A5053517115- Gene expression and cancer classification
- Bioinformatics and Genomic Networks
- Mental Health Research Topics
- Cancer Genomics and Diagnostics
- Alzheimer's disease research and treatments
- Gene Regulatory Network Analysis
- Amyotrophic Lateral Sclerosis Research
- COVID-19 and healthcare impacts
- Acute Ischemic Stroke Management
- Biomedical Text Mining and Ontologies
- Genomics and Chromatin Dynamics
- Long-Term Effects of COVID-19
- Dementia and Cognitive Impairment Research
- Molecular Biology Techniques and Applications
- Radiation Dose and Imaging
- Cervical Cancer and HPV Research
- RNA Research and Splicing
- Transcranial Magnetic Stimulation Studies
- Neonatal Health and Biochemistry
- Endometrial and Cervical Cancer Treatments
- Prion Diseases and Protein Misfolding
- Retinopathy of Prematurity Studies
- Neonatal Respiratory Health Research
- Cancer Mechanisms and Therapy
- Radiomics and Machine Learning in Medical Imaging
Agostino Gemelli University Polyclinic
2021-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2022-2023
University of Pavia
2015-2023
ORCID
2021
European Institute of Oncology
2019-2020
Politecnico di Milano
2012-2017
Center for Genomic Science
2015
Italian Institute of Technology
2015
Transcranial magnetic stimulation (TMS) has been suggested as a reliable, noninvasive, and inexpensive tool for the diagnosis of neurodegenerative dementias. In this study, we assessed classification performance TMS parameters in differential common disorders, including Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal (FTD).We performed multicenter study enrolling patients referred to 4 centers Italy, accordance Standards Reporting Diagnostic Accuracy. All underwent...
Abstract Motivation: Improvement of sequencing technologies and data processing pipelines is rapidly providing data, with associated high-level features, many individual genomes in multiple biological clinical conditions. They allow for data-driven genomic, transcriptomic epigenomic characterizations, but require state-of-the-art ‘big data’ computing strategies, abstraction levels beyond available tool capabilities. Results: We propose a high-level, declarative GenoMetric Query Language...
To evaluate the performance of a Random Forest (RF) classifier on Transcranial Magnetic Stimulation (TMS) measures in patients with Mild Cognitive Impairment (MCI).We applied RF TMS obtained from multicenter cohort MCI, including MCI-Alzheimer's Disease (MCI-AD), MCI-frontotemporal dementia (MCI-FTD), MCI-dementia Lewy bodies (MCI-DLB), and healthy controls (HC). All underwent assessment at recruitment (index test), application reference clinical criteria, to predict different...
Frontotemporal dementia (FTD) is the second most prevalent form of early onset after Alzheimer's disease (AD). We performed a case-control association study in an Italian FTD cohort (n = 530) followed by novel single nucleotide polymorphisms (SNPs)-to-genes approach and functional annotation analysis. identified 2 potential loci for FTD. Suggestive SNPs reached p-values ∼10(-7) odds ratio > 2.5 (2p16.3) 1.5 (17q25.3). alleles at 17q25.3 disease-associated haplotype causing decreased...
Abstract Background Extremely low gestational age neonates (ELGANs, i.e., born before 28 weeks of gestation) are at high risk developing retinopathy prematurity (ROP), with potential long-life visual impairment. Due to concomitant anemia, ELGANs need repeated red blood cell (RBC) transfusions. These produce a progressive replacement fetal hemoglobin (HbF) by adult (HbA). Furthermore, close association exists between levels HbF and severe ROP, suggesting that perturbation the HbF-mediated...
Abstract Background High-grade serous ovarian cancer (HGSOC) has poor survival rates due to a combination of diagnosis at advanced stage and disease recurrence as result chemotherapy resistance. In BRCA1 (Breast Cancer gene 1) - or BRCA2-wild type (BRCAwt) HGSOC patients, resistance progressive occur earlier more often than in mutated BRCA. Identification biomarkers helpful predicting response first-line is challenge improve BRCAwt management. Methods To identify signature that can predict...
Frontotemporal Dementia (FTD) is the form of neurodegenerative dementia with highest prevalence after Alzheimer's disease, equally distributed in men and women. It includes several variants, generally characterized by behavioural instability language impairments. Although few mendelian genes (MAPT, GRN, C9orf72) have been associated to FTD phenotype, most cases there only evidence multiple risk loci relatively small effect size. To date, are no comprehensive studies describing at molecular...
