Diphtheria

An acute bacterial toxigenic infectious disease caused by gram-positive bacillus, Corynebacterium diphtheriae. Epidemiology Source: Secretions and discharges (infected person or carriers) Transmission: Droplet, secretions, direct contact Infection is spread solely among humans Portal of entry: Respiratory tract Incubation period: 2-5 days Microbiology Corynebacterium diphtheriae Nonmotile, noncapsulated, club-shaped, Gram-positive bacillus Pathogenicity due to: Ability to colonise…

Oculocerebrorenal syndrome of Lowe (OCRL)

Rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Also known as Lowe syndrome X-linked recessive inheritance Presentation Classical triad: Dense congenital bilateral cataract (hallmark feature) Severe intellectual impairment Renal tubular dysfunction with slowly progressive renal failure Other features: Postnatal growth retardation independent of kidney function…

Axial spondyloarthritis (axSpA)

Spondyloarthritis (SpA) encompasses a group of rheumatic disorders that share clinical, genetic and radiographic features and includes psoriatic arthritis, reactive arthritis and arthritis of inflammatory bowel disease (IBD).

Retinoblastoma

Rare cancer usually initiated by biallelic mutation of the retinoblastoma gene (RB1) in a single susceptible developing retinal cell.