Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study.

Background: Most children and adolescents infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remain asymptomatic or develop a mild coronavirus disease 2019 (COVID-19) that usually does not require medical intervention. However, a small proportion of pediatric patients develop a severe clinical condition, multisystem inflammatory syndrome in children (MIS-C). The involvement of epigenetics in the control of the immune response and viral activity prompted us to carry out an epigenomic study to uncover target loci regulated by DNA methylation that could be altered upon the appearance of MIS-C.

Prenatal Diagnosis of an Aortopulmonary Window With an Interrupted Aortic Arch.

A prenatal aortopulmonary window with an interrupted aortic arch was detected in a 22-week-old fetus. The 3-vessel and trachea view showed a communication between the ascending aorta and the pulmonary artery. Early postnatal surgery was successful.

Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation.

This report describes a three-generation family with a severe phenotype of long-QT syndrome-1 (LQTS-1) caused by a single nucleotide mutation in the KQT-like, voltage-gated potassium channel-1 gene (KCNQ1; MIM 607542). Two members of the family died suddenly in their childhood, and all eight surviving members with prolonged QT have a heterozygous missense mutation resulting in a glycine-to-glutamate amino acid substitution at position 316 of the potassium channel. In this family, the newly reported mutation, guanine-to-adenosine at position 947 in the KCNQ1 gene, exhibits a dominant trait of LQTS with complete penetrance, in contrast to the relatively reduced clinical penetrance found in most LQTS cases.