Browsing by Author "Martínez Aguayo, Alejandro Gregorio"
Now showing 1 - 20 of 27
Results Per Page
Sort Options
- ItemA 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
- ItemA novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I(2014) Martínez Aguayo, Alejandro Gregorio; Poggi, Helena; Cattani Ortega, Andreina; Molina, M.; Romeo, A.; Lagos Lucero, Sonia Marcela
- ItemAccelerated early pubertal progression, ovarian morphology, and ovarian function in prospectively followed low birth weight (LBW) girls(2013) Hernández, María Isabel; Martínez Aguayo, Alejandro Gregorio; Cavada Chacón, Gabriel; Peña Novoa, Verónica; Trejo, León; Ávila, Alejandra; Salazar Cornejo, Teresa; Asenjo, Sylvia; Iñíguez Vila, Germán; Rey, Rodolfo; Mericq, Verónica
- ItemAge-Related Changes in 11 beta-Hydroxysteroid Dehydrogenase Type 2 Activity in Normotensive Subjects(2013) Campino Johnson, María del Carmen; Martínez Aguayo, Alejandro Gregorio; Baudrand Biggs, René; Carvajal Maldonado, Cristián Andrés; Aglony Imbarack, Marlene Elizabeth; García Bruce, Hernán; Padilla Pérez, Oslando; Kalergis Parra, Alexis Mikes; Fardella B., Carlos
- ItemALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS(2019) Dominguez Menéndez, Gonzalo; Poggi, Helena; Arancibia, Mónica; Benavides, Felipe; Martínez Aguayo, Alejandro Gregorio
- ItemCáncer tiroideo papilar. Reporte de 4 casos familiares(2014) Ferrada, C.; Godoy Cortés, Claudia Loreto; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán
- ItemClinical, 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
- ItemConcordancia de la citología por punción con aguja fina para la detección de cáncer de tiroides en pediatría(2014) Grob Lunecke, Francisca Andrea; Carrillo, D.; Martínez Aguayo, Alejandro Gregorio; Zoroquiain Vélez, José Pablo; Solar González, Antonieta Alejandra; Nicolaides, I.; González Díaz, Hernán
- ItemCortisol/cortisone ratio and matrix metalloproteinase-9 activity are associated with pediatric primary hypertension(2016) Martínez Aguayo, Alejandro Gregorio; Campino Johnson, María del Carmen; Baudrand Biggs, René; Carvajal, C.; García Bruce, Hernán; Aglony Imbarack, Marlene Elizabeth; Bancalar, R.; García, L.; Loureiro Pérez, Carolina Andrea; Vecchiola Cárdenas, Andrea Paola; Tapia Castillo, A.; Valdivia, C.; Sanhueza, S.; Fuentes, C.; Lagos, C.; Solari, S.; Allende, Fidel; Kalergis Parra, Alexis Mikes; Fardella B., Carlos; Martínez Aguayo, Alejandro Gregorio; Campino Johnson, María del Carmen; Baudrand Biggs, René; Carvajal, C.; García Bruce, Hernán; Aglony Imbarack, Marlene Elizabeth; Bancalar, R.; García, L.; Loureiro Pérez, Carolina Andrea; Vecchiola Cárdenas, Andrea Paola; Tapia Castillo, A.; Valdivia, C.; Sanhueza, S.; Fuentes, C.; Lagos, C.; Solari, S.; Allende, Fidel; Kalergis Parra, Alexis Mikes; Fardella B., Carlos
- ItemEstatura final en niños con talla baja idiopática tratados con hormona del crecimiento(2015) Avilés Espinoza, Carolina; Bermúdez Melero, Carla; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán
- ItemEsteatosis Hepática: ¿Preludio de diabetes tipo 2 en población pediátrica?(2014) Piazzarollo Loureiro, Carolina; Martínez Aguayo, Alejandro Gregorio; Campino Johnson, María del Carmen; Carvajal Maldonado, Cristián Andrés; Fardella B., Carlos; García Bruce, Hernán
- ItemGenetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum(2019) Da Silva, T.E.; Gomes, N.L.; Lerario, A.M.; Keegan, C.E.; Nishi, M.Y.; Carvalho, F.M.; Vilain, E.; Barseghyan, H.; Martínez Aguayo, Alejandro Gregorio; Forclaz, M.V.; Papazian, R.; De Paula, L.C.P.; Costa, E.C.; Carvalho, L.R.; Lima Jorge, A.A.; Martins Elias, F.; Mitchell, R.; Frade Costa, E.M.; Bilharinho Mendonca, B.; Domenice, S.
- ItemHipertension arterial mineralocorticoidea(2013) Fardella B., Carlos; Carvajal Maldonado, Cristián Andrés; Campino Johnson, María del Carmen; Tapia Castillo, A.; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán
- ItemLeuprolide acetate-stimulated androgen response during female puberty(2015) Hernández, María Isabel; Martínez Aguayo, Alejandro Gregorio; Cavada, Gabriel; Avila, Alejandra; Iñiguez, German; Mericq, Veronica
- ItemLong-term metabolic risk among children born premature or small for gestational age(2017) Mericq, V.; Martínez Aguayo, Alejandro Gregorio; Uauy, Ricardo; Iniguez, G.; Van Der Steen, M.; Hokken, A.
- ItemMicrovascular Coronary Flow Comparison in Acute Myocardial Infarction Angioplasty treated with a mesh covered stent (MGUARD Stent) versus Bare Metal Stent. MICAMI-MGUARD(2013) Lindefjeld, Dante; Guarda Salazar, Eduardo Raimundo; Méndez Lesser, Manuel; Martínez Aguayo, Alejandro Gregorio; Pérez, Osvaldo; Fajuri, Alejandro; Marchant, Eugenio; Aninat, M.; Torres, H.; Dussaillant, G.
- ItemPerinatal antecedents of sleep disturbances in schoolchildren(2020) Brockmann Veloso, Pablo Edmundo; Poggi, Helena; Martínez Aguayo, Alejandro Gregorio; D'Apremont Ormeño, Ivonne; Moore Valdés, María Rosario; Smith, D.; Gozal, D.
- ItemPositive association between aldosterone-renin ratio and carotid intima-media thickness in hypertensive children(2013) Loureiro Pérez, Carolina Andrea; Campino Johnson, María del Carmen; Martínez Aguayo, Alejandro Gregorio; Godoy J., Iván; Aglony Imbarack, Marlene Elizabeth; Bancalari, R.; García Bruce, Hernán; Carvajal, C.; Fardella B., Carlos
- ItemPS 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 EnriqueObjective: 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.
- ItemSerum cortisol and cortisone as potential biomarkers of partial 11β-hydroxysteroid dehydrogenase type 2 deficiency(2018) Carvajal Maldonado, Cristián Andrés; Tapia Castillo, Alejandra; Valdivia, Carolina P.; Allende, Fidel; Solari Gajardo, Sandra; Lagos Arévalo, Carlos Fernando; Campino Johnson, María del Carmen; Martínez Aguayo, Alejandro Gregorio; Vecchiola Cárdenas, Andrea Paola; Pinochet, Constanza