The diagnosis of myeloid neoplasms (MN) has significantly evolved through the last few decades. Next Generation Sequencing (NGS) is gradually becoming an essential tool to help clinicians with disease management. To this end, most specialized genetic laboratories have implemented NGS panels targeting a number of different genes relevant to MN. The aim of the present study is to evaluate the performance of four different targeted NGS gene panels based on their technical features and clinical utility. A total of 32 patient bone marrow samples were accrued and sequenced with 3 commercially available panels and 1 custom panel. Variants were classified by two geneticists based on their clinical relevance in MN. There was a difference in panel's depth of coverage. We found 11 discordant clinically relevant variants between panels, with a trend to miss long insertions. Our data show that there is a high risk of finding different mutations depending on the panel of choice, due both to the panel design and the data analysis method. Of note, CEBPA, CALR and FLT3 genes, remains challenging the use of NGS for diagnosis of MN in compliance with current guidelines. Therefore, conventional molecular testing might need to be kept in place for the correct diagnosis of MN for now. OPEN ACCESS Citation: Aguilera-Diaz A, Vazquez I, Ariceta B, Mañú A, Blasco-Iturri Z, Palomino-Echeverría S, et al. (2020) Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design. PLoS ONE 15(1): e0227986. https://doi.org/10.

Objective: The HEPAFIT study was aimed at examining the impact of a 6-month physical education intervention, considering various levels of exercise intensity, on hepatic fat and cardiometabolic health outcomes in adolescents with excess adiposity.Methods: Adolescents (n = 120), 11-17 years with excess adiposity by body fat >30%, were randomly assigned to one of the following 4 groups for 6 months: (1) standard physical education lessons, control (CTRL); (2) high-intensity physical education (HIPE); (3) low-to-moderate intensity physical education (LIPE) and (4) combined HIPE and LIPE (PLUS). The primary outcome was hepatic fat content measured by vibration-controlled transient elastography (controlled attenuation parameter [CAP]). Secondary outcomes were traditional cardiovascular health markers (body composition, serum lipids, aminotransferases and health-related physical fitness components).

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