Search Results for: Università di Padova: scoperta molecola a base di rame che colpisce i tumori solidi

Convegno Icar a Padova, al centro l’emersione del ‘sommerso’

Convegno Icar a Padova, al centro l’emersione del ‘sommerso’

Studio Candiolo su Science, faro su mutazione Dna

Studio Candiolo su Science, faro su mutazione Dna

Studio Candiolo su Science, faro su mutazione Dna

Studio Candiolo su Science, faro su mutazione Dna

Gimbe, 50% non fa controlli per mammella e cervice,66% per colon

A fronte di 1.434 posti vacanti ci sono state 349 domande

A fronte di 1.434 posti vacanti ci sono state 349 domande

Objective
There is limited evidence on the economic implications of assessing patients’ access to personalised treatments through Comprehensive Genomic Profiling (CGP) and Molecular Tumour Board (MTB), prompting the need to analyse their impact on the cost of the cancer diagnostic journey (from hospital admission to MTB evaluation) and accessibility to personalised therapies.

Design
Retrospective observational cohort.

Setting
Patients discussed from April 2020 to September 2021 by the institutional MTB operating at Fondazione IRCCS Istituto Nazionale Tumori of Milan, an Italian centre of excellence in oncology pertaining to the national health system.

Participants
676 patients focused on: non-small cell lung cancer (NSCLC), cholangiocarcinoma (CCA), pancreatic carcinoma (PC) and gastro-oesophageal carcinoma (GEC). We defined two different scenarios: (1) patients tested with small Next-Generation Sequencing (NGS) panels (≤60 biomarkers) vs (2) patients tested with comprehensive panels ( >60 biomarkers).

Main outcomes and measures
We measured (1) patients’ eligibility to personalised therapies based on genomic data obtained using targeted somatic NGS panels, (2) MTB cost and the overall diagnostic journey cost and (3) the cost to find a patient eligible to access personalised treatments.

Results
Tumour profiling with comprehensive NGS panels improved patients’ eligibility to personalised therapies compared with small panels (NSCLC: 39% comprehensive panel vs 37% small panel; CCA: 43% vs 17%; PC: 35% vs 3%; GEC: 40% vs 0%). The overall diagnostic journey cost per patient was between 3.2K and 7.4K (NSCLC: 7.4K comprehensive panel vs 6.4K small panel; CCA: 4.9K vs 3.7K; PC: 5.8K vs 4.5K; GEC: 4.2K vs 3.2K). MTB discussion accounted for only 2–3% of the diagnostic journey cost per patient (around 113/patient). The cost to find patient eligible for personalised treatments varied significantly according to panel size and tumour setting (NSCLC: 5K comprehensive panel vs 2.8K small panel; CCA: 4.4K vs 4.4K; PC: 5.5K vs 27K; GEC: 5.2K vs not measurable since none of the patients analysed with small NGS panels were eligible).

Conclusions and relevance
MTB discussion of genomic data obtained with NGS comprehensive panels significantly increases patient eligibility to targeted therapies and optimise the cost to find a patient eligible to personalised treatments, mainly for CCA, PC and GEC patients.

Circulation, Ahead of Print. Background:Vascular smooth muscle cells (vSMCs), the predominant cell type in the aortic wall, play a crucial role in maintaining aortic integrity, blood pressure, and cardiovascular function. vSMC contractility and function depend on smooth muscle alpha-actin 2 (ACTA2). The pathogenic variantACTA2 c.536G >A(p. R179H) causes multisystemic smooth muscle dysfunction syndrome (MSMDS), a severe disorder marked by widespread smooth muscle abnormalities, resulting in life-threatening aortic disease and high-risk early mortality from aneurysms or stroke. No effective treatments exist for MSMDS.Methods:To develop a comprehensive therapy for MSMDS, we utilized CRISPR-Cas9 adenine base editing to correct theACTA2R179H mutation. We generated isogenic human induced pluripotent stem cell (iPSC) lines and humanized mice carrying this pathogenic missense mutation. iPSC-SMCs were evaluated for key functional characteristics, including proliferation, migration, and contractility. The adenine base editor (ABE) ABE8e-SpCas9-VRQR under control of either a SMC-specific promoter or a CMV promoter, and an optimized single guide RNA (sgRNA) under control of U6 promoter were delivered intravenously to humanized R179H mice using adeno-associated virus serotype 9 (AAV9) and phenotypic outcomes were evaluated.Results:The R179H mutation causes a dramatic phenotypic switch in human iPSC-SMCs from a contractile to a synthetic state, a transition associated with aneurysm formation. Base editing prevented this pathogenic phenotypic switch and restored normal SMC function. In humanized mice, the ACTA2R179H/+mutation caused widespread smooth muscle dysfunction, manifesting as decreased blood pressure, aortic dilation and dissection, bladder enlargement, gut dilation, and hydronephrosis. In vivo base editing rescued these pathological abnormalities, normalizing smooth muscle function.Conclusions:This study demonstrates the effectiveness of adenine base editing to treat MSMDS and restore aortic smooth muscle function. By correcting theACTA2R179H mutation, the pathogenic phenotypic shift in SMCs was prevented, key aortic smooth muscle functions were restored, and life-threatening aortic dilation and dissection were mitigated in humanized mice. These findings underscore the promise of gene-editing therapies in addressing the underlying genetic causes of smooth muscle disorders and offer a potential transformative treatment for patients facing severe vascular complications.

