Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance.

Highly penetrant variants of genes are involved in hereditary predisposition to breast and ovarian cancer. The detection of pathogenic BRCA variants has a considerable clinical impact, allowing appropriate cancer-risk management. However, a major drawback is represented by the identification of variants of uncertain significance (VUS).

Reliability of a multiplex PCR system for diagnosis of early and late prosthetic joint infections before and after broth enrichment.

Early microbiological diagnosis of prosthetic joint infection (PJI) is essential for successful antimicrobial treatment; however, culture has limited sensitivity, particularly in patients who had received antibiotic therapy, and the utility of molecular methods for diagnosing PJIs remains debated. We investigated the reliability of a multiplex PCR system for the microbiological diagnosis of early and late PJIs. Samples of periprosthetic tissues, synovial fluid, and prosthetic implants from 47 patients with early (n=13) or late (n=34) PJI were analyzed by conventional culture and with the multiplex-PCR Unyvero ITI (U-ITI) cartridge system.