A5025845066- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Acute Myeloid Leukemia Research
- BRCA gene mutations in cancer
- COVID-19 Clinical Research Studies
- Inflammatory Biomarkers in Disease Prognosis
- Kruppel-like factors research
- Genetic factors in colorectal cancer
- Sepsis Diagnosis and Treatment
- DNA Repair Mechanisms
- Multiple Myeloma Research and Treatments
- Biomedical Text Mining and Ontologies
- Computational Drug Discovery Methods
- Chronic Myeloid Leukemia Treatments
- Ethics in Clinical Research
- Family and Patient Care in Intensive Care Units
- Hippo pathway signaling and YAP/TAZ
- CRISPR and Genetic Engineering
- Hematological disorders and diagnostics
- Chemokine receptors and signaling
- Mental Health Research Topics
- Palliative Care and End-of-Life Issues
- PARP inhibition in cancer therapy
- Eosinophilic Disorders and Syndromes
Hospital Clínico Universitario de Valladolid
2024
University of Modena and Reggio Emilia
2019-2023
Ferrari (Italy)
2023
Abstract Monocyte Distribution Width (MDW), a new cytometric parameter correlating with cytomorphologic changes occurring upon massive monocyte activation, has recently emerged as promising early biomarker of sepsis. Similar to sepsis, monocyte/macrophage subsets are considered key mediators the life-threatening hyper-inflammatory disorder characterizing severe COVID-19. In this study, we longitudinally analyzed MDW values in cohort 87 COVID-19 patients consecutively admitted our hospital,...
The rapid evolution of Next Generation Sequencing in clinical settings, and the resulting challenge variant reinterpretation given constantly updated information, require robust data management systems organized approaches. In this paper, we present iVar: a freely available highly customizable tool with user-friendly web interface. It represents platform for unified variants identified by different sequencing technologies. iVar accepts call format (VCF) files text annotation elaborates them,...
Transformation from chronic (CP) to blast phase (BP) in myeloproliferative neoplasm (MPN) remains poorly characterized, and no specific mutation pattern has been highlighted. BP-MPN represents an unmet need, due its refractoriness treatment dismal outcome. Taking advantage of the granularity provided by single-cell sequencing (SCS), we analyzed paired samples CP BP 10 patients map clonal trajectories interrogate target copy number variants (CNVs). Already at diagnosis, MPN present as...
Myelofibrosis (MF) is the Philadelphia-negative myeloproliferative neoplasm characterized by worst prognosis and no response to conventional therapy. Driver mutations in JAK2 CALR impact on JAK-STAT pathway activation but also production of reactive oxygen species (ROS). ROS play a pivotal role inflammation-induced oxidative damage cellular components including DNA, therefore leading greater genomic instability promoting cell transformation. In order unveil driver stress, we assessed levels...
The identification of BRCA mutations plays a crucial role in the management hereditary cancer prevention and treatment. Nonetheless, BRCA-testing pancreatic (PC) patients is not universally introduced clinical practice. A retrospective analysis was conducted, firstly, to evaluate rate BRCA-positive families among those presenting family history PC besides breast and/or ovarian cancer. Secondly, relationship between pathogenic variants risk evaluated. Finally, characteristics developed were...
Abstract Myelofibrosis (MF) belongs to the family of classic Philadelphia-negative myeloproliferative neoplasms (MPNs). It can be primary myelofibrosis (PMF) or secondary (SMF) evolving from polycythemia vera (PV) essential thrombocythemia (ET). Despite differences, PMF and SMF patients are currently managed in same way, prediction survival is based on clinical genetic features. In last few years, interest has grown concerning ability gene expression profiles (GEPs) provide valuable...
Next-generation sequencing (NGS)-based cancer risk screening with multigene panels has become the most successful method for programming prevention strategies. ATM germ-line heterozygosity been described to increase tumor susceptibility. In particular, families carrying heterozygous variants of gene have a 5- 9-fold developing breast cancer. Recent studies identified as second mutated after CHEK2 in BRCA-negative patients. Nowadays, more than 170 missense and several truncating mutations...
The Next Generation Sequencing (NGS) based mutational study of hereditary cancer genes is crucial to design tailored prevention strategies in subjects with different risk. ease amplicon-based NGS library construction protocols contrasts the greater uniformity enrichment provided by capture-based and so chances for detecting larger genomic rearrangements copy-number variations. Capture-based protocols, however, are characterized a higher level complexity sample handling, extremely susceptible...
The rapid evolution of Next Generation Sequencing in clinical settings and the resulting challenge variants interpretation light constantly updated information, requires robust data management systems organized approaches to variant reinterpretation. In this paper, we present iVar: a freely available highly customizable tool provided with user-friendly web interface. It represents platform for unified identified by different sequencing technologies. iVar accepts, as input, VCF files text...
