A more complete map of the pattern of genetic variation among inbred mouse strains is essential for characterizing the genetic architecture of the many available mouse genetic models of important biomedical traits. Although structural variants (SVs) are a major component of genetic variation, they have not been adequately characterized among inbred strains due to methodological limitations. To address this, we generated high-quality long-read sequencing data for 40 inbred strains; and designed a pipeline to optimally identify and validate different types of SVs.
View Article and Find Full Text PDFRetin Cases Brief Rep
January 2025
Purpose: To report a rare case of Multicentric Castleman's Disease presenting with bilateral panuveitis.
Methods: Case report.
Results: A 65-years-old caucasian man presented with progressive blurred vision in both eyes for two weeks, along with weight loss, polyarthralgias and reduced muscle strength persisting for about a year.
Breast-conserving surgery accompanied by adjuvant radiotherapy is the standard of care for patients with early-stage breast cancer. However, re-excision is reported in 20-30 % of cases, largely because of close or involved tumor margins in the specimen. Several intraoperative tumor margin assessment techniques have been proposed to overcome this issue, however, none have been widely adopted.
View Article and Find Full Text PDFArch Dis Child Educ Pract Ed
January 2025
Transformative changes in the health of children with cystic fibrosis (CF) mean that more sensitive outcome measures are needed to monitor paediatric CF lung disease. Multiple breath washout (MBW) and its primary readout lung clearance index are gaining increasing traction as an endpoint for clinical trials in the CF space and show promise as a clinical investigation. In this article, we use four clinically based questions to explore what MBW can and cannot (yet) do and highlight some of its strengths and weaknesses as an investigation.
View Article and Find Full Text PDFBackground/objectives: Perceptions and barriers to myopia management (MM) in childhood have not been fully explored within some countries, including the UK, where there is minimal public health education on myopia.
Methods: The aim of this mixed-methods study was to explore perceptions of myopia and MM interventions using focus groups and a survey to obtain qualitative and quantitative data. Topics included the understanding of myopia, perceptions of MM, considerations when initiating MM, lifestyle risk factors, and barriers to uptake of intervention.