Publications by authors named "M S Colgan"

The Health and Safety Execultive lymphoedema model of care was published in 2018 highlighting the lack of dedicated lymphoedema services in Ireland. This led to the introduction of a proof-of-concept primary care specialist lymphoedema clinic. The clinic was responsible for all patients from their county.

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Telemedicine is increasingly used in several fields of healthcare, including vascular medicine. This study aimed to investigate the views of experts and propose clinical practice recommendations on the possible applications of telemedicine in vascular medicine. A clinical guidance group proposed a set of 67 clinical practice recommendations based on the synthesis of current evidence and expert opinion.

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Article Synopsis
  • The COVID-19 pandemic accelerated the adoption of telemedicine in dermatology, prompting an analysis of its effectiveness within the Mayo Clinic system from January 2020 to January 2021.
  • A total of 13,181 televisits were conducted with an average patient age of 34.1 years, and most appointments utilized live video conferencing, though about 30% concluded with a single visit.
  • Results indicated that older patients were more likely to need follow-ups after initial visits, particularly with asynchronous methods, suggesting that live video might be more efficient for some patient encounters.
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  • The study focuses on identifying and characterizing structural variants (SVs) in cancer genomes, which are vital for cancer diagnostics and personalized medicine.
  • A consensus SV call set was created from a breast cancer cell line and matched normal control, discovering 1788 SVs including deletions, duplications, and translocations.
  • The accuracy of the SV call set was validated using several independent methods, highlighting the strengths and weaknesses of different next-generation sequencing (NGS) technologies for detecting these variations.
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Background: The use of a personalized haplotype-specific genome assembly, rather than an unrelated, mosaic genome like GRCh38, as a reference for detecting the full spectrum of somatic events from cancers has long been advocated but has never been explored in tumor-normal paired samples. Here, we provide the first demonstrated use of de novo assembled personalized genome as a reference for cancer mutation detection and quantifying the effects of the reference genomes on the accuracy of somatic mutation detection.

Results: We generate de novo assemblies of the first tumor-normal paired genomes, both nuclear and mitochondrial, derived from the same individual with triple negative breast cancer.

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