Browsing by Author "Rodríguez, Fernando"
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- ItemCo-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant(2018) Rodríguez, Fernando; Vallejos, Carla; Bolanos García, Víctor M.; Ponce, Diana; Unanue, Nancy; Garay Greve, Francisco Javier; Cassorla, Fernando; Aracena Álvarez, Mariana Inés
- ItemDifferential Methylation of CYP11B1 in Girls with High DHEAS Levels and Correlation with 11-Oxyandrogen Levels: A Pilot Study(Birkhauser, 2024) Rodríguez, Fernando; Ponce, Diana; Miranda Marín, José Patricio; Santos Martín, José Luis; Cutler Jr., Gordon B.; Pereira, Ana; Barnafi, Esteban; Iniguez, Germán; Mericq, VerónicaIntroduction: Premature adrenarche in girls is defined biochemically by an increase in adrenal androgen (DHEAS) levels above the age-specific reference range before age 8 years. Recently, increased levels of 11-oxyandrogens have also been reported in girls with premature adrenarche. Epigenetic modifications, specifically CpG methylation, may affect gene expression and/or activity of steroidogenic enzymes during developmental changes in adrenal androgen secretion. Objective: The aim of the study was to determine whether circulating 11-oxyandrogen levels in post-menarcheal girls are associated with the methylation status of genes involved in 11- oxyandrogen steroidogenesis. Methods: Ninety-seven healthy girls followed since the age of 3 years were classified, according to DHEAS serum concentration at age 6.7 years, as normal DHEAS (<42 μg/dL [75th percentile for population]) or high DHEAS (≥42 μg/dL). At Tanner stage 2, themethylation status of CpG sites located in CYP11B1 and HSD11B2 genes was analyzed in genomic DNA from peripheral blood leukocytes by the melting curve analysis methylation assay. Eleven-oxyandrogen concentrations were assessed at 4 years post menarche. Results: Significantly lower methylation levels were detected in the CYP11B1 gene in girls with high versus normal serum DHEAS levels, with no differences found in HSD11B2 gene. Additionally, CYP11B1 methylation status correlated inversely with 11β-hydroxy-androstenedione and 11-ketotestosterone levels. Furthermore, CYP11B1 methylation in the full cohort correlated inversely with insulin concentration at Tanner 1 and with body mass index at Tanner stage 1 and 2. Conclusion: This pilot study proposes the hypothesis that a lowermethylation of CYP11B1 may be a mechanism contributing to increased concentrations of 11-oxyandrogens in premature adrenarche and its associated metabolic risk.
- ItemDifferential Methylation of CYP11B1 in Girls with High DHEAS Levels and Correlation with 11-Oxyandrogen Levels: A Pilot Study(S. Karger AG, 2024) Rodríguez, Fernando; Ponce, Diana; Miranda Marín, José Patricio; Santos Martín, José Luis; Cutler Jr., Gordon B.; Pereira, Ana; Barnafi, Esteban; Iniguez, Germán; Mericq, VerónicaIntroduction: Premature adrenarche in girls is defined biochemically by an increase in adrenal androgen (DHEAS) levels above the age-specific reference range before age 8 years. Recently, increased levels of 11-oxyandrogens have also been reported in girls with premature adrenarche. Epigenetic modifications, specifically CpG methylation, may affect gene expression and/or activity of steroidogenic enzymes during developmental changes in adrenal androgen secretion. Objective: The aim of the study was to determine whether circulating 11-oxyandrogen levels in post-menarcheal girls are associated with the methylation status of genes involved in 11- oxyandrogen steroidogenesis. Methods: Ninety-seven healthy girls followed since the age of 3 years were classified, according to DHEAS serum concentration at age 6.7 years, as normal DHEAS (<42 μg/dL [75th percentile for population]) or high DHEAS (≥42 μg/dL). At Tanner stage 2, themethylation status of CpG sites located in CYP11B1 and HSD11B2 genes was analyzed in genomic DNA from peripheral blood leukocytes by the melting curve analysis methylation assay. Eleven-oxyandrogen concentrations were assessed at 4 years post menarche. Results: Significantly lower methylation levels were detected in the CYP11B1 gene in girls with high versus normal serum DHEAS levels, with no differences found in HSD11B2 gene. Additionally, CYP11B1 methylation status correlated inversely with 11β-hydroxy-androstenedione and 11-ketotestosterone levels. Furthermore, CYP11B1 methylation in the full cohort correlated inversely with insulin concentration at Tanner 1 and with body mass index at Tanner stage 1 and 2. Conclusion: This pilot study proposes the hypothesis that a lowermethylation of CYP11B1 may be a mechanism contributing to increased concentrations of 11-oxyandrogens in premature adrenarche and its associated metabolic risk.
- ItemDifferential methylation pattern in pubertal girls associated with biochemical premature adrenarche(2023) Ponce, Diana; Rodríguez, Fernando; Miranda, José P.; Binder, Alexandra M.; Santos, José L.; Michels, Karin B.; Cutler, Gordon B.; Pereira, Ana; Iñiguez, Germán; Mericq, VerónicaBiochemical premature adrenarche is defined by elevated serum DHEAS [≥40 μg/dL] before age 8 y in girls. This condition is receiving more attention due to its association with obesity, hyper-insulinemia, dyslipidemia, and polycystic ovary syndrome. Nevertheless, the link between early androgen excess and these risk factors remains unknown. Epigenetic modifications, and specifi-cally DNA methylation, have been associated with the initiation and progression of numerous disorders, including obesity and insulin resistance. The aim of this study was to determine if prepubertal androgen exposure is associated with a different methylation profile in pubertal girls. Eighty-six healthy girls were studied. At age 7 y, anthropometric measurements were begun and DHEAS levels were determined. Girls were classified into Low DHEAS (LD) [<42 μg/dL] and High DHEAS (HD) [≥42 μg/dL] groups. At Tanner stages 2 and 4 a DNA methylation microarray was performed to identify differentially methylated CpG positions (DMPs) between HD and LD groups. We observed a differential methylation pattern between pubertal girls with and without bio-chemical PA. Moreover, a set of DNA methylation markers, selected by the LASSO method, successfully distinguished between HD and LD girls regardless of Tanner stage. Additionally, a subset of these markers were significantly associated with glucose-related measures such as insulin level, HOMA-IR, and glycaemia. This pilot study provides evidence consistent with the hypothesis that high DHEAS concentration, or its hormonally active metabolites, may induce a unique blood methylation signature in pubertal girls, and that this methylation pattern is associated with altered glucose metabolism.
- ItemEffects of dobutamine on intestinal microvascular blood flow heterogeneity and O2 extraction during septic shock(2017) Ospina Tascón, Gustavo A.; García Marín, Alberto F.; Echeverri, Gabriel J.; Bermúdez, William F.; Madriñán-Navia, Humberto; Valencia, Juan David; Quiñones, Edgardo; Rodríguez, Fernando; Bruhn, Alejandro; Hernández P., Glenn; Marulanda, Angela; Arango-Dávila, César A.; De Backer, Daniel
- ItemFactores asociados a sedentarismo en Chile : evidencia de la Encuesta Nacional de Salud 2009-2010(2018) Martínez, María Adela; Leiva, Ana María; Petermann, Fanny; Garrido, Alex; Díaz, Ximena; Álvarez, Cristián; Salas Bravo, Carlos; Cristi, Carlos; Rodríguez, Fernando; Aguilar, Nicolás; Ramírez, Rodrigo; Celis, Carlos