Risultati per: Scoperto il gene che può rallentare l’invecchiamento

Analizzati 83 studi internazionali, hanno accuratezza del 50%

La composizione del microbiota può influenzare la fertilità di uomini e donne

Sindrome Vexas, al San Raffaele di Milano ambulatorio dedicato

This cross-sectional study compares how sponsors approach parallel submissions of gene and cell therapy applications to drug regulatory agencies.

Nei test efficace contro infezioni resistenti

È la Monarda didyma. Ricerca dell’Università di Padova

Objectives
Women diagnosed with BRCA1/2 mutations face significantly elevated lifetime risks of breast and ovarian cancer. Due to the distinctive biopsychosocial implications of a BRCA diagnosis, the care trajectory for these women is highly personalised, yet their care needs frequently remain unmet. The aim was to provide a first overview of the evidence of women’s experiences with person-centred care (PCC) within BRCA care and their needs for further PCC implementation.

Design
A scoping review, guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews, was conducted.

Data sources
Medline, Embase, Web of Science Core Collection, Cochrane Central Register of Controlled Trials, CINAHL Plus and Google Scholar were searched for literature published between January 2004 and February 2024.

Eligibility criteria
Peer-reviewed, primary studies on BRCA and PCC using quantitative, qualitative and mixed-methods designs were eligible. The criteria were iteratively refined to include publications based on samples that were >80% female and >80% BRCA positive.

Data extraction and synthesis
Titles and abstracts were screened with ASReview, a validated AI-driven tool. Data on PCC evidence and needs were extracted based on the eight Picker Principles of PCC and synthesised by describing themes within each principle.

Results
Of the 3801 articles identified as potentially relevant, 18 were included in the review. PCC needs were more prevalent than evidence of their implementation. Most of women’s positive experiences with PCC focused on ‘clear information, communication and support for self-care’, while limited to no evidence existed for other principles. The highest needs were found for increased ‘emotional support, empathy and respect’, ‘attention to physical and environmental needs’, and ‘clear information, communication and support for self-care’. All articles reported demands for more holistic, yet personalised care, though PCC was not mentioned explicitly.

Conclusions
This review suggests a person-centred approach is relevant to improving the standard of BRCA care for women. The first evidence of women’s experiences with PCC demonstrates how care delivered with sensitivity and respect for individual backgrounds can support women throughout their BRCA trajectory. Yet, substantial unmet needs remain among female BRCA carriers, highlighting the importance of further research and PCC implementation to enhance the quality of postdiagnostic care.

Studio italiano, la chiave è in una particolare trasformazione delle cellule

Introduction
The standard first-line treatment for driver-gene negative advanced non-small cell lung cancer (NSCLC) is chemotherapy combined with immunotherapy. However, owing to the immune microenvironment imbalance and immune status impairment caused by repeated chemotherapy, as well as the primary or secondary resistance to immune checkpoint inhibitors, the efficacy of immunotherapy combined with chemotherapy remains unsatisfactory. Recent studies have shown that faecal microbiota transplantation (FMT) can modulate the intestinal microflora, influence the tumour immune microenvironment and even enhance the efficacy of immunotherapy. Hence, we conduct such a prospective, exploratory study to evaluate the efficacy and safety of integrating FMT with standard first-line treatment in patients with driver-gene negative advanced NSCLC.

Methods and analysis
FMT-JSNO-02 (NCT06403111) is a prospective, multicentre, single-arm exploratory study. It is planned to include 62 cases of previously untreated driver-gene negative, Eastern Cooperative Oncology Group Performance Status 0–1, programmed death ligand 1

La pneumologa Dagmar Rinnenburger: “L’aspirazione per evitare infezione da ingestione”

Massimo impatto da fumo e attività fisica, ma pesa anche il reddito

Studio prende in esame un campione di oltre 300 donne

New England Journal of Medicine, Ahead of Print.

Stroke, Volume 56, Issue Suppl_1, Page A78-A78, February 1, 2025. Introduction:Intracranial aneurysm (IA), a cerebrovascular disease affecting 3-5% of US population, leads to subarachnoid hemorrage. A non-invasive diagnostic to identify those with an IA could facilitate more widespread screening and better disease management.Objective:We have designed a PCR-based diagnostic assay for IA, AneuScreenTM, that is comprised of a previously-published 50-gene panel. This project aimed to further develop the assay’s predictive model in a large cohort and its predictive power in independent cases.Methods:Before testing, the assay underwent rigorous standardization to test signal strength, dynamic range and linearity, and variation across replicates. Blood from consenting individuals with/without IA (angiogram confirmed) were collected under IRB approval from University at Buffalo, University of Pennsylvania, and University of South Florida. One mL of blood was collected into DxTerity RNA-stabilizing blood tube. After running each sample on the assay and standardizing data, gene expression levels of all 50 genes (as well as gene ratios and patient data) were used for support vector machine (SVM) model development in 85% of the data. Top 50 features selected by statistical filtering and ranking were used in nested loops to maximize training performance. Optimal model was validated in remaining 15% of samples.Results:We enrolled 497 individuals (276 had IAs). In training, 12 features were most important. The final SVM model performed well in testing set without showing evidence of overfitting, achieving an AUC of 0.74. In independent validation set, the model reached an AUC of 0.80 (Fig. 1A and B).Conclusion:SVM model developed using expression data from AneuScreenTMin a large cohort of individuals with and without IA was able to predict IA cases with an AUC of 0.80. This demonstrates the potential of using circulating blood to screen for IA presence. Additional testing is required to finetune model and improve accuracy.