Publications by authors named "C A Roca"
Germline copy number variants (CNVs) play a significant role in hereditary diseases. However, the accurate detection of CNVs from targeted next-generation sequencing (NGS) gene panel data remains a challenging task. Several tools for calling CNVs within this context have been published to date, but the available benchmarks suffer from limitations, including testing on simulated data, testing on small datasets, and testing a small subset of published tools.
View Article and Find Full Text PDFfrequently causes chronic lung infection in individuals with muco-obstructive airway diseases (MADs). Chronic infections are difficult to treat, primarily owing to antibiotic treatment failure, which is often observed in the absence of antimicrobial resistance. In MADs, forms biofilm-like aggregates within the luminal mucus.
View Article and Find Full Text PDFArticle Synopsis
- There is a significant need for standardized tools tailored to assess functional communication disorders in Spanish and Catalan populations, particularly for individuals with aphasia.
- The study focuses on adapting the Communication Activities of Daily Living 3rd edition (CADL-3) into two versions: European Spanish (CADL-3VE) and Catalan (CADL-3VC), with testing conducted on 152 participants in Catalonia.
- The results indicate that both new versions of the test are reliable, strongly correlate with external criteria, and effectively differentiate between patients with aphasia and control groups, aiding in creating personalized treatment plans.
Article Synopsis
- - CXCR4 is a chemokine receptor that plays key roles in immune cell movement, organ development, and various diseases, including cancer and HIV-1 infection, with only one blocker, plerixafor, currently used clinically.
- - Recent research shows that when activated by CXCL12, CXCR4 changes its structure, reducing membrane-bound units and forming larger immobile clusters necessary for cells to respond to chemical signals.
- - Using molecular modeling, scientists discovered a compound, AGR1.137, that disrupts these CXCR4 clusters without interfering with CXCL12 binding, effectively blocking cellular response to chemical gradients in laboratory settings.
Introduction: Previous research suggests that e-cigarettes can alter immune function, including in the nasal mucosa, in unique ways. The respiratory microbiome plays a key role in respiratory host defense, but the effects of e-cigarettes on the respiratory or nasal microbiome, are not well understood.
Aims And Methods: Using 16S rRNA gene sequencing on nasal samples from adult e-cigarette users, smokers, and nonsmokers, we determined that e-cigarette use and cigarette smoking are associated with differential respiratory microbiome dysbiosis and substantial sex-dependent differences in the nasal microbiome, particularly in e-cigarette users.