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Guillén Navarro, Encarna

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Guillén Navarro, Encarna
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Universidad de Murcia. Departamento de Cirugía, Pediatría, Obstetriciay Ginecología
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    Barth syndrome in adulthood: a clinical case.
    (Elsevier, 2013-01) García Molina, Esperanza; Escudero, Fuensanta; Ruiz Espejo, Francisco; Sabater Molina, María; Ballesta Martínez, María Juliana; Guillén Navarro, Encarna; Ciencias Sociosanitarias
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    Age‑dependent association of clonal hematopoiesis with COVID‑19 mortality in patients over 60 years
    (Springer, 2022-10-03) Del Pozo‑Valero, Marta; Corton, Marta; López‑Rodríguez, Rosario; Mahillo‑Fernández, Ignacio; Ruiz‑Hornillos, Javier; Minguez, Pablo; Villaverde, Cristina; Pérez‑Tomás, María Elena; Barreda‑Sánchez, María; Mancebo, Esther; STOP_Coronavirus Study Group; Paz‑Artal, Estela; Almoguera, Berta; Ayuso, Carmen; García-Vázquez, Elisa; Guillén Navarro, Encarna; Medicina
    Clonal hematopoiesis, especially that of indeterminate potential (CHIP), has been associated with age-related diseases, such as those contributing to a more severe COVID-19. Four studies have attempted to associate CHIP with COVID-19 severity without conclusive findings. In the present work, we explore the association between CHIP and COVID-19 mortality. Genomic DNA extracted from peripheral blood of COVID-19 patients (n = 241 deceased, n = 239 survivors) was sequenced with the Myeloid Solutions™ panel of SOPHiA Genetics. The association between clonality and age and clonality and mortality was studied using logistic regression models adjusted for sex, ethnicity, and comorbidities. The association with mortality was performed with patients stratified into four groups of age according to the quartiles of the distribution: 60–74 years, 75–84 years, 85–91 years, and 92–101 years. Clonality was found in 38% of the cohort. The presence of CHIP variants, but not the number, significantly increased with age in the entire cohort of COVID-19 patients, as well as in the group of survivors (p < 0.001). When patients were stratified by age and the analysis adjusted, CHIP classified as pathogenic/likely pathogenic was significantly more represented in deceased patients compared with survivors in the group of 75–84 years (34.6% vs 13.7%, p = 0.020). We confirmed the well-established linear relationship between age and clonality in the cohort of COVID-19 patients and found a significant association between pathogenic/likely pathogenic CHIP and mortality in patients from 75 to 84 years that needs to be further validated.
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    Estudio genético de la porfiria aguda intermitente en la Región de Murcia / Encarnación Guillén Navarro ; Directores, Andrés Fernández Barreiro, Guillermo Glover Pérez, Manuel Sánchez Solís de Querol.
    (Murcia : Universidad de Murcia, Facultad de Medicina, Departamento de Ciencias Sociosanitarias,, 1999) Glover Lopéz, Guillermo; Fernández Barreiro, Andrés; Sánchez-Solís de Querol, Manuel; Guillén Navarro, Encarna
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    Open Access
    GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
    (2013) Morena-Barrio, María Eugenia de la; Corral, Javier; García-López, Roberto; Martínez-Martínez, Irene; Pérez-Dueñas, Belén; Altisent, Carmen; Sevivas, Teresa; Kristensen, Soren; Miñano, Antonia; Vicente, Vicente; Jaeken, Jaak; Lozano, María Luisa; Hernández Caselles, Trinidad; Guillén Navarro, Encarna; Medicina
    Background: Mutations in PMM2 impair phosphomannomutase-2 activity and cause the most frequent congenital disorder of glycosylation, PMM2-CDG. Mannose-1-phosphate, that is deficient in this disorder, is also implicated in the biosynthesis of glycosylphosphatidyl inositol (GPI) anchors. Objective: To evaluate whether GPI-anchor and GPI-anchored proteins are defective in PMM2-CDG patients. Methods: The expression of GPI-anchor and seven GPI-anchored proteins was evaluated by flow cytometry in different cell types from twelve PMM2-CDG patients. Additionally, neutrophil CD16 and plasma hepatic proteins were studied by Western blot. Transferrin glycoforms were evaluated by HPLC. Results: Patients and controls had similar surface expression of GPI-anchor and most GPI-anchored proteins. Nevertheless, patients displayed a significantly diminished binding of two anti-CD16 antibodies (3G8 and KD1) to neutrophils and also of anti-CD14 (61D3) to monocytes. Interestingly, CD16 immunostaining and asialotransferrin levels significantly correlated with patients' age. Analysis by flow cytometry of CD14 with MΦP9, and CD16 expression in neutrophils by Western blot using H-80 ruled out deficiencies of these antigens. Conclusions: PMM2 mutations do not impair GPI-anchor or GPI-anchored protein expression. However, the glycosylation anomalies caused by PMM2 mutations might affect the immunoreactivity of monoclonal antibodies and lead to incorrect conclusions about the expression of different proteins, including GPI-anchored proteins. Neutrophils and monocytes are sensitive to PMM2 mutations, leading to abnormal glycosylation in immune receptors, which might potentially affect their affinity to their ligands, and contribute to infection. This study also confirms less severe hypoglycosylation defects in older PMM2-CDG patients.
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