Veronica Saletti
A5081693079- Neurofibromatosis and Schwannoma Cases
- Spinal Dysraphism and Malformations
- Cerebrospinal fluid and hydrocephalus
- Genetics and Neurodevelopmental Disorders
- Sarcoma Diagnosis and Treatment
- Vascular Malformations Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Genomic variations and chromosomal abnormalities
- Meningioma and schwannoma management
- Neuroblastoma Research and Treatments
- Congenital heart defects research
- Glioma Diagnosis and Treatment
- Moyamoya disease diagnosis and treatment
- Congenital Anomalies and Fetal Surgery
- Assisted Reproductive Technology and Twin Pregnancy
- Tuberous Sclerosis Complex Research
- Head and Neck Surgical Oncology
- Neurological Complications and Syndromes
- Vascular Malformations and Hemangiomas
- Neonatal and fetal brain pathology
- Teratomas and Epidermoid Cysts
- Epilepsy research and treatment
- Intracranial Aneurysms: Treatment and Complications
- Spinal Fractures and Fixation Techniques
- EEG and Brain-Computer Interfaces
Foundation Center
2025
Fondazione IRCCS Istituto Neurologico Carlo Besta
2015-2024
University of Milan
2020
Azienda Socio Sanitaria Territoriale Lariana
2020
AOL (United States)
2020
Ospedale San Paolo
2020
Adult Congenital Heart Association
2015
Osaka City University
2015
Shimane University
2015
Istituti di Ricovero e Cura a Carattere Scientifico
2009
Neurofibromatosis type 1 (NF1), a common genetic disorder with birth incidence of 1:2,000–3,000, is characterized by highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and single amino acid deletion p.Met922del. Both variants predispose to distinct mild phenotype neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report...
Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. aim to improve awareness the phenotype available diagnostic therapeutic strategies reduce delayed diagnosis or misdiagnosis, optimize management, understanding pathophysiologic mechanisms.Forty-three individuals SRD were identified from 23 international medical centers. The treatment...
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating hotspots in the University of Alabama Birmingham (UAB) cohort, together identified 1.8% unrelated individuals. About 25% (95% confidence interval: 20.5–31.2%) heterozygous for p.Lys1423 had Noonan-like phenotype, which is significantly more compared with "classic" NF1-affected cohorts (all p < .0001). Furthermore, p.Arg1276 and variants were...
IFIH1 gain-of-function has been reported as a cause of type I interferonopathy encompassing spectrum autoinflammatory phenotypes including Aicardi–Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through European North American collaboration, we set out to describe the molecular, clinical interferon status cohort individuals with pathogenic heterozygous mutations in IFIH1. We identified 74 from 51 families segregating total 27 likely Ten adult individuals, 13.5% all...
PurposeNeurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated mild phenotype without any externally visible tumors.MethodsA total of 135 from 103 unrelated families, carrying constitutional p.Met992del pathogenic variant and clinically assessed using...
<b><i><i>Background:</i></i></b> Cognitive impairment occurs after malignant brain tumor treatment in children, following radiotherapy and systemic intrathecal chemotherapy. <b><i><i>Objectives:</i></i></b> 1) To compare two groups of children who underwent surgery for cerebellar medulloblastoma with their cousins siblings, assessing intelligence, executive function, attention, visual perception, short-term memory. Both were treated the same combined radiotherapy–chemotherapy, but differed...
Abstract Background Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study to achieve consensus on the diagnosis CM1 in children. Methods A multidisciplinary panel formulated 57 provisional statements based review literature. Thirty-four international experts (IE) participated Delphi by independently rating each statement 4-point Likert scale (“strongly disagree,” “disagree,” “agree,” “strongly agree”)....
Postzygotic activating PIK3CA variants cause several phenotypes within the PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored these factors in 150 novel patients an expanded cohort of 1007 PIK3CA-mutated patients, analysing our new data with previous literature to give a comprehensive picture.We performed ultradeep targeted next-generation sequencing (NGS)...
OBJECTIVE This study investigated whether the selection of different dural substitutes and distinct repair techniques correlates with incidence rate postoperative CSF leak in a mixed population adults children Chiari type I malformation (CM-I) who underwent posterior fossa decompression enlargement duraplasty (PFDD) as first surgical approach. METHODS A retrospective analysis was conducted on all patients admitted to authors’ institution between 2006 2023 for PFDD treat syringomyelia and/or...
The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among autosomal recessive lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes. Homozygous associated two distinct phenotypes: progressive epilepsy mental retardation (EPMR), first identified Finland; a variant late-infantile NCL (v-LINCL) described subset Turkish Italian patients. function protein encoded by is...
Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterized by cerebral calcification, leukodystrophy, and increased expression of interferon-stimulated genes (ISGs). Up to now, seven (TREX1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR1, SAMHD1, IFIH1) have been associated with an AGS phenotype. Next Generation Sequencing (NGS) analysis was performed on 51 patients interferon signature (IS) investigated in 18 31 healthy controls. NGS identified mutations 48...
Lombardy was severely hit by the COVID-19 pandemic since February 2020 and Health System underwent rapid reorganization. Outpatient clinics were stopped for non-urgent patients: it became a priority to manage hundreds of fragile neurological patients who suddenly had less reference points. In Italy, before pandemic, Televisits neither recognized nor priced. At Fondazione IRCCS Istituto Neurologico C. Besta, we reorganized outpatient deliver Neuro-telemedicine services, including...
Most published neuropsychologic studies on frontal lobe epilepsy have been performed mixed groups of adults and adolescents with epilepsies varying etiology. The cognitive profile in children has not defined. purpose this study was to assess performance epilepsy. Intelligence executive functions were examined eight (age 6 7 /12 years 13 11 years) Performance related the focus side, seizure frequency, age onset. Frontal associated a range dysfunctions, but IQ generally spared. Left deficits...
Abstract Genetic analysis of Neurofibromatosis type 1 ( NF 1) may facilitate the identification patients in early phases disease. Here, we present an overview our diagnostic research spanning last 11 years, with a focus on description 225 mutations, 126 which are novel, found series 607 (513 unrelated) Italy. Between 2003 and 2013, 443 unrelated were profiled by denaturing high pressure liquid chromatography DHPLC ) 60 amplicons derived from genomic DNA subsequent sequencing heterozygotic...