Publications by authors named "N G Stoodley"
Unlabelled: Rate and severity of radiological features of physical abuse in children during the first UK-wide COVID-19 enforced national lockdown.
Objective: To assess the number, type and outcome of radiological investigations for children presenting to hospital with suspected physical abuse (SPA; including abusive head trauma) during the first national COVID-19 enforced lockdown compared with the prelockdown period.
Design: Multicentre, retrospective, observational, interrupted time series analysis.
One of the most challenging areas of radiological imaging in children is the diagnosis of physical abuse. There is a dearth of paediatric radiologists willing to act as expert witnesses, particularly in the family courts. There are a number of reasons why radiologists may not be interested or willing to put themselves forward to work as expert witnesses in this field.
View Article and Find Full Text PDFThe gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functions during neurogenesis, neuronal migration, and cortical organisation. Mutations in have been reported to cause a range of brain malformations.
View Article and Find Full Text PDFAims: To develop an expert consensus statement regarding appropriate clinical and forensic post mortem neurological imaging.
Methods: An expert panel of clinicians were recruited from registered members of the British Neuropathological Society (BNS) and the International Society of Forensic Radiology and Imaging (ISFRI) with post mortem expertise. Following a focus group meeting, 16 core statements were incorporated into an online modified Delphi survey and each panellist was asked to score their level of agreement.
Article Synopsis
- Polymicrogyria is a brain development disorder whose causes are not well understood, but recent research identified specific mutations in the GRIN1 gene in patients with the condition.
- Two of 57 parent-child pairs showed de novo GRIN1 mutations, and additional mutations were found in other patients with cortical malformations, all linked to severe developmental issues.
- The identified mutations affect the N-methyl-d-aspartate receptor's function, showing unexpected changes in activity, which enhances understanding of the genetic basis and biological mechanisms involved in polymicrogyria.