Prenatal Diagnosis of Nonsyndromic Craniosynostosis: A Scoping Review.

Craniosynostosis is rarely diagnosed in utero. Prenatal diagnosis has the potential to improve patient outcomes and streamline care, however, and is becoming more feasible as technology improves. The objective of this study is to examine existing literature on prenatal diagnosis of nonsyndromic craniosynostosis.

Stratified Medicine Paediatrics: Cell free DNA and serial tumour sequencing identifies subtype specific cancer evolution and epigenetic states.

We profiled a large heterogenous cohort of matched diagnostic-relapse tumour tissue and paired plasma-derived cell free DNA (cfDNA) from patients with relapsed and progressive solid tumours of childhood. Tissue and cfDNA sequencing results were concordant, with a wider spectrum of mutant alleles and higher degree of intra-tumour heterogeneity captured by the latter, if sufficient circulating tumour-derived DNA (ctDNA) was present. Serial tumour sequencing identified putative drivers of relapse, with alterations in epigenetic drivers being a common feature.

Establishing reference ranges for circulating biomarkers of drug-induced liver injury in healthy human volunteers.

Aims: The potential of mechanistic biomarkers to improve prediction of drug-induced liver injury (DILI) and hepatic regeneration is widely acknowledged. We sought to determine reference intervals for new biomarkers of DILI and regeneration, as well as to characterize their natural variability and impact of diurnal variation.

Methods: Serum samples from 227 healthy volunteers were recruited as part of a cross-sectional study; of these, 25 subjects had weekly serial sampling over 3 weeks, while 23 had intensive blood sampling over a 24h period.

High-Throughput Single-Cell Analysis of Vaccinia Virus Infection.

Here, we describe a robust and flexible method for analyzing the infection of single cells with a fluorescent-reporter virus, with real-time tracking of infected cells through microscopy. We subsequently generate quantitative data from the resulting time-lapse microscopy, and harness these data to generate biologically meaningful parameters at scale. Our methodology offers a practical solution for researchers seeking to understand the complexities and variability of virus-host interactions at a granular level.

Management of Ganglioneuroma and Ganglioneuroblastoma Intermixed: A United Kingdom Children's Cancer and Leukaemia Group (UK CCLG) Nationwide Study Report.

Background: Ganglioneuroblastoma intermixed (GNBi) and ganglioneuroma (GN) represent benign variants of peripheral neuroblastic tumours. While historically surgical resection was recommended, watchful active observation has become the accepted management for a subset of patients.

Objectives: To review clinical features, biology, natural history and management of a retrospective UK CCLG study cohort of GN and GNBi, and compare outcomes of patients treated with surgical resection or watchful active observation.