Examinando por Autor "G. Musso, Carlos"
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Ítem Atypical hemolytic uremic syndrome: a nationwide Colombian pediatric series(Research Square Company, 2023) Espitaleta, Zilac; Domínguez-Vargas, Alex; Villamizar-Martínez, Johanna; Carrascal-Guzmán, Martha; Guerrero-Tinoco, Gustavo; Silva-Diaz, Diana; Baquero, Richard; Pinto-Bernal, Claudia; González-Chaparro, Luz; Rojas-Rosas, Luisa; Amado-Niño, Pilar; Castillo-Arteaga, Mariángel; Alvarez-Gomez, Yeferson; Arguello-Muñoz, Laura; Morales-Camacho, William; León-Guerra, Oscar; Egea, Eduardo; Galeano-Rodríguez, Ricardo; Quintero-Gómez, Ana; Aroca-Martínez, Gustavo; G. Musso, CarlosBackground Atypical hemolytic uremic syndrome (aHUS) is a rare complement-mediated kidney disease with genetic predisposition and represents up to 10% of pediatric hemolytic uremic syndrome (HUS) cases. Few studies have evaluated aHUS in Latin American population. We studied a Colombian pediatric cohort to delineate disease presentation and outcomes. Methods A multicenter cohort of 27 Colombian children with aHUS were enrolled between 2010 to 2019. Patients were grouped by age at onset. Clinical features were compared using analysis of variance (ANOVA) and Fisher exact tests. Renal biopsy was performed on six patients who were suspected of having other renal diseases before aHUS diagnosis. Results Most patients were male (70%). The onset of aHUS occurred frequently before age 4 years (60%) and followed gastroenteritis as the main triggering event (52%). Age groups were comparable in clinical presentation, disease severity, treatment, and outcomes. Pulmonary involvement (67%) was the main extrarenal manifestation. A higher frequency was observed in the 1–7 age group (p = 0.01). Renal biopsies were as follows: three had membranoproliferative glomerulonephritis (MPGN) type I, one MPGN type III, one C3-glomerulonephritis, and one rapidly progressive glomerulonephritis. Genetic screening was available in five patients and identified 2xCFHR5, 2xMCP, and 1xADAMTS-13/THBD mutations. A total of 15 relapses were seen, of which 8 (72%) occurred in the 1–7 age group. The renal outcome was not significantly different regardless of age group. Conclusion In our cohort, we observed a relatively high frequency of extrarenal involvement at first presentation represented by pulmonary manifestations. The renal prognosis at initial presentation was worse than in previous reports.Ítem Epigenetic mechanisms and posttranslational modifications in systemic Lupus Erythematosus(Multidisciplinary Digital Publishing Institute (MDPI), 2019) Navarro Quiroz, Elkin; Chavez-Estrada, Valeria; Macias-Ochoa, Karime; Ayala-Navarro, María Fernanda; Flores-Aguilar, Aniyensy Sarai; Morales-Navarrete, Francisco; De la Cruz Lopez, Fernando; Gomez Escorcia, Lorena; G. Musso, Carlos; Aroca Martinez, Gustavo; Gonzales Torres, Henry; Diaz Perez, Anderson; Cadena Bonfanti, Andres; Sarmiento Gutierrez, Joany; Meza, Jainy; Diaz Arroyo, Esperanza; Bello Lemus, Yesit; Ahmad, Mostapha; Navarro Quiroz, RobertoThe complex physiology of eukaryotic cells is regulated through numerous mechanisms, including epigenetic changes and posttranslational modifications. The wide-ranging diversity of these mechanisms constitutes a way of dynamic regulation of the functionality of proteins, their activity, and their subcellular localization as well as modulation of the di erential expression of genes in response to external and internal stimuli that allow an organism to respond or adapt to accordingly. However, alterations in these mechanisms have been evidenced in several autoimmune diseases, including systemic lupus erythematosus (SLE). The present review aims to provide an approach to the current knowledge of the implications of these mechanisms in SLE pathophysiology.