Search Results for: L’alcool danneggia il DNA e aumenta il rischio di cancro.

Stroke, Volume 56, Issue Suppl_1, Page AWP112-AWP112, February 1, 2025. Background:Stroke is a major cause of long-term disability and has widely varying recovery outcomes. While clinical factors like stroke severity play a role, genetic factors are increasingly recognized as important contributors to stroke recovery. This study aims to identify genetic variants associated with recovery phenotypes through genome-wide association studies (GWAS) and protein-protein interaction (PPI) networks.Methods:DNA from STRONG study participants was genotyped using the Infinium Global Screening Array, resulting in 565 samples and 9,814,610 variants after quality control. GWAS were conducted on 11 recovery phenotypes using plink v1.9, including motor (Grip Strength), cognition (tMoCA), functional performance (SIS-ADL), mental health (PHQ-8 and PTSD), and disability (mRS). Models adjusted for age, sex, stroke severity acutely, and ancestry. To further examine how the identified genetic variants may relate to biological mechanisms of recovery, PPI networks and gene ontology enrichment analyses were conducted.Results:Participants’ stroke severity was mild to moderate (acute NIHSS median score 4, IQR 2 – 9). Several cross-phenotype associations were identified for genes of biological interest: Grip strength, PHQ8, and PTSD were associated with the rs138829971-C variant near DCLK2 (involved in hippocampal organization). Grip strength and tMoCA were associated with the rs149456987-T variant near UNK (crucial for cortical neuron development). The PPI networks for multiple phenotypes (including SIS ADL and mRS at 3 months, change in Grip Strength from 1-3 months, PHQ8 and PTSD measures at 12 months) were significantly enriched in protein-protein interactions, and for GO terms including Nervous System Development (SIS ADL), Post-synaptic Density (PHQ8), Neuron Projection (tMOCA) and Axon Guidance (Grip Strength).Conclusions:While some genetic variations affect specific domains of recovery, others have cross-phenotype associations that affect recovery more broadly. Our analyses identified several gene associations and biological pathways active during development, suggesting a potential shared biology with reparative processes post-stroke. Other associated genes affecting axon guidance that we identified remain expressed in adult brain tissue and could offer targets for developing drug therapies.

Stroke, Volume 56, Issue Suppl_1, Page AWP374-AWP374, February 1, 2025. Introduction:The human microbiome has been studied in various diseases, including inflammatory bowel disease, diabetes, obesity, and cardiovascular diseases. However, its role in acute ischemic stroke (AIS) remains underexplored. This study aims to investigate the microbiome profiles in stool and saliva samples from AIS patients compared to control groups to identify distinct microbial patterns associated with ischemic stroke.Methods:We enrolled 54 AIS patients, collecting stool and saliva samples within one week of admission. Saliva was either self-expectorated (n=44) or obtained via oral swab (n=10) for those unable to spit. The 40 control group was defined as those without cerebrovascular disease, in whom no abnormalities were found on brain MRI/A taken for health check-up purposes within the past year. DNA extraction and 16S rRNA gene sequencing were performed, and data were analyzed using QIIME 2 for diversity and taxonomy, with Linear discriminant analysis Effect Size (LEfSe) for differential abundance and functional predictions.Results:AIS patients demonstrated significantly higher alpha diversity in stool samples compared to controls (p=0.001), indicating increased microbial richness. Saliva samples, however, showed decreased microbial richness in AIS patients (p=0.024). Beta diversity analysis revealed distinct microbial community structures between AIS patients and controls, especially at the genus level in stool samples (p=0.001). LEfSe analysis identified several bacterial taxa enriched in AIS patients’ stool, while saliva samples from AIS patients exhibited a higher number of depleted taxa compared to controls. Notably, the AIS microbiome showed reduced functional capabilities related to beneficial metabolic processes includingProteobacteria, Gammaproteobacteria, Enterobacteriaceae, andShigella, etc.These findings highlight a potential link between microbiome dysbiosis and the pathophysiology of AIS.Conclusions:This study identifies significant microbiome dysbiosis in AIS patients, characterized by altered diversity and bacterial composition in stool and saliva samples. The findings suggest that gut and oral microbiomes may contribute to the pathophysiology of cerebral infarction, warranting further investigation into their roles as potential biomarkers or therapeutic targets.

Stroke, Volume 56, Issue Suppl_1, Page ADP60-ADP60, February 1, 2025. Background:Chronic kidney disease (CKD) has emerged as an independent risk factor for cerebral microhemorrhages (CMH). We examined molecular mechanisms of CMH formation in mouse models of CKD and hypertension (HTN) using RNA transcriptomics and mTOR complex 1 (mTORC1) inhibition.Methods:Aged (17-month-old) mice were treated with either 0.2% adenine diet to induce CKD, or angiotensin II (ATII) via subcutaneous osmotic pumps to induce HTN and compared with control mice. A subset of CKD mice was treated with rapamycin to inhibit mTORC1 signaling. After 4 weeks, RNA sequencing of mouse brain was done via Illumina NovaSeq 6000 with downstream analysis using Hisat2, Salmon, and DESeq2. Differentially expressed genes (DEGs) and enriched pathways were identified using the MsigDB Hallmark 2020 database. Pathway analysis was further examined using qPCR and immunohistochemistry staining. CMH were quantified using Prussian blue histology.Results:CKD mice had increased CMH number (1.12±0.10 vs 0.85±0.08 per cm2in CKD vs control mice, p

