Publications by authors named "Nynke Jorna"
A 33-year-old pregnant, Indian woman presented with acute confusion initially interpreted as symptomatic hyponatraemia from SIADH. She was later diagnosed with disseminated tuberculosis and meningoencephalitis. X-ray showed signs of TB after chronic cough was revealed.
View Article and Find Full Text PDFArticle Synopsis
- - The study aimed to detect and measure mutant huntingtin (mHTT) levels in tear fluid from individuals with Huntington's disease (HD), a genetic neurodegenerative disorder.
- - Researchers recruited 53 participants (20 manifest HD patients, 13 premanifest carriers, and 20 controls) and found significantly higher levels of mHTT in tears from HD patients compared to controls, with established cutoff values for diagnosis.
- - The findings suggest that measuring mHTT in tear fluid could serve as an early, noninvasive method for diagnosing HD and monitoring disease progression, making it useful for clinical trials and routine diagnostics.