Cell-cell interactions underlay organ formation and function during homeostasis. Changes in communication between cells and their surrounding microenvironment are a feature of numerous human diseases, including metabolic disease and neurological disorders. In the past decade, cross-disciplinary research has been conducted to engineer novel synthetic multicellular organ systems in 3D, including organoids, assembloids, and organ-on-chip models.
View Article and Find Full Text PDFBase editing introduces precise single-nucleotide edits in genomic DNA and has the potential to treat genetic diseases such as the blistering skin disease recessive dystrophic epidermolysis bullosa (RDEB), which is characterized by mutations in the COL7A1 gene and type VII collagen (C7) deficiency. Adenine base editors (ABEs) convert A-T base pairs to G-C base pairs without requiring double-stranded DNA breaks or donor DNA templates. Here, we use ABE8e, a recently evolved ABE, to correct primary RDEB patient fibroblasts harboring the recurrent RDEB nonsense mutation c.
View Article and Find Full Text PDFPeripheral arterial disease (PAD) is associated with cerebral and coronary artery disease. Symptomatic PAD affects about 5% of people over 55 years; many more have asymptomatic PAD. Early detection enables modification of arterial disease risk factors.
View Article and Find Full Text PDFThe Edinburgh Claudication Questionnaire (ECQ) was developed to help identify peripheral arterial disease (PAD) in the general population but has not been validated against diagnostic arterial imaging methods such as Duplex Vascular Ultrasound Scanning (DUS). In the present study, we assessed the accuracy of the ECQ for diagnosis using DUS. As part of a National Institute of Health Research funded project looking at novel diagnostic methods, 250 patients were studied from 15 general practices across North East England from May 2015 and November 2016.
View Article and Find Full Text PDFJ Prim Care Community Health
June 2021
Background: Approximately 20% of the UK population aged 55 to 75 years have evidence of peripheral arterial disease (PAD). PAD affects quality of life and life expectancy if not appropriately diagnosed and managed. At risk patients require accurate diagnosis to ensure optimal treatment to slow disease progression and minimize adverse outcomes.
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