Publications by authors named "M C Morel-Kopp"

Immune-mediated heparin-induced thrombocytopenia (HIT) occurs when heparin-dependent IgG antibodies bind to heparin/platelet factor 4 (H/PF4) complexes and activate platelets. There is a vast panoply of assays to investigate HIT which can be divided into two groups, antigen-based immunoassays that detect all antibodies against H/PF4 and are used as a first diagnostic step and functional assays that will identify only the antibodies capable of activating platelets and are mandatory to confirm a diagnosis of pathological HIT. The serotonin-release assay, known as SRA, has been the gold standard for decades, but in the last 10 years, other easier alternatives have been described.

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Article Synopsis
  • Whole genome sequencing (WGS) shows better diagnostic results for Mendelian disorders than whole exome sequencing (WES), with a diagnostic yield of 34% in previously WES-negative families compared to 18% for reanalyzed WES.
  • The cost-effectiveness analysis revealed that using WGS alone has a higher incremental cost per additional diagnosis (AU$41,916) compared to WES followed by WGS (AU$36,710) and WGS as a first-line test (AU$29,708).
  • Despite WGS's superior diagnostic ability, the choice between WES and WGS ultimately hinges on specific clinical needs, local resources, and testing availability, as WES with reanalysis offers lower
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Identification of disordered platelet function is important to guide peri-operative bleeding management as well as long term treatment and prognostic strategies in individuals with platelet bleeding disorders. Light transmission aggregometry (LTA), the current gold standard diagnostic test of platelet function is a time consuming technique almost exclusively performed in specialised laboratories and almost universally unavailable in regional centres in Australia, where there is an unmet need for access to specialised platelet function diagnostic services. 96-well plate-based aggregometry (Optimul, UK), has been utilised in research laboratories as a novel platform to investigate platelet function.

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The use of mean platelet diameter (MPD) to classify inherited thrombocytopenia (IT) has been demonstrated in several studies. Alternatively, the mean platelet volume (MPV) may be used, but in macrothrombocytopenia this may not be available. We hypothesized that platelet forward scatter (FSC) measurements using flow cytometry may be used for the size-based classification of IT.

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