Brain functional disruption and cognitive shortfalls as consequences of neurodegeneration are among the most investigated aspects in current clinical research. Traditionally, specific anatomical behavioral traits have been associated with neurodegeneration, thus directly translatable terms. However, these qualitative traits, do not account for extensive information flow breakdown within brain network that deeply affect skills. Behavioural variant Frontotemporal Dementia (bvFTD) is a...
With the advent of high-throughput sequencing (HTS) in molecular biology and medicine, need for scalable statistical solutions modeling complex biological systems has become critical importance. The increasing number platforms possible experimental scenarios raised problem integrating large amounts new heterogeneous data current knowledge, to test novel hypotheses improve our comprehension physiological processes diseases. Although network theory provided a framework represent study their...
Ultrasound examination is an accurate method in the preoperative evaluation of inguinofemoral lymph nodes when performed by experienced operators. The purpose study was to build a robust, multi-modular model based on machine learning discriminate between metastatic and non-metastatic inguinal patients with vulvar cancer. One hundred twenty-seven women were selected at our center from March 2017 April 2020, 237 regions analyzed (75 162 histology). before surgery examiners. features defined...
To characterize patients with acute ischemic stroke related to SARS-CoV-2 infection and assess the classification performance of clinical laboratory parameters in predicting in-hospital outcome these patients.In setting STROKOVID study including consecutively admitted ten hub hospitals Lombardy, Italy, between March 8 April 30, 2020, we compared features confirmed non-infected by logistic regression models survival analysis. Then, trained tested a random forest (RF) binary classifier for...
Medulloblastoma (MB) is the most common cerebellar malignancy during childhood. Among MB, MYC-amplified Group 3 tumors display worst prognosis. MYC an oncogenic transcription factor currently thought to be undruggable. Nevertheless, targeting MYC-dependent processes (i.e. and RNA processing regulation) represents a promising approach. We have tested sensitivity of MYC-driven MB cells pool splicing inhibitors that wide spectrum targets. them, we focus on THZ531, inhibitor transcriptional...
In January 2022, our institution launched a comprehensive cancer genome profiling program on 10 types using non-IVD solution named the TruSight Oncology 500 Assay provided by Illumina®. The assay analyzes both DNA and RNA, identifying Single-Nucleotide Variants (SNV)s Insertion-Deletion (InDel) in 523 genes, as well known unknown fusions splicing variants 55 genes Copy Number Alterations (CNVs), Mutational Tumor Burden (MTB) Microsatellite Instability (MSI). According to current European IVD...
<h3>Introduction/Background</h3> Preoperative evaluation of inguinal lymph nodes in vulvar cancer patients is still a challenge. Our aim was to build robust, multi-modular ultrasound model based on artificial intelligence. <h3>Methodology</h3> From March 2017 April 2020, 127 women were included at our center and 237 regions studied before surgery by experienced examiners. Ultrasound features defined previous studies prospectively collected. Histopathology considered the reference standard....
In frontotemporal dementia (FTD), age at disease onset (AAO) is unpredictable in both early and late-onset cases; AAO variability found even autosomal dominant FTD. The present study was aimed identifying genetic modifiers modulating a large cohort of Italian FTD patients. We conducted an association analysis on 411 patients, belonging to 7 Centers, for whom available. Population structure evaluated by principal component infer continuous axes variation, single linear regression models were...
Biomolecular controlled annotations have become pivotal in computational biology, because they allow scientists to analyze large amounts of biological data better understand test results, and infer new knowledge. Yet, biomolecular annotation databases are incomplete by definition, like our knowledge might contain errors inconsistent information. In this context, machine-learning algorithms able predict prioritize both effective efficient, especially if compared with time-consuming trials...
Abstract Purpose: To investigate whether the COVID-19 pandemic and national lockdown had an impact on extent of cancer disease at staging using FDG PET/CT as surrogate marker. Methods: Retrospective observational study including patients submitted to for purposes from June 1 October 31, 2020, 2021, respectively. Data regarding primary tumour, nodal (N) status number involved stations, presence distant metastases (M) were collected. Each scan was classified in limited vs advanced status....
Abstract Whether and how SARS-CoV-2 outbreak affected in-hospital acute stroke care system is still matter of debate. In the setting STROKOVID network, a collaborative project between 10 centers designed as hubs for treatment during in Lombardy, Italy, we retrospectively compared clinical features process measures patients with confirmed infection (COVID-19) non-infected (non-COVID-19) who underwent reperfusion therapies ischemic stroke. Between March 8 April 30, 2020, 296 consecutive...