2 results match your criteria: "Nuevo Hospital San Antonio de Padua[Affiliation]"
Article Synopsis
- This study conducts the first large-scale genetic analysis of inherited eye diseases in Argentina, involving a retrospective analysis of medical records from 22 ophthalmology and genetics services across 13 provinces, including 773 patients primarily with inherited retinal diseases.* -
- The most prevalent condition identified was retinitis pigmentosa (RP), comprising 62% of cases, with the most commonly affected genes being USH2A, RPGR, and ABCA4, which are linked to various types of retinal dystrophies.* -
- Notably, the research uncovered 35% of previously unreported pathogenic variants, highlighting the genetic diversity in inherited eye diseases in Argentina and establishing a foundational reference for future studies and clinical applications.*
[Pulmonary alveolar proteinosis: report of two cases and review of the literature].
Rev Fac Cien Med Univ Nac Cordoba
September 2010
Servicios de Clínica Medica, Anatomía Patológica y Cirugía de tórax, Nuevo Hospital San Antonio de Padua, Rio Cuarto, Córdoba, Argentina.
Pulmonary alveolar proteinosis is a rare disease characterized by extensive radiological and tomographic pulmonary lesions and a variable clinical picture ranging from pulmonary insufficiency to spontaneous remission. Among its three described forms, the so called Idiopathic or Adult form is responsible for more than 80% of published cases. It's physiopathology depends on an autoimmune process directed against the GM-CSF (Granulocite Macrophage- Colony Stimulating Factor) that induces a functional defect of the macrophage with consequent intraalveolar accumulation of surfactant.
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