Publications by authors named "Karoline Ornig"
Article Synopsis
- - X-linked myotubular myopathy (XLMTM) is a rare genetic condition that mainly affects newborns and infants, leading to high mortality due to severe muscle weakness and breathing issues, though some patients may have milder cases and survive into adulthood with noticeable facial differences.
- - The study examined genetic variations in XLMTM patients to find connections between their specific gene mutations and the severity of their symptoms, studying a cohort of 414 patients and using facial recognition technology (Face2Gene) to analyze distinguishable facial traits between patients and healthy individuals.
- - Results indicated severe symptoms were linked to certain serious genetic mutations, while milder cases were associated with less severe mutations; additionally, Face2Gene successfully identified differences
Background: Gastrointestinal tuberculosis (TB) is a rare manifestation in low TB-incidence countries such as Austria. It is usually seen in immunocompromised patients or in migrants being more susceptible for extrapulmonary disease manifestations.
Case Description: We report a very rare manifestation of severe gastrointestinal TB in a 49-year-old previously healthy man from Upper Austria.