Importance: Previous studies have identified familial exudative vitreoretinonpathy (FEVR) in patients with CTNNB1 syndrome based on severe congenital ocular phenotypes. However, ophthalmoscopy may not be sufficient to detect vision-threatening vitreoretinopathy in all patients.
Objective: To report a consecutive retrospective case series of 11 patients with CTNNB1 variants who had previously unremarkable ophthalmoscopic examination results and to describe their detailed ophthalmic phenotypes.
Background: Atrial fibrillation (AF) is the most common performance limiting arrhythmia in racehorses. High dose exercise and airway disease promote AF in humans. Few studies have investigated epidemiological factors associated with AF in horses.
View Article and Find Full Text PDFSidelying hip abduction (SHA) is a common exercise utilized in rehabilitation to strengthen the gluteus medius (GMed). Alterations in the exercise can produce different patterns of muscular activity. No studies have examined the effect of mechanical pelvic stabilization during SHA.
View Article and Find Full Text PDFBackground: Vitamin A is vital to retinal rod function and epithelial cell differentiation. Although uncommon in the developed world, vitamin A deficiency (VAD) secondary to poor diets or gastrointestinal disease has been reported and can lead to xerophthalmia, which is characterized by night blindness and a spectrum of ocular surface changes. Patients with autism spectrum disorder have been shown to have restrictive diets secondary to sensory issues leading to rejection of foods except for those of certain color or texture.
View Article and Find Full Text PDFThe administration of alkalinising agents including bicarbonate is of concern to racing authorities because resultant alkalosis may enhance performance and interfere with the detection of drugs in post-race urine. A threshold for total carbon dioxide (TCO ) of 36.0 mmol/L in plasma (with action limit of 37.
View Article and Find Full Text PDFCJC-1295 is a 30 amino acid peptide-based drug that stimulates the release of growth hormone (GH) from the pituitary gland. It is unique among performance-enhancing peptides due to the presence of a reactive maleimidopropionic acid group that covalently links the peptide to free thiols on the surface of plasma proteins. Once conjugated, CJC-1295 remains active in the bloodstream for significantly longer than non-conjugated peptide-based drugs that are rapidly excreted.
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