsy attending 11 tertiary referral centers in Italy were investigated at enrollment into a prospective observational study. Among 933 (age 16-86 years), the most common syndromes symptomatic (43.7%) cryptogenic (39.0%) focal epilepsies, followed by idiopathic (8.1%) cryptogenic/symptomatic generalized (6.2%) epilepsies. syndrome among 191 was (35.1%), (18.8%), (18.3%), undetermined whether or (16.8%), (7.3%)....
Abstract Rett syndrome (RTT) is a rare neurodevelopmental disorder, linked to MECP2 gene mutations in the majority of cases, which results severe disability and associated with several comorbidities. The clinical condition RTT patients tends stabilize over time, prolonged survival has recently been demonstrated. However, limited information available on long‐term course older RTT, especially among those Southern Europe. aim our study evaluate main features state health adult Italian present...
ObjectiveWe aimed to evaluate epidemiology, seizure type, EEG, and etiology of neonatal seizures (NS) in a tertiary intensive care unit.MethodsData on infants with neurophysiological confirmation NS were collected between 2009 2022. Seizure types epileptic syndromes classified by the ILAE classification EEG Italian Neonatal Collaborative Network (INNESCO) score.ResultsOut 91,253 neonates, 145 presented NS; 69.7 % born at term 30.3 preterm infants. The incidence neonates our center was 1.2...
Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with rare syndrome characterized by typical seizure phenotype, particular electroclinical pattern, cognitive impairment, behavioural problems and absence of consistent pattern dysmorphology. The pathogenic mechanism underlying seizures disorders in r(20) still unknown. We performed detailed clinical genetic study on 8 patients chromosome, aimed at detecting the syndrome. submitted subjects previous diagnosis chromosome...
ABSTRACT Patients with Down syndrome are now living longer and the overall prevalence of epilepsy is increasing, however, full characterisation in adult age still incomplete. We describe electroclinical characteristics 22 patients (11 males, 11 females), a mean 46 years (range: 28‐64 years), followed at Epilepsy Centre, San Paolo Hospital Milan. Mean onset was 36.8 6‐60 years). Nine out had focal epilepsy, while nine late‐onset myoclonic epilepsy. In four patients, unclassified. The EEG...
The advent of pharmacological therapies for lymphangioleiomyomatosis (LAM) has made early diagnosis important in women with tuberous sclerosis complex (TSC), although the lifelong cumulative radiation exposure caused by chest computer tomography (CT) should not be underestimated. We retrospectively investigated, a cohort TSC outpatients San Paolo Hospital (Milan, Italy) 1) role pulmonary function tests (PFTs) LAM diagnosis, 2) association between and other features (e.g. demography,...
Abstract Background Tuberous Sclerosis Complex (TSC) and Neurofibromatosis type 1 (NF1) are neurocutaneous disorders commonly characterized by neuropsychiatric comorbidities. The TAND (Tuberous Associated Neuropsychiatric Disorders) Checklist is currently used to quickly screen for behavioural, psychiatric, intellectual, academic, neuropsychological psychosocial manifestations in patients with TSC. We administered the authorized Italian version of parents 42 TSC age- sex-matched NF1...
To estimate the association between myocardial fatty foci (MFF) on chest computed tomographic (CT) images and type of gene mutation or multiorgan involvement in patients with tuberous sclerosis complex (TSC).This retrospective case-control study was approved by ethics committee, which waived need for patient consent. Forty-eight definite TSC (41 women; mean age, 35 years ± 11 [standard deviation]) 96 age- sex-matched without who had undergone CT were evaluated. Two blinded readers...
The impact of educational strategies in the management adverse treatment effects and drug interactions adult patients with epilepsy comorbidities remains undetermined.The EDU-COM study is a randomised, pragmatic trial investigating effect patient-tailored plan comorbidity.174 chronic comorbidities, multiple-drug therapy reporting at least one and/or interaction entry were randomly assigned to or usual care. primary endpoint was number becoming free from events after 6-month follow-up....
Individuals with comorbidities are at higher risk of coronavirus disease 2019 (COVID-19) and worse outcome, but little information has been available about patients genetic diseases COVID-19. This study aims evaluating the presence outcome COVID-19 in a cohort Italian tuberous sclerosis complex (TSC) and/or lymphangioleiomyomatosis (LAM), reviewing possible effects mTOR inhibitors on SARS-CoV-2 infection. We included 102 unselected individuals diagnosis TSC LAM assessed between January 1,...