2 research outputs found

    Reducing CLABSI in the NICU with IV Tubing Competency

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    Central line-associated bloodstream infection (CLABSI) is a significant problem in a Level IV neonatal intensive care unit (NICU) on the West Coast of California. A clinical nurse leader (CNL) student joined a team consisting of the unit’s nursing manager, nursing educator, clinical nurse specialist (CNS), and CNS student. Literature review highlighted the association between the development of CLABSI and the practice of changing central line intravenous (IV) tubing. Five interviews of nurses and 15 observations of nurses performing IV tubing change revealed practice variations within six major steps of the procedure. The team revised the IV tubing change policy to improve comprehension and feasibility and then educated nurses on the changes. The team sought to eliminate variations and standardize practice by designing a competency for IV tubing change that requires all nurses to perform the procedure as an instructor observes for accuracy with every step of the new policy. Evaluation of the competency is ongoing, but follow up questions include: (1) Have all nurses successfully passed the competency? (2) Are nurses maintaining compliance with the new policy after completion of the competency? (3) Has the CLABSI rate decreased in response to the competency

    The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

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    Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the DMD gene in our Italian cohort of 1902 patients (BMD n = 740, 39%; DMD n =1162, 61%) within a nationwide study involving 11 diagnostic centers in a 10-year window (2008–2017). In DMD patients, we found deletions in 57%, duplications in 11% and small mutations in 32%. In BMD, we found deletions in 78%, duplications in 9% and small mutations in 13%. In BMD, there are a higher number of deletions, and small mutations are more frequent than duplications. Among small mutations that are generally frequent in both phenotypes, 44% of DMD and 36% of BMD are nonsense, thus, eligible for stop codon read-through therapy; 63% of all out-of-frame deletions are eligible for single exon skipping. Patients were also assigned to Italian regions and showed interesting regional differences in mutation distribution. The full genetic characterization in this large, nationwide cohort has allowed us to draw several correlations between DMD/BMD genotype landscapes and mutation frequency, mutation types, mutation locations along the gene, exon/intron architecture, and relevant protein domain, with effects on population genetic characteristics and new personalized therapies
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