Silvia Santoro
A5011323814- Multiple Sclerosis Research Studies
- RNA regulation and disease
- T-cell and B-cell Immunology
- Hereditary Neurological Disorders
- Bacterial Genetics and Biotechnology
- Neuroinflammation and Neurodegeneration Mechanisms
- interferon and immune responses
- Medical Imaging and Pathology Studies
- Salivary Gland Tumors Diagnosis and Treatment
- Ion channel regulation and function
- Cytokine Signaling Pathways and Interactions
- Bacterial biofilms and quorum sensing
- Systemic Lupus Erythematosus Research
- Neurological diseases and metabolism
- Oral and Maxillofacial Pathology
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Immunotherapy and Immune Responses
- Antibiotic Resistance in Bacteria
- Chromosomal and Genetic Variations
- Lung Cancer Diagnosis and Treatment
- Immune Cell Function and Interaction
- Evolution and Genetic Dynamics
- Mycobacterium research and diagnosis
- Food Allergy and Anaphylaxis Research
- Effects of Radiation Exposure
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2018-2024
Vita-Salute San Raffaele University
2015-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2018-2024
Neuroscience Institute
2022-2023
University of Milan
2021-2023
IRCCS Ospedale San Raffaele
2022
University of Parma
2010-2012
University of Pisa
2007
University of Palermo
1985
University of Messina
1985
We analyzed genetic data of 47,429 multiple sclerosis (MS) and 68,374 control subjects established a reference map the architecture MS that includes 200 autosomal susceptibility variants outside major histocompatibility complex (MHC), one chromosome X variant, 32 within extended MHC. used an ensemble methods to prioritize 551 putative genes implicate innate adaptive pathways distributed across cellular components immune system. Using expression profiles from purified human microglia, we...
Abstract: We assembled and analyzed genetic data of 47,351 multiple sclerosis (MS) subjects 68,284 control establish a reference map the architecture MS that includes 200 autosomal susceptibility variants outside major histocompatibility complex (MHC), one chromosome X variant, 32 independent associations within extended MHC. used an ensemble methods to prioritize up 551 potentially associated genes, implicate innate adaptive pathways distributed across cellular components immune system....
Itch is thought to represent the peculiar response stimuli conveyed by somatosensory pathways shared with pain through activation of specific neurons and receptors. It can occur in association dermatological, systemic neurological diseases, or be side effect certain drugs. However, some patients suffer from chronic idiopathic itch that frequently ascribed psychological distress for which no biomarker available date. We investigated three multigenerational families, one diagnosed joint...
A personalized approach is strongly advocated for treatment selection in Multiple Sclerosis patients due to the high number of available drugs. Machine learning methods proved be valuable tools context precision medicine. In present work, we applied machine identify a combined clinical and genetic signature response fingolimod that could support prediction drug response. Two cohorts fingolimod-treated from Italy France were enrolled divided into training, validation, test set. Random forest...
Resolving the genetic architecture of painful neuropathy will lead to better disease management strategies. We aimed develop a reliable method re-sequence multiple genes in large cohort patients at low cost. In this study, we compared sensitivity, specificity, targeting efficiency, performance and cost effectiveness Molecular Inversion Probes-Next generation sequencing (MIPs-NGS) TruSeq® Custom Amplicon-Next (TSCA-NGS). Capture probes were designed target nine sodium channel (SCN3A,...
The reliability of random fecal arantitrypsin (FA-l-AT) concentration has been evaluated by comparing FA-l-AT values on specimens and concomitant 24–72 h collections. In order to simplify the method, data derived from lyophilized samples were compared with those obtained 37°C heat-dried samples. Random was assayed in 80 children various gastrointestinal illnesses 36 healthy age-matched controls. There a close relationship between 1-day or 3-day also significant two different ways drying...
Characterize from both genetic and phenotypic standpoints the indigenous strains of Saccharomyces spp. associated with natural fermentation 'Malvasia delle Lipari'.A total 192 yeast isolates were obtained completed a mix Lipari' (92%) 'Corinto nero' (8%) grapes in two wineries Salina Island (Sicily, Italy). Fifty-one characterized using ITS-PCR, random amplified polymorphic DNA-PCR mitochondrial DNA restriction fragment length polymorphism 12 biotypes identified. Representative each biotype,...
