Browsing by Author "Valdivia, Carolina"

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    11β-hydroxysteroid dehydrogenase type 2 polymorphisms and activity in a Chilean essential hypertensive and normotensive cohort.
    (2012) Campino, Carmen; Quinteros, Hector; Owen, Gareth I.; Carvajal, Cristian A.; Morales, Mauricio; Olivieri, Oliviero; Guidi, Giancesare; Faccini, Giovanni; Pasini, Francesco; Baudrand, Rene; Padilla, Oslando; Valdivia, Carolina; Thichauer, Juan; Lagos, Carlos F.; Kalergis, Alexis M.; Fardella, Carlos E.
    BACKGROUND: 11β-hydroxysteroid dehydrogenase type 2 enzyme (11β-HSD2) inactivates cortisol (F) to cortisone (E); its impairment is associated with hypertension. We reported that 15.7% of the Chilean essential hypertensives possessed a high F/E ratio suggesting a partial deficit in 11β-HSD2 activity. It has been reported that the G534A(Glu178/Glu) polymorphism in the HSD11B2 gene is associated with hypertension. Investigate the frequency of the G534A polymorphism and its correlation with the glucocorticoid profile in Chilean essential hypertensive and normotensive subjects. METHODS: Essential hypertensive outpatients (n = 232) and normotensive subjects (n = 74) were recruited. A change in the AluI restriction enzyme digest pattern, caused by the presence of the G534A polymorphism, was utilized to screen DNA isolated from leukocytes within the cohort before confirmation by sequencing. Plasma renin activity (PRA), serum aldosterone, F, and E were measured by radioimmunoassay. Urinary tetrahydrocortisol (THF), 5α-tetrahydrocortisol (5α-THF), and tetrahydrocortisone (THE) were measured by gas chromatography-mass spectrometry. RESULTS: G534A polymorphism frequency was similar between hypertensive patients (19 of 232; 8.2%) and normotensive subjects (7 of 74; 9.5%). When categorized by presence or absence of the G534A polymorphism, no significant differences in the serum F/E ratio or other measured biochemical variables were detected. Despite a previous report that the G534A polymorphism is associated with a neighboring C468A (Thr156/Thr) polymorphism, analysis within our cohort showed that only one patient in each group presented with this double polymorphism. CONCLUSIONS: We report the frequency of the G534A polymorphism in the Spanish-Amerindian population. No correlation was detected between this polymorphism and the presence of hypertension and biochemical parameters in this Chilean cohort.
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    A new presentation of the chimeric CYP11B1/CYP11B2 gene with low prevalence of primary aldosteronism and atypical gene segregation pattern
    (Lippincott Williams & Wilkins, 2012) Carvajal Maldonado, Cristian Andrés; Campino Johnson, María del Carmen; Martínez Aguayo, Alejandro Gregorio; Tichauer Calderón, Juan Enrique; Bancalari, Rodrigo; Valdivia, Carolina; Trejo, Pamela; Aglony Imbarack, Marlene Elizabeth; Baudrand Biggs, René Felipe; Lagos Arévalo, Carlos Fernando; Mellado Sagredo, Cecilia Ximena Del Carmen; García Bruce, Hernán Gabriel; Fardella Bello, Carlos Enrique
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    Citosine-Adenine-Repeat Microsatellite of 11 beta-hydroxysteroid dehydrogenase 2 Gene in Hypertensive Children
    (OXFORD UNIV PRESS, 2016) Valdivia, Carolina; Carvajal, Cristian A.; Campino, Carmen; Allende, Fidel; Martinez Aguayo, Alejandro; Baudrand, Rene; Vecchiola, Andrea; Lagos, Carlos F.; Tapia Castillo, Alejandra; Fuentes, Cristobal A.; Aglony, Marlene; Solari, Sandra; Kalergis, Alexis M.; Garcia, Hernan; Owen, Gareth I.; Fardella, Carlos E.
    BACKGROUND
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    Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome
    (2019) Tapia Castillo, Alejandra; Baudrand Biggs, René; Vaidya, Anand; Campino Johnson, María del Carmen; Allende, Fidel; Carvajal Maldonado, Cristián Andrés; Vecchiola Cárdenas, Andrea Paola; Lagos Arévalo, Carlos Fernando; Fuentes Zúñiga, Cristóbal Andrés; Fardella B., Carlos; Solari, Sandra; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán; Valdivia, Carolina; Tapia Castillo, Alejandra; Baudrand Biggs, René; Vaidya, Anand; Campino Johnson, María del Carmen; Allende, Fidel; Carvajal Maldonado, Cristián Andrés; Vecchiola Cárdenas, Andrea Paola; Lagos Arévalo, Carlos Fernando; Fuentes Zúñiga, Cristóbal Andrés; Fardella B., Carlos; Solari, Sandra; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán; Valdivia, Carolina
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    Identification of novel 11β-HSD1 inhibitors by combined ligand- and structure-based virtual screening
    (2014) Lagos Arévalo, Carlos Fernando; Vecchiola Cárdenas, Andrea Paola; Allende, Fidel; Fuentes Zúñiga, Cristóbal Andrés; Tichauer, Juan E.; Valdivia, Carolina; Solari Gajardo, Sandra; Campino Johnson, María del Carmen; Tapia-Castillo, Alejandra; Baudrand Biggs, René; Villarroel, Pia; Cifuentes, Mariana; Owen, Gareth Ivor; Carvajal, Cristian A.; Fardella B., Carlos
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    Polymorphisms in the RAC1 Gene Are Associated With Hypertension Risk Factors in a Chilean Pediatric Population
    (OXFORD UNIV PRESS, 2014) Tapia Castillo, Alejandra; Carvajal, Cristian A.; Campino, Carmen; Vecchiola, Andrea; Allende, Fidel; Solari, Sandra; Garcia, Lorena; Lavanderos, Sergio; Valdivia, Carolina; Fuentes, Cristobal; Lagos, Carlos F.; Martinez Aguayo, Alejandro; Baudrand, Rene; Aglony, Marlene; Garcia, Hernan; Fardella, Carlos E.