Stroke, Volume 56, Issue Suppl_1, Page ATMP3-ATMP3, February 1, 2025. Cerebral aneurysms (CA) arise from the sites of weakened artery walls in the brain, and they may cause hemorrhagic stroke, coma, and death when they rupture. Studies have revealed sex differences in ~1.5 times higher prevalence of CA and ~1.5 times higher CA rupture rate in females. It is believed that mechanisms of CA formation in women may differ from those in men; however, sex-specific CA biomarkers are poorly identified. We hypothesized that sex-specific CA biomarkers can be identified through cross-comparison between sexes using transcriptomics. Here, we reanalyzed 100 RNAseq samples containing 62 unruptured CAs (20 males/42 females) and 38 normal (19/19) acquired from 3 datasets of 6 manuscripts published between 2016 and 2021 for sex-specific biomarker identification in unruptured CA. Reanalysis of ~40K differentially expressed genes (DEGs) of transcriptomes filtered 1,106 and 1,133 CA genes in males and females respectively under the cutoff set at a 2-fold difference with a significant difference at p

Tornano “Arance rosse per la ricerca” per la lotta al cancro

Tornano “Arance rosse per la ricerca” per la lotta al cancro

In Reply We greatly appreciate the Letter from Dr Bachmeyer discussing the utility of the Tzanck smear for bedside diagnosis of HSV infection in response to our JAMA Insights article on genital herpes. Unfortunately, the Tzanck smear has low sensitivity even for trained clinicians, ranging from 51% to 79%, and it is unclear whether it adds diagnostic value to clinical assessment of lesion morphology. As such, it is not recommended in the US Centers for Disease Control and Prevention’s sexually transmitted infections treatment guidelines. Additionally, as noted by Bachmeyer, the Tzanck smear does not differentiate between HSV-1 and HSV-2, which is a critical piece of information for counseling of patients with genital herpes. When a patient presents with a lesion, we recommend obtaining a swab for virologic diagnosis with HSV DNA polymerase chain reaction as an accurate and type-specific diagnostic modality.

L’inizio tardivo della fase Rem è associato a un maggior rischio di ammalarsi

Rispettata la scadenza del Pnrr. Mancano gli infermieri

Introduction
While intensive protocols in onco-haematology have improved survival rates for patients with haematological malignancies, they have also resulted in an increased incidence of infection associated with therapy-induced immunosuppression (including chemotherapy-induced febrile neutropenia; FN). The occurrence of FN, associated with high morbidity and mortality, necessitates broad-spectrum antibiotic therapy, occasioning delayed chemotherapy and resulting in a loss of opportunity for the patient. Considering that without an identified pathogen, a 10% mortality rate can ensue, documentation is essential to the optimisation of antibiotic therapy. However, blood culture (the reference test) is limited for several reasons: such as fastidious culture, antibiotic treatment prior to sampling or insufficient sample volume. Sequencing technologies have led to the development of diagnostic approaches based on the detection of circulating DNA in blood. This study will aim to assess the clinical utility of metagenomic next-generation sequencing (mNGS)-DISQVER technology in detecting pathogenic microorganisms from blood samples of patients undergoing high-risk FN treatment.

Methods and analysis
This nationwide, prospective, multicentre, interventional, proof-of-concept clinical trial will enrol 200 patients. Will include patients≥18 years old, treated for malignancy, at high risk of FN (Multinational Association for Supportive Care in Cancer score≤21) with an expected duration of neutropenia≥7 days. Patients who received antibiotic treatment within 24 hours prior to enrolment, have previously participated and/or have enhanced protection will be excluded. The primary outcome will be determined by considering the microorganisms responsible for this FN, weighted by the assessment of an adjudication committee. Secondary outcomes will evaluate patient management depending on the arm. The second secondary outcome will be determined by the duration of conventional assessment, frequency of microorganisms detected during routine care and percentage distribution of theoretical adjustments made to anti-infective treatment based on microorganisms diagnosed using the mNGS-DISQVER tool as compared with conventional practices. Identifying the pathogens responsible for high-risk FN from a blood sample, using an unbiased technique, can provide microbiological documentation and may even reveal unexpected microorganisms in these profoundly immunocompromised patients.

Ethics and dissemination
The protocol received approval from the Comité de Protection des Personnes Sud-Méditerranée II. All participants will provide informed consent before participation. The trial has been registered on ClinicalTrials.gov (identifier NCT06075888). The results of the main trial and each of the secondary endpoints will be submitted for publication in a peer-reviewed journal.

Trial registration number
ClinicalTrials.gov NCT06075888.

Esperti, ‘da depressione ad Alzheimer si studiano nuovi usi”

Anche alcuni vaccini, tanti composti potrebbero aiutare le cura

Il 25 Airc celebra 60 anni d’impegno, 141 milioni alla ricerca