To investigate the role of known multiple sclerosis (MS)-associated genetic variants in MS familial aggregation, clinical expression, and accuracy disease prediction sporadic cases.A total 1,443 consecutive patients were screened for autoimmune history a hospital-based Italian cohort. Among them, 461 93 probands genotyped 107 MS-associated polymorphisms. Their effect sizes combined to calculate weighted risk score (wGRS).Family was reported by 17.2% probands, 33.8% disorder, with thyroiditis...
Rehabilitation is fundamental for progressive multiple sclerosis (MS), but predictive biomarkers of motor recovery are lacking, making patient selection difficult. Motor depends on synaptic plasticity, in which the Brain-Derived Neurotrophic Factor (BDNF) a key player, through its binding to Neurotrophic-Tyrosine Kinase-2 (NTRK2) receptor. Therefore, genetic polymorphisms BDNF pathway may impact recovery. The most well-known polymorphism gene (rs6265) causes valine methionine substitution...
ABSTRACT Background Understanding the mechanisms underlying disease progression in Multiple Sclerosis (MS) is fundamental to pave way treatment advances. Smoldering demyelinating inflammation characterized by iron deposition observed at edges of chronic active lesions and represents a relevant substrate MS. However, influence genetic factors on these not known. Leveraging importance smoldering inflammation, we assessed whether variants genes belonging iron-related pathways affect Methods We...
<h3>Background and Objectives</h3> The major histocompatibility complex (MHC) locus has a predominant role in the genetic predisposition to multiple sclerosis (MS), with 32 associations found be involved. We aimed investigate impact of MHC MS-risk alleles on T-cell repertoire patients MS. <h3>Methods</h3> studied 161 untreated relapsing-remitting MS for whom Class I II human leukocyte antigen (HLA) were inferred from whole-genome genotyping data, receptor (TCR) CDR3 sequences obtained...
Domperidone is used as an immunomodulatory drug for Leishmania infantum infection and disease in dogs. However, a pro-arrhythmic side effect, caused by prolonged QT intervals, reported humans. This pilot study evaluated the corrected (QTc) interval dogs treated with domperidone preventive or therapeutic management of leishmaniosis. The electrocardiogram blood concentration creatinine, urea nitrogen, sodium, potassium, chloride were seven days before start on last day therapy 17 receiving...
Nodular lymphoid hyperplasia (NLH) is one of the most common non-neoplastic splenic lesions in dogs, especially old ones, showing a enlargement. More recent studies have been focused on Contrast Enhanced Ultrasonography (CEUS) analysis spleen for establishing normal perfusion patterns and blood pool phase peculiarities focal lesions. The aim study was to evaluate qualitative quantitative CEUS canine NLH, characterizing pattern this pathology 20 clinical cases.A prospective, observational...
Multiple sclerosis (MS) is an inflammatory neurodegenerative disorder of the central nervous system (CNS). The migration immune cells into CNS essential for its development, and plasma membrane molecules play important role in triggering maintaining inflammation. We previously identified ninjurin2, a protein encoded by NINJ2 gene, as involved occurrence relapse under Interferon-β treatment MS patients. aim present study was to investigate involvement conditions monocytes through blood–brain...
The acquisition of reliable tissue-specific RNA sequencing data from human skin biopsy represents a major advance in research. However, the complexity process isolation specific layers fresh-frozen specimen by laser capture microdissection, abundant presence nucleases and instability remain relevant methodological challenges. We developed optimized protocol to extract biopsies provide satisfactory quality amount mRNA data.The includes steps collection, embedding, freezing, histological...
Genome-wide association studies identified over 200 risk loci for multiple sclerosis (MS) focusing on common variants, which account about 50% of disease heritability. The goal this study was to investigate whether low-frequency and rare functional located in MS-established associated loci, may contribute a relatively homogeneous population, testing their cumulative effect (burden) with gene-wise tests. We sequenced 98 genes 588 Italian patients MS 408 matched healthy controls (HCs)....