Publications by authors named "Silene M Silvera-Ruiz"
Article Synopsis
- The study investigates cellular immunity responses against SARS-CoV-2 among patients in Córdoba, Argentina, during two distinct waves of the pandemic that featured different viral variants and social behavior.
- Findings reveal a disruption in lymphocyte populations, specifically noting an increase in B cells and a decrease in CD3 T cells compared to healthy donors, with a more significant reduction in Tregs among severe cases.
- Results suggest a potential new biomarker, the CD8/CD8 index, for predicting disease progression, as it correlated with increased severity while also showing altered effector cytokine production in T cell populations.
The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the gene. Besides the well-known metabolic complications, patients often present intercurrent infections associated with acute hyperammonemia and metabolic decompensation. However, it is currently unknown whether intercurrent infections are associated with immunological alterations besides the known metabolic imbalances.
View Article and Find Full Text PDFBackground: The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a single reference center in Argentina.
Results: Forty-nine UCD cases were collected.
Classical citrullinemia type I (CTLN1) is an autosomal recessive disorder encoded by the ASS1 gene, which codes for argininosuccinate synthetase (ASS), the rate-limiting enzyme in the urea cycle. Previously, we identified the mutation p.G390R in patients with CTLN1 in the San Luis Province of Argentina.
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