 Lo produrrà Menarini a Pisa, previsto entro tre mesi in Italia

Al via campagna ‘la voce dell’intimità-sessualità e tumore seno’

Introduction
Healthcare systems face the challenge of managing limited resources while addressing the growing demand for care and the need for equitable access. Traditional cost-effectiveness analyses focus on maximising health benefits but often fail to account for how these benefits are distributed across various populations, potentially increasing health inequities. As a result, there is increasing interest in distributional cost-effectiveness analysis (DCEA), which incorporates equity considerations by explicitly assessing how health outcomes and costs are shared among diverse populations. This scoping review explores the practical application of DCEA methodology in evaluating programs and interventions. We seek to learn more about the barriers to DCEA’s application, highlighting its practical challenges, limited use globally and the steps necessary to integrate equity more effectively into implementing and adopting programs and interventions into healthcare policy and resource allocation.

Methods and analysis
To evaluate the use of DCEA in the literature, a scoping review will follow Preferred Reporting Items for Systematic Reviews and Meta-Analyses—Scoping Review Extension guidelines. Systematic searches will be performed across scientific databases (MEDLINE, SCOPUS, BASE, APA Psych and JSTOR), grey literature sources (Google Custom Search Engine), and handsearching to identify eligible articles published from January 2015 to March 2025. No limits will be placed on language. Reviewers will independently chart data from eligible studies using standardised data abstraction. The collected information will be synthesised both quantitatively and narratively.

Ethics and dissemination
Formal ethical approval is not necessary as this study will not collect primary data. The findings will be shared with professional networks, published in conference proceedings and submitted for peer-reviewed publication.

Introduction
Healthcare systems face the challenge of managing limited resources while addressing the growing demand for care and the need for equitable access. Traditional cost-effectiveness analyses focus on maximising health benefits but often fail to account for how these benefits are distributed across various populations, potentially increasing health inequities. As a result, there is increasing interest in distributional cost-effectiveness analysis (DCEA), which incorporates equity considerations by explicitly assessing how health outcomes and costs are shared among diverse populations. This scoping review explores the practical application of DCEA methodology in evaluating programs and interventions. We seek to learn more about the barriers to DCEA’s application, highlighting its practical challenges, limited use globally and the steps necessary to integrate equity more effectively into implementing and adopting programs and interventions into healthcare policy and resource allocation.

Methods and analysis
To evaluate the use of DCEA in the literature, a scoping review will follow Preferred Reporting Items for Systematic Reviews and Meta-Analyses—Scoping Review Extension guidelines. Systematic searches will be performed across scientific databases (MEDLINE, SCOPUS, BASE, APA Psych and JSTOR), grey literature sources (Google Custom Search Engine), and handsearching to identify eligible articles published from January 2015 to March 2025. No limits will be placed on language. Reviewers will independently chart data from eligible studies using standardised data abstraction. The collected information will be synthesised both quantitatively and narratively.

Ethics and dissemination
Formal ethical approval is not necessary as this study will not collect primary data. The findings will be shared with professional networks, published in conference proceedings and submitted for peer-reviewed publication.

Al Sant’Orsola trattati 240 pazienti con l’immunoterapia Car-T