In recent years, pathogenic variants in ARS genes, encoding aminoacyl-tRNA synthetases (aaRSs), have been associated with human disease. Patients harbouring pathogenic variants in ARS genes have clinical signs partly unique to certain aaRSs defects, partly overlapping between the different aaRSs defects. Diagnosis relies mostly on genetics and remains challenging, often requiring functional validation of new ARS variants.
View Article and Find Full Text PDFMicrogravity in spaceflight produces headward fluid shifts which probably contribute to Spaceflight-Associated Neuro-Ocular Syndrome (SANS). Developing new methods to mitigate these shifts is crucial for preventing SANS. One possible strategy is the use of self-generated lower body negative pressure (LBNP).
View Article and Find Full Text PDFIntroduction: We previously reported that endoscopic repair of a Type 1 Laryngeal Cleft (LC1) or Deep Interarytenoid Groove (DIG) improves swallowing function postoperatively. However, caregivers often ask about the timeline to resolution of the need for thickening. This study re-examines this cohort to answer this important caregiver-centered question.
View Article and Find Full Text PDFFormulas, liquid nutrition, may be consumed orally or via a feeding tube to provide partial or complete nutrition that a given individual could not obtain using natural food stuffs in their native form. A wide range of commercially available formulas exist, which may be used as sole-source nutrition or in conjunction with other foods. Physicians and dietitians must understand the nature of and indications for specific formulas to treat diseases, provide complete nutrition to patients, and avoid harm.
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