Publications by authors named "M R Metelli"
Article Synopsis
- IDH1 and IDH2 mutations contribute to cancer development, particularly in 20% of acute myeloid leukemias (AML), leading to the need for IDH2 mutational screening with the advent of the inhibitor Enasidenib.
- A new technique called drop-off digital droplet PCR (ddPCR) was developed to accurately detect IDH2 mutations and was tested on 60 AML patients, revealing a higher mutation detection rate compared to traditional methods.
- While ddPCR shows promise for rapid screening of IDH2 mutations, its effectiveness as a marker for minimal residual disease (MRD) in AML is still under discussion.
Background: In addition to morphological and cytogenetic features, acute myeloid leukemias are characterized by mutations that can be used for target-therapy; also the minimal/measurable residual disease (MRD) could be an important prognostic factor. The purpose of this retrospective study was to investigate if somatic mutations could represent an additional prognostic value in respect of MRD alone.
Method: At baseline, 98 patients were tested for , , and for expression; 31 for , , , , -, , -, , and .
In this study we present a new diagnostic workup for the myelodysplastic syndromes (MDS) including FISH, aCGH, and somatic mutation assays in addition to the conventional cytogenetics (CC). We analyzed 61 patients by CC, FISH for chromosome 5, 7, 8 and PDGFR rearrangements, aCGH, and PCR for ASXL1, EZH2, TP53, TET2, RUNX1, DNMT3A, SF3B1 somatic mutations. Moreover, we quantified WT1 and RPS14 gene expression levels, in order to find their possible adjunctive value and their possible clinical impact.
View Article and Find Full Text PDFPurpose: To evaluate the accuracy of the imminent brain death (IBD) diagnosis in predicting brain death (BD) by daily assessment of the Full Outline of Unresponsiveness (FOUR) score and the Glasgow Coma Scale (GCS) with the assessment of brain stem reflexes.
Materials And Methods: Prospective multicenter pilot study carried out in 5 adult Italian intensive care units (ICUs). Imminent brain death was established when the FOUR score was 0 (IBD-FOUR) or the GCS score was 3 and at least 3 among pupillary light, corneal, pharyngeal, carinal, oculovestibular, and trigeminal reflexes were absent (IBD-GCS).
Background: The balance between matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) is important in the regulation of airway damage.
Objective: To evaluate whether they are important in the pathophysiology of primary and secondary ciliary dyskinesia (PCD, SCD).
Methods: We measured sputum bacteriology, lung CT changes, MMPs, TIMPs and lung function in 86 patients (51 PCD, 35 SCD) in a cross-sectional study; the 10 controls studied did not have HRCT or sputum cultures.