Multiple Myeloma (MM) typically originates from underlying precursor conditions, known as Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smoldering (SMM). Validated risk factors, related to the main features clonal plasma cells, are employed in current prognostic models assess long-term probabilities progression MM. In addition, new immunologic parameters, measuring protective MM-specific T-cell responses, could help identify patients with shorter time-to-progression. this...
Abstract Background: During COVID-19 pandemic, visitations have been prohibited in most French ICUs. We aimed to assess psychological effects, for reference persons (RPs), of experiencing remote-only communication with both caregivers and the patient during pandemic. Methods: All RPs patients referred ICU were included. HADS, IES-R, satisfaction evaluated at admission, discharge/death 3 months. At months, an interview a psychologist provided qualitative description RPs’ distress. Results:...
(1) Background: the NGS based mutational study of hereditary cancer genes is crucial to design tailored prevention strategies in subjects with different risk. The ease amplicon-based library construction protocols contrasts greater uniformity enrichment provided by capture-based and so chances for detecting larger genomic rearrangements copy-number variations. Capture-based protocols, however, are characterized a higher level complexity sample handling, extremely susceptible human bias....
Next Generation Sequencing based cancer risk screening with multigene panels has become the most successful method for programming prevention strategies. ATM germ-line heterozygosity been described as able to increase tumor susceptibility. In particular, families that carry heterozygous variants of gene show a 5- 9-fold developing breast cancer. Recent studies identified second mutated after CHEK2 in BRCA-negative patients. Nowadays, more than 170 potential missense and several truncating...
Abstract Monocyte Distribution Width (MDW), a new cytometric parameter correlating with cytomorphologic changes occurring upon massive monocyte activation, has recently emerged as promising early biomarker of sepsis. Similar to sepsis, monocyte/macrophage subsets are considered key mediators the life-threatening hyper-inflammatory disorder characterizing severe COVID-19. In this study, we longitudinally analyzed MDW values in cohort 87 COVID-19 patients consecutively admitted our hospital,...
Abstract TEAD transcription factors are the major effectors of Hippo-YAP/TAZ pathway essential in controlling organ size and maintaining tissue homeostasis. Upon coactivator YAP/TAZ binding, activated to induce expression genes involved cell proliferation survival. It has been shown that auto-palmitoylation is required for interaction with hence activation transcriptional activity. Potent small molecule inhibitors have reported (Tang et al, 2021, Mol Cancer Ther.). These disrupt YAP/TAZ-TEAD...
Background: Primary myelofibrosis (PMF) together with polycythemia vera (PV) and essential thrombocythemia (ET) belongs to the classic Philadelphia-negative myeloproliferative neoplasms (MPNs). PV ET can evolve secondary (SMF) giving rise post-PV (PPV) post-ET (PET) (MF). PMF SMF patients are currently managed in same way prediction of survival is based on prognostic models, even if it has been demonstrated that they can’t accurately distinguish different risk categories SMF. In last few...
The rapid evolution of Next Generation Sequencing in clinical settings and the resulting challenge variants interpretation light constantly updated information, requires robust data management systems organized approaches to variant reinterpretation. In this paper, we present iVar: a freely available highly customizable tool provided with user-friendly web interface. It represents platform for unified identified by different sequencing technologies. iVar accepts, as input, VCF files text...
Background: Myeloproliferative neoplasms (MPNs) are a group of hematopoietic stem cell disorders resulting in the overproduction myeloid differentiated cells. Primary Myelofibrosis (PMF) is characterized by worst prognosis and 15-20% cases develop secondary Acute Myeloid Leukemia (AML). MPNs driver mutations affect JAK2, CALR or MPL genes. Moreover, epigenetic regulators can exacerbate disease alter response to treatment. Our recently demonstrated through single analysis that progression due...
Background: Myelofibrosis (MF) is the Philadelphia-negative myeloproliferative neoplasm characterized by worst prognosis and poor response to conventional therapy. Driver mutations in JAK2 CALR impact on JAK-STAT pathway activation but also production of reactive oxygen species (ROS). ROS play a pivotal role inflammation-induced oxidative damage cellular components including DNA, that leads greater genomic instability promotes cell transformation. Aims: In order unveil driver stress...
Abstract Background : Monocyte Distribution Width (MDW), a new cytometric parameter correlating with cytomorphologic changes occurring during massive monocyte activation, has recently been described as promising early biomarker of sepsis. Similar to sepsis, in SARS-CoV-2-associated disease (COVID-19) monocyte/macrophage subsets are considered key mediators the life-threatening hyper-inflammatory disorder –commonly defined ‘cytokine storm’– which is part complex infection-associated immune...