Browsing by Author "García Bruce, Hernán"

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    A deletion of more than 800 kb is the most recurrent mutation in chilean patients with SHOX gene defects
    (2015) Poggi, Helena; Vera, A.; Avalos, C.; Lagos, M.; Mellado Sagredo, Cecilia; Aracena Álvarez, Mariana Inés; Aravena, T.; García Bruce, Hernán; Godoy Cortés, Claudia Loreto; Cattani Ortega, Andreina; Reyes, L.; Lacourt, P.; Rumié Carmi, Hana K.; Mericq, V.; Arriaza, M.; Martinez-Aguayo, A.
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    Age-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
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    An XRCC4 splice mutation associated with severe short stature, gonadal Failure, and early-onset metabolic syndrome
    (2015) de Bruin, Christiaan; Veronica Mericq; Shayne F., Andrew; van Duyvenvoorde, Hermine A.; Verkaik, Nicole S.; Losekoot, Monique; Porollo, Aleksey; García Bruce, Hernán; Kuang, Yi; Hanson, Dan; Clayton, Peter; van Gent, Dik C.; Wit, Jan M.; Hwa, Vivian; Dauber, Andrew
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    Ausencia congénita de la vena porta hepática asociada a malrotación intestinal y a vena cava inferior izquierda
    (2016) Inzunza, Oscar; García Bruce, Hernán; Zúñiga, S.; Inzunza, M.; Schneeberger Lozano, Daniela Constanza; Salgado A., Guillermo; Farfán C., Emilio
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    Cáncer tiroideo papilar. Reporte de 4 casos familiares
    (2014) Ferrada, C.; Godoy Cortés, Claudia Loreto; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán
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    Clinical profile of children with diabetic ketoacidosis in fifteen years of management in a Critical Care Unit
    (2018) Del Pozo Bascuñan, Paulina Andrea; Aránguiz, Diego; Córdova Lazo, Guiliana; Scheu Goncalves, Christian Andrés; Valle Múñoz, Patricio Alejandro; Cerda, Jaime; García Bruce, Hernán; Hodgson Bunster, María Isabel; Castillo Moya, Andres Eduardo
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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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    Clusters of Autoimmune Diseases in Children and the Role of PTPN22 C1858T Gene Polymorphism in Pediatric Polyautoimmunity
    (2014) Borzutzky Schachter, Arturo; Seiltgens, Cristián; Iruretagoyena B., Mirentxu; Cristi, Francisca; Ponce, María Jesús ; Melendez, Patricia; Martínez Aguayo, Alejandro; Hodgson Bunster, María Isabel; Talesnik Guendelman, Eduardo; Riera Cassorla, Francisca Paz; Méndez, Cecilia; Harris D., Paul R.; García Bruce, Hernán; Gana Ansaldo, Juan Cristóbal; Godoy, Claudia; Cattani Ortega, Andreína
    Background/Purpose:Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families. Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. The objectives of this study were to identify clusters of AIDs in children and their first-degree relatives and to evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Methods:A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years)recruited at Pediatric Rheumatology, Endocrinology and Gastroenterology Clinics at the Health Network of the Pontificia Universidad Católica de Chile School of Medicine. Clusters of AIDs were identified by K-means cluster analysis. The PTPN22 C1858T gene polymorphism was determined by RT-PCR in subjects with pediatric polyautoimmunity and in subjects with three common AIDs: juvenile idiopathic arthritis (JIA), autoimmune thyroid disease (AITD), and type I diabetes (T1D).Results:191 subjects with pediatric AIDs were included, of which 45 (24%) had polyautoimmunity. Mean age was 12.1 years (range 1–19) and 68% were female. Most frequent AIDs were JIA (36%), AITD (25%), T1D (19%), uveitis (8%), celiac disease (6%), and vitiligo (6%). 59% of subjects with pediatric autoimmunity had first-degree relatives with an AID. Five clusters of AID were identified in families of children with autoimmunity (Table 1). Among the 45 subjects with pediatric polyautoimmunity, four clusters of AIDs were identified (Table 2). Genomic DNA from 128 subjects was evaluated for PTPN22 C1858T gene polymorphism revealing common homozygosity (C/C) in 85.2%, heterozygosity (C/T) in 13.3%, and rare homozygosity (T/T) in 1.6 %, in equilibrium with Hardy Weinberg equation (P = 0.4). 26% of polyautoimmune subjects had the T allele in contrast with 11% of monoautoimmune subjects (P = 0.04). No significant difference was found in the age of onset of autoimmunity between mono and polyautoimmune subjects (P = 0.44) or between subjects with C/C genotype vs. C/T and T/T genotypes (P = 0.81).
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    Cortisol/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
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    ¿Es Importante la Salud Oral en los Niños con Diabetes?
