AbstractBackgroundGenomic alterations studies in cell-free DNA (cfDNA) have increasing clinical use in oncology. Next-generation sequencing (NGS) technology provides the most complete mutational analysis, but nowadays limited data are available related to the comparison of results reported by different platforms. Here we compare two NGS panels for cfDNA: Oncomine™ Pan-Cancer Cell-Free Assay (Thermo Fisher Scientific), suitable for clinical laboratories, and Guardant360® (GuardantHealth), with more genes targeted but only available in an outsourcing laboratory.MethodsPeripheral blood was obtained from 16 advanced cancer patients in which Guardant360® (G360) was requested as part of their clinical assistance. Blood samples were sent to be analyzed with G360 panel, and an additional blood sample was drawn to obtain and analyze cfDNA with Oncomine™ Pan-Cancer (OM) panel in an Ion GeneStudio S5™ System.ResultscfDNA analysis globally rendered 101 mutations. Regarding the 55/101 mutations claimed to be included by manufacturers in both panels, 17 mutations were reported only by G360, 10 only by OM and 28 by both. In those coincident cases, there was a high correlation between the variant allele fractions (VAFs) calculated with each panel (r = 0.979, p < 0.01). Regarding the six actionable mutations with an FDA-approved therapy reported by G360, one was missed with OM. Also, 12 mutations with clinical trials available were reported by G360 but not by OM.ConclusionsIn summary, G360 and OM can produce different mutational profile in the same sample, even in genes included in both panels, which is especially important if these mutations are potentially druggable.
ObjectivesLactose malabsorption is generally assessed by hydrogen breath testing (HBT). However, this test is not recommended in patients with high baseline hydrogen concentrations (H2B). In addition, breath testing is not recommended in the current situation created by the COVID-19 pandemic, due to the potential infectiveness of the samples. The objective is to assess concordance between HBT and lactose tolerance test (LTT) depending on H2B concentrations.MethodsA total of 430 patients (40 years, Q1–Q3 = 28–54 years; 66.7% women) suspected of lactose malabsorption were included in the study. Breath and heparinized blood samples were collected at baseline and sequentially after the intake of 50 g of lactose, to measure hydrogen in breath and glycemia in blood, respectively.ResultsH2B was <10 ppm in 69.5% of subjects; 10–20 ppm in 14.7%; and >20 ppm in 15.8% of subjects. In patients with H2B <20 ppm, concordance between HBT and LTT was moderate and consistently improved when the cut-off in LTT was set at 15 mg/dL. The increase in hydrogen and glucose correlated negatively (r=−0.389; p<0.05). The increase in glycemia during LTT was not influenced by H2B levels obtained in HBT.ConclusionsLTT emerges as an alternative to HBT to assess lactose malabsorption in the presence of high H2B levels or when breath testing is not recommended by the circumstances. The best concordance was obtained when the cut-off for LTT was set at 15 mg/dL.
Predictive value of hyperglycosylated human chorionic gonadotropin for pregnancy outcomes in threatened abortion in first-trimester viable pregnanciesValor predictivo de la hCG hiperglosilada para predecir resultado de la gestación en amenaza de aborto de primer trimestre en gestación viable
ResumenObjetivosLa malabsorción de lactosa se estudia habitualmente mediante el test de hidrógeno espirado (HBT), aunque su realización no es recomendable cuando la concentración de hidrógeno basal (H2B) es elevada. Además, la situación actual en relación con el SARS-CoV-2 puede hacer desaconsejable el manejo de muestras de aliento. Objetivo: Evaluar la concordancia del HBT y el test de tolerancia a la lactosa (TTL) en función del H2B.MétodosSe estudiaron 430 pacientes (40 años, Q1–Q3 = 28–54 años; 66,7% mujeres) con sospecha de malabsorción de lactosa. Se recogieron basalmente y secuencialmente tras la administración de lactosa, muestras de aliento para medir el hidrógeno espirado y de sangre heparinizada para medir la glucemia.ResultadosEl 69,5% de los pacientes tenían H2B <10 ppm, el 14,7% valores entre 10 y 20 ppm, y el 15,8% >20 ppm. En los pacientes con H2B <20 ppm la concordancia entre el HBT y el TTL era moderada, mejorando siempre al emplear un punto de corte de 15 mg/dL en el TTL. El incremento de hidrógeno y el de glucosa correlacionaron negativamente (r=−0,389; p<0,05). El aumento observado en la glucemia durante el TTL no variaba en función de los niveles de H2B registrados en el HBT.ConclusiónesEl TTL puede ser una alternativa al HBT para evaluar la malabsorción de lactosa cuando los niveles de H2B sean elevados o las circunstancias desaconsejen el manejo de muestras de aliento. La mejor concordancia se observa cuando se toma como punto de corte en el TTL de 15 mg/dL.
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