    The GTPase Rac1 has been implicated in hypertension as a modulator of mineralocorticoid receptor activity. Our aim is to investigate the frequency of polymorphisms rs10951982 (intron 1, G > A) and rs836478 (intron 3, T > C) in the RAC1 gene and perform association studies with clinical and biochemical parameters in a Chilean pediatric cohort.
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    PS 10-19 Serum cortisone and cortisol/cortisone ratio as tool to identify subjects with severe and partial 11beta-hydroxysteroid dehydrogenase type 2 deficiencies
    (LIPPINCOTT WILLIAMS & WILKINS, 2016) Carvajal Maldonado, Cristian Andrés; Tapia Castillo, Alejandra; Martínez Aguayo, Alejandro Gregorio; Valdivia, Carolina; Campino Johnson, María Del Carmen; Baudrand Biggs, Rene Felipe; Allende Sanzana, Fidel Alejandro; Pinochet Valenzuela, Constanza; Iturrieta González, Virginia Andrea; Lizama, Jaime; Solari Gajardo, Sandra; Fardella Bello, Carlos Enrique
    Objective: To report the phenotype of patients with AME by clinical and biochemical study, and expanding the study to their families and unrelated subjects to assess the value of F/E ratio as a biomarker partial deficiency of 11βHSD2.Design and Method: We evaluated 2 AME patients and their families. Family 1: A 17 years-old male with a homozygous Asp223Asn (D223N) mutation in HSD11B2, his mother (33 years) and sister (8 years); and Family 2: A 2 years-old girl with a homozygous Arg213Cys (R213C) mutation in HSD11B2, his father (30 years), her mother (30 years) and sister (6 years). We measured serum potassium, aldosterone, plasma renin activity (PRA), microalbuminuria, NGAL and F/E ratio (HPLC-MS). Reference ranges (RR), percentiles (p) and cut-off points for F, E and F/E serum were determined on data obtained from adult and pediatric normotensive subjects (F/E children RR: 1.63 to 5.15 and F/E adults RR:2.6–7.8]). Genetic analyses were performed by PCR-HRM and DNA sequencing.Results: Family 1: Index case (mut D223N) with classical AME features and a high serum F/E ratio (28.8 (> p99)). His mother and sister were normotensive and heterozygous for the same mutation D223N without clinical and biochemical abnormalities but with high F/E ratios (13.1 (p97) and 7.4 (p97)), respectively). Family 2: Index case (mut R213C) with classical AME and and a high F/E (175 (>p99)). His father, mother and sister were heterozygous for R123C, and are clinically and biochemically normal except for high F/E ratios (p92, p93 and p85, respectively).Conclusions: A F/E ratio greater than p90 –often associated to a cortisone lesser than p30- in relatives of subjects with AME suggests that partial heterozygous alterations or deficit in HSD11B2 are able to be identified by studying the serum cortisone and F/E ratio without prior clinical or biochemical features of classic AME such as AH, suppressed PRA and hypokalemia.
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    Usefulness and Pitfalls in Sodium Intake Estimation : Comparison of Dietary Assessment and Urinary Excretion in Chilean Children and Adults
    (2016) Campino Johnson, María del Carmen; Hill, Caroline; Baudrand Biggs, René; Martínez Aguayo, Alejandro Gregorio; Aglony Imbarack, Marlene Elizabeth; Carrasco, Carmen A.; Ferrada, Clarita; Loureiro Pérez, Carolina Andrea; Vecchiola Cárdenas, Andrea Paola; Bancalari, Rodrigo; Grob Lunecke, Francisca Andrea; Carvajal, Cristian A.; Lagos, Carlos F.; Valdivia, Carolina; Tapia-Castillo, Alejandra; Fuentes Zúñiga, Cristóbal Andrés; Mendoza, Carolina; García Bruce, Hernán; Uauy, Ricardo; Fardella B., Carlos; Campino Johnson, María del Carmen; Hill, Caroline; Baudrand Biggs, René; Martínez Aguayo, Alejandro Gregorio; Aglony Imbarack, Marlene Elizabeth; Carrasco, Carmen A.; Ferrada, Clarita; Loureiro Pérez, Carolina Andrea; Vecchiola Cárdenas, Andrea Paola; Bancalari, Rodrigo; Grob Lunecke, Francisca Andrea; Carvajal, Cristian A.; Lagos, Carlos F.; Valdivia, Carolina; Tapia-Castillo, Alejandra; Fuentes, Cristóbal A.; Mendoza, Carolina; García Bruce, Hernán; Uauy, Ricardo; Fardella B., Carlos