    (2010) Palomer Roggerone, Leonor; García Bruce, Hernán
    Introducción: La Diabetes Mellitus (DM) afecta a un porcentaje importante de la población y cada vez se observa con mayor frecuencia en niños y adolescentes. Diferentes órganos y tejidos se ven afectados en el paciente diabético, incluyendo complicaciones a nivel de los tejidos orales. Objetivo: Revisar la potencial relación entre DM y salud oral en pacientes pediátricos y buscar cuáles serían las medidas que ayudarían en la prevención y detección precoz de estas complicaciones. Método: Se realizó una búsqueda bibliográfica en Internet, ingresando a través del sitio del Sistema de Bibliotecas de la Pontificia Universidad Católica de Chile (SIBUC) a un metabuscador que permite acceder a revistas electrónicas, bases de datos y un catálogo en línea que contiene libros y revistas impresas. Se utilizaron los términos: Diabetes, Diabetes Mellitus, Diabetes Juvenil y Salud Oral. Se seleccionaron aquellos trabajos que estudiaron pacientes pediátricos. Resultados: La mayoría de los estudios concuerda en que los pacientes con DM-1 tienen recambio dental acelerado, más enfermedad gingival y periodontal, y alteración en la composición salival. Respecto de la relación con caries, la mayoría encuentra mayor riesgo de caries, especialmente en los con mal control metabólico. Conclusiones: Dado el mayor riesgo de enfermedades de la salud oral en niños con DM-1, debiera incorporarse el control dental al control multidisciplinario habitual en niños con DM-1. La incorporación de educación en salud oral es este grupo de riesgo permitiría disminuir estas patologías.
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    Estatura 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
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    Esteatosis 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
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    Hipertension 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
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    II Consenso de la Sociedad Chilena de Endocrinología y Diabetes sobre resistencia a la insulina
    (2015) Pollak Cornejo, Felipe; Araya, Verónica; Lanas, Alejandra; Arrese Jiménez, Marco; Galgani Fuentes, José; García Bruce, Hernán; Maiz Gurruchaga, Manuel Alberto; Valderas Igor, Juan Patricio; Villaseca Délano, Paulina
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    Incidence of type 1 diabetes in Chilean children between 2006 and 2021: significant increase during the COVID-19 pandemic
    (Springer-Verlag Italia SRL, 2023) Tampe Araya, Ingeborg; Garfias, Carolina; Borzutzky Schachter, Arturo; Slaibe, Lissette; García Bruce, Hernán
    An increase in type 1 diabetes (T1D) incidence has been observed in several countries during the COVID-19 pandemic. The objective of this study is to determine T1D incidence trends in Chilean children between 2006 and 2021, and specifically evaluate the effect of the COVID-19 pandemic in this population.MethodsWe reviewed mandatory notifications of T1D in Chile's public and private health system in youth < 20 years between 2006 and 2021, and compared COVID-19 pre-pandemic and pandemic incidence.ResultsIn Chile, 9472 new T1D cases in children were confirmed between 2006 and 2021. The mean annual T1D incidence in the entire period was 12.7/100,000 inhabitants, with an incidence of 11.7/100,000 between 2006 and 2019 vs. 20.2/100,000 during 2020-2021 (& beta; = 0.691, [95%CI 0.479-0903], p < 0.001.) The highest incidence was observed in the 10-14 years age group, but a significant increasing incidence was observed in all age groups. The second year of the COVID-19 pandemic, 2021, had the highest incidence rate of the study period. While a 5% mean annual increase was observed between 2006 and 2019, in 2021 the T1D incidence jumped 28.5% compared with the two previous years. We found a higher T1D incidence in population with private insurance than public insurance (14.8 vs. 11.7/100.000, respectively, RR = 1.26 [95%CI 1.03-1.53], p < 0.027).ConclusionsT1D incidence rates in Chilean youth doubled between 2006 and 2018, subsequently presenting a striking increase during the COVID-19 pandemic.
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    Mandatory notifications of type 1 diabetes incident cases in Chilean children, 2006 to 2014: A population-based study
    (2020) Garfias, CP; Borzutzky Schachter, Arturo; Ugarte, MF; Garcia, HJ; Phingsthorn, M; García Bruce, Hernán
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    Niveles de hormonas tiroideas en niños obesos. Thyroid function in obese children
    (2014) Sanchez, T.; Godoy, J.; García Bruce, Hernán; Barja Y., Salesa
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    Positive 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
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    La razón cintura estatura en escolares no varía con el género, la edad ni la maduración puberal
    (2014) Arnáiz Gómez, Pilar; Grob Lunecke, Francisca Andrea; Cavada, Gabriel; Domínguez de Landa, María Angélica; Bancalari, Rodrigo; Cerda, Verónica; Zamorano, Juanita; Fernández, Manuel; García Bruce, Hernán
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    Sodium intake is associated with endothelial damage biomarkers and metabolic dysregulation
    (2018) Campino Johnson, María del Carmen; Baudrand Biggs, René; Valdivia, Carolina A.; Carvajal Maldonado, Cristián Andrés; Vecchiola Cárdenas, Andrea Paola; Tapia Castillo, Alejandra; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán; García, Lorena; Allende, Fidel