👤 Jesús García-Gómez

Acute lymphoblastic leukemia (ALL) is a genetically heterogeneous disease where current clinical practice guidelines remain focused on traditional cytogenetic markers. Despite recent advances demonstrating excellent diagnostic accuracy for gene expression signatures, a discontinuity exists between biomarker validation and clinical implementation. This study aimed to develop and validate a multiparametric gene expression signature using digital PCR (dPCR) to accurately diagnose pediatric ALL, with potential utility for monitoring measurable residual disease (MRD). We analyzed 130 bone marrow aspirates from pediatric patients from four clinical groups: non-leukemia, MRD-negative, MRD-positive and leukemia characterized by immunophenotype. Gene expression of an 8-gene panel ( Show less

The atherogenicity of a lipoprotein (a) particle [Lp(a)] appears to be at least 5 times higher than that of apolipoprotein B (apoB)-containing lipoproteins other than Lp(a) [non-Lp(a) apoB]. The non-Lp(a) apoB/Lp(a) ratio could be considered an indicator of the relative atherogenic contribution of each lipoprotein group. Our aim was to evaluate the non-Lp(a) apoB/Lp(a) ratio in patients with acute coronary syndrome (ACS) and the clinical features associated with this ratio. Observational study of hospitalised patients with ACS and obstructive coronary artery disease, in whom the molar concentration (nmol/l) of apoB and Lp(a) was determined. Non-Lp(a) apoB was calculated by subtracting Lp(a) from apoB, as well as the ratio of non-Lp(a) apoB/Lp(a), which, depending on whether it was >5 or ≤5, was considered suggestive of greater atherogenic liability of non-Lp(a) apoB or Lp(a), respectively. We included 420 patients (22.4 % female; 65.5 ± 12.0 years). Lp(a) was ≤125 nmol/L in 301 (71.7 %), in all of them the non-Lp(a) apoB/Lp(a) ratio was >5. On the other hand, Lp(a) was >125 nmol/L in 119 patients (28.3 %) and, in this group, the non-Lp(a) apoB/Lp(a) ratio was ≤5 in 47 (39.5 %). In contrast to Lp(a) levels >125 nmol/l, non-Lp(a) apoB/Lp(a) ratio ≤5 was independently associated with multivessel coronary artery disease (OR = 2.317; CI95 %, 1.051-5109; p = 0.037). In patients with ACS, even those with elevated Lp(a), a non-Lp(a) apoB/Lp(a) ratio >5 prevails, suggesting greater atherogenic contribution of non-Lp(a) apoB. The predominance of Lp(a) atherogenic responsibility is associated with multivessel coronary artery disease. Show less