Publications by authors named "E W MCCHESNEY"
Article Synopsis
- Bartter syndrome is a rare genetic disorder affecting kidney function by impairing electrolyte reabsorption, leading to potentially fatal conditions like hyponatremia and dehydration, with type II linked to mutations in the KCNJ1 gene.
- The study focused on identifying new, uncharacterized mutations in KCNJ1 that may cause disease by using genomic databases and advanced computational tools to analyze phenotypic and genomic data, particularly from the UK Biobank, NIH TOPMed, and ClinVar.
- Two mutations were highlighted: G228E, which destabilizes the potassium channel ROMK and leads to its degradation, and T300R, which is resistant to ER degradation but shows impaired channel activity, suggesting that these findings can help
Article Synopsis
- Bartter syndrome is a rare genetic disorder affecting kidney function by disrupting electrolyte reabsorption, leading to severe health issues if untreated, including fatal hyponatremia and hypokalemia.
- The study focuses on Bartter syndrome type II, which is linked to mutations in the ROMK gene; researchers identified over 40 associated mutations but most remain poorly understood.
- Utilizing genomic databases and computational tools, the study discovered four new mutations in ROMK that affect its stability and function, with some mutations leading to premature degradation of the protein while others demonstrated resistance to degradation.
Article Synopsis
- Breast cancer rates are increasing in low- and middle-income countries due to a lack of affordable treatment options, leading to higher cancer burdens and death rates.
- Researchers designed a low-cost cryoablation system that utilizes carbon dioxide, an easily accessible resource, to effectively destroy tumor tissue.
- Experiments on rat and pig models confirmed that this system can create significant necrosis in tumors, demonstrating its potential as a viable treatment option in resource-limited settings.
Introduction Tonsillopharyngitis is the most common ear, nose and throat emergency admission, with 80,000 episodes recorded in England in 2015-2016. Despite this, there is a paucity of evidence addressing the supportive management of tonsillopharyngitis in inpatients. The aim of this retrospective multicentre observational study was to consider the Best Supportive Management for Adults Referred with Tonsillopharyngitis (BeSMART) in the inpatient setting, and to establish any associations between practice and outcomes.
View Article and Find Full Text PDFAntimicrobial peptides are a promising alternative to traditional antibiotics, but their utility is limited by high production costs and poor bioavailability profiles. Bacterial production and delivery of antimicrobial peptides (AMPs) directly at the site of infection may offer a path for effective therapeutic application. In this study, we have developed a vector that can be used for the production and secretion of seven antimicrobial peptides from both Escherichia coli MC1061 F' and probiotic E.
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