New research assessing the efficacy of optical genome mapping (OGM) in a group of patients with acute leukemia has demonstrated that OGM provided reliable and robust analytical performance with high sensitivity and specificity in detecting genetic alterations. In nearly 20% of cases, additional genetic variants were found that standard tests had missed. Although these current standard assays retain value in the diagnostic workflow, the study, appearing in The Journal of Molecular Diagnostics, published by Elsevier, shows that OGM offers an exceptional complement and can replace certain elements of the current testing algorithm.

Children born with single‑ventricle heart disease, a rare and serious heart defect, often undergo multiple surgeries in their first years of life. A new study shows the challenges for these children can last well into adolescence and sometimes throughout their lives.

People affected by human immunodeficiency virus (HIV), which causes AIDS, did not develop more severe forms of mpox — compared to HIV-negative people — during the multiregional outbreak of this disease that occurred in Spain in 2022. This is one of the main conclusions of an article published in the journal Scientific Reports, which analysed 1,158 confirmed cases of mpox in adult men. The cases were reported between June 2022 and January 2023 in seven autonomous communities. The population sample analysed in the study represents more than half of the cases recorded in Spain during this period.