Bilateral evolution of OCT biomarkers in dry AMD: Long-term follow up study.

Purpose: To report the emergence and progress of four late-stage characteristics: incomplete retinal pigment epithelium and outer retinal atrophy (iRORA) and complete RPE and outer retinal atrophy (cRORA), drusen ooze and drusen collapse in eyes with dry age-related macular degeneration (AMD) using Spectral Domain Optical Coherence Tomography (SD-OCT).

Methods: This was a retrospective analysis of eyes with non-exudative AMD. Multimodal imaging was done at follow up visits ≤ 12 months.

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.

Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases, POI is syndromic in association with other features such as sensorineural hearing loss in Perrault syndrome. POI is a heterogeneous disease with over 80 causative genes known so far; however, these explain only a minority of cases.

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the mitoribosome synthesizes the 13 subunits of the mitochondrial oxidative phosphorylation (OXPHOS) system encoded by mitochondrial Deoxyribonucleic acid (DNA). We used multi-omics and gene matching to identify three unrelated individuals with biallelic variants in MRPL39 presenting with multisystem diseases with severity ranging from lethal, infantile-onset (Leigh syndrome spectrum) to milder with survival into adulthood.

Understanding the links between cardiovascular and psychiatric conditions.

Individuals recently diagnosed with a cardiovascular disease are at higher risk of developing a mental illness, with mortality increasing when both conditions are present.