Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2092758
Abstract: ABSTRACT Background MFSD8 mutations can cause type 7 neuronal ceroid lipofuscinosis, a systemic disorder that includes vision loss; however, such mutations can also cause isolated retinal dystrophy with vision loss without systemic signs or symptoms… read more here.
Keywords: dystrophy; causing non; macular dystrophy; adult onset ... See more keywords
Propionibacterium acnes causing non-contiguous, multifocal spondylodiscitis in an immunosuppressed patient
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-242420
Abstract: This report describes a case of a spondylodiscitis in an immunocompromised patient with an HIV infection caused by Propionibacterium acnes. The patient was admitted to hospital with a sudden loss of motor function and sensation… read more here.
Keywords: propionibacterium acnes; acnes causing; causing non; non contiguous ... See more keywords