Publications by authors named "C Frater"
Article Synopsis
- * In a study involving 29 individuals, 90% reported ocular symptoms, with common issues being dryness, refractive errors, and infections; 62% used daily eye medications.
- * The study highlights the importance of specialized eye care and examinations for early diagnosis and management of vision-related problems in people with NGLY1 deficiency.
Background: Mucociliary clearance (MCC) is critical to lung health and is impaired in many diseases. The path of MCC may have an important impact on clearance but has never been rigorously studied. The objective of this study is to assess the three-dimensional path of human tracheal MCC in disease and health.
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- * A natural history study followed 29 patients for up to 32 months to assess the disease's clinical features; most showed significant developmental challenges and consistent issues with motor function and communication.
- * Findings from this study suggest important markers for future clinical trials, focusing on biomarker levels, cognitive assessments, motor skills, and quality of life as potential endpoints for evaluating treatments.
We delineated the phenotypic spectrum of epilepsy in individuals with NGLY1 deficiency from an international cohort. We collected detailed clinical and electroencephalographic data from 29 individuals with bi-allelic (likely) pathogenic variants in NGLY1 as part of an ongoing prospective natural history study. Participants were evaluated in-person at a single center and/or remotely.
View Article and Find Full Text PDFBackground And Objective: Glossopharyngeal insufflation (GI) is a technique practised by competitive breath-hold divers to enhance their performance. Using the oropharyngeal musculature, air is pumped into the lungs to increase the lung volume above physiological TLC. Experienced breath-hold divers can increase their lung volumes by up to 3 L.
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