THE IMPROVED DIASORIN Q-LAMP ASSAY FOR THE ACCURATE AND ULTRA-FAST DETECTION OF COMMON AND RARE ISOFORMS OF THE BCR-ABL1 TRANSLOCATION

The molecular detection of BCR-ABL1 transcripts by RT-PCR is mandatory for the diagnosis of Ph+ Leukemias at onset. Recently a faster and reliable assay based on the Q-LAMP technology developed by DiaSorin has entered in laboratory routine. This assay detects in one hour BCR-ABL1 p190 (e1a2) and p210 (e13a2, e14a2) isoforms. In this study, we evaluated the new improved Q-LAMP formulation designed to detect also less frequent isoforms of the BCR-ABL1 transcripts p190 and p210 (e1a3, e13a3, e14a3). In addition, clinical studies demonstrated that the assay is capable of detecting also the rare isoform p230 (e19a2, e19a3). Methods: The new Q-LAMP technology consists in a multiplex assay for the differential detection of p190 and p210 transcripts and the amplification of the GUSB endogenous RNA. The assay has been tested on 185 clinical samples including 95 p210 positive (57 e13a2 and 28 e14a2, 8 e13a3 and 2 e14a3), 38 p190 positive (33 e1a2 and 5 e1a3) and 50 BCR-ABL1 negative samples. Additional 2 p230 rare isoforms were also included in this study. All samples were previously tested by RT-PCR, considered as the reference method. Results: The new BCR-ABL Q-LAMP assay showed 100% concordance with the RT-PCR, with an expected delayed amplification time for rare isoforms respect to the common ones. The average amplification time of p210 common isoforms were 22,24 and 25,03 min compared to the p210 and p190 rare isoforms that showed 26,54 and 36,84 min, respectively. The 2 p230 (e19a2) rare isoforms were also tested and resulted valid although, due to the very long transcript, they showed a very high average amplification time (50 and 48 min). Moreover, we observed an interesting discrimination between the e13a2 and the e14a2 isoforms in terms of amplification times (20,21 versus 26,36 min) likely associated to the different length of the two transcripts, with low coefficients of variability (0,15 and 0,11 respectively). Conclusions: The enhanced BCR-ABL Q-LAMP assay well proved to detect both common and uncommon isoforms of the BCR-ABL1 translocation. This improved performances, combined with the speed and the close tube format, allow laboratories to optimize their workflow and represent a reliable solution for molecular diagnosis of Philadelphia Positive Leukemias

Tracking global evidence-to-policy pathways in the coronavirus crisis : a preliminary report

In February 2020, when many parts of world were taking unprecedented measures to try to control the spread of the SARS CoV-2 coronavirus, INGSA turned to its global community for help to understand the evolving situation. As always, INGSA is especially interested in the evidence that lies behind the various policy decisions, and the pathways from evidence-to-policy. Together with academic partners at the University of Auckland and the University of Sheffield, in collaboration with our IDRC-funded regional chapters, and with seed funding by the Fonds to de Recherche du Quebec and the World Universities Network, the INGSA executive and secretariat devised a mixed methods research project to examine the formulation of policy responses to the pandemic. Phase 1 of this project comprised ‘citizen’-social-science that harness the enthusiasm, expertise and local knowledge of over 100 volunteer rapporteurs from across the INGSA network globally. With their help and commitment, we launched the INGSA Evidence-to-Policy Tracker. Volunteers used an online data-entry form to log information about the evidence and decision-making dynamics behind their countries’ key Covid policy responses. The aim of this study is not to compare and assess the success of these interventions, but rather to compare the various ways in which evidence has been marshalled and applied. While there are now many useful trackers, INGSA complements these by seeking to unpack the formulation of evidence rather than to take it for granted, and to examine the evidence-to-policy pathways through this kind of tool

How nutrition and the maternal microbiota shape the neonatal immune system.

The mucosal surfaces of mammals are densely colonized with microorganisms that are commonly referred to as the commensal microbiota. It is believed that the fetus in utero is sterile and that colonization with microorganisms starts only after birth. Nevertheless, the unborn fetus is exposed to a multitude of metabolites that originate from the commensal microbiota of the mother that reach systemic sites of the maternal body. The intestinal microbiota is strongly personalized and influenced by environmental factors, including nutrition. Members of the maternal microbiota can metabolize dietary components, pharmaceuticals and toxins, which can subsequently be passed to the developing fetus or the breast-feeding neonate. In this Review, we discuss the complex interplay between nutrition, the maternal microbiota and ingested chemicals, and summarize their effects on immunity in the offspring