An update on current and novel molecular diagnostics for the diagnosis of invasive fungal infections
Expert Rev Mol Diagn. 2023 Oct 6. doi: 10.1080/14737159.2023.2267977. Online ahead of print.ABSTRACTBACKGROUND: Invasive fungal infections cause millions of infections annually, but diagnosis remains challenging. There is an increased need for low-cost, easy to use, highly sensitive and specific molecular assays that can differentiate between colonized and pathogenic organisms from different clinical specimens.AREAS COVERED: We reviewed the literature evaluating the current state of molecular diagnostics for invasive fungal infections, focusing on current and novel molecular tests such as polymerase chain reaction (PCR), d...
Source: Expert Review of Molecular Diagnostics - October 6, 2023 Category: Laboratory Medicine Authors: Jeffrey D Jenks P Lewis White Sarah E Kidd Tyler Goshia Stephanie I Fraley Martin Hoenigl George R Thompson Source Type: research

Clinical application of circulating tumor DNA in metastatic cancers
Expert Rev Mol Diagn. 2023 Oct 5. doi: 10.1080/14737159.2023.2268008. Online ahead of print.ABSTRACTINTRODUCTION: Advances in genomics have facilitated the application of cell-free DNA (cfDNA) and circulating tumor DNA (ctDNA) in phase II and phase III clinical trials. The various mutations of cfDNA/ctDNA have been correlated with clinical features. Advances in next-generation sequencing (NGS) and digital droplet PCR have paved the way for identifying cfDNA/ctDNA mutations.AREAS COVERED: Herein, the biology of ctDNA and its function in clinical application in metastasis, which may lead to improved clinical management of me...
Source: Expert Review of Molecular Diagnostics - October 5, 2023 Category: Laboratory Medicine Authors: Negin Raei Reza Safaralizadeh Saeid Latifi-Navid Source Type: research

Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast heterogeneous DMD gene variants
CONCLUSIONS: Some 50% of hyperCKemia cases were characterized as dystrophinopathies, highlighting that DMD variants may be considered the most common cause of hyperCKemia in Greece. Delineation of the broad genetic and clinical heterogeneity is fundamental for actionable public health decisions and theragnosis, as well as the establishment of guidelines addressing ethical considerations, especially related to the mild asymptomatic patient subgroup.PMID:37754746 | DOI:10.1080/14737159.2023.2264181 (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - September 27, 2023 Category: Laboratory Medicine Authors: Kyriaki Kekou Maria Svingou Nikos Vogiatzakis Evangelia Nitsa Danai Veltra Nikolaos M Marinakis Faidon-Nikolaos Tilemis Maria Tzetis Anastasios Mitrakos Charalambia Tsaroucha Nicoletta Selenti Giorgos-Konstantinos Papadimas Constantinos Papadopoulos Joann Source Type: research