Expert review of molecular diagnostics
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Expert Rev. Mol. Diagn. · Jun 2014
Observational StudyCost-effectiveness of blood culture and a multiplex real-time PCR in hematological patients with suspected sepsis: an observational propensity score-matched study.
We evaluated the costs and clinical outcomes of episodes of suspected sepsis in hematological patients. A propensity score-matched study was planned, comparing a retrospective cohort managed with standard assays and a prospective cohort managed with the addition of a molecular assay. Diagnostic procedures and therapy were considered as costs variables. ⋯ No difference in length of suspected sepsis episode was observed. Significant savings were observed in the prospective cohort, especially due to reduced costs in antifungal therapy. The apparently more expensive molecular assay favored a more rational use of economic resources without influencing, and probably improving, the clinical outcome.
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Expert Rev. Mol. Diagn. · Jan 2014
ReviewThe value of procalcitonin measurement in localized skin and skin structure infection, diabetic foot infections, septic arthritis and osteomyelitis.
Serum procalcitonin (PCT) is an established diagnostic marker for severe or systemic bacterial infections such as pneumonia, sepsis and septic shock. Data regarding the role of PCT in localized infections without systemic inflammatory response syndrome are scarce. The aim of this review is to assess the value of PCT measurements in localized infections such as skin and skin structure infections, diabetic foot infections, septic arthritis (SA) and osteomyelitis. ⋯ However, serum PCT could have a role in diagnosis and monitoring of diabetic foot infections in hospitalized settings. There are conflicting reports regarding the ability of serum PCT to distinguish SA from non-SA; synovial PCT may be more appropriate in these settings, including in implant-related infections. Better designed studies are needed to evaluate the usefulness of PCT with or without other biomarkers in localized infections.
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Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease characterized by progressive fibrosing interstitial pneumonia. The histological pattern, which displays dense fibrosis with active areas of fibroblastic proliferation, suggests a pathogenetic role of aberrant response to healing of multiple microscopic, repeated alveolar epithelial injuries. ⋯ The aim of this review is to describe the genetic background of IPF, reporting the latest advancements made possible by genomic techniques that allow a high-throughput analysis and the identification of target genes implicated in IPF. This information may help to clarify pivotal aspects on prognosis and diagnosis, and may help to identify potential targets for future therapies.
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Expert Rev. Mol. Diagn. · Jun 2012
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Clinical characteristics of patients are not always related to specific syndromes. Array-comparative genomic hybridization (aCGH) is used to detect submicroscopic copy number variants within the genome not visible by conventional karyotyping. ⋯ Many of the patients had also received a variety of other genetic tests (Fragile X syndrome, Rett syndrome, single FISH tests or metabolic screens), which were normal. Clinically significant submicroscopic imbalances with aCGH were detected in 84 (∼25.15%) patients. aCGH is proving to be a powerful tool for the identification of novel chromosomal syndromes, thus allowing accurate prognosis and phenotype-genotype correlations.